Literature DB >> 4105362

Congenital bowing of the long bones in two sisters.

A Stüve, H R Wiedemann.   

Abstract

Mesh：

Year:  1971        PMID： 4105362     DOI： 10.1016/s0140-6736(71)92666-3

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  17 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

Review 2.  Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.

Authors:  Roberta Besio; Chi-Wing Chow; Francesca Tonelli; Joan C Marini; Antonella Forlino
Journal:  FEBS J       Date:  2019-07-05       Impact factor: 5.542

3.  Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too.

Authors:  Anita Catavorello; Salvatore Giovanni Vitale; Diego Rossetti; Lisa Caldaci; Marco Marzio Panella
Journal:  J Prenat Med       Date:  2013-07

4.  Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories.

Authors:  U E Pazzaglia; G Beluffi
Journal:  Pediatr Radiol       Date:  1987

5.  Rhabdomyolysis in Stuve-Wiedemann syndrome.

Authors:  Pemantah Sandheeah Ramdeny; Colin Powell; Mallinath Chakraborty; Louise Hartley
Journal:  BMJ Case Rep       Date:  2018-02-08

Review 6.  Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.

Authors:  Débora Romeo Bertola; Rachel S Honjo; Wagner A R Baratela
Journal:  Mol Syndromol       Date:  2016-03-16

7.  One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome.

Authors:  Roshan Koul; Adila Al-Kindy; Renjith Mani; Dilip Sankhla; Amna Al-Futaisi
Journal:  Sultan Qaboos Univ Med J       Date:  2013-05-09

8.  Campomelic dysplasia: evidence of autosomal dominant inheritance.

Authors:  S A Lynch; M L Gaunt; A M Minford
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

9.  Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

Authors:  Nathalie Dagoneau; Deborah Scheffer; Céline Huber; Lihadh I Al-Gazali; Maja Di Rocco; Anne Godard; Jelena Martinovic; Annick Raas-Rothschild; Sabine Sigaudy; Sheila Unger; Sophie Nicole; Bertrand Fontaine; Jean-Luc Taupin; Jean-François Moreau; Andrea Superti-Furga; Martine Le Merrer; Jacky Bonaventure; Arnold Munnich; Laurence Legeai-Mallet; Valérie Cormier-Daire
Journal:  Am J Hum Genet       Date:  2004-01-21       Impact factor: 11.025

10.  A clinical and genetic study of campomelic dysplasia.

Authors:  S Mansour; C M Hall; M E Pembrey; I D Young
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318
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