Similar articles for PMID: 31369690

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1

Gene ontology analysis of arthrogryposis (multiple congenital contractures).

Kiefer J, Hall JG. Kiefer J, et al. Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):310-326. doi: 10.1002/ajmg.c.31733. Epub 2019 Aug 1. Am J Med Genet C Semin Med Genet. 2019. PMID: 31369690

2

Arthrogryposis as a Syndrome: Gene Ontology Analysis.

Hall JG, Kiefer J. Hall JG, et al. Mol Syndromol. 2016 Jul;7(3):101-9. doi: 10.1159/000446617. Epub 2016 Jun 7. Mol Syndromol. 2016. PMID: 27587986 Free PMC article. Review.

3

Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.

Hunter JM, Kiefer J, Balak CD, Jooma S, Ahearn ME, Hall JG, Baumbach-Reardon L. Hunter JM, et al. Am J Med Genet A. 2015 May;167A(5):931-73. doi: 10.1002/ajmg.a.36934. Epub 2015 Mar 19. Am J Med Genet A. 2015. PMID: 25790323 Review.

4

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D. Brownlow S, et al. J Clin Invest. 2001 Jul;108(1):125-30. doi: 10.1172/JCI12935. J Clin Invest. 2001. PMID: 11435464 Free PMC article.

5

Arthrogryposis multiplex congenita in utero: radiologic and pathologic findings.

Skaria P, Dahl A, Ahmed A. Skaria P, et al. J Matern Fetal Neonatal Med. 2019 Feb;32(3):502-511. doi: 10.1080/14767058.2017.1381683. Epub 2017 Sep 27. J Matern Fetal Neonatal Med. 2019. PMID: 28954562 Review.

6

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Lakhani S, Doan R, Almureikhi M, Partlow JN, Al Saffar M, Elsaid MF, Alaaraj N, James Barkovich A, Walsh CA, Ben-Omran T. Lakhani S, et al. Eur J Med Genet. 2017 May;60(5):245-249. doi: 10.1016/j.ejmg.2017.02.006. Epub 2017 Feb 27. Eur J Med Genet. 2017. PMID: 28254648 Free PMC article.

7

Disease coding systems for arthrogryposis multiplex congenita.

Bedard T, Lowry RB. Bedard T, et al. Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):304-309. doi: 10.1002/ajmg.c.31718. Epub 2019 Jun 24. Am J Med Genet C Semin Med Genet. 2019. PMID: 31232506

8

Arthrogryposis multiplex congenita occurring with maternal multiple sclerosis.

Livingstone IR, Sack GH Jr. Livingstone IR, et al. Arch Neurol. 1984 Nov;41(11):1216-7. doi: 10.1001/archneur.1984.04050220118031. Arch Neurol. 1984. PMID: 6487109

9

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J. Laquérriere A, et al. Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6. Hum Mol Genet. 2014. PMID: 24319099

10

Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects.

Hall JG. Hall JG. J Pediatr Orthop B. 1997 Jul;6(3):159-66. J Pediatr Orthop B. 1997. PMID: 9260643 Review.

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