Hypoplasia Ppts and Published articles
Hypoplasia is underdevelopment or incomplete development of a tissue or organ
Optic Nerve Hypoplasia
Julie Greenlee
Angela Howe
http://www.faculty.sfasu.edu/
APLASTIC AND HYPOPLASTIC ANEMIAS
http://instructional1.calstatela.edu
Congenital Horizontal Gaze Palsy,
Progressive Scoliosis
http://novel.utah.edu/
Neonatal Diagnosis
https://www.ohsu.edu
Anesthesia for Congenital Heart Disease
Glynne D. Stanley MB.ChB. FRCA
https://www.bu.edu
Disturbances of Growth Neoplasia
Gerald D. Abrams MD
http://open.umich.edu
Human Genetics of Urinary Tract Malformation
Ali Gharavi, MD
http://www.columbia.edu/
Optic Nerve Hypoplasia
Julie Greenlee, Angela Howe
http://www.faculty.sfasu.edu
Primary Adrenal Disease
Briana Patterson, M.D.
http://www.pediatrics.emory.edu
Pulmonary Hypertension in The Neonates
Simona Nichita
http://elpaso.ttuhsc.edu
Congenital Hearing Loss
Ashley Starkweather, MD
http://headandnecksurgery.ucla.edu
Congenital Adrenal Hyperplasia due to Abnormal Steroidogenesis
http://webmedia.unmc.edu
Congenital Malformation - Scope of the Problem
Charles J. Macri MD
http://www.gwumc.edu/
Down Syndrome
Emily Pollakowski, MD
https://www.umassmed.edu
200 latest Published articles of Hypoplasia
1. Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome
Pelosini, Caterina; Martinelli, Silvia; Ceccarini, Giovanni; et al.
METABOLISM-CLINICAL AND EXPERIMENTAL Volume: 63 Issue: 11 Pages: 1385-1389 Published: NOV 2014
2. Assessment of pulmonary vascular reactivity to oxygen using fractional moving blood volume in fetuses with normal lung development and pulmonary hypoplasia in congenital diaphragmatic hernia
DeKoninck, Philip; Jimenez, Julio; Russo, Francesca M.; et al.
PRENATAL DIAGNOSIS Volume: 34 Issue: 10 Pages: 977-981 Published: OCT 2014
3. Prenatal unilateral cerebellar hypoplasia in a series of 26 cases: significance and implications for prenatal diagnosis
Massoud, M.; Cagneaux, M.; Garel, C.; et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY Volume: 44 Issue: 4 Pages: 447-454 Published: OCT 2014
4. Clinical and demographic associations with optic nerve hypoplasia in New Zealand
Goh, Yi Wei; Andrew, Dale; McGhee, Charles; et al.
BRITISH JOURNAL OF OPHTHALMOLOGY Volume: 98 Issue: 10 Pages: 1364-1367 Published: OCT 2014
5. Muscle Overgrowth of the Upper Limb in a Proximo-Distal Gradient and Concurrent Hypoplasia of the Index Finger
Al-Qattan, Mohammad M.
JOURNAL OF PEDIATRIC ORTHOPAEDICS Volume: 34 Issue: 7 Pages: 715-719 Published: OCT-NOV 2014
6. Epimorphin expression in a rat model of pulmonary hypoplasia associated with congenital diaphragmatic hernia
Akpinar, Ilke; Korgun, Dicle; Cetin, Arzu; et al.
PEDIATRIC SURGERY INTERNATIONAL Volume: 30 Issue: 10 Pages: 1037-1043 Published: OCT 2014
7. Ccncentric Macular Rings Sign in Patients With Fovea! Hypoplasia
Cornish, Kurt Spiteri; Reddy, Aravind R.; McBain, Vildd A.
JAMA OPHTHALMOLOGY Volume: 132 Issue: 9 Pages: 1084-1088 Published: SEP 2014
8. The gonadal hypoplasia of Northern Finncattle and PIRM syndrome in Ayrshire breed
Venhoranta, H.; Pausch, H.; Flisikowski, K.; et al.
Conference: 18th Annual Conference of the European-Society-for-Domestic-Animal-Reproduction (ESDAR) Location: Helsinki, FINLAND Date: SEP 11-13, 2014
Sponsor(s): European Soc Domest Anim Reprod
REPRODUCTION IN DOMESTIC ANIMALS Volume: 49 Special Issue: SI Supplement: 3 Pages: 42-42 Meeting Abstract: WS 10.2 Published: SEP 2014
9. Hypoplasia of Internal Carotid Artery
Chen, Pei-Ya; Liu, Hung-Yu; Lin, Shinn-Kuang
CEREBROVASCULAR DISEASES Volume: 38 Supplement: 1 Pages: 14-15 Meeting Abstract: S09-O2 Published: SEP 2014
10. The clinical and EEG features and mutation analysis in a Chinese patient with severe hypoplasia of the cerebellum and pons
Wang, Meng-Yang; Liu, Xing-Zhou; Wang, Jing; et al.
NEUROLOGY ASIA Volume: 19 Issue: 3 Pages: 319-322 Published: SEP 2014
11. Renal Agenesis And Hypoplasia In Humans Are Not Associated Glial Cell Line-derived Neurotrophic Factor
Evrengul, Havva; Ertan, Pelin; Serdaroglu, Erkin; et al.
PEDIATRIC NEPHROLOGY Volume: 29 Issue: 9 Pages: 1846-1846 Meeting Abstract: P530 Published: SEP 2014
12. Seminal Vesicle Hypoplasia With Contralateral Renal Agenesis
Resorlu, Mustafa; Adam, Gurhan; Uysal, Fatma; et al.
UROLOGY Volume: 84 Issue: 3 Pages: E7-E7 Published: SEP 2014
13. Optic nerve hypoplasia in children and adolescents; prevalence, ocular characteristics and behavioural problems
Fahnehjelm, Kristina Tear; Dahl, Sara; Martin, Lene; et al.
ACTA OPHTHALMOLOGICA Volume: 92 Issue: 6 Pages: 563-570 Published: SEP 2014
14. Vaginal dilation treatment in women with vaginal hypoplasia: a prospective one-year follow-up study
Callens, Nina; Weyers, Steven; Monstrey, Stan; et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY Volume: 211 Issue: 3 Article Number: 228.e1 Published: SEP 2014
15. Doppler parameters of fetal lung hypoplasia and impact of sildenafil
Yamamoto, Yuka; Thebaud, Bernard; Vadivel, Arul; et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY Volume: 211 Issue: 3 Article Number: 263.e1 Published: SEP 2014
16. MicroRNA expression profile in intrauterine hypoxia-induced pulmonary hypoplasia in rats
Huo, Huiyi; Luo, Ziqiang; Wang, Mingjie; et al.
EXPERIMENTAL AND THERAPEUTIC MEDICINE Volume: 8 Issue: 3 Pages: 747-753 Published: SEP 2014
17. A familial late-onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation
Qian, Yi; Wang, Haiyong; Jin, Tao; et al.
MOLECULAR MEDICINE REPORTS Volume: 10 Issue: 3 Pages: 1423-1425 Published: SEP 2014
18. Earlier Evidence of Spheno-Occipital Synchondrosis Fusion Correlates with Severity of Midface Hypoplasia in Patients with Syndromic Craniosynostosis
Goldstein, Jesse A.; Paliga, J. Thomas; Wink, Jason D.; et al.
PLASTIC AND RECONSTRUCTIVE SURGERY Volume: 134 Issue: 3 Pages: 504-510 Published: SEP 2014
19. Skeletal manifestations of stress in child victims of the Great Irish Famine (1845-1852): Prevalence of enamel hypoplasia, Harris lines, and growth retardation
Geber, Jonny
AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY Volume: 155 Issue: 1 Pages: 149-161 Published: SEP 2014
20. Bilateral hypoplasia of the minor tubercle of the humerus with medial luxation of the biceps tendon in two Quarter Horses
Lund, C. M.; Ragle, C. A.; Rice, H. C.; et al.
EQUINE VETERINARY EDUCATION Volume: 26 Issue: 9 Pages: 467-472 Published: SEP 2014
21. Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism
Vincenzi, Monica; Camilot, Marta; Ferrarini, Eleonora; et al.
