Literature DB >> 7286978

The various phenotypes in Xp deletion. observations in eleven patients.

J P Fryns, P Petit, H Van den Berghe.   

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Year:  1981        PMID： 7286978     DOI： 10.1007/BF00281690

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


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  6 in total

Review 1.  KARYOTYPE-PHENOTYPE CORRELATIONS IN GONADAL DYSGENESIS AND THEIR BEARING ON THE PATHOGENESIS OF MALFORMATIONS.

Authors:  M A FERGUSON-SMITH
Journal:  J Med Genet       Date:  1965-06       Impact factor: 6.318

2.  Short arm deletion of an X chromosome, 46,XXp-.

Authors:  P Kaiser; B Zabel; S Hansen; E Daume
Journal:  Hum Genet       Date:  1976-04-15       Impact factor: 4.132

3.  Clinical consequence of Xp-.

Authors:  J J Hoo
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

4.  X chromosome constitution and the human female phenotype.

Authors:  E Therman; C Denniston; G E Sarto; M Ulber
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

5.  Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.

Authors:  M Fraccaro; P Maraschio; F Pasquali; S Scappaticci
Journal:  Hum Genet       Date:  1977-12-23       Impact factor: 4.132

6.  Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature.

Authors:  D Kalousek; A Schiffrin; A M Berguer; P Spier; H Guyda; E Colle
Journal:  J Pediatr       Date:  1979-06       Impact factor: 4.406
  6 in total
  10 in total

1.  Fine mapping of the distal short arm of the human X chromosome using X/Y translocations.

Authors:  R L Geller; L J Shapiro; T K Mohandas
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

Review 2.  Impact of rearrangements on function and position of chromosomes in the interphase nucleus and on human genetic disorders.

Authors:  M B Qumsiyeh
Journal:  Chromosome Res       Date:  1995-12       Impact factor: 5.239

3.  Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height.

Authors:  T Ogata; N Matsuo
Journal:  Hum Genet       Date:  1993-07       Impact factor: 4.132

4.  Elucidation of structural abnormalities of the X chromosome using fluorescence in situ hybridisation with a Y chromosome painting probe.

Authors:  R T Howell; R Millener; S Thorne; J O'Loughlin; J Brassey; A McDermott
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

5.  Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.

Authors:  Minjie Luo; Surabhi Mulchandani; Holly A Dubbs; Daniel Swarr; Louise Pyle; Elaine H Zackai; Nancy B Spinner; Laura K Conlin
Journal:  Am J Med Genet A       Date:  2015-07-21       Impact factor: 2.802

6.  Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

Authors:  A R Zinn; V S Tonk; Z Chen; W L Flejter; H A Gardner; R Guerra; H Kushner; S Schwartz; V P Sybert; D L Van Dyke; J L Ross
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025

7.  Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome.

Authors:  G Massa; M Vanderschueren-Lodeweyckx; J P Fryns
Journal:  Eur J Pediatr       Date:  1992-12       Impact factor: 3.183

8.  The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis.

Authors:  E Therman; B Susman
Journal:  Hum Genet       Date:  1990-07       Impact factor: 4.132

Review 9.  Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.

Authors:  T Ogata; N Matsuo
Journal:  Hum Genet       Date:  1995-06       Impact factor: 4.132

Review 10.  Duplication of the short arm of the X chromosome in mother and daughter.

Authors:  C M Tuck-Muller; J E Martinez; D A Batista; W G Kearns; W Wertelecki
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132
  10 in total

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