Literature DB >> 1528014

Molecular analysis of the fragile X syndrome.

M C Hirst1, S M Knight, Y Nakahori, A Roche, K E Davies.   

Abstract

The molecular analysis of human X-linked disease has progressed rapidly over the last few years owing to advances in power of mapping techniques. Physical DNA maps covering more than 5 million base pairs have been constructed for several chromosomal regions. Many of these regions have now also been cloned into overlapping cosmid and YAC contigs facilitating the search for disease genes. The recent identification of the mutation in the fragile X syndrome is such an example of the power of YAC technology in the characterization of human genetic disease mutations.

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Year:  1992        PMID: 1528014     DOI: 10.1007/bf01799612

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  31 in total

1.  A YAC contig across the fragile X site defines the region of fragility.

Authors:  M C Hirst; K Rack; Y Nakahori; A Roche; M V Bell; G Flynn; Z Christadoulou; R N MacKinnon; M Francis; A J Littler
Journal:  Nucleic Acids Res       Date:  1991-06-25       Impact factor: 16.971

2.  Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).

Authors:  F Rousseau; A Vincent; S Rivella; D Heitz; C Triboli; E Maestrini; S T Warren; G K Suthers; P Goodfellow; J L Mandel
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

3.  Microdissection of the fragile X region.

Authors:  R N MacKinnon; M C Hirst; M V Bell; J E Watson; U Claussen; H J Ludecke; G Senger; B Horsthemke; K E Davies
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

4.  Microdissection of banded human chromosomes.

Authors:  G Senger; H J Lüdecke; B Horsthemke; U Claussen
Journal:  Hum Genet       Date:  1990-05       Impact factor: 4.132

5.  Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.

Authors:  G R Sutherland
Journal:  Science       Date:  1977-07-15       Impact factor: 47.728

6.  Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis.

Authors:  R L Nussbaum; S D Airhart; D H Ledbetter
Journal:  Am J Med Genet       Date:  1986 Jan-Feb

7.  Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

Authors:  G K Suthers; J C Mulley; M A Voelckel; N Dahl; M L Väisänen; P Steinbach; I A Glass; C E Schwartz; B A van Oost; S N Thibodeau
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

8.  The marker (X) syndrome: a cytogenetic and genetic analysis.

Authors:  S L Sherman; N E Morton; P A Jacobs; G Turner
Journal:  Ann Hum Genet       Date:  1984-01       Impact factor: 1.670

9.  Genotype prediction in the fragile X syndrome.

Authors:  M C Hirst; Y Nakahori; S J Knight; C Schwartz; S N Thibodeau; A Roche; T J Flint; J M Connor; J P Fryns; K E Davies
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

10.  Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome.

Authors:  M V Bell; M C Hirst; Y Nakahori; R N MacKinnon; A Roche; T J Flint; P A Jacobs; N Tommerup; L Tranebjaerg; U Froster-Iskenius
Journal:  Cell       Date:  1991-02-22       Impact factor: 41.582

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