BMC ENDOCRINE DISORDERS Volume: 14 Article Number: 69 Published: AUG 22 2014
22. Efeitos de ensino envolvendo equivalência entre palavra ditada, palavra escrita e objeto sobre a inteligibilidade da fala em adolescente com hipoplasia cerebelar
Effects of teaching equivalent relations between dictated words, written words, and objects on speech intelligibility in adolescents with cerebellar hypoplasia
Neves, Anderson Jonas das; Verdu, Ana Claudia Moreira Almeida
Revista CEFAC Volume: 16 Issue: 4 Pages: 1340-1350 Published: 2014-08
23. The Interesting Case: Unilateral Hypoplasia of the Breast in Becker Nevus Syndrome
Schneider, M. E.; Draths, R.; Fritsche, E.; et al.
HANDCHIRURGIE MIKROCHIRURGIE PLASTISCHE CHIRURGIE Volume: 46 Issue: 4 Pages: 266-267 Published: AUG 2014
24. Skeletal Muscle Hypoplasia Represents the Only Significant Lesion in Peripheral Organs of Ruminants Infected with Schmallenberg Virus during Gestation
Seehusen, F.; Hahn, K.; Herder, V.; et al.
JOURNAL OF COMPARATIVE PATHOLOGY Volume: 151 Issue: 2-3 Pages: 148-152 Published: AUG-OCT 2014
25. Exome Sequencing Identifies Compound Heterozygous Mutations in C12orf57 in Two Siblings With Severe Intellectual Disability, Hypoplasia of the Corpus Callosum, Chorioretinal Coloboma, and Intractable Seizures
Platzer, Konrad; Huening, Irina; Obieglo, Carolin; et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A Volume: 164A Issue: 8 Pages: 1976-1980 Published: AUG 2014
26. Spontaneous Testicular Tubular Hypoplasia/Atrophy in the Gottingen Minipig: A Retrospective Study
Thuilliez, Celine; Tortereau, Antonin; Perron-Lepage, Marie-France; et al.
TOXICOLOGIC PATHOLOGY Volume: 42 Issue: 6 Pages: 1024-1031 Published: AUG 2014
27. ROLE OF N-METHYL-D-ASPARTATE RECEPTOR IN INTRAUTERINE HYPOXIA-INDUCED PULMONARY HYPOPLASIA
Huo, Huiyi; Zhou, Xiaochen; Yue, Shaojie; et al.
Conference: 22nd Annual Meeting of the Israel-Society-for-Neuroscience (ISFN) / 2nd Bi National Italy-Israel Neuroscience Meeting Location: Eilat, ISRAEL Date: DEC 14-17, 2013
Sponsor(s): Israel Soc Neuroscience
JOURNAL OF MOLECULAR NEUROSCIENCE Volume: 53 Supplement: 1 Pages: S174-S174 Published: AUG 2014
28. Correction of Pectus Excavatum With Breast Hypoplasia Using Simultaneous Pectus Bar Procedure and Augmentation Mammoplasty
Park, Hyung Joo; Gu, Ja Hea; Jang, Joon Chul; et al.
ANNALS OF PLASTIC SURGERY Volume: 73 Issue: 2 Pages: 190-195 Published: AUG 2014
29. Cortical Hypoplasia and Ventriculomegaly of p73-Deficient Mice: Developmental and Adult Analysis
Medina-Bolivar, Carolina; Gonzalez-Arnay, Emilio; Talos, Flaminia; et al.
JOURNAL OF COMPARATIVE NEUROLOGY Volume: 522 Issue: 11 Pages: 2663-2679 Published: AUG 1 2014
30. Localised Primary Canine Hypoplasia: Implications for Maternal and Infant Health at Man Bac, Vietnam, 4000-3500years BP
McDonell, Amy; Oxenham, Marc F.
INTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY Volume: 24 Issue: 4 Pages: 531-539 Published: JUL-AUG 2014
31. Microstructural defects and enamel hypoplasia in teeth of Toxodon Owen, 1837 from the Pleistocene of Southern Brazil
Braunn, Patricia R.; Ribeiro, Ana M.; Ferigolo, Jorge
LETHAIA Volume: 47 Issue: 3 Pages: 418-431 Published: JUL 2014
32. A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia
Rojek, Aleksandra; Flader, Maciej; Malecka, Elzbieta; et al.
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM Volume: 13 Issue: 3 Pages: 413-419 Published: JUL-SEP 2014
33. Insights into the coexistence of two mutations in the same LHCGR gene locus causing severe Leydig cell hypoplasia
Athanasoulia, Anastasia P.; Stalla, Guenter K.; Auer, Matthias K.
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM Volume: 13 Issue: 3 Pages: 424-429 Published: JUL-SEP 2014
34. Tooth Enamel Hypoplasia in PHACE Syndrome
Chiu, Yvonne E.; Siegel, Dawn H.; Drolet, Beth A.; et al.
PEDIATRIC DERMATOLOGY Volume: 31 Issue: 4 Pages: 455-458 Published: JUL-AUG 2014
35. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia
Boczonadi, Veronika; Mueller, Juliane S.; Pyle, Angela; et al.
NATURE COMMUNICATIONS Volume: 5 Article Number: 4287 Published: JUL 2014
36. Epiglottic Hypoplasia: A Natural Model for Supraglottic Laryngoplasty
Mohamad, Shwan; Khan, Imran; Muddaiah, Anand; et al.
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN Volume: 24 Issue: 7 Pages: 528-529 Published: JUL 2014
37. Successful testicular sperm recovery and IVF treatment in a man with Leydig cell hypoplasia
Bakircioglu, M. E.; Tulay, P.; Findikli, N.; et al.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS Volume: 31 Issue: 7 Pages: 817-821 Published: JUL 2014
38. New Neonatal Classification of Unilateral Cleft Lip and Palate-Part 1: To Predict Primary Lateral Incisor Agenesis and Inherent Tissue Hypoplasia
Delestan, Christian; Montoya, Pedro; Doucet, Jean-Charles; et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL Volume: 51 Issue: 4 Pages: 392-399 Published: JUL 2014
39. A novel osteogenic distraction device for the transversal correction of temporozygomatic hypoplasia
Pagnoni, Mario; Fadda, Maria Teresa; Cascone, Piero; et al.
JOURNAL OF CRANIO-MAXILLOFACIAL SURGERY Volume: 42 Issue: 5 Pages: 616-622 Published: JUL 2014
40. Changing the Facial Features of Patients With Treacher Collins Syndrome Protocol for 3-Stage Treatment of Hard and Soft Tissue Hypoplasia in the Upper Half of the Face
Mitsukawa, Nobuyuki; Saiga, Atsuomi; Satoh, Kaneshige
ANNALS OF PLASTIC SURGERY Volume: 73 Issue: 1 Pages: 39-42 Published: JUL 2014
41. Age at Death and Linear Enamel Hypoplasias: Testing the Effects of Childhood Stress and Adult Socioeconomic Circumstances in Premature Mortality
Amoroso, Alexandra; Garcia, Susana J.; Cardoso, Hugo F. V.
AMERICAN JOURNAL OF HUMAN BIOLOGY Volume: 26 Issue: 4 Pages: 461-468 Published: JUL-AUG 2014
42. Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum
Jang, Michelle S.; Roldan, Ashley N.; Frausto, Ricardo F.; et al.
VISION RESEARCH Volume: 100 Pages: 88-92 Published: JUL 2014
43. Novel Technique of Portal Vein Reconstruction in Pediatric Liver Transplantation with Portal Vein Hypoplasia
Yi, Nam-Joon; Lee, Jeong-Moo; Suh, Suk-Won; et al.
Conference: Joint International Congress of ILTS, ELITA and LICAGE Location: London, ENGLAND Date: JUN 04-07, 2014
Sponsor(s): ILTS; ELITA; LICAGE
LIVER TRANSPLANTATION Volume: 20 Supplement: 1 Pages: S358-S358 Meeting Abstract: P-669 Published: JUN 2014
44. Brainstem Tegmental Necrosis and Olivary Hypoplasia: Raising Awareness of a Rare Neuropathologic Correlate of Congenital Apnea
Katsetos, Christos D.; Anderson, Carol E.; Guzman, Miguel A.; et al.
SEMINARS IN PEDIATRIC NEUROLOGY Volume: 21 Issue: 2 Pages: 177-183 Published: JUN 2014
45. Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts
Abumansour, Iman S.; Wrogemann, Jens; Chudley, Albert E.; et al.
