Literature DB >> 1679180

Genomic imprinting in an Angelman and Prader-Willi translocation family.

M Hultén, S Armstrong, P Challinor, C Gould, G Hardy, P Leedham, T Lee, C McKeown.   

Abstract

Entities:  

Mesh：

Year:  1991        PMID： 1679180     DOI： 10.1016/0140-6736(91)90652-6

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  16 in total

1.  High purity factor VIII concentrates and HIV infection.

Authors:  C A Lee
Journal:  BMJ       Date:  1992-03-07

2.  Angelman's syndrome.

Authors:  J Clayton-Smith
Journal:  Arch Dis Child       Date:  1992-07       Impact factor: 3.791

3.  Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

Authors:  B Horsthemke; A Maat-Kievit; E Sleegers; A van den Ouweland; K Buiting; C Lich; P Mollevanger; G Beverstock; G Gillessen-Kaesbach; G Schwanitz
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

4.  Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.

Authors:  A U López-Gutiérrez; L Riba; M L Ordoñez-Sánchez; S Ramírez-Jiménez; M Cerrillo-Hinojosa; M T Tusié-Luna
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

5.  Molecular study of chromosome 15 in 22 patients with Angelman syndrome.

Authors:  J Beuten; K Mangelschots; I Buntinx; P Coucke; O F Brouwer; R C Hennekam; C Van Broeckhoven; P J Willems
Journal:  Hum Genet       Date:  1993-01       Impact factor: 4.132

6.  Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

Authors:  A Mutirangura; F Greenberg; M G Butler; S Malcolm; R D Nicholls; A Chakravarti; D H Ledbetter
Journal:  Hum Mol Genet       Date:  1993-02       Impact factor: 6.150

7.  DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).

Authors:  A M van den Ouweland; M N van der Est; E Wesby-van Swaay; T S Tijmensen; F J Los; J O Van Hemel; R C Hennekam; H J Meijers-Heijboer; M F Niermeijer; D J Halley
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

8.  Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).

Authors:  M Erdel; S Schuffenhauer; B Buchholz; U Barth-Witte; S Köchl; B Utermann; H C Duba; G Utermann
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

Review 9.  Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

Authors:  J Clayton-Smith; T Webb; X J Cheng; M E Pembrey; S Malcolm
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

10.  Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.

Authors:  S B Cassidy; L W Lai; R P Erickson; L Magnuson; E Thomas; R Gendron; J Herrmann
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025
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