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2. A gene for arthrogryposis multiplex congenita neuropathic type is linked to D5S394 on chromosome 5qter. Shohat M; Lotan R; Magal N; Shohat T; Fischel-Ghodsian N; Rotter JI; Jaber L Am J Hum Genet; 1997 Nov; 61(5):1139-43. PubMed ID: 9345093 [TBL] [Abstract][Full Text] [Related]
5. Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter. Tanamy MG; Magal N; Halpern GJ; Jaber L; Shohat M Am J Med Genet; 2001 Nov; 104(2):152-6. PubMed ID: 11746047 [TBL] [Abstract][Full Text] [Related]
6. A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability. Mishra S; Rai A; Srivastava P; Phadke SR Eur J Med Genet; 2020 Mar; 63(3):103756. PubMed ID: 31513940 [TBL] [Abstract][Full Text] [Related]
7. A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases. Stattin EL; Johansson J; Gudmundsson S; Ameur A; Lundberg S; Bondeson ML; Wilbe M Am J Med Genet A; 2018 Jun; 176(6):1405-1410. PubMed ID: 29663639 [TBL] [Abstract][Full Text] [Related]
8. ECEL1 mutation causes fetal arthrogryposis multiplex congenita. Dohrn N; Le VQ; Petersen A; Skovbo P; Pedersen IS; Ernst A; Krarup H; Petersen MB Am J Med Genet A; 2015 Apr; 167A(4):731-43. PubMed ID: 25708584 [TBL] [Abstract][Full Text] [Related]
9. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Hirata H; Nanda I; van Riesen A; McMichael G; Hu H; Hambrock M; Papon MA; Fischer U; Marouillat S; Ding C; Alirol S; Bienek M; Preisler-Adams S; Grimme A; Seelow D; Webster R; Haan E; MacLennan A; Stenzel W; Yap TY; Gardner A; Nguyen LS; Shaw M; Lebrun N; Haas SA; Kress W; Haaf T; Schellenberger E; Chelly J; Viot G; Shaffer LG; Rosenfeld JA; Kramer N; Falk R; El-Khechen D; Escobar LF; Hennekam R; Wieacker P; Hübner C; Ropers HH; Gecz J; Schuelke M; Laumonnier F; Kalscheuer VM Am J Hum Genet; 2013 May; 92(5):681-95. PubMed ID: 23623388 [TBL] [Abstract][Full Text] [Related]
10. Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. Ravenscroft G; Nolent F; Rajagopalan S; Meireles AM; Paavola KJ; Gaillard D; Alanio E; Buckland M; Arbuckle S; Krivanek M; Maluenda J; Pannell S; Gooding R; Ong RW; Allcock RJ; Carvalho ED; Carvalho MD; Kok F; Talbot WS; Melki J; Laing NG Am J Hum Genet; 2015 Jun; 96(6):955-61. PubMed ID: 26004201 [TBL] [Abstract][Full Text] [Related]
11. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Pehlivan D; Bayram Y; Gunes N; Coban Akdemir Z; Shukla A; Bierhals T; Tabakci B; Sahin Y; Gezdirici A; Fatih JM; Gulec EY; Yesil G; Punetha J; Ocak Z; Grochowski CM; Karaca E; Albayrak HM; Radhakrishnan P; Erdem HB; Sahin I; Yildirim T; Bayhan IA; Bursali A; Elmas M; Yuksel Z; Ozdemir O; Silan F; Yildiz O; Yesilbas O; Isikay S; Balta B; Gu S; Jhangiani SN; Doddapaneni H; Hu J; Muzny DM; ; Boerwinkle E; Gibbs RA; Tsiakas K; Hempel M; Girisha KM; Gul D; Posey JE; Elcioglu NH; Tuysuz B; Lupski JR Am J Hum Genet; 2019 Jul; 105(1):132-150. PubMed ID: 31230720 [TBL] [Abstract][Full Text] [Related]
13. Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. Xue S; Maluenda J; Marguet F; Shboul M; Quevarec L; Bonnard C; Ng AY; Tohari S; Tan TT; Kong MK; Monaghan KG; Cho MT; Siskind CE; Sampson JB; Rocha CT; Alkazaleh F; Gonzales M; Rigonnot L; Whalen S; Gut M; Gut I; Bucourt M; Venkatesh B; Laquerrière A; Reversade B; Melki J Am J Hum Genet; 2017 Apr; 100(4):659-665. PubMed ID: 28318499 [TBL] [Abstract][Full Text] [Related]
14. 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 Eur J Med Genet; 2017 May; 60(5):245-249. PubMed ID: 28254648 [TBL] [Abstract][Full Text] [Related]
15. Arthrogryposis multiplex congenita in an Arab kindred: update. Jaber L; Weitz R; Bu X; Fischel-Ghodsian N; Rotter JI; Shohat M Am J Med Genet; 1995 Jan; 55(3):331-4. PubMed ID: 7726232 [TBL] [Abstract][Full Text] [Related]
16. Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care. Dieterich K; Kimber E; Hall JG Am J Med Genet C Semin Med Genet; 2019 Sep; 181(3):345-353. PubMed ID: 31410997 [TBL] [Abstract][Full Text] [Related]