JOURNAL OF CHILD NEUROLOGY Volume: 29 Issue: 6 Pages: 860-864 Published: JUN 2014
46. Pontocerebellar hypoplasia
Rudnik-Schoeneborn, Sabine; Barth, Peter G.; Zerres, Klaus
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS Volume: 166 Issue: 2 Special Issue: SI Pages: 173-183 Published: JUN 2014
47. Cerebellar hypoplasia: Differential diagnosis and diagnostic approach
Poretti, Andrea; Boltshauser, Eugen; Doherty, Dan
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS Volume: 166 Issue: 2 Special Issue: SI Pages: 211-226 Published: JUN 2014
48. A New Mutation in the Promoter Region of the PAX8 Gene Causes True Congenital Hypothyroidism with Thyroid Hypoplasia in a Girl with Down's Syndrome
Hermanns, Pia; Shepherd, Scott; Mansor, Mohamed; et al.
THYROID Volume: 24 Issue: 6 Pages: 939-944 Published: JUN 2014
49. Cardiac Magnetic Resonance Imaging of Left Ventricular Apical Hypoplasia in Two Complex Congenital Clinical Syndromes
Baroni, Matteo; Pedrotti, Patrizia; Nava, Stefano; et al.
CIRCULATION JOURNAL Volume: 78 Issue: 6 Pages: 1507-1509 Published: JUN 2014
50. The Spheno-Occipital Synchondrosis Fuses Prematurely in Patients With Crouzon Syndrome and Midface Hypoplasia Compared With Age- and Gender-Matched Controls
Tahiri, Youssef; Paliga, J. Thomas; Vossough, Arastoo; et al.
JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY Volume: 72 Issue: 6 Pages: 1173-1179 Published: JUN 2014
51. Natural course of pontocerebellar hypoplasia type 2A
Sanchez-Albisua, Iciar; Froelich, Saskia; Barth, Peter G.; et al.
ORPHANET JOURNAL OF RARE DISEASES Volume: 9 Article Number: 70 Published: MAY 5 2014
52. Nephrocalcinosis Associated with Continuous Enamel Hypoplasia and Severe Alveolar Bone Loss: A Case Report and Literature Review
Ashkenazi, Malka; Rafe, Zvi; Sarnat, Haim; et al.
PEDIATRIC DENTISTRY Volume: 36 Issue: 3 Pages: 250-253 Published: MAY-JUN 2014
53. IMAGe Association: Report of Two Cases in Siblings with Adrenal Hypoplasia and Review of the Literature
Phillips, Katherine; Arroyo, May R.; Duckworth, Lizette Vila
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY Volume: 17 Issue: 3 Pages: 204-208 Published: MAY-JUN 2014
54. Hypoplasia of internal carotid artery associated with carotid paraganglioma. A case report and review of the literature
Ruiz-Mercado, Hector; Maldonado-Hernandez, Hector; Antonio Cruz-Gonzalez, Juan
CIRUGIA Y CIRUJANOS Volume: 82 Issue: 3 Pages: 302-308 Published: MAY-JUN 2014
55. Variation in perikymata counts between repetitive episodes of linear enamel hypoplasia among orangutans from Sumatra and Borneo
Skinner, Mark F.
AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY Volume: 154 Issue: 1 Pages: 125-139 Published: MAY 2014
56. THE CRUCIAL ROLE OF IRON METABOLISM IN ERYHTROID HYPOPLASIA/PURE RED CELL APLASIA DUE TO THE DEVELOPMENT OF ANTI-EPO ANTIBODIES
Garrido, Patricia; Fernandes, Joao C.; Ribeiro, Sandra; et al.
Conference: 51st Congress of the European-Renal-Association(ERA)/European-Dialysis-and-Transplant-Association (EDTA) Location: Amsterdam, NETHERLANDS Date: MAY 31-JUN 03, 2014
Sponsor(s): European Renal Assoc; European Dialysis & Transplant Assoc
NEPHROLOGY DIALYSIS TRANSPLANTATION Volume: 29 Supplement: 3 Pages: 344-344 Meeting Abstract: MP048 Published: MAY 2014
57. Maxillary Distraction Osteogenesis in Cleft Lip and Palate Cases With Midface Hypoplasia Using Rigid External Distractor: An Alternative Technique
Dua, Gaurav; Kumar, Andrews Navin; Roy, Indranil Deb; et al.
JOURNAL OF CRANIOFACIAL SURGERY Volume: 25 Issue: 3 Pages: 746-751 Published: MAY 2014
58. The Distraction Osteogenesis in Midfacial Hypoplasia
Lucchese, Alessandra; Gherlone, Enrico F.; Asperio, Paolo; et al.
JOURNAL OF CRANIOFACIAL SURGERY Volume: 25 Issue: 3 Pages: 831-834 Published: MAY 2014
59. Le Fort II Midfacial Distraction Combined With Orthognathic Surgery in the Treatment of Nasomaxillary Hypoplasia
Yu, Hongbo; Dai, Jiewen; Wang, Xudong; et al.
JOURNAL OF CRANIOFACIAL SURGERY Volume: 25 Issue: 3 Pages: E241-E244 Published: MAY 2014
60. Vertebral Artery Hypoplasia Frequency and Effect on Cerebellar Blood Flow Characteristics
Thierfelder, Kolja M.; Baumann, Alena B.; Sommer, Wieland H.; et al.
STROKE Volume: 45 Issue: 5 Pages: 1363-1368 Published: MAY 2014
61. Absence of age-related optic disk changes in young children with optic nerve hypoplasia
Sutedja, J.; Garcia-Filion, P.; Fink, C.; et al.
EYE Volume: 28 Issue: 5 Pages: 562-566 Published: MAY 2014
62. Re: Ramakrishnaiah et al.: Reliability of magnetic resonance imaging for the detection of hypopituitarism in children with optic nerve hypoplasia (Ophthalmology 2014;121:387-91)
Borchert, Mark; Garcia-Filion, Pamela; Fink, Cassandra; et al.
OPHTHALMOLOGY Volume: 121 Issue: 5 Pages: E26-E27 Published: MAY 2014
63. Re: Ramakrishnaiah et al.: Reliability of magnetic resonance imaging for the detection of hypopituitarism in children with optic nerve hypoplasia reply
Phillips, Paul H.; Ramakrishnaiah, Raghu H.; Glasier, Charles M.
OPHTHALMOLOGY Volume: 121 Issue: 5 Pages: E27-E27 Published: MAY 2014
64. Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation
Perez, Yonatan; Gradstein, Libe; Flusser, Hagit; et al.
EUROPEAN JOURNAL OF HUMAN GENETICS Volume: 22 Issue: 5 Pages: 703-706 Published: MAY 2014
65. Unusual congenital pulmonary anomaly with presumed left lung hypoplasia in a young dog
Lee, C. M.; Kim, J. H.; Kang, M. H.; et al.
JOURNAL OF SMALL ANIMAL PRACTICE Volume: 55 Issue: 5 Pages: 274-277 Published: MAY 2014
66. A1 segment hypoplasia accompanied by AcomA aneurysms assessed with magnetic resonance angiography
Chen, Hao; Li, Ming-Hua
SURGICAL AND RADIOLOGIC ANATOMY Volume: 36 Issue: 4 Pages: 353-357 Published: MAY 2014
67. Cerebellar Hypoplasia in Mice Lacking Selenoprotein Biosynthesis in Neurons
Wirth, Eva K.; Bharathi, B. Suman; Hatfield, Dolph; et al.
BIOLOGICAL TRACE ELEMENT RESEARCH Volume: 158 Issue: 2 Pages: 203-210 Published: MAY 2014
68. Le Fort III Distraction Osteogenesis Versus Conventional Le Fort III Osteotomy in Correction of Syndromic Midfacial Hypoplasia: A Systematic Review
Saltaji, Humam; Altalibi, Mostafa; Major, Michael P.; et al.
JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY Volume: 72 Issue: 5 Pages: 959-972 Published: MAY 2014
69. Skeletal Muscle Characterization of Japanese Quail Line Selectively Bred for Lower Body Weight as an Avian Model of Delayed Muscle Growth with Hypoplasia
Choi, Young Min; Suh, Yeunsu; Shin, Sangsu; et al.
PLOS ONE Volume: 9 Issue: 4 Article Number: e95932 Published: APR 24 2014
70. Pulmonary Hypoplasia Associated with Congenital Heart Diseases: A Fetal Study
Ruchonnet-Metrailler, Isabelle; Bessieres, Bettina; Bonnet, Damien; et al.
