164 related articles for article (PubMed ID: 36067766)
41. Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction.
LaConte LEW; Chavan V; Elias AF; Hudson C; Schwanke C; Styren K; Shoof J; Kok F; Srivastava S; Mukherjee K
Hum Genet; 2018 Mar; 137(3):231-246. PubMed ID: 29426960
[TBL] [Abstract][Full Text] [Related]
42. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Tokita MJ; Chen CA; Chitayat D; Macnamara E; Rosenfeld JA; Hanchard N; Lewis AM; Brown CW; Marom R; Shao Y; Novacic D; Wolfe L; Wahl C; Tifft CJ; Toro C; Bernstein JA; Hale CL; Silver J; Hudgins L; Ananth A; Hanson-Kahn A; Shuster S; ; Magoulas PL; Patel VN; Zhu W; Chen SM; Jiang Y; Liu P; Eng CM; Batkovskyte D; di Ronza A; Sardiello M; Lee BH; Schaaf CP; Yang Y; Wang X
Am J Hum Genet; 2018 Jul; 103(1):154-162. PubMed ID: 29961569
[TBL] [Abstract][Full Text] [Related]
43. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
Weiss K; Terhal PA; Cohen L; Bruccoleri M; Irving M; Martinez AF; Rosenfeld JA; Machol K; Yang Y; Liu P; Walkiewicz M; Beuten J; Gomez-Ospina N; Haude K; Fong CT; Enns GM; Bernstein JA; Fan J; Gotway G; Ghorbani M; ; van Gassen K; Monroe GR; van Haaften G; Basel-Vanagaite L; Yang XJ; Campeau PM; Muenke M
Am J Hum Genet; 2016 Oct; 99(4):934-941. PubMed ID: 27616479
[TBL] [Abstract][Full Text] [Related]
44. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
Kaymakcalan H; Yarman Y; Goc N; Toy F; Meral C; Ercan-Sencicek AG; Gunel M
Am J Med Genet A; 2018 Feb; 176(2):421-425. PubMed ID: 29226631
[TBL] [Abstract][Full Text] [Related]
45. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
Moortgat S; Désir J; Benoit V; Boulanger S; Pendeville H; Nassogne MC; Lederer D; Maystadt I
Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055
[TBL] [Abstract][Full Text] [Related]
46. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
Ansar M; Chung HL; Al-Otaibi A; Elagabani MN; Ravenscroft TA; Paracha SA; Scholz R; Abdel Magid T; Sarwar MT; Shah SF; Qaisar AA; Makrythanasis P; Marcogliese PC; Kamsteeg EJ; Falconnet E; Ranza E; Santoni FA; Aldhalaan H; Al-Asmari A; Faqeih EA; Ahmed J; Kornau HC; Bellen HJ; Antonarakis SE
Am J Hum Genet; 2019 Nov; 105(5):907-920. PubMed ID: 31607425
[TBL] [Abstract][Full Text] [Related]
47. Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.
Pascolini G; Gaudioso F; Passarelli C; Novelli A; Di Giosaffatte N; Majore S; Grammatico P
J Mol Neurosci; 2021 Dec; 71(12):2474-2481. PubMed ID: 34227036
[TBL] [Abstract][Full Text] [Related]
48. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Haag N; Tan EC; Begemann M; Buschmann L; Kraft F; Holschbach P; Lai AHM; Brett M; Mochida GH; DiTroia S; Pais L; Neil JE; Al-Saffar M; Bastaki L; Walsh CA; Kurth I; Knopp C
Eur J Hum Genet; 2021 Nov; 29(11):1663-1668. PubMed ID: 34413497
[TBL] [Abstract][Full Text] [Related]
49. De novo missense variants in
Malhotra A; Ziegler A; Shu L; Perrier R; Amlie-Wolf L; Wohler E; Lygia de Macena Sobreira N; Colin E; Vanderver A; Sherbini O; Stouffs K; Scalais E; Serretti A; Barth M; Navet B; Rollier P; Xi H; Wang H; Zhang H; Perry DL; Ferrarini A; Colombo R; Pepler A; Schneider A; Tomiwa K; Okamoto N; Matsumoto N; Miyake N; Taft R; Mao X; Bonneau D
J Med Genet; 2021 Oct; 58(10):712-716. PubMed ID: 32820033
[TBL] [Abstract][Full Text] [Related]
50. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Manivannan SN; Roovers J; Smal N; Myers CT; Turkdogan D; Roelens F; Kanca O; Chung HL; Scholz T; Hermann K; Bierhals T; Caglayan HS; Stamberger H; ; Mefford H; de Jonghe P; Yamamoto S; Weckhuysen S; Bellen HJ
Brain; 2022 Jun; 145(5):1684-1697. PubMed ID: 34788397
