Literature DB >> 33275912

Response to Hall et al.

Jessica X Chong1, Jared C Talbot2, Emily M Teets3, Samantha Previs4, Brit L Martin5, Kathryn M Shively6, Colby T Marvin6, Arthur S Aylsworth7, Reem Saadeh-Haddad8, Ulrich A Schatz9, Francesca Inzana10, Tawfeg Ben-Omran11, Fatima Almusafri11, Mariam Al-Mulla11, Kati J Buckingham6, Tamar Harel12, Hagar Mor-Shaked12, Periyasamy Radhakrishnan13, Katta M Girisha13, Shalini S Nayak13, Anju Shukla13, Klaus Dieterich14, Julien Faure15, John Rendu15, Yline Capri16, Xenia Latypova15, Deborah A Nickerson17, David Warshaw4, Paul M Janssen5, Sharon L Amacher18, Michael J Bamshad19.   

Abstract

Mesh:

Year:  2020        PMID: 33275912      PMCID: PMC7820630          DOI: 10.1016/j.ajhg.2020.11.006

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


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  6 in total

Review 1.  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

2.  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

3.  Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies.

Authors:  Atif A Ahmed; Priya Skaria; Nicole P Safina; Isabelle Thiffault; Alex Kats; Eugenio Taboada; Sultan Habeebu; Carol Saunders
Journal:  Am J Med Genet A       Date:  2017-12-23       Impact factor: 2.802

4.  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

5.  Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Authors:  Gina Ravenscroft; Joshua S Clayton; Fathimath Faiz; Padma Sivadorai; Di Milnes; Rob Cincotta; Phillip Moon; Ben Kamien; Matthew Edwards; Martin Delatycki; Phillipa J Lamont; Sophelia Hs Chan; Alison Colley; Alan Ma; Felicity Collins; Lucinda Hennington; Teresa Zhao; George McGillivray; Sondhya Ghedia; Katherine Chao; Anne O'Donnell-Luria; Nigel G Laing; Mark R Davis
Journal:  J Med Genet       Date:  2020-10-15       Impact factor: 6.318

6.  Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy.

Authors:  Melissa T Carter; Hugh J McMillan; Andriy Tomin; Norbert Weiss
Journal:  Channels (Austin)       Date:  2019-12       Impact factor: 2.581

  6 in total

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