175 related articles for article (PubMed ID: 17903679)
1. Albinism and developmental delay: the need to test for 15q11-q13 deletion.
Saadeh R; Lisi EC; Batista DA; McIntosh I; Hoover-Fong JE
Pediatr Neurol; 2007 Oct; 37(4):299-302. PubMed ID: 17903679
[TBL] [Abstract][Full Text] [Related]
2. [A case of Angelman syndrome combined with oculocutaneous albinism].
Li HY; Zheng H
Zhonghua Er Ke Za Zhi; 2005 Aug; 43(8):635-6. PubMed ID: 16191288
[No Abstract] [Full Text] [Related]
3. 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]
4. Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion.
Neubert G; von Au K; Drossel K; Tzschach A; Horn D; Nickel R; Kaindl AM
Gene; 2013 Jan; 512(2):453-5. PubMed ID: 23124039
[TBL] [Abstract][Full Text] [Related]
5. Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.
Horsthemke B; Maat-Kievit A; Sleegers E; van den Ouweland A; Buiting K; Lich C; Mollevanger P; Beverstock G; Gillessen-Kaesbach G; Schwanitz G
J Med Genet; 1996 Oct; 33(10):848-51. PubMed ID: 8933339
[TBL] [Abstract][Full Text] [Related]
6. Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.
Fridman C; Hosomi N; Varela MC; Souza AH; Fukai K; Koiffmann CP
Am J Med Genet A; 2003 Jun; 119A(2):180-3. PubMed ID: 12749060
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome.
Saitoh S; Oiso N; Wada T; Narazaki O; Fukai K
J Med Genet; 2000 May; 37(5):392-4. PubMed ID: 10905897
[No Abstract] [Full Text] [Related]
10. The mouse pink-eyed dilution gene: association with hypopigmentation in Prader-Willi and Angelman syndromes and with human OCA2.
Brilliant MH; King R; Francke U; Schuffenhauer S; Meitinger T; Gardner JM; Durham-Pierre D; Nakatsu Y
Pigment Cell Res; 1994 Dec; 7(6):398-402. PubMed ID: 7761348
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Phenotype of a child with Angelman syndrome born to a woman with Prader-Willi syndrome.
Ostergaard JR
Am J Med Genet A; 2015 Sep; 167A(9):2138-44. PubMed ID: 25832033
[TBL] [Abstract][Full Text] [Related]
13. Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.
Aypar U; Brodersen PR; Lundquist PA; Dawson DB; Thorland EC; Hoppman N
Am J Med Genet A; 2014 Oct; 164A(10):2514-20. PubMed ID: 24975781
[TBL] [Abstract][Full Text] [Related]
14. Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
Kwasnicka-Crawford DA; Roberts W; Scherer SW
J Autism Dev Disord; 2007 Apr; 37(4):694-702. PubMed ID: 17006779
[TBL] [Abstract][Full Text] [Related]
15. [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]
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. [The use of molecular cytogenetic and cytogenetic techniques for the diagnosis of Prader-Willi and Angelman syndrome].
Iourov IY; Vorsanova SG; Kurinnaaya OS; Kolotii AD; Demidova IA; Kravets VS; Yurov YB
Zh Nevrol Psikhiatr Im S S Korsakova; 2014; 114(1):49-53. PubMed ID: 24637817
[TBL] [Abstract][Full Text] [Related]
18. Characterization of a DNA sequence family in the Prader-Willi/Angelman syndrome chromosome region in 15q11-q13.
Dittrich B; Knoblauch H; Buiting K; Horsthemke B
Genomics; 1993 Apr; 16(1):269-71. PubMed ID: 8486372
[TBL] [Abstract][Full Text] [Related]
19. Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes.
Nicholls RD
Curr Opin Genet Dev; 1993 Jun; 3(3):445-56. PubMed ID: 8353420
[TBL] [Abstract][Full Text] [Related]
20. FISH analysis in Prader-Willi and Angelman syndrome patients.
Bettio D; Rizzi N; Giardino D; Grugni G; Briscioli V; Selicorni A; Carnevale F; Larizza L
Am J Med Genet; 1995 Mar; 56(2):224-8. PubMed ID: 7625450
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