[TBL] [Abstract][Full Text] [Related]
51. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM; Kalvakuri S; de Boer E; Geuer S; Oud M; van Outersterp I; Kwint M; Witmond M; Kersten S; Polla DL; Weijers D; Begtrup A; McWalter K; Ruiz A; Gabau E; Morton JEV; Griffith C; Weiss K; Gamble C; Bartley J; Vernon HJ; Brunet K; Ruivenkamp C; Kant SG; Kruszka P; Larson A; Afenjar A; Billette de Villemeur T; Nugent K; ; Raymond FL; Venselaar H; Demurger F; Soler-Alfonso C; Li D; Bhoj E; Hayes I; Hamilton NP; Ahmad A; Fisher R; van den Born M; Willems M; Sorlin A; Delanne J; Moutton S; Christophe P; Mau-Them FT; Vitobello A; Goel H; Massingham L; Phornphutkul C; Schwab J; Keren B; Charles P; Vreeburg M; De Simone L; Hoganson G; Iascone M; Milani D; Evenepoel L; Revencu N; Ward DI; Burns K; Krantz I; Raible SE; Murrell JR; Wood K; Cho MT; van Bokhoven H; Muenke M; Kleefstra T; Bodmer R; de Brouwer APM
Am J Hum Genet; 2020 Jul; 107(1):164-172. PubMed ID: 32553196
[TBL] [Abstract][Full Text] [Related]
52. Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
Valenzuela I; Codina M; Fernández-Álvarez P; Mur P; Valle L; Tizzano EF; Cuscó I
Am J Med Genet A; 2020 Nov; 182(11):2742-2745. PubMed ID: 32896090
[TBL] [Abstract][Full Text] [Related]
53. The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.
Yılmaz M; Kamaşak T; Teralı K; Çebi AH; Türkyılmaz A
Am J Med Genet A; 2024 May; 194(5):e63535. PubMed ID: 38189198
[TBL] [Abstract][Full Text] [Related]
54. Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.
Maini I; Caraffi SG; Peluso F; Valeri L; Nicoli D; Laurie S; Baldo C; Zuffardi O; Garavelli L
Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34200686
[TBL] [Abstract][Full Text] [Related]
55. The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant.
Ogura Y; Uehara T; Ujibe K; Yoshihashi H; Yamada M; Suzuki H; Takenouchi T; Kosaki K; Hirata H
Am J Med Genet A; 2022 Apr; 188(4):1184-1192. PubMed ID: 35018717
[TBL] [Abstract][Full Text] [Related]
56. WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.
Jiang C; Gai N; Zou Y; Zheng Y; Ma R; Wei X; Liang D; Wu L
Clin Chim Acta; 2017 Jan; 464():24-29. PubMed ID: 27983999
[TBL] [Abstract][Full Text] [Related]
57. PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum.
Borghesi A; Plumari M; Rossi E; Viganò C; Cerbo RM; Codazzi AC; Valente EM; Gana S
Am J Med Genet A; 2022 Feb; 188(2):635-641. PubMed ID: 34713961
[TBL] [Abstract][Full Text] [Related]
58. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E; Hervieu A; Kaserer T; Swagemakers SMA; Goos JAC; Popoola O; Ortiz-Ruiz MJ; Barbaro-Dieber T; Bownass L; Brilstra EH; Brimble E; Foulds N; Grebe TA; Harder AVE; Lees MM; Monaghan KG; Newbury-Ecob RA; Ong KR; Osio D; Reynoso Santos FJ; Ruzhnikov MRZ; Telegrafi A; van Binsbergen E; van Dooren MF; ; van der Spek PJ; Blagg J; Twigg SRF; Mathijssen IMJ; Clarke PA; Wilkie AOM
Am J Hum Genet; 2019 Apr; 104(4):709-720. PubMed ID: 30905399
[TBL] [Abstract][Full Text] [Related]
59. A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.
Trinh J; Hüning I; Yüksel Z; Baalmann N; Imhoff S; Klein C; Rolfs A; Gillessen-Kaesbach G; Lohmann K
J Hum Genet; 2018 Sep; 63(9):997-1001. PubMed ID: 29899504
[TBL] [Abstract][Full Text] [Related]
60. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Assia Batzir N; Posey JE; Song X; Akdemir ZC; Rosenfeld JA; Brown CW; Chen E; Holtrop SG; Mizerik E; Nieto Moreno M; Payne K; Raas-Rothschild A; Scott R; Vernon HJ; Zadeh N; ; Lupski JR; Sutton VR
Am J Med Genet A; 2020 Jan; 182(1):38-52. PubMed ID: 31782611
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