PLOS ONE Volume: 9 Issue: 4 Article Number: e93557 Published: APR 3 2014
71. Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid(3) ciliopathy mutant
Davey, Megan G.; McTeir, Lynn; Barrie, Andrew M.; et al.
ORGANOGENESIS Volume: 10 Issue: 2 Pages: 177-185 Published: APR-JUN 2014
72. Primer caso reportado en Colombia de hipoplasia renal congénita bilateral en dos hermanos
The first case to be reported in Colombia of bilateral congenital renal hypoplasia in two brothers
Urrego-Díaz, José Augusto; Romero-Rueda, José David; Landinez-Millán, Guillermo; et al.
Revista Facultad de Medicina de la Universidad Nacional de Colombia Volume: 62 Issue: 2 Pages: 279-285 Published: 2014-04
73. A clue in the diagnosis of Cri-du-chat syndrome: Pontine hypoplasia
Uzunhan, Tugce Aksu; Sayinbatur, Bahattin; Caliskan, Mine; et al.
ANNALS OF INDIAN ACADEMY OF NEUROLOGY Volume: 17 Issue: 2 Pages: 209-210 Published: APR-JUN 2014
74. Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia
Young, Marielle P.; Sawyer, Briana L.; Hartnett, M. Elizabeth
JOURNAL OF AAPOS Volume: 18 Issue: 2 Pages: 205-207 Published: APR 2014
75. Isolated Foveal Hypoplasia: Clinical Presentation and Imaging Findings
Karaca, Emine Esra; Cubuk, Mehmet Ozgur; Ekici, Feyzahan; et al.
OPTOMETRY AND VISION SCIENCE Volume: 91 Issue: 4 Supplement: 1 Pages: S61-S65 Published: APR 2014
76. Hypoplasia of the Posterior Mitral Leaflet Concurrent With a Supravalvular Mitral Ring: A Rare Cause of Congenital Mitral Stenosis
Zhang, Jing; Sun, Feifei; Ren, Weidong; et al.
JOURNAL OF ULTRASOUND IN MEDICINE Volume: 33 Issue: 4 Pages: 736-738 Published: APR 2014
77. Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 2
Battini, Roberta; D'Arrigo, Stefano; Cassandrini, Denise; et al.
JOURNAL OF CHILD NEUROLOGY Volume: 29 Issue: 4 Pages: 520-525 Published: APR 2014
78. Detection of hypoplasia of bony cochlear nerve canal by the opening threshold of virtual endoscopy: a pilot study
Quan, Yong; Liu, Jie; Liu, Zhaoyu; et al.
ACTA RADIOLOGICA Volume: 55 Issue: 3 Pages: 318-324 Published: APR 2014
79. Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome
Uroic, Anita Spehar; Kotori, Vjosa Mulliqi; Putarek, Natasa Rojnic; et al.
EUROPEAN JOURNAL OF PEDIATRICS Volume: 173 Issue: 4 Pages: 529-531 Published: APR 2014
80. A Case of Cerebellar Vermian Hypoplasia Presenting With Spontaneous Confabulation and Erotomania
Lee, Daniel J.; Rodgers, Joshua J.; Schrift, Michael J.
JOURNAL OF NEUROPSYCHIATRY AND CLINICAL NEUROSCIENCES Volume: 26 Issue: 2 Pages: 17-17 Meeting Abstract: P57 Published: SPR 2014
81. Hipoplasia tímica en un niño con fibrosis quística
Thymic hypoplasia in an infant with cystic fibrosis
de la Guardia-Peña, Odalis; Ustariz-García, Catalino; García-García, María de los Á; et al.
Revista Cubana de Hematología, Inmunología y Hemoterapia Volume: 30 Issue: 1 Pages: 74-80 Published: 2014-03
82. Focal Dermal Hypoplasia Without Focal Dermal Hypoplasia
Contreras-Capetillo, Silvina N.; Lombardi, Maria Paola; Pinto-Escalante, Doris; et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A Volume: 164 Issue: 3 Pages: 778-781 Published: MAR 2014
83. Development a New Prenatal Parameter Predicting Fetal Lung Hypoplasia in Congenital Diaphragmatic Hernia
Tsuda, Hiroyuki; Kotani, Tomomi; Sumigama, Seiji; et al.
REPRODUCTIVE SCIENCES Volume: 21 Issue: 3 Supplement: S Pages: 375A-375A Published: MAR 2014
84. Basilar invagination secondary to hypoplasia of the clivus - Is there indication for craniocervical fixation?
Invaginación basilar secundaria a la hipoplasia del clivus - ¿Hay indicación para la fijación cráneo-cervical?
Invaginação basilar secundária à hipoplasia do clivo - Há indicação para fixação crânio-cervical?
Joaquim, Andrei Fernandes; Ghizoni, Enrico; Almeida, João Paulo; et al.
Coluna/Columna Volume: 13 Issue: 1 Pages: 69-70 Published: 2014-03
85. Utilizing Optical Coherence Tomography in Diagnosing a Unique Presentation of Chiasmal Hypoplasia Variant of Septo-Optic Dysplasia
Epstein, Aliza E.; Cavuoto, Kara M.; Chang, Ta C.
JOURNAL OF NEURO-OPHTHALMOLOGY Volume: 34 Issue: 1 Pages: 103-104 Published: MAR 2014
86. A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot
Nakamura, Kazuyuki; Nishiyama, Kiyomi; Kodera, Hirofumi; et al.
BRAIN & DEVELOPMENT Volume: 36 Issue: 3 Pages: 272-273 Published: MAR 2014
87. A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism
Wang, Chun Lin; Fen, Zhu Wei; Liang, Li
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM Volume: 27 Issue: 3-4 Pages: 343-347 Published: MAR 2014
88. Focal Dermal Hypoplasia: Report of a Case with Myelomeningocele, Arnold- Chiari Malformation and Hydrocephalus with a Review of Neurologic Manifestations of Goltz Syndrome
Peters, Tess; Perrier, Renee; Haber, Richard M.
PEDIATRIC DERMATOLOGY Volume: 31 Issue: 2 Pages: 220-224 Published: MAR 2014
89. IMAGING DIAGNOSIS- CELIACOMESENTERIC TRUNK AND PORTAL VEIN HYPOPLASIA IN A PIT BULL TERRIER
Ricciardi, Mario; Martino, Rosmara; Abu Assad, Eyad
VETERINARY RADIOLOGY & ULTRASOUND Volume: 55 Issue: 2 Pages: 190-194 Published: MAR 2014
90. Association between linear enamel hypoplasias and body composition in rural youths from Yucatan
Gurri, Francisco D.
Conference: 83rd Annual Meeting of the American-Association-of-Physical-Anthropologists Location: Calgary, CANADA Date: APR 08-12, 2014
Sponsor(s): Amer Assoc Phys Anthropologists
AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY Volume: 153 Special Issue: SI Supplement: 58 Pages: 132-133 Published: MAR 2014
91. Health and hypoplasia: Lines from Northeast China
Merrett, Deborah C.; Zhang, Grace Hua; Xiao, Xiaoming; et al.
Conference: 83rd Annual Meeting of the American-Association-of-Physical-Anthropologists Location: Calgary, CANADA Date: APR 08-12, 2014
Sponsor(s): Amer Assoc Phys Anthropologists
AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY Volume: 153 Special Issue: SI Supplement: 58 Pages: 184-184 Published: MAR 2014
92. Systemic stress in the Ohio River Valley during the early Contact period: Enamel hypoplasia and delayed growth at Neale's Landing, Blennerhassett Island, West Virginia
Weinstein, Karen J.; Ehrlich, Daniel; Wolfe, Christopher
Conference: 83rd Annual Meeting of the American-Association-of-Physical-Anthropologists Location: Calgary, CANADA Date: APR 08-12, 2014
Sponsor(s): Amer Assoc Phys Anthropologists
AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY Volume: 153 Special Issue: SI Supplement: 58 Pages: 269-269 Published: MAR 2014
93. Improved Imaging of Cochlear Nerve Hypoplasia Using a 3-Tesla Variable Flip-Angle Turbo Spin-Echo Sequence and a 7-cm Surface Coil
Giesemann, Anja M.; Raab, Peter; Lyutenski, Stefan; et al.
