434 related articles for article (PubMed ID: 28574218)
21. BRAT1 mutations present with a spectrum of clinical severity.
Srivastava S; Olson HE; Cohen JS; Gubbels CS; Lincoln S; Davis BT; Shahmirzadi L; Gupta S; Picker J; Yu TW; Miller DT; Soul JS; Poretti A; Naidu S
Am J Med Genet A; 2016 Sep; 170(9):2265-73. PubMed ID: 27282546
[TBL] [Abstract][Full Text] [Related]
22. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
Heimer G; Marek-Yagel D; Eyal E; Barel O; Oz Levi D; Hoffmann C; Ruzzo EK; Ganelin-Cohen E; Lancet D; Pras E; Rechavi G; Nissenkorn A; Anikster Y; Goldstein DB; Ben Zeev B
Clin Genet; 2015 Oct; 88(4):327-35. PubMed ID: 26138499
[TBL] [Abstract][Full Text] [Related]
23. Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
Langley KG; Brown J; Gerber RJ; Fox J; Friez MJ; Lyons M; Schrier Vergano SA
Am J Med Genet A; 2015 Dec; 167A(12):3180-5. PubMed ID: 26338144
[TBL] [Abstract][Full Text] [Related]
24. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
Rafiullah R; Aslamkhan M; Paramasivam N; Thiel C; Mustafa G; Wiemann S; Schlesner M; Wade RC; Rappold GA; Berkel S
J Med Genet; 2016 Feb; 53(2):138-44. PubMed ID: 26566883
[TBL] [Abstract][Full Text] [Related]
25. Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.
Pedurupillay CR; Barøy T; Holmgren A; Blomhoff A; Vigeland MD; Sheng Y; Frengen E; Strømme P; Misceo D
Am J Med Genet A; 2015 Mar; 167A(3):657-63. PubMed ID: 25691420
[TBL] [Abstract][Full Text] [Related]
26. Cryo-EM structures of human GMPPA-GMPPB complex reveal how cells maintain GDP-mannose homeostasis.
Zheng L; Liu Z; Wang Y; Yang F; Wang J; Huang W; Qin J; Tian M; Cai X; Liu X; Mo X; Gao N; Jia D
Nat Struct Mol Biol; 2021 May; 28(5):1-12. PubMed ID: 33986552
[TBL] [Abstract][Full Text] [Related]
27. Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.
Lugli L; Bariola MC; Ferri L; Lucaccioni L; Bertucci E; Cattini U; Torcetta F; Morrone A; Iughetti L; Berardi A
Am J Med Genet A; 2021 Apr; 185(4):1187-1194. PubMed ID: 33394555
[TBL] [Abstract][Full Text] [Related]
28. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
Fan Y; Yin W; Hu B; Kline AD; Zhang VW; Liang D; Sun Y; Wang L; Tang S; Powis Z; Li L; Yan H; Shi Z; Yang X; Chen Y; Wang J; Jiang Y; Tan H; Gu X; Wu L; Yu Y
Am J Hum Genet; 2018 Sep; 103(3):448-455. PubMed ID: 30122539
[TBL] [Abstract][Full Text] [Related]
29. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.
Ben-Salem S; Gleeson JG; Al-Shamsi AM; Islam B; Hertecant J; Ali BR; Al-Gazali L
Metab Brain Dis; 2015 Jun; 30(3):687-94. PubMed ID: 25227173
[TBL] [Abstract][Full Text] [Related]
30. Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Garret P; Ebstein F; Delplancq G; Dozieres-Puyravel B; Boughalem A; Auvin S; Duffourd Y; Klafack S; Zieba BA; Mahmoudi S; Singh KK; Duplomb L; Thauvin-Robinet C; Costa JM; Krüger E; Trost D; Verloes A; Faivre L; Vitobello A
Clin Genet; 2020 Apr; 97(4):567-575. PubMed ID: 31997314
[TBL] [Abstract][Full Text] [Related]
31. Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
Hampshire K; Martin PM; Carlston C; Slavotinek A
Am J Med Genet A; 2020 Aug; 182(8):1923-1932. PubMed ID: 32506774
[TBL] [Abstract][Full Text] [Related]
32. Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
Lozano R; Herman K; Rothfuss M; Rieger H; Bayrak-Toydemir P; Aprile D; Fruscione F; Zara F; Fassio A
Am J Med Genet A; 2016 Dec; 170(12):3207-3214. PubMed ID: 27541164
[TBL] [Abstract][Full Text] [Related]
33. Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.
Yang Q; Qin Z; Zhang Q; Yi S; Yi S; Luo J
BMC Med Genomics; 2022 Mar; 15(1):67. PubMed ID: 35321723
[TBL] [Abstract][Full Text] [Related]
34. Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.
Zahra Q; Çakmak Ç; Koprulu M; Shuaib M; Sobreira N; Kalsner L; Sobreira J; Guillen Sacoto MJ; Malik S; Tolun A
J Hum Genet; 2020 Dec; 65(12):1115-1123. PubMed ID: 32737394
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.
Naseer MI; Rasool M; Jan MM; Chaudhary AG; Pushparaj PN; Abuzenadah AM; Al-Qahtani MH
J Neurol Sci; 2016 Dec; 371():121-125. PubMed ID: 27871432
[TBL] [Abstract][Full Text] [Related]
37. A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome.
Sharkia R; Zalan A; Jabareen-Masri A; Zahalka H; Mahajnah M
Eur J Med Genet; 2019 Nov; 62(11):103549. PubMed ID: 30296593
[TBL] [Abstract][Full Text] [Related]
38. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
Courcet JB; Faivre L; Malzac P; Masurel-Paulet A; Lopez E; Callier P; Lambert L; Lemesle M; Thevenon J; Gigot N; Duplomb L; Ragon C; Marle N; Mosca-Boidron AL; Huet F; Philippe C; Moncla A; Thauvin-Robinet C
J Med Genet; 2012 Dec; 49(12):731-6. PubMed ID: 23099646
[TBL] [Abstract][Full Text] [Related]
39. Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
van der Donk R; Jansen S; Schuurs-Hoeijmakers JHM; Koolen DA; Goltstein LCMJ; Hoischen A; Brunner HG; Kemmeren P; Nellåker C; Vissers LELM; de Vries BBA; Hehir-Kwa JY
Genet Med; 2019 Aug; 21(8):1719-1725. PubMed ID: 30568311
[TBL] [Abstract][Full Text] [Related]
40. Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE; Hurst ACE; Bowling KM; Cristian I; Haynes D; Adstamongkonkul D; Schnappauf O; Beck DB; Brewer C; Parikh AS; Shinde DN; Donaldson A; Brautbar A; Koene S; van Haeringen A; Piton A; Capri Y; Furlan M; Gardella E; Møller RS; van de Beek I; Zuurbier L; Lakeman P; Bayat A; Martinez J; Signer R; Torring PM; Engelund MB; Gripp KW; Amlie-Wolf L; Henderson LB; Midro AT; Tarasów E; Stasiewicz-Jarocka B; Moskal-Jasinska D; Vos P; Boschann F; Stoltenburg C; Puk O; Mero IL; Lossius K; Mignot C; Keren B; Acosta Guio JC; Briceño I; Gomez A; Yang Y; Stankiewicz P
Am J Med Genet A; 2021 May; 185(5):1366-1378. PubMed ID: 33522091
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]