427 related articles for article (PubMed ID: 33060286)
21. 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]
22. Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
Alkhunaizi E; Martin N; Jelin AC; Rosner M; Bailey DJ; Steiner LA; Lakhani S; Ji W; Katzman PJ; Forster KR; Jarinova O; Shannon P; Chitayat D;
Am J Med Genet A; 2023 Mar; 191(3):760-769. PubMed ID: 36495114
[TBL] [Abstract][Full Text] [Related]
23. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ; Yau KS; Ong R; Slee J; McGillivray G; Barnett CP; Haliloglu G; Talim B; Akcoren Z; Kariminejad A; Cairns A; Clarke NF; Freckmann ML; Romero NB; Williams D; Sewry CA; Colley A; Ryan MM; Kiraly-Borri C; Sivadorai P; Allcock RJ; Beeson D; Maxwell S; Davis MR; Laing NG; Ravenscroft G
Orphanet J Rare Dis; 2015 Nov; 10():148. PubMed ID: 26578207
[TBL] [Abstract][Full Text] [Related]
24. PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Yamaguchi T; Takano K; Inaba Y; Morikawa M; Motobayashi M; Kawamura R; Wakui K; Nishi E; Hirabayashi SI; Fukushima Y; Kato H; Takahashi J; Kosho T
Am J Med Genet A; 2019 Jun; 179(6):948-957. PubMed ID: 30941898
[TBL] [Abstract][Full Text] [Related]
25. Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family.
Zapata-Aldana E; Al-Mobarak SB; Karp N; Campbell C
Am J Med Genet A; 2019 Jun; 179(6):1034-1041. PubMed ID: 30938034
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
Drury S; Boustred C; Tekman M; Stanescu H; Kleta R; Lench N; Chitty LS; Scott RH
Am J Med Genet A; 2014 Jul; 164A(7):1777-83. PubMed ID: 24700531
[TBL] [Abstract][Full Text] [Related]
28. The genomic and clinical landscape of fetal akinesia.
Pergande M; Motameny S; Özdemir Ö; Kreutzer M; Wang H; Daimagüler HS; Becker K; Karakaya M; Ehrhardt H; Elcioglu N; Ostojic S; Chao CM; Kawalia A; Duman Ö; Koy A; Hahn A; Reimann J; Schoner K; Schänzer A; Westhoff JH; Schwaibold EMC; Cossee M; Imbert-Bouteille M; von Pein H; Haliloglu G; Topaloglu H; Altmüller J; Nürnberg P; Thiele H; Heller R; Cirak S
Genet Med; 2020 Mar; 22(3):511-523. PubMed ID: 31680123
[TBL] [Abstract][Full Text] [Related]
29. Bi-allelic loss-of-function variants in
Falb RJ; Müller AJ; Klein W; Grimmel M; Grasshoff U; Spranger S; Stöbe P; Gauck D; Kuechler A; Dikow N; Schwaibold EMC; Schmidt C; Averdunk L; Buchert R; Heinrich T; Prodan N; Park J; Kehrer M; Sturm M; Kelemen O; Hartmann S; Horn D; Emmerich D; Hirt N; Neumann A; Kristiansen G; Gembruch U; Haen S; Siebert R; Hentze S; Hoopmann M; Ossowski S; Waldmüller S; Beck-Wödl S; Gläser D; Tekesin I; Distelmaier F; Riess O; Kagan KO; Dufke A; Haack TB
J Med Genet; 2023 Jan; 60(1):48-56. PubMed ID: 34740919
[TBL] [Abstract][Full Text] [Related]
30. Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
Alvarado DM; Buchan JG; Gurnett CA; Dobbs MB
J Bone Joint Surg Am; 2011 Jun; 93(11):1045-50. PubMed ID: 21531865
[TBL] [Abstract][Full Text] [Related]
31. Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.
