117 related articles for article (PubMed ID: 11754064)
1. Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation.
Akahoshi K; Fukai K; Kato A; Kimiya S; Kubota T; Spritz RA
Am J Med Genet; 2001 Dec; 104(4):299-302. PubMed ID: 11754064
[TBL] [Abstract][Full Text] [Related]
2. Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia.
Akahoshi K; Spritz RA; Fukai K; Mitsui N; Matsushima K; Ohashi H
Am J Med Genet A; 2004 Apr; 126A(3):290-2. PubMed ID: 15054844
[TBL] [Abstract][Full Text] [Related]
3. Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14.
Ungaro P; Christian SL; Fantes JA; Mutirangura A; Black S; Reynolds J; Malcolm S; Dobyns WB; Ledbetter DH
J Med Genet; 2001 Jan; 38(1):26-34. PubMed ID: 11134237
[TBL] [Abstract][Full Text] [Related]
4. Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.
Engelen JJ; Loots WJ; Albrechts JC; Schrander-Stumpel CT; Dirckx R; Smeets HJ; Hamers AJ; Geraedts JP
Genet Couns; 1999; 10(2):123-32. PubMed ID: 10422004
[TBL] [Abstract][Full Text] [Related]
5. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
Lee ST; Nicholls RD; Bundey S; Laxova R; Musarella M; Spritz RA
N Engl J Med; 1994 Feb; 330(8):529-34. PubMed ID: 8302318
[TBL] [Abstract][Full Text] [Related]
6. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).
Christian SL; Fantes JA; Mewborn SK; Huang B; Ledbetter DH
Hum Mol Genet; 1999 Jun; 8(6):1025-37. PubMed ID: 10332034
[TBL] [Abstract][Full Text] [Related]
7. Duplication of medial 15q confirmed by FISH.
Browne CE; Hatchwell E; Protopapas A; Ramos J
J Med Genet; 2000 Aug; 37(8):E10. PubMed ID: 10922390
[No Abstract] [Full Text] [Related]
8. 15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.
Koochek M; Harvard C; Hildebrand MJ; Van Allen M; Wingert H; Mickelson E; Holden JJ; Rajcan-Separovic E; Lewis ME
Clin Genet; 2006 Feb; 69(2):124-34. PubMed ID: 16433693
[TBL] [Abstract][Full Text] [Related]
9. Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders.
Keller K; Williams C; Wharton P; Paulk M; Bent-Williams A; Gray B; Ward A; Stalker H; Wallace M; Carter R; Zori R
Am J Med Genet A; 2003 Mar; 117A(2):105-11. PubMed ID: 12567405
[TBL] [Abstract][Full Text] [Related]
10. A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletion.
Morava E; Bartsch O; Czako M; Frensel A; Kárteszi J; Kosztolányi GY
Genet Couns; 2003; 14(3):337-42. PubMed ID: 14577679
[TBL] [Abstract][Full Text] [Related]
11. Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.
Kalsner L; Chamberlain SJ
Pediatr Clin North Am; 2015 Jun; 62(3):587-606. PubMed ID: 26022164
[TBL] [Abstract][Full Text] [Related]
12. Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.
Dello Russo P; Demori E; Sechi A; Passon N; Romagno D; Gnan C; Zoratti R; Damante G
Cytogenet Genome Res; 2016; 148(1):14-8. PubMed ID: 27160288
[TBL] [Abstract][Full Text] [Related]
13. High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage.
Wang NJ; Liu D; Parokonny AS; Schanen NC
Am J Hum Genet; 2004 Aug; 75(2):267-81. PubMed ID: 15197683
[TBL] [Abstract][Full Text] [Related]
14. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.
Rinchik EM; Bultman SJ; Horsthemke B; Lee ST; Strunk KM; Spritz RA; Avidano KM; Jong MT; Nicholls RD
Nature; 1993 Jan; 361(6407):72-6. PubMed ID: 8421497
[TBL] [Abstract][Full Text] [Related]
15. The evaluation of 15q proximal duplications by FISH.
Riordan D; Dawson AJ
Clin Genet; 1998 Dec; 54(6):517-21. PubMed ID: 9894799
[TBL] [Abstract][Full Text] [Related]
16. Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: a cytogenetic pitfall.
Carelle-Calmels N; Girard-Lemaire F; Guérin E; Bieth E; Rudolf G; Biancalana V; Pecheur H; Demil H; Schneider T; de Saint-Martin A; Caron O; Legrain M; Gaston V; Flori E
Eur J Med Genet; 2008; 51(6):547-57. PubMed ID: 18692163
[TBL] [Abstract][Full Text] [Related]
17. Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature.
Niida Y; Sato H; Ozaki M; Itoh M; Ikeno K; Takase E
Cytogenet Genome Res; 2016; 149(4):247-257. PubMed ID: 27771696
[TBL] [Abstract][Full Text] [Related]
18. Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.
Makoff AJ; Flomen RH
Genome Biol; 2007; 8(6):R114. PubMed ID: 17573966
[TBL] [Abstract][Full Text] [Related]
19. Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.
Hogart A; Leung KN; Wang NJ; Wu DJ; Driscoll J; Vallero RO; Schanen NC; LaSalle JM
J Med Genet; 2009 Feb; 46(2):86-93. PubMed ID: 18835857
[TBL] [Abstract][Full Text] [Related]
20. Two inv dup(15) chromosomes in a woman with repeated abortions.
Shim SH; Lee CH; Park YJ; Lee HJ; Park WI; Cho YH
Am J Med Genet; 2001 Dec; 104(4):303-6. PubMed ID: 11754065
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
