Literature DB >> 2995673

Molecular genetics of the human X chromosome.

K E Davies.   

Abstract

The human X chromosome will soon be mapped at 10 cM intervals. This will permit the localisation of any X linked disorder provided that informative families are available for linkage analysis. The location of RFLPs currently in use for clinical diagnosis is summarised. The next decade should witness the elucidation of the molecular basis of some of the more common defects, such as the muscular dystrophies and X linked mental retardation.

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Year:  1985        PMID： 2995673      PMCID： PMC1049443          DOI： 10.1136/jmg.22.4.243

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  67 in total

1.  A cytological map of the human X chromosome--evidence for non-random recombination.

Authors:  D A Hartley; K E Davies; D Drayna; R L White; R Williamson
Journal:  Nucleic Acids Res       Date:  1984-07-11       Impact factor: 16.971

2.  Chromosome assignment of two cloned DNA probes hybridizing predominantly to human sex chromosomes.

Authors:  G A Rappold; T Cremer; C Cremer; W Back; J Bogenberger; H J Cooke
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

3.  Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.

Authors:  D Drayna; K Davies; D Hartley; J L Mandel; G Camerino; R Williamson; R White
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205

4.  Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe.

Authors:  I Oberle; G Camerino; R Heilig; L Grunebaum; J P Cazenave; C Crapanzano; P M Mannucci; J L Mandel
Journal:  N Engl J Med       Date:  1985-03-14       Impact factor: 91.245

5.  Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.

Authors:  A L Horwich; W A Fenton; K R Williams; F Kalousek; J P Kraus; R F Doolittle; W Konigsberg; L E Rosenberg
Journal:  Science       Date:  1984-06-08       Impact factor: 47.728

Review 6.  The fragile X syndrome: the patients and their chromosomes.

Authors:  M A De Arce; A Kearns
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

7.  Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.

Authors:  P Wieacker; K E Davies; H J Cooke; P L Pearson; R Williamson; S Bhattacharya; J Zimmer; H H Ropers
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

8.  Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28.

Authors:  S S Bhattacharya; A F Wright; J F Clayton; W H Price; C I Phillips; C M McKeown; M Jay; A C Bird; P L Pearson; E M Southern
Journal:  Nature       Date:  1984 May 17-23       Impact factor: 49.962

9.  Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.

Authors:  T P Yang; P I Patel; A C Chinault; J T Stout; L G Jackson; B M Hildebrand; C T Caskey
Journal:  Nature       Date:  1984 Aug 2-8       Impact factor: 49.962

10.  Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency).

Authors:  F Giannelli; D S Anson; K H Choo; D J Rees; P R Winship; N Ferrari; C R Rizza; G G Brownlee
Journal:  Lancet       Date:  1984-02-04       Impact factor: 79.321
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  9 in total

Review 1.  Gene mapping of mineral metabolic disorders.

Authors:  R V Thakker; K E Davies; J L O'Riordan
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 2.  Medical genetics.

Authors:  M Super
Journal:  Postgrad Med J       Date:  1991-07       Impact factor: 2.401

3.  A deletion panel of the long arm of the X chromosome: subregional localization of 22 DNA probes.

Authors:  H M Yang; T Lund; E Niebuhr; S Nørby; M Schwartz; L Shen
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

4.  A multipoint linkage analysis program for X-linked disorders, with the example of Duchenne muscular dystrophy and seven DNA probes.

Authors:  J Clayton
Journal:  Hum Genet       Date:  1986-05       Impact factor: 4.132

5.  Isolation of the gene for Duchenne muscular dystrophy.

Authors:  D N Singh
Journal:  Indian J Pediatr       Date:  1988 Mar-Apr       Impact factor: 1.967

6.  Prenatal diagnosis of Duchenne muscular dystrophy by DNA analysis.

Authors:  J M Old; K E Davies
Journal:  J Med Genet       Date:  1986-12       Impact factor: 6.318

Review 7.  The human Y chromosome.

Authors:  P Goodfellow; S Darling; J Wolfe
Journal:  J Med Genet       Date:  1985-10       Impact factor: 6.318

8.  Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients.

Authors:  T J Smith; L Wilson; S J Kenwrick; S M Forrest; A Speer; C Coutelle; K E Davies
Journal:  Nucleic Acids Res       Date:  1987-03-11       Impact factor: 16.971

9.  Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.

Authors:  H Dorkins; C Junien; J L Mandel; K Wrogemann; J P Moison; M Martinez; J M Old; S Bundey; M Schwartz; N Carpenter
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
  9 in total

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