Uniparental disomy Ppt and free 50 published articles

Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or part of a chromosome, from one parent and no copies from the other parent.

Uniparental Disomy, Imprinting and Prader-Willi Syndrome
Bill Fergus, Jenn Butt
https://sharepoint.cisat.jmu.edu/isat/klevicca/Web/Bio430/Chromosome_Disorders/Bio430PWS.ppt

Non Mendelian Inheritance
Reem Saadeh, MD
http://www.hopkinsmedicine.org/sebin/o/x/NONMend.ppt

Chromosomal Disorders
http://www.med.umich.edu/lrc/coursepages/M1/humangenetics/Lectures6and7Cytogenics.ppt

Prader-Willi Syndrome
http://www.pwsausa.org/awareness/PWSPresentation.ppt

Genetics for the Internist - I
Charles J. Macri, MD
http://www.gwumc.edu/edu/obgyn/genetics/docs/gen1im.ppt

Modes of Inheritance
Jonathan Wolfe
http://www.ucl.ac.uk/~ucbhjow/medicine/RGD_lectures/lecture_34.ppt

Genetic Variability
http://nsm.uh.edu/~dgraur/molevol/fall2010/slides/27geneticvariability.ppt
Free 50 Published articles:

1. Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence.
2. An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12.
3. Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
4. Association between acquired uniparental disomy and homozygous mutations and HER2/ER/PR status in breast cancer.
5. Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.
6. Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait.
7. Cytogenetic contribution to uniparental disomy (UPD).
8. Gain-of-function c-CBL mutations associated with uniparental disomy of 11q in myeloid neoplasms.
9. Relapse of leukemia with loss of mismatched HLA resulting from uniparental disomy after haploidentical hematopoietic stem cell transplantation.
10. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
11. Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.
12. Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature.
13. Accurate detection of uniparental disomy and microdeletions by SNP array analysis in myelodysplastic syndromes with normal cytogenetics.
14. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms.
15. Molecular allelokaryotyping of T-cell prolymphocytic leukemia cells with high density single nucleotide polymorphism arrays identifies novel common genomic lesions and acquired uniparental disomy.
16. Regions of acquired uniparental disomy at diagnosis of follicular lymphoma are associated with both overall survival and risk of transformation.
17. Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.
18. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies.
19. Genome-wide loss of heterozygosity and uniparental disomy in BRCA1/2-associated ovarian carcinomas.
20. Myoclonus-dystonia due to maternal uniparental disomy.
21. Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14.
22. Segmental uniparental disomy is a commonly acquired genetic event in relapsed acute myeloid leukemia.
23. Prenatal testing for uniparental disomy: indications and clinical relevance.
24. SNP array karyotyping allows for the detection of uniparental disomy and cryptic chromosomal abnormalities in MDS/MPD-U and MPD.
25. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML.
26. Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.
27. Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.
28. Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome.
29. Frequent occurrence of uniparental disomy in colorectal cancer.
30. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements.
31. Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi.
32. Long-acting gonadotropin-releasing hormone analogue treatment for central precocious puberty in maternal uniparental disomy chromosome 14.
33. Association between acquired uniparental disomy and homozygous gene mutation in acute myeloid leukemias.
34. Genomewide single nucleotide polymorphism microarray mapping in basal cell carcinomas unveils uniparental disomy as a key somatic event.
35. Global analysis of uniparental disomy using high density genotyping arrays.
36. Genome-wide single nucleotide polymorphism analysis reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemias.
37. Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1.
38. Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation.
39. Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy.
40. Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes.
41. Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients.
42. Death in adults with Prader-Willi syndrome may be correlated with maternal uniparental disomy.
43. Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay.
44. Paternal uniparental disomy in monozygotic twins discordant for hemihypertrophy.
45. Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome.
46. Loss of heterozygosity associated with uniparental disomy in breast carcinoma.
47. Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD): coincidence or consequence?
48. Maternal uniparental disomy for chromosome 14 with diabetes mellitus.
49. Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.
50. Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11-->q11:)/46,XX karyotype.