Literature DB >> 19571066

Arthrogryposis: a review and update.

Michael Bamshad1, Ann E Van Heest, David Pleasure.   

Abstract

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Year:  2009        PMID： 19571066      PMCID： PMC2698792          DOI： 10.2106/JBJS.I.00281

Source DB:  PubMed          Journal:  J Bone Joint Surg Am        ISSN： 0021-9355            Impact factor:   5.284


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  68 in total

Review 1.  Teratogen update: maternal myasthenia gravis as a cause of congenital arthrogryposis.

Authors:  A Polizzi; S M Huson; A Vincent
Journal:  Teratology       Date:  2000-11

2.  Cranio-carpo-tarsal dystrophy.

Authors:  E A Freeman; J H Sheldon
Journal:  Arch Dis Child       Date:  1938-09       Impact factor: 3.791

3.  Transfer of pectoralis major in arthrogryposis to restore elbow flexion: deteriorating results in the long term.

Authors:  O Lahoti; M J Bell
Journal:  J Bone Joint Surg Br       Date:  2005-06

Review 4.  Genetic testing and risk assessment for spinal muscular atrophy (SMA).

Authors:  Shuji Ogino; Robert B Wilson
Journal:  Hum Genet       Date:  2002-10-03       Impact factor: 4.132

Review 5.  Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.

Authors:  Houman Ashrafian; Charles Redwood; Edward Blair; Hugh Watkins
Journal:  Trends Genet       Date:  2003-05       Impact factor: 11.639

6.  Management of upper limb problems in arthrogryposis.

Authors:  P F Williams
Journal:  Clin Orthop Relat Res       Date:  1985-04       Impact factor: 4.176

7.  Surgical treatment of arthrogryposis of the elbow.

Authors:  A Van Heest; P M Waters; B P Simmons
Journal:  J Hand Surg Am       Date:  1998-11       Impact factor: 2.230

8.  Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

Authors:  Julia Rankin; Michaela Auer-Grumbach; Warwick Bagg; Kevin Colclough; Thuy Duong Nguyen; Jane Fenton-May; Andrew Hattersley; Judith Hudson; Philip Jardine; Dragana Josifova; Cheryl Longman; Robert McWilliam; Katharine Owen; Mark Walker; Manfred Wehnert; Sian Ellard
Journal:  Am J Med Genet A       Date:  2008-06-15       Impact factor: 2.802

9.  Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.

Authors:  Juliane Ramser; Mary Ellen Ahearn; Claus Lenski; Kemal O Yariz; Heide Hellebrand; Michael von Rhein; Robin D Clark; Rita K Schmutzler; Peter Lichtner; Eric P Hoffman; Alfons Meindl; Lisa Baumbach-Reardon
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

10.  Surgical management of arthrogryposis in the upper extremity.

Authors:  J B Bennett; P E Hansen; W M Granberry; T E Cain
Journal:  J Pediatr Orthop       Date:  1985 May-Jun       Impact factor: 2.324
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  74 in total

1.  Skeletal muscle abnormalities and genetic factors related to vertical talus.

Authors:  Laura J Merrill; Christina A Gurnett; Anne M Connolly; Alan Pestronk; Matthew B Dobbs
Journal:  Clin Orthop Relat Res       Date:  2010-07-20       Impact factor: 4.176

2.  Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.

Authors:  Markus Storbeck; Beate Horsberg Eriksen; Andreas Unger; Irmgard Hölker; Ingvild Aukrust; Lilian A Martínez-Carrera; Wolfgang A Linke; Andreas Ferbert; Raoul Heller; Matthias Vorgerd; Gunnar Houge; Brunhilde Wirth
Journal:  Eur J Hum Genet       Date:  2017-06-21       Impact factor: 4.246

Review 3.  Management of hip contractures and dislocations in arthrogryposis.

Authors:  Stefano Stilli; Diego Antonioli; Manuele Lampasi; Onofrio Donzelli
Journal:  Musculoskelet Surg       Date:  2012-01-26

4.  Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.

Authors:  Vandana Shashi; Janelle Geist; Youngha Lee; Yongjin Yoo; Unbeom Shin; Kelly Schoch; Jennifer Sullivan; Nicholas Stong; Edward Smith; Joan Jasien; Peter Kranz; Yoonsung Lee; Yong Beom Shin; Nathan T Wright; Murim Choi; Aikaterini Kontrogianni-Konstantopoulos
Journal:  Hum Mutat       Date:  2019-05-05       Impact factor: 4.878

5.  Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

Authors:  Christina A Gurnett; David M Desruisseau; Kevin McCall; Ryan Choi; Zachary I Meyer; Michael Talerico; Sara E Miller; Jeong-Sun Ju; Alan Pestronk; Anne M Connolly; Todd E Druley; Conrad C Weihl; Mathew B Dobbs
Journal:  Hum Mol Genet       Date:  2010-01-02       Impact factor: 6.150

6.  Gpr126 is essential for peripheral nerve development and myelination in mammals.

Authors:  Kelly R Monk; Kazuo Oshima; Simone Jörs; Stefan Heller; William S Talbot
Journal:  Development       Date:  2011-05-25       Impact factor: 6.868

Review 7.  Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.

Authors:  Lulu Ma; Xuerong Yu
Journal:  Front Med       Date:  2017-03-02       Impact factor: 4.592

8.  Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.

Authors:  S Shaaban; F Duzcan; C Yildirim; W-M Chan; C Andrews; N A Akarsu; E C Engle
Journal:  Clin Genet       Date:  2013-07-19       Impact factor: 4.438

9.  Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Authors:  Ellen Knierim; Hiromi Hirata; Nicole I Wolf; Susanne Morales-Gonzalez; Gudrun Schottmann; Yu Tanaka; Sabine Rudnik-Schöneborn; Mickael Orgeur; Klaus Zerres; Stefanie Vogt; Anne van Riesen; Esther Gill; Franziska Seifert; Angelika Zwirner; Janbernd Kirschner; Hans Hilmar Goebel; Christoph Hübner; Sigmar Stricker; David Meierhofer; Werner Stenzel; Markus Schuelke
Journal:  Am J Hum Genet       Date:  2016-02-25       Impact factor: 11.025

Review 10.  Carpal Coalitions and Metacarpal Synostoses: A Review.

Authors:  Michael B Gottschalk; Maxim Danilevich; Hilton P Gottschalk
Journal:  Hand (N Y)       Date:  2016-09-01
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