Literature DB >> 8558568

Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s).

T Ogata1, A Yoshizawa, K Muroya, N Matsuo, Y Fukushima, G Rappold, S Yokoya.   

Abstract

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Year:  1995        PMID： 8558568      PMCID： PMC1051714          DOI： 10.1136/jmg.32.10.831

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


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  12 in total

1.  Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region.

Authors:  T Ogata; P Goodfellow; C Petit; M Aya; N Matsuo
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

2.  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

Review 3.  Deletions of Xq and growth deficit: a review.

Authors:  C Geerkens; W Just; W Vogel
Journal:  Am J Med Genet       Date:  1994-04-01

4.  Developmental and other pathologic changes in syndromes caused by chromosome abnormalities.

Authors:  E F Gilbert; J M Opitz
Journal:  Perspect Pediatr Pathol       Date:  1982

5.  Differential Giemsa staining of sister chromatids and the study of chromatid exchanges without autoradiography.

Authors:  S Wolff; P Perry
Journal:  Chromosoma       Date:  1974       Impact factor: 4.316

6.  Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding.

Authors:  T Ikeuchi
Journal:  Cytogenet Cell Genet       Date:  1984

7.  Direct isolation of the functional human thymidine kinase gene with a cosmid shuttle vector.

Authors:  Y F Lau; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1984-01       Impact factor: 11.205

8.  Chromosomal localisation of a pseudoautosomal growth gene(s).

Authors:  T Ogata; C Petit; G Rappold; N Matsuo; T Matsumoto; P Goodfellow
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

9.  Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

Authors:  C J Curry; R E Magenis; M Brown; J T Lanman; J Tsai; P O'Lague; P Goodfellow; T Mohandas; E A Bergner; L J Shapiro
Journal:  N Engl J Med       Date:  1984-10-18       Impact factor: 91.245

10.  Physical mapping of the human pseudo-autosomal region; comparison with genetic linkage map.

Authors:  C Petit; J Levilliers; J Weissenbach
Journal:  EMBO J       Date:  1988-08       Impact factor: 11.598
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  2 in total

Review 1.  SHOX gene in Leri-Weill syndrome and in idiopathic short stature.

Authors:  S Bernasconi; S Mariani; C Falcinelli; S Milioli; L Iughetti; A Forabosco
Journal:  J Endocrinol Invest       Date:  2001-10       Impact factor: 4.256

2.  Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation.

Authors:  M Joseph; E S Cantú; G S Pai; S M Willi; P R Papenhausen; L Weiss
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318
  2 in total

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