Poninska JK; Bilinska ZT; Franaszczyk M; Michalak E; Rydzanicz M; Szpakowski E; Pollak A; Milanowska B; Truszkowska G; Chmielewski P; Sioma A; Janaszek-Sitkowska H; Klisiewicz A; Michalowska I; Makowiecka-Ciesla M; Kolsut P; Stawinski P; Foss-Nieradko B; Szperl M; Grzybowski J; Hoffman P; Januszewicz A; Kusmierczyk M; Ploski R
J Transl Med; 2016 May; 14(1):115. PubMed ID: 27146836
[TBL] [Abstract][Full Text] [Related]
32. Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.
Agolini E; Cherchi C; Bellacchio E; Martinelli D; Cocciadiferro D; Cutrera R; Chiarini Testa MB; Barone C; Bianca S; Novelli A
Clin Genet; 2020 Apr; 97(4):649-654. PubMed ID: 31846058
[TBL] [Abstract][Full Text] [Related]
33. Novel
Böhm J; Malfatti E; Oates E; Jones K; Brochier G; Boland A; Deleuze JF; Romero NB; Laporte J
J Med Genet; 2019 Sep; 56(9):617-621. PubMed ID: 30327447
[TBL] [Abstract][Full Text] [Related]
34. Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints SGM; Hennig F; Colombo R; Jacquemont S; Terhal P; Zimmerman HH; Hunt D; Mendelsohn BA; Kordaß U; Webster R; Sinnema M; Abdul-Rahman O; Suckow V; Fernández-Jaén A; van Roozendaal K; Stevens SJC; Macville MVE; Al-Nasiry S; van Gassen K; Utzig N; Koudijs SM; McGregor L; Maas SM; Baralle D; Dixit A; Wieacker P; Lee M; Lee AS; Engle EC; Houge G; Gradek GA; Douglas AGL; Longman C; Joss S; Velasco D; Hennekam RC; Hirata H; Kalscheuer VM
Hum Mutat; 2019 Dec; 40(12):2270-2285. PubMed ID: 31206972
[TBL] [Abstract][Full Text] [Related]
35. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.
Houston BJ; Riera-Escamilla A; Wyrwoll MJ; Salas-Huetos A; Xavier MJ; Nagirnaja L; Friedrich C; Conrad DF; Aston KI; Krausz C; Tüttelmann F; O'Bryan MK; Veltman JA; Oud MS
Hum Reprod Update; 2021 Dec; 28(1):15-29. PubMed ID: 34498060
[TBL] [Abstract][Full Text] [Related]
36. MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
Wilbe M; Ekvall S; Eurenius K; Ericson K; Casar-Borota O; Klar J; Dahl N; Ameur A; Annerén G; Bondeson ML
J Med Genet; 2015 Mar; 52(3):195-202. PubMed ID: 25612909
[TBL] [Abstract][Full Text] [Related]
37. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
Alkhunaizi E; Shuster S; Shannon P; Siu VM; Darilek S; Mohila CA; Boissel S; Ellezam B; Fallet-Bianco C; Laberge AM; Zandberg J; Injeyan M; Hazrati LN; Hamdan F; Chitayat D
Am J Med Genet A; 2019 Mar; 179(3):386-396. PubMed ID: 30652412
[TBL] [Abstract][Full Text] [Related]
38. Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.
Seed E; Noon F; Milnes D; Roscioli T; Kristensen K; Ellwood D; DaSilva Costa F
Prenat Diagn; 2023 Dec; 43(13):1678-1681. PubMed ID: 38111203
[TBL] [Abstract][Full Text] [Related]
39. Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata MB; Mathijssen IB; Smit M; Baas F; de Vries JI; van der Voorn JP; Kluijt I; Hagen MA; Blom EW; Sistermans E; Meijers-Heijboer H; Waisfisz Q; Weiss MM; Groffen AJ
Eur J Hum Genet; 2015 Sep; 23(9):1151-7. PubMed ID: 25537362
[TBL] [Abstract][Full Text] [Related]
40. Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.
Wang N; Zhang Y; Gedvilaite E; Loh JW; Lin T; Liu X; Liu CG; Kumar D; Donnelly R; Raymond K; Schuchman EH; Sleat DE; Lobel P; Xing J
Hum Mutat; 2017 Nov; 38(11):1491-1499. PubMed ID: 28703315
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