LARYNGOSCOPE Volume: 124 Issue: 3 Pages: 751-754 Published: MAR 2014
94. Missing Defects? A Comparison of Microscopic and Macroscopic Approaches to Identifying Linear Enamel Hypoplasia
Hassett, Brenna R.
AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY Volume: 153 Issue: 3 Pages: 463-472 Published: MAR 2014
95. Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation
Thomas, Shery; Thomas, Mervyn G.; Andrews, Caroline; et al.
EUROPEAN JOURNAL OF HUMAN GENETICS Volume: 22 Issue: 3 Pages: 344-349 Published: MAR 2014
96. Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia
Lim, Sing-Hui; St Germain, Elizabeth; Khanh-Nhat Tran-Viet; et al.
OPHTHALMIC GENETICS Volume: 35 Issue: 1 Pages: 1-6 Published: MAR 2014
97. EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations
Eggens, Veerle R. C.; Barth, Peter G.; Niermeijer, Jikke-Mien F.; et al.
ORPHANET JOURNAL OF RARE DISEASES Volume: 9 Article Number: 23 Published: FEB 13 2014
98. Maxillary Hypoplasia in the Cleft Patient: Contribution of Orthodontic Dental Space Closure to Orthognathic Surgery
Lee, Justine C.; Slack, Ginger C.; Walker, Ryann; et al.
PLASTIC AND RECONSTRUCTIVE SURGERY Volume: 133 Issue: 2 Pages: 355-361 Published: FEB 2014
99. Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients
Kainulainen, Leena; Lassila, Olli; Ruuskanen, Olli
JOURNAL OF CLINICAL IMMUNOLOGY Volume: 34 Issue: 2 Pages: 256-259 Published: FEB 2014
100. Inferior vena cava hypoplasia with right hepatic vein and accessory inferior hepatic vein shunt
Cullu, N.; Yeniceri, O.; Deveer, M.; et al.
FOLIA MORPHOLOGICA Volume: 73 Issue: 1 Pages: 99-101 Published: FEB 2014
101. Inferior vermian hypoplasia - preconception, misconception
Robinson, Ashley J.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY Volume: 43 Issue: 2 Pages: 123-136 Published: FEB 2014
102. Expression of Eya1 and Six1 is decreased in distal airways of rats with experimental pulmonary hypoplasia
Friedmacher, Florian; Fujiwara, Naho; Hofmann, Alejandro Daniel; et al.
JOURNAL OF PEDIATRIC SURGERY Volume: 49 Issue: 2 Pages: 301-304 Published: FEB 2014
103. Repetitive MR measurements of lung volume in fetuses with congenital diaphragmatic hernia: individual development of pulmonary hypoplasia during pregnancy and calculation of weekly lung growth rates
Hagelstein, Claudia; Weidner, Meike; Kilian, A. Kristina; et al.
EUROPEAN RADIOLOGY Volume: 24 Issue: 2 Pages: 312-319 Published: FEB 2014
104. Retrospective analysis of incidence of peroneal artery hypoplasia in 101 free fibula transfers and new classification of popliteal branch anomalies
Longo, Benedetto; Sorotos, Michail; Nicolotti, Matteo; et al.
INJURY-INTERNATIONAL JOURNAL OF THE CARE OF THE INJURED Volume: 45 Issue: 2 Pages: 394-398 Published: FEB 2014
105. Anesthetic implications of infants with mandibular hypoplasia treated with mandibular distraction osteogenesis
Breugem, Corstiaan C.; de Graaff, Jurgen
PEDIATRIC ANESTHESIA Volume: 24 Issue: 2 Pages: 227-228 Published: FEB 2014
106. Rebuttal to Breugem et al.'s comment on Anesthetic implications of infants with mandibular hypoplasia treated with mandibular distraction osteogenesis
Frawley, Geoff; Shand, Jocelyn; Heggie, Andrew
PEDIATRIC ANESTHESIA Volume: 24 Issue: 2 Pages: 228-229 Published: FEB 2014
107. Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia
Rogler, Leslie E.; Kosmyna, Brian; Moskowitz, David; et al.
HUMAN MOLECULAR GENETICS Volume: 23 Issue: 2 Pages: 368-382 Published: JAN 15 2014
108. Cerebral cortical hypoplasia with abnormal morphology of pyramidal neuron in growth-retarded mouse (grt/grt)
Horiuchi-Hirose, Miwa; Saito, Shigeyoshi; Sato, Chika; et al.
ACTA NEUROBIOLOGIAE EXPERIMENTALIS Volume: 74 Issue: 3 Pages: 242-256 Published: 2014
109. Preparing injectable composition useful for e.g. correcting mammary hypoplasia, involves contacting hyaluronic acid (HA) with cross-linker, contacting crosslinked HA with collagen and homogenizing mixture
Patent Number: US2014227361-A1
Patent Assignee: ALLERGAN INC
Inventor(s): SCHROEDER J A; DAPPER G S; OLSON K C.
110. Age of linear enamel hypoplasia formation based on Massler and colleagues' and Reid and Dean's standards in a Polish sample dated to 13th-18th century CE
Lukasik, S.; Krenz-Niedbala, M.
HOMO-JOURNAL OF COMPARATIVE HUMAN BIOLOGY Volume: 65 Issue: 4 Pages: 296-310 Published: 2014
111. Vertebral artery hypoplasia and the possible mechanisms of ischemic stroke in the posterior circulation
Szarazova, A. Skultety; Turcani, P.
CEREBROVASCULAR DISEASES Volume: 37 Supplement: 2 Pages: 36-36 Meeting Abstract: t Published: 2014
112. Hypoplasia of the internal carotid artery: A challenge for neurosonology
Hernandez Martinez, J. J.; Fortuna Alcaraz, L.; Sanchez Moya, M. E.; et al.
CEREBROVASCULAR DISEASES Volume: 37 Supplement: 2 Pages: 40-40 Published: 2014
113. A case of internal carotid artery hypoplasia: Duplex ultrasonographic findings
Lee, J. Y.
CEREBROVASCULAR DISEASES Volume: 37 Supplement: 2 Pages: 40-40 Published: 2014
114. Evaluation of Treatment Outcome in Cleft Maxillary Hypoplasia Treated by Rigid External Distractor: A Cephalometric Study
Sahoo, Nandakishore; Desai, Ajay Premanand; Jayan, Balakrishnan; et al.
JOURNAL OF CRANIOFACIAL SURGERY Volume: 25 Issue: 1 Pages: 143-148 Published: JAN 2014
115. Premature Closure of the Spheno-occipital Synchondrosis in Pfeiffer Syndrome: A Link to Midface Hypoplasia
Paliga, James Thomas; Goldstein, Jesse A.; Vossough, Arastoo; et al.
JOURNAL OF CRANIOFACIAL SURGERY Volume: 25 Issue: 1 Pages: 202-205 Published: JAN 2014
116. Mutations in the Pendred Syndrome (PDS/SLC26A) Gene: An Increasingly Complex Phenotypic Spectrum From Goiter to Thyroid Hypoplasia
Kopp, Peter
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM Volume: 99 Issue: 1 Pages: 67-69 Published: JAN 2014
117. Protocol for Recording Enamel Hypoplasia in Modern and Archaeological Caprine Populations
Upex, Bethan; Balasse, Marie; Tresset, Anne; et al.
INTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY Volume: 24 Issue: 1 Pages: 79-89 Published: JAN 2014
118. Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature
McCann, Liza J.; McPartland, Jo; Barge, Dawn; et al.
JOURNAL OF CLINICAL IMMUNOLOGY Volume: 34 Issue: 1 Pages: 42-48 Published: JAN 2014
119. Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation?
Fidzianska, Anna; Madej-Pilarczyk, Agnieszka; Hausmanowa-Petrusewicz, Irena
CLINICAL NEUROPATHOLOGY Volume: 33 Issue: 1 Pages: 61-64 Published: JAN-FEB 2014
120. MicroRNA-561 Promotes Acetaminophen-Induced Hepatotoxicity in HepG2 Cells and Primary Human Hepatocytes through Downregulation of the Nuclear Receptor Corepressor Dosage-Sensitive Sex-Reversal Adrenal Hypoplasia Congenital Critical Region on the X Chromosome, Gene 1 (DAX-1)
Li, Minghua; Yang, Yinxue; He, Zhi-Xu; et al.
