Literature DB >> 11716161

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

S Bernasconi1, S Mariani, C Falcinelli, S Milioli, L Iughetti, A Forabosco.   

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Year:  2001        PMID： 11716161     DOI： 10.1007/BF03343919

Source DB:  PubMed          Journal:  J Endocrinol Invest        ISSN： 0391-4097            Impact factor:   4.256


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  30 in total

1.  Mesomelic dwarfism as the homozygous expression of dyschondrosteosis.

Authors:  C Espiritu; H Chen; P V Woolley
Journal:  Am J Dis Child       Date:  1975-03

2.  Otitis media and hearing loss in Turner syndrome.

Authors:  N Sculerati; J Ledesma-Medina; D N Finegold; S E Stool
Journal:  Arch Otolaryngol Head Neck Surg       Date:  1990-06

3.  SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome.

Authors:  V Cormier-Daire; V Belin; V Cusin; G Viot; D Girlich; A Toutain; A Moncla; M Vekemans; M Le Merrer; A Munnich
Journal:  Acta Paediatr Suppl       Date:  1999-12

4.  SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).

Authors:  V Belin; V Cusin; G Viot; D Girlich; A Toutain; A Moncla; M Vekemans; M Le Merrer; A Munnich; V Cormier-Daire
Journal:  Nat Genet       Date:  1998-05       Impact factor: 38.330

5.  Classic pages in obstetrics and gynecology by Henry H. Turner. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology, vol. 23, pp. 566-574, 1938.

Authors: 
Journal:  Am J Obstet Gynecol       Date:  1972-05-15       Impact factor: 8.661

Review 6.  Males with an XYY sex chromosome complement.

Authors:  W M Brown
Journal:  J Med Genet       Date:  1968-12       Impact factor: 6.318

7.  Turner syndrome: spontaneous growth in 150 cases and review of the literature.

Authors:  M B Ranke; H Pflüger; W Rosendahl; P Stubbe; H Enders; J R Bierich; F Majewski
Journal:  Eur J Pediatr       Date:  1983-12       Impact factor: 3.183

8.  Human haploinsufficiency--one for sorrow, two for joy.

Authors:  E Fisher; P Scambler
Journal:  Nat Genet       Date:  1994-05       Impact factor: 38.330

9.  Sex-influenced expression of Madelung's deformity in a family of dyschondrosteosis.

Authors:  J R Lichtenstein; M Sundaram; R Burdge
Journal:  J Med Genet       Date:  1980-02       Impact factor: 6.318

10.  Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Authors:  A Ballabio; B Bardoni; R Carrozzo; G Andria; D Bick; L Campbell; B Hamel; M A Ferguson-Smith; G Gimelli; M Fraccaro
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205
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  1 in total

1.  The Short-Stature Homeobox-Containing Gene (shox/SHOX) Is Required for the Regulation of Cell Proliferation and Bone Differentiation in Zebrafish Embryo and Human Mesenchymal Stem Cells.

Authors:  Tomoaki Yokokura; Hiroyasu Kamei; Takashi Shibano; Daisuke Yamanaka; Rie Sawada-Yamaguchi; Fumihiko Hakuno; Shin-Ichiro Takahashi; Toshiaki Shimizu
Journal:  Front Endocrinol (Lausanne)       Date:  2017-06-08       Impact factor: 5.555
  1 in total

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