Literature DB >> 8187545

Report and abstracts of the Second International Workshop on Human Chromosome 15 Mapping. England, February 18-20, 1994.

S Malcolm1, T A Donlon.   

Abstract

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Year:  1994        PMID： 8187545     DOI： 10.1159/000133717

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN： 0301-0171


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  10 in total

1.  Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.

Authors:  H L Gilbert; J L Buxton; C T Chan; T McKay; S Cottrell; S Ramsden; R M Winter; M E Pembrey; S Malcolm
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  The elusive Angelman syndrome critical region.

Authors:  R J Trent; L J Sheffield; Z M Deng; W S Kim; N T Nassif; C Ryce; C G Woods; R C Michaelis; J Tarleton; A Smith
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

3.  Cowden's disease with a defined genetic alteration--chromosomal duplication at 15q11-q13.

Authors:  T Suzuki; M Ichinose; Y Matsubara; N Yahagi; K Kurokawa; H Fukamachi; K Miki
Journal:  J Gastroenterol       Date:  1997-10       Impact factor: 7.527

4.  Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns.

Authors:  M G Butler
Journal:  Am J Med Genet       Date:  1996-01-11

5.  Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15--a coincidence?

Authors:  M G Butler; L K Hedges; P K Rogan; J R Seip; S B Cassidy; J B Moeschler
Journal:  Am J Med Genet       Date:  1997-10-03

6.  Distinct 15q genotypes in Russell-Silver and ring 15 syndromes.

Authors:  P K Rogan; J R Seip; D J Driscoll; P R Papenhausen; V P Johnson; S Raskin; A L Woodward; M G Butler
Journal:  Am J Med Genet       Date:  1996-03-01

7.  Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.

Authors:  R A Spritz; T Bailin; R D Nicholls; S T Lee; S K Park; M J Mascari; M G Butler
Journal:  Am J Med Genet       Date:  1997-07-11

8.  Chromosomal localization of the human and mouse histidine decarboxylase genes by in situ hybridization. Exclusion of the HDC gene from the Prader-Willi syndrome region.

Authors:  P Malzac; M G Mattei; J Thibault; G Bruneau
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

9.  Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy.

Authors:  L M White; P K Rogan; R D Nicholls; B L Wu; B Korf; J H Knoll
Journal:  Am J Hum Genet       Date:  1996-08       Impact factor: 11.025

10.  A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.

Authors:  M G Butler; S L Christian; T Kubota; D H Ledbetter
Journal:  Am J Med Genet       Date:  1996-10-16
  10 in total

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