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 *

105 related articles for article (PubMed ID: 10982040)

  • 41. Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother.
    Williams CA; Hendrickson JE; Cantú ES; Donlon TA
    Am J Med Genet; 1989 Mar; 32(3):333-8. PubMed ID: 2729353
    [TBL] [Abstract][Full Text] [Related]  

  • 42. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.
    Ginsburg C; Fokstuen S; Schinzel A
    Am J Med Genet; 2000 Dec; 95(5):454-60. PubMed ID: 11146466
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling.
    Moncla A; Malzac P; Livet MO; Voelckel MA; Mancini J; Delaroziere JC; Philip N; Mattei JF
    J Med Genet; 1999 Jul; 36(7):554-60. PubMed ID: 10424818
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
    Thomas NS; Durkie M; Potts G; Sandford R; Van Zyl B; Youings S; Dennis NR; Jacobs PA
    Eur J Hum Genet; 2006 Jul; 14(7):831-7. PubMed ID: 16617304
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Clinical Application of an Innovative Multiplex-Fluorescent-Labeled STRs Assay for Prader-Willi Syndrome and Angelman Syndrome.
    Zhang K; Liu S; Feng B; Yang Y; Zhang H; Dong R; Liu Y; Gai Z
    PLoS One; 2016; 11(2):e0147824. PubMed ID: 26841067
    [TBL] [Abstract][Full Text] [Related]  

  • 46. 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]  

  • 47. 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]  

  • 48. Transmission of Angelman syndrome by an affected mother.
    Lossie AC; Driscoll DJ
    Genet Med; 1999; 1(6):262-6. PubMed ID: 11258627
    [TBL] [Abstract][Full Text] [Related]  

  • 49. [A study on genetic diagnosis for Angelman syndrome].
    Liu LJ; Bai JL; Qu YJ; Jin YW; Wang H; Song F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Oct; 26(5):495-8. PubMed ID: 19806566
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Germline mosaicism of a novel UBE3A mutation in Angelman syndrome.
    Hosoki K; Takano K; Sudo A; Tanaka S; Saitoh S
    Am J Med Genet A; 2005 Oct; 138A(2):187-9. PubMed ID: 16100729
    [No Abstract]   [Full Text] [Related]  

  • 51. Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.
    Wang NJ; Parokonny AS; Thatcher KN; Driscoll J; Malone BM; Dorrani N; Sigman M; LaSalle JM; Schanen NC
    BMC Genet; 2008 Jan; 9():2. PubMed ID: 18177502
    [TBL] [Abstract][Full Text] [Related]  

  • 52. 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]  

  • 53. 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]  

  • 54. Intrachromosomal triplication of 15q11-q13.
    Schinzel AA; Brecevic L; Bernasconi F; Binkert F; Berthet F; Wuilloud A; Robinson WP
    J Med Genet; 1994 Oct; 31(10):798-803. PubMed ID: 7837257
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.
    Nazlican H; Zeschnigk M; Claussen U; Michel S; Boehringer S; Gillessen-Kaesbach G; Buiting K; Horsthemke B
    Hum Mol Genet; 2004 Nov; 13(21):2547-55. PubMed ID: 15385437
    [TBL] [Abstract][Full Text] [Related]  

  • 56. 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]  

  • 57. 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]  

  • 58. Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics.
    Toth-Fejel S; Magenis RE; Leff S; Brown MG; Comegys B; Lawce H; Berry T; Kesner D; Webb MJ; Olson S
    Am J Med Genet; 1995 Feb; 55(4):444-52. PubMed ID: 7762584
    [TBL] [Abstract][Full Text] [Related]  

  • 59. 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]  

  • 60. 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]  

    [Previous]   [Next]    [New Search]
    of 6.