DRUG METABOLISM AND DISPOSITION Volume: 42 Issue: 1 Pages: 44-61 Published: JAN 2014
121. Reliability of Magnetic Resonance Imaging for the Detection of Hypopituitarism in Children with Optic Nerve Hypoplasia
Ramakrishnaiah, Raghu H.; Shelton, Julie B.; Glasier, Charles M.; et al.
OPHTHALMOLOGY Volume: 121 Issue: 1 Pages: 387-391 Published: JAN 2014
122. TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia
Body-Bechou, Delphine; Loget, Philippe; D'Herve, Dominique; et al.
PRENATAL DIAGNOSIS Volume: 34 Issue: 1 Pages: 90-93 Published: JAN 2014
123. Autism assessment in children with optic nerve hypoplasia and other vision impairments
Williams, Marian E.; Fink, Cassandra; Zamora, Irina; et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY Volume: 56 Issue: 1 Pages: 66-72 Published: JAN 2014
124. Focal dermal hypoplasia: updates
Wang, L.; Jin, X.; Zhao, X.; et al.
ORAL DISEASES Volume: 20 Issue: 1 Pages: 17-24 Published: JAN 2014
125. Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome
Yu, Tian; Meiners, Linda C.; Danielsen, Katrin; et al.
ELIFE Volume: 2 Article Number: UNSP e01305 Published: DEC 24 2013
126. SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid
Parry, David A.; Logan, Clare V.; Stegmann, Alexander P. A.; et al.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 93 Issue: 6 Pages: 1135-1142 Published: DEC 5 2013
127. Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism
Poulter, James A.; Al-Araimi, Musallam; Conte, Ivan; et al.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 93 Issue: 6 Pages: 1143-1150 Published: DEC 5 2013
128. Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations
Kastrissianakis, Katherina; Anand, Geetha; Quaghebeur, Gerardine; et al.
ARCHIVES OF DISEASE IN CHILDHOOD Volume: 98 Issue: 12 Pages: 1004-1007 Published: DEC 2013
129. Focal dermal hypoplasia (Goltz-Gorlin syndrome): a Chinese case report and review of literature
Wu, K.; Zhang, W.; Huang, Y. X.; et al.
HONG KONG JOURNAL OF DERMATOLOGY & VENEREOLOGY Volume: 21 Issue: 4 Pages: 197-200 Published: WIN 2013
130. Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma
Schwabova, Jaroslava; Brozkova, Dana Safka; Petrak, Borivoj; et al.
JOURNAL OF NEUROGENETICS Volume: 27 Issue: 4 Pages: 163-169 Published: DEC 2013
131. A 2-month-old child with complex tracheal hypoplasia
De Cloedt, L.; Papadopoulos, J.; Corouge, P.; et al.
ARCHIVES DE PEDIATRIE Volume: 20 Issue: 12 Pages: 1321-1324 Published: DEC 2013
132. Treatment of cartilage-hair hypoplasia with recombinant human growth hormone
Obara-Moszynska, Monika; Wielanowska, Weronika; Rojek, Aleksandra; et al.
PEDIATRICS INTERNATIONAL Volume: 55 Issue: 6 Pages: E162-E164 Published: DEC 2013
133. Outcome following prenatal diagnosis of severe bilateral renal hypoplasia
Spaggiari, Emmanuel; Stirnemann, Julien J.; Heidet, Laurence; et al.
PRENATAL DIAGNOSIS Volume: 33 Issue: 12 Pages: 1167-1172 Published: DEC 2013
134. PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia?
Peter, Neena M.; Leyland, Martin; Mudhar, Hardeep S.; et al.
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY Volume: 41 Issue: 9 Pages: 835-841 Published: DEC 2013
135. The identification and measurement of autistic features in children with septo-optic dysplasia, optic nerve hypoplasia and isolated hypopituitarism
Jutley-Neilson, Jagjeet; Harris, Gillian; Kirk, Jeremy
RESEARCH IN DEVELOPMENTAL DISABILITIES Volume: 34 Issue: 12 Pages: 4310-4318 Published: DEC 2013
136. Complex congenital abdominal wall hypoplasia repaired with PTFE mesh using an abdominoplasty approach
Brown, Matthew; Armijo, Bryan; Nagaraj, Hirikati; et al.
JOURNAL OF PLASTIC RECONSTRUCTIVE AND AESTHETIC SURGERY Volume: 66 Issue: 12 Pages: E396-E398 Published: DEC 2013
137. Staged Transcatheter Treatment of Portal Hypoplasia and Congenital Portosystemic Shunts in Children
Bruckheimer, Elchanan; Dagan, Tamir; Atar, Eli; et al.
CARDIOVASCULAR AND INTERVENTIONAL RADIOLOGY Volume: 36 Issue: 6 Pages: 1580-1585 Published: DEC 2013
138. Identification of a 31-bp Deletion in the RELN Gene Causing Lissencephaly with Cerebellar Hypoplasia in Sheep
Suarez-Vega, Aroa; Gutierrez-Gil, Beatriz; Cuchillo-Ibanez, Inmaculada; et al.
PLOS ONE Volume: 8 Issue: 11 Article Number: UNSP e81072 Published: NOV 19 2013
139. Megakariocytic Hypoplasia Due To TKIs In a CML Patient Can Be Overcome By TPO Receptor Agonist Eltrombopag
Dolata, Wojciech K.
Conference: 55th Annual Meeting of the American-Society-of-Hematology Location: New Orleans, LA Date: DEC 07-10, 2013
Sponsor(s): Amer Soc Hematol
BLOOD Volume: 122 Issue: 21 Meeting Abstract: 5178 Published: NOV 15 2013
140. A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?
Ozcan, Deren; Derbent, Murat; Seckin, Deniz; et al.
ANNALS OF DERMATOLOGY Volume: 25 Issue: 4 Pages: 483-488 Published: NOV 2013
141. A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1
Al-Araimi, Musallam; Pal, Bishwanath; Poulter, James A.; et al.
MOLECULAR VISION Volume: 19 Pages: 2165-2172 Published: NOV 1 2013
142. West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation
Banne, Ehud; Atawneh, Osama; Henneke, Marco; et al.
JOURNAL OF MEDICAL GENETICS Volume: 50 Issue: 11 Pages: 772-775 Published: NOV 2013
143. Congenital Segmental Hypoplasia of the Spinal Cord in A Holstein Calf
Yildirim, Funda; Gurel, Aydin; Devecioglu, Yalcin; et al.
KAFKAS UNIVERSITESI VETERINER FAKULTESI DERGISI Volume: 19 Issue: 6 Pages: 1049-1052 Published: NOV-DEC 2013
144. Isolated Left Ventricular Apical Hypoplasia with Infundibular Pulmonary and Aortic Stenosis: a Rare Combination
Moon, Jin Il; Jeong, Yeon Joo; Lee, Geewon; et al.
KOREAN JOURNAL OF RADIOLOGY Volume: 14 Issue: 6 Pages: 874-877 Published: NOV-DEC 2013
145. Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome
Hong, Jin Ho; Lee, Ha Young; Lim, Myung Kwan; et al.
KOREAN JOURNAL OF RADIOLOGY Volume: 14 Issue: 6 Pages: 960-962 Published: NOV-DEC 2013
146. Clinical exome sequencing leads to the diagnosis of mitochondrial complex I deficiency in a family with global developmental delays, ataxia, and cerebellar and pons hypoplasia
Kimonis, Virginia; Gonzalez, Kelly; Zeng, Wenqi; et al.
MITOCHONDRION Volume: 13 Issue: 6 Pages: 942-942 Meeting Abstract: 120 Published: NOV 2013
147. Testicular hypoplasia in monochorionic dizygous twin with confined blood chimerism
Choi, Dong-Hee; Kwon, Hwang; Lee, Soong Deok; et al.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS Volume: 30 Issue: 11 Pages: 1487-1491 Published: NOV 2013
148. Spatiotemporal alterations in Sprouty-2 expression and tyrosine phosphorylation in nitrofen-induced pulmonary hypoplasia
Friedmacher, Florian; Gosemann, Jan-Hendrik; Fujiwara, Naho; et al.
JOURNAL OF PEDIATRIC SURGERY Volume: 48 Issue: 11 Pages: 2219-2225 Published: NOV 2013
149. CASE OF CARTILAGE-HAIR HYPOPLASIA DETECTED BY NEW YORK STATE NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCY
Andreae, D. A.; Cunningham-Rundles, C.
ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY Volume: 111 Issue: 5 Supplement: 1 Pages: A96-A96 Published: NOV 2013
150. Canalicular Wall Dysgenesis: The Clinical Profile of Canalicular Hypoplasia and Aplasia, Associated Systemic and Lacrimal Anomalies, and Clinical Implications
Ali, Mohammad Javed; Naik, Milind N.
OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY Volume: 29 Issue: 6 Pages: 464-468 Published: NOV-DEC 2013
151. Zygotic Porcn Paternal Allele Deletion in Mice to Model Human Focal Dermal Hypoplasia
Biechele, Steffen; Adissu, Hibret A.; Cox, Brian J.; et al.
PLOS ONE Volume: 8 Issue: 11 Article Number: UNSP e79139 Published: NOV 1 2013
152. Prenatal determinants of optic nerve hypoplasia: Review of suggested correlates and future focus
Garcia-Filion, Pamela; Borchert, Mark
SURVEY OF OPHTHALMOLOGY Volume: 58 Issue: 6 Pages: 610-619 Published: NOV-DEC 2013
153. Expression of Sproutys and SPREDs is decreased during lung branching morphogenesis in nitrofen-induced pulmonary hypoplasia
Friedmacher, Florian; Gosemann, Jan-Hendrik; Fujiwara, Naho; et al.
PEDIATRIC SURGERY INTERNATIONAL Volume: 29 Issue: 11 Pages: 1193-1198 Published: NOV 2013
154. Case report: cerebellar hypoplasia associated with bovine viral diarrhoea (BVD) virus infection in a calf, in Turkey
Gul, Y.; Issi, M.; Cevik, A.; et al.
REVUE DE MEDECINE VETERINAIRE Volume: 164 Issue: 10 Pages: 448-452 Published: OCT 2013
155. Bishosphonate-related enamel hypoplasia in a child with idiopathic arterial calcification of infancy
Iwai, Toshinori; Isomatsu, Yukihisa; Iwamoto, Mari; et al.
BRITISH JOURNAL OF ORAL & MAXILLOFACIAL SURGERY Volume: 51 Issue: 7 Pages: E186-E187 Published: OCT 2013
156. Optical coherence tomographic findings in optic nerve hypoplasia
Moon, Daruchi; Park, Tae Kwann
INDIAN JOURNAL OF OPHTHALMOLOGY Volume: 61 Issue: 10 Pages: 596-U104 Published: OCT 2013
157. Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria
Sajan, Samin A.; Fernandez, Liliana; Nieh, Sahar Esmaeeli; et al.
PLOS GENETICS Volume: 9 Issue: 10 Article Number: e1003823 Published: OCT 2013
158. Endovascular Stenting in Transverse Aortic Arch Hypoplasia
Pushparajah, Kuberan; Sadiq, Masood; Brzezinska-Rajszys, Grazyna; et al.
CATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS Volume: 82 Issue: 4 Pages: E491-E499 Published: OCT 1 2013
159. Biometry to Diagnose Inferior Vermian Hypoplasia Prenatally
Jacob, F. D.; Grant, P. E.; Soul, J. S.
Conference: 42nd Annual Meeting of the Child-Neurology-Society Location: Austin, TX Date: OCT 30-NOV 02, 2013
Sponsor(s): Child Neurol Soc
ANNALS OF NEUROLOGY Volume: 74 Special Issue: SI Supplement: 17 Pages: S175-S175 Published: OCT 2013
160. Failure of stem cell therapy to improve visual acuity in children with optic nerve hypoplasia
Fink, Cassandra; Garcia-Filion, Pamela; Borchert, Mark
JOURNAL OF AAPOS Volume: 17 Issue: 5 Pages: 490-493 Published: OCT 2013
161. First-Trimester Sonographic Findings Associated With a Dandy-Walker Malformation and Inferior Vermian Hypoplasia
Bornstein, Eran; Goncalves Rodriguez, Jose Luis; Alvarez Pavon, Erika Carolina; et al.
JOURNAL OF ULTRASOUND IN MEDICINE Volume: 32 Issue: 10 Pages: 1863-1868 Published: OCT 2013
162. Strabismus deorsoadductorius in a Case of Contralateral Superior Oblique Hypoplasia
Graef, M.; Holve, K.; Lorenz, B.
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE Volume: 230 Issue: 10 Pages: 995-997 Published: OCT 2013
163. Type II and IIIA Thumb Hypoplasia Reconstruction
Christen, Thierry; Dautel, Gilles
JOURNAL OF HAND SURGERY-AMERICAN VOLUME Volume: 38A Issue: 10 Pages: 2009-2015 Published: OCT 2013
164. Lissencephaly and cerebellar hypoplasia in a goat
Soares dos Santos, Jose Romulo; Medeiros Dantas, Antonio Flavio; Macedo Pessoa, Clarice Ricardo; et al.
CIENCIA RURAL Volume: 43 Issue: 10 Pages: 1858-1861 Published: OCT 2013
165. Prediction of lethal pulmonary hypoplasia among high-risk fetuses via 2D and 3D ultrasonography
Rezende, Guilherme de Castro; Pereira, Alamanda Kfoury; Araujo Junior, Edward; et al.
INTERNATIONAL JOURNAL OF GYNECOLOGY & OBSTETRICS Volume: 123 Issue: 1 Pages: 42-45 Published: OCT 2013
166. Hypoplasia of the parotid gland: computed tomography sialography diagnosis
Sun, Lisha; Sun, Zhipeng; Ma, Xuchen
ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY Volume: 116 Issue: 4 Pages: E297-E301 Published: OCT 2013
167. Ectopic KIT Copy Number Variation Underlies Impaired Migration of Primordial Germ Cells Associated with Gonadal Hypoplasia in Cattle (Bos taurus)
Venhoranta, Heli; Pausch, Hubert; Wysocki, Michal; et al.
PLOS ONE Volume: 8 Issue: 9 Article Number: e75659 Published: SEP 26 2013
168. Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences
Basson, M. Albert; Wingate, Richard J.
FRONTIERS IN NEUROANATOMY Volume: 7 Article Number: 29 Published: SEP 3 2013
169. Molecular Basis of the Clinical Features of Al-Awadi-Raas-Rothschild (Limb/Pelvis/Uterus-Hypoplasia/Aplasia) Syndrome (AARRS) and Fuhrmann Syndrome
Al-Qattan, M. M.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A Volume: 161 Issue: 9 Pages: 2274-2280 Published: SEP 2013
170. Isolated Horizontal Gaze Palsy With Congenital Pontine Hypoplasia
Vrushali, D.; Muralidhar, R.; Vijayalakshmi, P.; et al.
JOURNAL OF NEURO-OPHTHALMOLOGY Volume: 33 Issue: 3 Pages: 312-313 Published: SEP 2013
171. A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum
Takagi, Masaki; Sasaki, Goro; Mitsui, Toshikatsu; et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS Volume: 56 Issue: 9 Pages: 526-528 Published: SEP 2013
172. Potential mechanisms of cerebellar hypoplasia in prematurity
Tam, Emily W. Y.
NEURORADIOLOGY Volume: 55 Supplement: 2 Pages: 41-46 Published: SEP 2013
173. Neuropsychological Profile of an 18-Year-Old Woman with Cerebellar Hypoplasia: Using Neuropsychological Strengths and Weaknesses to Guide Treatment and Vocational Planning
Barker, L.; Otero, T.
ARCHIVES OF CLINICAL NEUROPSYCHOLOGY Volume: 28 Issue: 6 Pages: 537-537 Published: SEP 2013
174. A case of amblyopia with contralateral optic nerve hypoplasia
Frantz, Kelly A.; Pang, Yi
CLINICAL AND EXPERIMENTAL OPTOMETRY Volume: 96 Issue: 5 Pages: 500-503 Published: SEP 2013
175. Reduction genioplasty enhances quality of life in female patients with prognathism and maxillary hypoplasia undergoing bimaxillary osteotomy
Rustemeyer, J.; Lehmann, A.
INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY Volume: 42 Issue: 9 Pages: 1083-1092 Published: SEP 2013
176. LOSS OF CRIM1 RESULTS IN RENAL PAPILLARY HYPOPLASIA VIA PERTURBATIONS TO Wnt/beta-CATENIN SIGNALLING
Phua, Y. L.; Martel, N.; Gilbert, T.; et al.
