These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

148 related articles for article (PubMed ID: 12749060)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.
    Bürger J; Kunze J; Sperling K; Reis A
    Am J Med Genet; 1996 Dec; 66(2):221-6. PubMed ID: 8958335
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation.
    Saitoh S; Buiting K; Cassidy SB; Conroy JM; Driscoll DJ; Gabriel JM; Gillessen-Kaesbach G; Glenn CC; Greenswag LR; Horsthemke B; Kondo I; Kuwajima K; Niikawa N; Rogan PK; Schwartz S; Seip J; Williams CA; Nicholls RD
    Am J Med Genet; 1997 Jan; 68(2):195-206. PubMed ID: 9028458
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review].
    Zhou QJ; Gong P; Jiao XR; Yang ZX
    Beijing Da Xue Xue Bao Yi Xue Ban; 2023 Feb; 55(1):181-185. PubMed ID: 36718709
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.
    Bürger J; Horn D; Tönnies H; Neitzel H; Reis A
    Am J Med Genet; 2002 Aug; 111(3):233-7. PubMed ID: 12210318
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mechanisms of imprinting of the Prader-Willi/Angelman region.
    Horsthemke B; Wagstaff J
    Am J Med Genet A; 2008 Aug; 146A(16):2041-52. PubMed ID: 18627066
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons.
    Chai JH; Locke DP; Greally JM; Knoll JH; Ohta T; Dunai J; Yavor A; Eichler EE; Nicholls RD
    Am J Hum Genet; 2003 Oct; 73(4):898-925. PubMed ID: 14508708
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.
    Glenn CC; Driscoll DJ; Yang TP; Nicholls RD
    Mol Hum Reprod; 1997 Apr; 3(4):321-32. PubMed ID: 9237260
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.
    Ververi A; Islam L; Bewes B; Busby L; Sullivan C; Canham N
    Cytogenet Genome Res; 2017; 152(3):132-136. PubMed ID: 28898887
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.
    Spritz RA; Bailin T; Nicholls RD; Lee ST; Park SK; Mascari MJ; Butler MG
    Am J Med Genet; 1997 Jul; 71(1):57-62. PubMed ID: 9215770
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method.
    Zeschnigk M; Schmitz B; Dittrich B; Buiting K; Horsthemke B; Doerfler W
    Hum Mol Genet; 1997 Mar; 6(3):387-95. PubMed ID: 9147641
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Distinct phenotypes distinguish the molecular classes of Angelman syndrome.
    Lossie AC; Whitney MM; Amidon D; Dong HJ; Chen P; Theriaque D; Hutson A; Nicholls RD; Zori RT; Williams CA; Driscoll DJ
    J Med Genet; 2001 Dec; 38(12):834-45. PubMed ID: 11748306
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.