Literature DB >> 8723080

Stüve-Wiedemann syndrome: update and historical footnote.

H R Wiedemann1, A Stüve.   

Abstract

Stüve-Wiedemann syndrome (SWS) is, at last, beginning to emerge from the shadows of campomelic syndrome as a nosologically and, presumably, causally-distinct entity, first delineated in 1971 on the basis of 2 affected sisters. The fact that these sisters had an affected double first cousin supports autosomal-recessive inheritance of SWS.

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Mesh:

Year:  1996        PMID: 8723080     DOI: 10.1002/(SICI)1096-8628(19960503)63:1<12::AID-AJMG5>3.0.CO;2-U

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  9 in total

1.  Craniocervical CT and MR imaging of Schwartz-Jampel syndrome.

Authors:  Sarah S Samimi; Walter S Lesley
Journal:  AJNR Am J Neuroradiol       Date:  2003-09       Impact factor: 3.825

2.  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

3.  Neuropathies of Stüve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene.

Authors:  Alexandra E Oxford; Cheryl L Jorcyk; Julia Thom Oxford
Journal:  J Neurol Neuromedicine       Date:  2016

4.  Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Authors:  Jana Herholz; Alessandra Meloni; Mara Marongiu; Francesca Chiappe; Manila Deiana; Carmen Roche Herrero; Giuseppe Zampino; Hanan Hamamy; Yusra Zalloum; Per Erik Waaler; Giangiorgio Crisponi; Laura Crisponi; Frank Rutsch
Journal:  Eur J Hum Genet       Date:  2011-02-16       Impact factor: 4.246

5.  In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome.

Authors:  Samuel Bellais; Carine Le Goff; Nathalie Dagoneau; Arnold Munnich; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2010-01       Impact factor: 4.246

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.  Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant.

Authors:  Ali Al Kaissi; Monika Rumpler; Robert Csepan; Franz Grill; Klaus Klaushofer
Journal:  Cases J       Date:  2008-08-21

8.  Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.

Authors:  Jose-Alberto Palma; Rachita Yadav; Dadi Gao; Lucy Norcliffe-Kaufmann; Susan Slaugenhaupt; Horacio Kaufmann
Journal:  Neurol Genet       Date:  2021-03-03

Review 9.  Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.

Authors:  Dawn Mikelonis; Cheryl L Jorcyk; Ken Tawara; Julia Thom Oxford
Journal:  Orphanet J Rare Dis       Date:  2014-03-12       Impact factor: 4.123

  9 in total

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