228 related articles for article (PubMed ID: 15968682)
41. Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11.
Flotho C; Steinemann D; Mullighan CG; Neale G; Mayer K; Kratz CP; Schlegelberger B; Downing JR; Niemeyer CM
Oncogene; 2007 Aug; 26(39):5816-21. PubMed ID: 17353900
[TBL] [Abstract][Full Text] [Related]
42. Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.
Berend SA; Bejjani BA; McCaskill C; Shaffer LG
Am J Med Genet; 2002 Sep; 111(4):362-5. PubMed ID: 12210293
[TBL] [Abstract][Full Text] [Related]
43. Complex and segmental uniparental disomy updated.
Kotzot D
J Med Genet; 2008 Sep; 45(9):545-56. PubMed ID: 18524837
[TBL] [Abstract][Full Text] [Related]
44. Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays.
Wang L; Fidler C; Nadig N; Giagounidis A; Della Porta MG; Malcovati L; Killick S; Gattermann N; Aul C; Boultwood J; Wainscoat JS
Haematologica; 2008 Jul; 93(7):994-1000. PubMed ID: 18508791
[TBL] [Abstract][Full Text] [Related]
45. Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes.
Martínez F; León AM; Monfort S; Oltra S; Roselló M; Orellana C
Genet Test; 2006; 10(3):174-7. PubMed ID: 17020468
[TBL] [Abstract][Full Text] [Related]
46. Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.
Varela MC; Kok F; Otto PA; Koiffmann CP
Eur J Hum Genet; 2004 Dec; 12(12):987-92. PubMed ID: 15470370
[TBL] [Abstract][Full Text] [Related]
47. A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient.
Gutkowska A; Tylki-Szymańska A; Popowska E; Bielińska B; Jurkiewicz D; Krajewska-Walasek M
Eur J Med Genet; 2005; 48(2):207-9. PubMed ID: 16053914
[No Abstract] [Full Text] [Related]
48. Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
Eggermann T; Meyer E; Obermann C; Heil I; Schüler H; Ranke MB; Eggermann K; Wollmann HA
J Med Genet; 2005 May; 42(5):e26. PubMed ID: 15863658
[TBL] [Abstract][Full Text] [Related]
49. Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
Camprubí C; Coll MD; Villatoro S; Gabau E; Kamli A; Martínez MJ; Poyatos D; Guitart M
Eur J Med Genet; 2007; 50(1):11-20. PubMed ID: 17095305
[TBL] [Abstract][Full Text] [Related]
50. A twin sibling with Prader-Willi syndrome caused by uniparental disomy conceived after in vitro fertilization.
Atik T; Aykut A; Karaca E; Onay H; Ozkinay F; Cogulu O
Genet Couns; 2014; 25(4):433-7. PubMed ID: 25804024
[TBL] [Abstract][Full Text] [Related]
51. Uniparental disomy (UPD). Genomic imprinting and a case for new genetics (prenatal and clinical implications: the "Likon" concept).
Engel E
Ann Genet; 1997; 40(1):24-34. PubMed ID: 9150847
[TBL] [Abstract][Full Text] [Related]
52. Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient.
Dupont JM; Cuisset L; Cartigny M; Le Tessier D; Vasseur C; Rabineau D; Jeanpierre M
Am J Med Genet; 2002 Sep; 111(4):405-8. PubMed ID: 12210300
[TBL] [Abstract][Full Text] [Related]
53. Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation.
Kotzot D
Eur J Hum Genet; 2004 May; 12(5):343-6. PubMed ID: 14747835
[TBL] [Abstract][Full Text] [Related]
54. Human imprinting syndromes.
Lim DH; Maher ER
Epigenomics; 2009 Dec; 1(2):347-69. PubMed ID: 22122706
[TBL] [Abstract][Full Text] [Related]
55. A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology.
Talseth-Palmer BA; Bowden NA; Meldrum C; Nicholl J; Thompson E; Friend K; Liebelt J; Bratkovic D; Haan E; Yu S; Scott RJ
Cytogenet Genome Res; 2009; 124(1):94-101. PubMed ID: 19372674
[TBL] [Abstract][Full Text] [Related]
56. Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.
Saitoh S; Hosoki K; Takano K; Tonoki H
Clin Genet; 2007 Oct; 72(4):378-80. PubMed ID: 17850637
[No Abstract] [Full Text] [Related]
57. Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.
Kotzot D
Eur J Med Genet; 2008; 51(5):444-51. PubMed ID: 18655849
[TBL] [Abstract][Full Text] [Related]
58. Genetic imprinting: the paradigm of Prader-Willi and Angelman syndromes.
Gurrieri F; Accadia M
Endocr Dev; 2009; 14():20-8. PubMed ID: 19293572
[TBL] [Abstract][Full Text] [Related]
59. Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis.
Faas BH; van der Burgt I; Kooper AJ; Pfundt R; Hehir-Kwa JY; Smits AP; de Leeuw N
J Med Genet; 2010 Sep; 47(9):586-94. PubMed ID: 20577003
[TBL] [Abstract][Full Text] [Related]
60. Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.
Murthy SK; Nygren AO; El Shakankiry HM; Schouten JP; Al Khayat AI; Ridha A; Al Ali MT
Cytogenet Genome Res; 2007; 116(1-2):135-40. PubMed ID: 17268193
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]