180 related articles for article (PubMed ID: 18378203)
1. A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.
Guanciali-Franchi P; Calabrese G; Morizio E; Gatta V; Palka C; Stuppia L; Zuffardi O
Eur J Med Genet; 2008; 51(3):239-44. PubMed ID: 18378203
[TBL] [Abstract][Full Text] [Related]
2. FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation.
Cockwell AE; Dávalos IP; Rivera HR; Crolla JA
Am J Med Genet; 2001 Nov; 103(4):289-94. PubMed ID: 11746008
[TBL] [Abstract][Full Text] [Related]
3. Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report.
Kraoua L; Chaabouni M; Ewers E; Chelly I; Ouertani I; Ben Jemaa L; Maazoul F; Liehr T; Chaabouni H
Eur J Med Genet; 2011; 54(4):e446-50. PubMed ID: 21621018
[TBL] [Abstract][Full Text] [Related]
4. Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome.
Luke S; Verma RS; Giridharan R; Conte RA; Macera MJ
Am J Med Genet; 1994 Jul; 51(3):232-3. PubMed ID: 7521122
[TBL] [Abstract][Full Text] [Related]
5. [Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis].
Santa María L; Curotto B; Cortés F; Rojas C; Alliende MA
Rev Med Chil; 2001 Apr; 129(4):367-74. PubMed ID: 11413988
[TBL] [Abstract][Full Text] [Related]
6. Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.
Roberts SE; Dennis NR; Browne CE; Willatt L; Woods G; Cross I; Jacobs PA; Thomas S
Hum Genet; 2002 Mar; 110(3):227-34. PubMed ID: 11935334
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1--evidence for high variability in mosaicism in different tissues of sSMC carriers.
Fickelscher I; Starke H; Schulze E; Ernst G; Kosyakova N; Mkrtchyan H; MacDermont K; Sebire N; Liehr T
Prenat Diagn; 2007 Aug; 27(8):783-5. PubMed ID: 17546703
[TBL] [Abstract][Full Text] [Related]
10. Identification of mosaicism in Prader-Willi syndrome using fluorescent in situ hybridization.
Mowery-Rushton PA; Hanchett JM; Zipf WB; Rogan PK; Surti U
Am J Med Genet; 1996 Dec; 66(4):403-12. PubMed ID: 8989457
[TBL] [Abstract][Full Text] [Related]
11. Low level of mosaicism in atypical Prader Willi syndrome: detection using fluorescent in situ hybridization.
Chaddha V; Agarwal S; Phadke SR; Halder A
Indian Pediatr; 2003 Feb; 40(2):166-8. PubMed ID: 12626835
[TBL] [Abstract][Full Text] [Related]
12. Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.
Thomas NS; Browne CE; Oley C; Healey S; Crolla JA
Hum Genet; 1999 Nov; 105(5):384-7. PubMed ID: 10598802
[TBL] [Abstract][Full Text] [Related]
13. A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype.
Maggouta F; Roberts SE; Dennis NR; Veltman MW; Crolla JA
J Med Genet; 2003 Jul; 40(7):e84. PubMed ID: 12843333
[No Abstract] [Full Text] [Related]
14. Molecular cytogenetic characterization of two cases with de novo small mosaic supernumerary marker chromosomes derived from chromosome 16: towards a genotype/phenotype correlation.
Melo JB; Matoso E; Polityko A; Saraiva J; Backx L; Vermeesch JR; Kosyakova N; Ewers E; Liehr T; Carreira IM
Cytogenet Genome Res; 2009; 125(2):109-14. PubMed ID: 19729913
[TBL] [Abstract][Full Text] [Related]
15. A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14.
Zou YS; McGrann PS; Uphoff TS; Van Dyke DL
Am J Med Genet A; 2006 Aug; 140(15):1663-8. PubMed ID: 16830338
[TBL] [Abstract][Full Text] [Related]
16. A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader-Willi syndrome, Angelman syndrome and duplication of 15q11.2-q13 in a single family: Importance of differentiation from a paracentric inversion.
Collinson MN; Roberts SE; Crolla JA; Dennis NR
Am J Med Genet A; 2004 Apr; 126A(1):27-32. PubMed ID: 15039970
[TBL] [Abstract][Full Text] [Related]
17. Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy.
Qumsiyeh MB; Rafi SK; Sarri C; Grigoriadou M; Gyftodimou J; Pandelia E; Laskari H; Petersen MB
Am J Med Genet A; 2003 Feb; 116A(4):356-9. PubMed ID: 12522791
[TBL] [Abstract][Full Text] [Related]
18. Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.
Leana-Cox J; Jenkins L; Palmer CG; Plattner R; Sheppard L; Flejter WL; Zackowski J; Tsien F; Schwartz S
Am J Hum Genet; 1994 May; 54(5):748-56. PubMed ID: 8178816
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
Doornbos M; Sikkema-Raddatz B; Ruijvenkamp CA; Dijkhuizen T; Bijlsma EK; Gijsbers AC; Hilhorst-Hofstee Y; Hordijk R; Verbruggen KT; Kerstjens-Frederikse WS; van Essen T; Kok K; van Silfhout AT; Breuning M; van Ravenswaaij-Arts CM
Eur J Med Genet; 2009; 52(2-3):108-15. PubMed ID: 19328872
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
