Literature DB >> 8487278

A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.

N Tommerup1, Z Tümer, T Tønnesen, N Horn.   

Abstract

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Year:  1993        PMID： 8487278      PMCID： PMC1016341          DOI： 10.1136/jmg.30.4.314

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


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  16 in total

Review 1.  The critical region on the human Xq.

Authors:  E Therman; R Laxova; B Susman
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  Positional cloning: let's not call it reverse anymore.

Authors:  F S Collins
Journal:  Nat Genet       Date:  1992-04       Impact factor: 38.330

Review 3.  Contiguous gene syndromes: a component of recognizable syndromes.

Authors:  R D Schmickel
Journal:  J Pediatr       Date:  1986-08       Impact factor: 4.406

Review 4.  Constitutional karyotypes in retinoblastoma.

Authors:  C Turleau; J De Grouchy
Journal:  Ophthalmic Paediatr Genet       Date:  1987-03

5.  High resolution chromosomes from first trimester trophoblast cultures.

Authors:  F Søndergaard; M Kristensen; N Tommerup
Journal:  Prenat Diagn       Date:  1985 Jul-Aug       Impact factor: 3.050

6.  Menkes syndrome in a girl with X-autosome translocation.

Authors:  S Kapur; J V Higgins; K Delp; B Rogers
Journal:  Am J Med Genet       Date:  1987-02

7.  [Specific fluorescence of R and G bands in human chromosomes].

Authors:  J Couturier; B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1973-01-15

8.  The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27 beta methylation analysis.

Authors:  D O Robinson; Y Boyd; D Cockburn; M N Collinson; I Craig; P A Jacobs
Journal:  Genet Res       Date:  1990 Oct-Dec       Impact factor: 1.588

9.  Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

Authors:  F P Cremers; T J van de Pol; B Wieringa; M H Hofker; P L Pearson; R A Pfeiffer; M Mikkelsen; A Tabor; H H Ropers
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

10.  X-autosome translocations: cytogenetic characteristics and their consequences.

Authors:  M G Mattei; J F Mattei; S Ayme; F Giraud
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132
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  3 in total

Review 1.  Menkes disease: recent advances and new aspects.

Authors:  Z Tümer; N Horn
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

Review 2.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 3.  Menkes disease: underlying genetic defect and new diagnostic possibilities.

Authors:  Z Tümer; N Horn
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982
  3 in total

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