Literature DB >> 7959704

An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13.

B Dittrich1, K Buiting, S Gross, B Horsthemke.   

Abstract

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Year:  1994        PMID： 7959704     DOI： 10.1007/BF00211036

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  12 in total

1.  An NciI RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13.

Authors:  B Dittrich; S Gross; K Buiting; B Horsthemke
Journal:  Hum Mol Genet       Date:  1993-09       Impact factor: 6.150

2.  Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

Authors:  A Reis; B Dittrich; V Greger; K Buiting; M Lalande; G Gillessen-Kaesbach; M Anvret; B Horsthemke
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

Review 3.  Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes.

Authors:  R D Nicholls
Journal:  Curr Opin Genet Dev       Date:  1993-06       Impact factor: 5.578

4.  Linkage analysis in familial Angelman syndrome.

Authors:  J Wagstaff; Y Y Shugart; M Lalande
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

5.  Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.

Authors:  B Dittrich; W P Robinson; H Knoblauch; K Buiting; K Schmidt; G Gillessen-Kaesbach; B Horsthemke
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

6.  Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome.

Authors:  M L Reed; S E Leff
Journal:  Nat Genet       Date:  1994-02       Impact factor: 38.330

7.  Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.

Authors:  A Kuwano; A Mutirangura; B Dittrich; K Buiting; B Horsthemke; S Saitoh; N Niikawa; S A Ledbetter; F Greenberg; A C Chinault
Journal:  Hum Mol Genet       Date:  1992-09       Impact factor: 6.150

8.  Functional imprinting and epigenetic modification of the human SNRPN gene.

Authors:  C C Glenn; K A Porter; M T Jong; R D Nicholls; D J Driscoll
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

9.  Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.

Authors:  K Buiting; B Dittrich; S Gross; V Greger; M Lalande; W Robinson; A Mutirangura; D Ledbetter; B Horsthemke
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

10.  Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

Authors:  M Nakao; J S Sutcliffe; B Durtschi; A Mutirangura; D H Ledbetter; A L Beaudet
Journal:  Hum Mol Genet       Date:  1994-02       Impact factor: 6.150
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  1 in total

1.  A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?

Authors:  K Buiting; B Dittrich; B Dworniczak; I Lerer; D Abeliovich; S Cottrell; I K Temple; J F Harvey; C Lich; S Gross; B Horsthemke
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025
  1 in total

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