NEPHROLOGY Volume: 18 Special Issue: SI Supplement: 1 Pages: 25-25 Meeting Abstract: 040 Published: SEP 2013
177. The genetic background for the predominantly left-sided gonadal hypoplasia in the Northern Finncattle and in the Swedish Mountain breed (Bos taurus)
Andersson, M.; Taponen, J.; Venhoranta, H.; et al.
Conference: 17th Annual Conference of the European-Society-of-Domestic-Animal-Reproduction (ESDAR) Location: Univ Bologna, Bologna, ITALY Date: SEP 12-14, 2013
Sponsor(s): European Soc Domest Anim Reprod (ESDAR); Fatro; Sexing Technologies; Virbac; Minitube; Michelson Prize&Grants; Biophos; Proiser; Chemometec; IMV Technologies; Alma Mater Studiorum Univ Bologna; Casa Editrice Ambrosiana; Assogene
REPRODUCTION IN DOMESTIC ANIMALS Volume: 48 Special Issue: SI Supplement: 1 Pages: 90-91 Published: SEP 2013
178. Occlusion of persistent levoatrial cardinal vein without left heart hypoplasia utilizing an Amplatzer device
Ciliberti, Paolo; Taylor, Andrew M.; Yates, Robert; et al.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING Volume: 14 Issue: 9 Pages: 857-857 Published: SEP 2013
179. Increased Enamel Hypoplasia and Very Low Birthweight Infants
Nelson, S.; Albert, J. M.; Geng, C.; et al.
JOURNAL OF DENTAL RESEARCH Volume: 92 Issue: 9 Pages: 788-794 Published: SEP 2013
180. N-methyl-N-nitrosourea-induced cerebellar hypoplasia in rats: Effect of arachidonic acid supplementation during the gestational, lactational and post-weaning periods
Yoshizawa, Katsuhiko; Emoto, Yuko; Kinoshita, Yuichi; et al.
EXPERIMENTAL AND THERAPEUTIC MEDICINE Volume: 6 Issue: 3 Pages: 627-634 Published: SEP 2013
181. ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm
Yahyavi, Mani; Abouzeid, Hana; Gawdat, Ghada; et al.
HUMAN MOLECULAR GENETICS Volume: 22 Issue: 16 Pages: 3250-3258 Published: AUG 15 2013
182. Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs
Perez, Valentin; Suarez-Vega, Aroa; Fuertes, Miguel; et al.
BMC VETERINARY RESEARCH Volume: 9 Article Number: 156 Published: AUG 9 2013
183. Adrenal Hypoplasia Congenita with Phenotypic Feature Suggestive of Neurofibromatosis Type 1 Among Three African-American Brothers
Balikcioglu, Pinar Gumus; Gomez, Ricardo; Vargas, Alfonso; et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A Volume: 161 Issue: 8 Pages: 2105-2107 Published: AUG 2013
184. Treatment of midfacial hypoplasia in syndromic and cleft lip and palate patients by means of a rigid external distractor (RED)
Sant'Anna, Eduardo Franzotti; Cury-Saramago, Adriana de Alcantara; Lau, Geórgia Wain Thi; et al.
Dental Press Journal of Orthodontics Volume: 18 Issue: 4 Pages: 134-143 Published: 2013-08
185. Torticollis secondary to sternocleidomastoid hypoplasia
Jimenez Sarmiento, A. S.; Conejero Casares, J. A.; Romero Romero, B.; et al.
ANALES DE PEDIATRIA Volume: 79 Issue: 2 Pages: 127-128 Published: AUG 2013
186. A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia
Di Gregorio, Eleonora; Bianchi, Federico T.; Schiavi, Alfonso; et al.
JOURNAL OF MEDICAL GENETICS Volume: 50 Issue: 8 Pages: 543-551 Published: AUG 2013
187. Entire DAX1 Gene Deletion in an Indian Boy with Adrenal Hypoplasia Congenita
Khadilkar, Vaman V.; Mangtani, Hari R.; Jahagirdar, Rahul R.; et al.
INDIAN JOURNAL OF PEDIATRICS Volume: 80 Issue: 8 Pages: 631-635 Published: AUG 2013
188. Segmental Spinal Cord Hypoplasia in a Holstein Friesian Calf
Binanti, D.; Fantinato, E.; De Zani, D.; et al.
ANATOMIA HISTOLOGIA EMBRYOLOGIA Volume: 42 Issue: 4 Pages: 316-320 Published: AUG 2013
189. Cri-du-chat (5p-) syndrome presenting with cerebellar hypoplasia and hypospadias: Prenatal diagnosis and aCGH characterization using uncultured amniocytes
Chen, Chih-Ping; Huang, Ming-Chao; Chen, Yi-Yung; et al.
GENE Volume: 524 Issue: 2 Pages: 407-411 Published: JUL 25 2013
190. Bilateral Hypoplasia of the Frontal Sinuses
Boffano, Paolo; Roccia, Fabio; Gallesio, Cesare; et al.
JOURNAL OF CRANIOFACIAL SURGERY Volume: 24 Issue: 4 Pages: 1502-1503 Published: JUL 2013
191. Evaluation of Mandibular Hypoplasia in Patients With Hemifacial Microsomia: A Comparison Between Panoramic Radiography and Three-Dimensional Computed Tomography
Takahashi-Ichikawa, Naoko; Susami, Takafumi; Nagahama, Kouhei; et al.
Conference: 20th Annual Meeting of the Japanese-Society-for-Jaw-Deformities Location: Sapporo, JAPAN Date: JUN, 2010
Sponsor(s): Japanese Soc Jaw Deformities
CLEFT PALATE-CRANIOFACIAL JOURNAL Volume: 50 Issue: 4 Pages: 381-387 Published: JUL 2013
192. Hypoplasia of the Aorta in a Patient Diagnosed with LMNA Gene Mutation
Coutance, Guillaume; Labombarda, Fabien; Cauderlier, Emmanuelle; et al.
CONGENITAL HEART DISEASE Volume: 8 Issue: 4 Pages: E127-E129 Published: JUL 2013
193. Foetal presentation of cartilage hair hypoplasia with extensive granulomatous inflammation
Crahes, Marie; Saugier-Veber, Pascale; Patrier, Sophie; et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS Volume: 56 Issue: 7 Pages: 365-370 Published: JUL 2013
194. NOVEL MUTATIONS IN DAX1 OF X-LINKED ADRENAL HYPOPLASIA CONGENITA OVER SEVERAL GENERATIONS IN ONE FAMILY
Xu Xiao-qin; Feng Yue-ying; Yuan Wen-xia; et al.
ENDOCRINE PRACTICE Volume: 19 Issue: 4 Pages: E105-E111 Published: JUL-AUG 2013
195. Incidence and Associated Endocrine and Neurologic Abnormalities of Optic Nerve Hypoplasia
Mohney, Brian G.; Young, Ryan C.; Diehl, Nancy
JAMA OPHTHALMOLOGY Volume: 131 Issue: 7 Pages: 898-902 Published: JUL 2013
196. Mammary Hypoplasia: Not Every Breast Can Produce Sufficient Milk
Arbour, Megan W.; Kessler, Julia Lange
JOURNAL OF MIDWIFERY & WOMENS HEALTH Volume: 58 Issue: 4 Pages: 457-461 Published: JUL 2013
197. Hippocampal Hypoplasia in Smith-Lemli-Opitz Syndrome
Grynspan, David; Michaud, Jean; Nikkel, Sarah M.; et al.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY Volume: 16 Issue: 4 Pages: 318-320 Published: JUL-AUG 2013
198. Brain lipoma, corpus callosum hypoplasia and polymicrogyria in Familial Multiple Lipomatosis
Nunes, Jean Costa; Martins, Rafael Ferreira; Bastos, Alexandre; et al.
CLINICAL NEUROLOGY AND NEUROSURGERY Volume: 115 Issue: 7 Pages: 1157-1159 Published: JUL 2013
199. Vertebral artery hypoplasia in posterior circulation cerebral ischemia
Katsanos, Aristeidis H.; Kosmidou, Maria; Giannopoulos, Sotirios
CLINICAL NEUROLOGY AND NEUROSURGERY Volume: 115 Issue: 7 Pages: 1194-1195 Published: JUL 2013
200. Comparing the Chronological Distribution of Enamel Hypoplasia in Rogowo, Poland (2nd century ad) Using Two Methods of Defect Timing Estimation
Krenz-Niedbala, M.; Kozlowski, T.
INTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY Volume: 23 Issue: 4 Pages: 410-420 Published: JUL 2013
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