Literature DB >> 33275911

Using the Term Amyoplasia Loosely Can Lead to Confusion.

Judith G Hall1.   

Abstract

Mesh：

Year:  2020        PMID： 33275911      PMCID： PMC7820618          DOI： 10.1016/j.ajhg.2020.10.014

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  9 in total

1.  Don't use the term "amyoplasia" loosely.

Authors:  Judith G Hall
Journal:  Am J Med Genet       Date:  2002-08-15

2.  Gene ontology analysis of arthrogryposis (multiple congenital contractures).

Authors:  Jeff Kiefer; Judith G Hall
Journal:  Am J Med Genet C Semin Med Genet       Date:  2019-08-01       Impact factor: 3.908

Review 3.  Amyoplasia revisited.

Authors:  Judith G Hall; Kimberly A Aldinger; Kimi I Tanaka
Journal:  Am J Med Genet A       Date:  2014-01-23       Impact factor: 2.802

4.  Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses.

Authors:  Judith G Hall
Journal:  Am J Med Genet A       Date:  2014-01-23       Impact factor: 2.802

Review 5.  Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.

Authors:  Aaron P Adam; Cynthia J Curry; Judith G Hall; Kim M Keppler-Noreuil; Margaret P Adam; William B Dobyns
Journal:  Am J Med Genet A       Date:  2020-09-14       Impact factor: 2.802

6.  Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

Authors:  Jessica X Chong; Jared C Talbot; Emily M Teets; Samantha Previs; Brit L Martin; Kathryn M Shively; Colby T Marvin; Arthur S Aylsworth; Reem Saadeh-Haddad; Ulrich A Schatz; Francesca Inzana; Tawfeg Ben-Omran; Fatima Almusafri; Mariam Al-Mulla; Kati J Buckingham; Tamar Harel; Hagar Mor-Shaked; Periyasamy Radhakrishnan; Katta M Girisha; Shalini S Nayak; Anju Shukla; Klaus Dieterich; Julien Faure; John Rendu; Yline Capri; Xenia Latypova; Deborah A Nickerson; David M Warshaw; Paul M L Janssen; Sharon L Amacher; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2020-07-23       Impact factor: 11.025

7.  Part I. Amyoplasia: a common, sporadic condition with congenital contractures.

Authors:  J G Hall; S D Reed; E P Driscoll
Journal:  Am J Med Genet       Date:  1983-08

8.  Part II. Amyoplasia: twinning in amyoplasia--a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins.

Authors:  J G Hall; S D Reed; B C McGillivray; J Herrmann; M W Partington; A Schinzel; J Shapiro; D D Weaver
Journal:  Am J Med Genet       Date:  1983-08

9.  The spectrum of brain malformations and disruptions in twins.

Authors:  Kaylee B Park; Teresa Chapman; Kimberly A Aldinger; Ghayda M Mirzaa; Jordan Zeiger; Anita Beck; Ian A Glass; Robert F Hevner; Anna C Jansen; Desiree A Marshall; Renske Oegema; Elena Parrini; Russell P Saneto; Cynthia J Curry; Judith G Hall; Renzo Guerrini; Richard J Leventer; William B Dobyns
Journal:  Am J Med Genet A       Date:  2020-11-18       Impact factor: 2.802
  9 in total

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