Literature DB >> 6539071

The lethal multiple pterygium syndromes.

J G Hall.   

Abstract

Mesh：

Year:  1984        PMID： 6539071     DOI： 10.1002/ajmg.1320170410

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


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  11 in total

1.  Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

Authors:  Neil V Morgan; Louise A Brueton; Phillip Cox; Marie T Greally; John Tolmie; Shanaz Pasha; Irene A Aligianis; Hans van Bokhoven; Tamas Marton; Lihadh Al-Gazali; Jenny E V Morton; Christine Oley; Colin A Johnson; Richard C Trembath; Han G Brunner; Eamonn R Maher
Journal:  Am J Hum Genet       Date:  2006-06-20       Impact factor: 11.025

2.  Lethal multiple pterygium syndrome.

Authors:  Farzeen Shuaib Mohtisham; Adel Sallam; Aiman Shawli
Journal:  BMJ Case Rep       Date:  2019-05-08

3.  Multiple pterygium syndrome type Escobar in two brothers. Follow-up data from childhood to adulthood.

Authors:  J P Fryns; P Volcke; H van den Berghe
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

4.  Genetic analysis of malformations causing perinatal mortality.

Authors:  I D Young; A B Rickett; M Clarke
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

5.  A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?

Authors:  I D Young; J M Zuccollo; N J Broderick
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

6.  Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.

Authors:  Ersan Kalay; Orhan Sezgin; Vasant Chellappa; Mehmet Mutlu; Heba Morsy; Hulya Kayserili; Elmar Kreiger; Aysegul Cansu; Bayram Toraman; Ebtesam Mohammed Abdalla; Yakup Aslan; Shiv Pillai; Nurten A Akarsu
Journal:  Am J Hum Genet       Date:  2011-12-22       Impact factor: 11.025

7.  Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

Authors:  Anne Michalk; Sigmar Stricker; Jutta Becker; Rosemarie Rupps; Tapio Pantzar; Jan Miertus; Giovanni Botta; Valeria G Naretto; Catrin Janetzki; Nausheen Yaqoob; Claus-Eric Ott; Dominik Seelow; Dagmar Wieczorek; Britta Fiebig; Brunhilde Wirth; Markus Hoopmann; Marisa Walther; Friederike Körber; Markus Blankenburg; Stefan Mundlos; Raoul Heller; Katrin Hoffmann
Journal:  Am J Hum Genet       Date:  2008-02       Impact factor: 11.025

8.  Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

Authors:  Ariana Kariminejad; Navid Almadani; Atefeh Khoshaeen; Bjorn Olsson; Ali-Reza Moslemi; Homa Tajsharghi
Journal:  BMC Genet       Date:  2016-05-31       Impact factor: 2.797

9.  Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

Authors:  Julie Vogt; Benjamin J Harrison; Hayley Spearman; Judy Cossins; Sascha Vermeer; Lambert Naudin ten Cate; Neil V Morgan; David Beeson; Eamonn R Maher
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

10.  Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.

Authors:  Ariana Kariminejad; Siavash Ghaderi-Sohi; Hamid Hossein-Nejad Nedai; Vahid Varasteh; Ali-Reza Moslemi; Homa Tajsharghi
Journal:  BMC Musculoskelet Disord       Date:  2016-03-01       Impact factor: 2.362
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