149 related articles for article (PubMed ID: 31953988)
21. 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]
22. 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]
23. Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.
Al-Amri A; Saegh AA; Al-Mamari W; El-Asrag ME; Ivorra JL; Cardno AG; Inglehearn CF; Clapcote SJ; Ali M
Am J Med Genet A; 2016 Jul; 170(7):1826-31. PubMed ID: 27148795
[TBL] [Abstract][Full Text] [Related]
24. Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
Agha Z; Iqbal Z; Azam M; Ayub H; Vissers LE; Gilissen C; Ali SH; Riaz M; Veltman JA; Pfundt R; van Bokhoven H; Qamar R
PLoS One; 2014; 9(11):e112687. PubMed ID: 25405613
[TBL] [Abstract][Full Text] [Related]
25. A novel variant of ST3GAL3 causes non-syndromic autosomal recessive intellectual disability in Iranian patients.
Farajollahi Z; Razmara E; Heidari E; Jafarinia E; Garshasbi M
J Gene Med; 2020 Nov; 22(11):e3253. PubMed ID: 32666583
[TBL] [Abstract][Full Text] [Related]
26. Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
Moortgat S; Lederer D; Deprez M; Buzatu M; Clapuyt P; Boulanger S; Benoit V; Mary S; Guichet A; Ziegler A; Colin E; Bonneau D; Maystadt I
Eur J Med Genet; 2018 Aug; 61(8):442-450. PubMed ID: 29510240
[TBL] [Abstract][Full Text] [Related]
27. HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.
Reichert SC; Li R; A Turner S; van Jaarsveld RH; Massink MPG; van den Boogaard MH; Del Toro M; Rodríguez-Palmero A; Fourcade S; Schlüter A; Planas-Serra L; Pujol A; Iascone M; Maitz S; Loong L; Stewart H; De Franco E; Ellard S; Frank J; Lewandowski R
Clin Genet; 2020 Jul; 98(1):91-98. PubMed ID: 32335897
[TBL] [Abstract][Full Text] [Related]
28. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
Mol Autism; 2019; 10():35. PubMed ID: 31649809
[TBL] [Abstract][Full Text] [Related]
29. ELP2 is a novel gene implicated in neurodevelopmental disabilities.
Cohen JS; Srivastava S; Farwell KD; Lu HM; Zeng W; Lu H; Chao EC; Fatemi A
Am J Med Genet A; 2015 Jun; 167(6):1391-5. PubMed ID: 25847581
[TBL] [Abstract][Full Text] [Related]
30. Biallelic variants in Plexin B2 (
Smith CEL; Laugel-Haushalter V; Hany U; Best S; Taylor RL; Poulter JA; Wortmann SB; Feichtinger RG; Mayr JA; Al Bahlani S; Nikolopoulos G; Rigby A; Black GC; Watson CM; Mansour S; Inglehearn CF; Mighell AJ; Bloch-Zupan A;
J Med Genet; 2024 Jun; 61(7):689-698. PubMed ID: 38458752
[TBL] [Abstract][Full Text] [Related]
31. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
Smogavec M; Cleall A; Hoyer J; Lederer D; Nassogne MC; Palmer EE; Deprez M; Benoit V; Maystadt I; Noakes C; Leal A; Shaw M; Gecz J; Raymond L; Reis A; Shears D; Brockmann K; Zweier C
J Med Genet; 2016 Dec; 53(12):820-827. PubMed ID: 27439707
[TBL] [Abstract][Full Text] [Related]
32. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Voigt C; Mégarbané A; Neveling K; Czeschik JC; Albrecht B; Callewaert B; von Deimling F; Hehr A; Falkenberg Smeland M; König R; Kuechler A; Marcelis C; Puiu M; Reardon W; Riise Stensland HM; Schweiger B; Steehouwer M; Teller C; Martin M; Rahmann S; Hehr U; Brunner HG; Lüdecke HJ; Wieczorek D
Orphanet J Rare Dis; 2013 Jul; 8():110. PubMed ID: 23879989
[TBL] [Abstract][Full Text] [Related]
33. A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation.
Horn D; Prescott T; Houge G; Brække K; Rosendahl K; Nishimura G; FitzPatrick DR; Spranger J
Eur J Med Genet; 2015 Aug; 58(8):387-91. PubMed ID: 26116559
[TBL] [Abstract][Full Text] [Related]
34. Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
Abbasi AA; Blaesius K; Hu H; Latif Z; Picker-Minh S; Khan MN; Farooq S; Khan MA; Kaindl AM
Am J Med Genet B Neuropsychiatr Genet; 2017 Dec; 174(8):839-845. PubMed ID: 29031008
[TBL] [Abstract][Full Text] [Related]
35. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
Thomas AC; Williams H; Setó-Salvia N; Bacchelli C; Jenkins D; O'Sullivan M; Mengrelis K; Ishida M; Ocaka L; Chanudet E; James C; Lescai F; Anderson G; Morrogh D; Ryten M; Duncan AJ; Pai YJ; Saraiva JM; Ramos F; Farren B; Saunders D; Vernay B; Gissen P; Straatmaan-Iwanowska A; Baas F; Wood NW; Hersheson J; Houlden H; Hurst J; Scott R; Bitner-Glindzicz M; Moore GE; Sousa SB; Stanier P
Am J Hum Genet; 2014 Nov; 95(5):611-21. PubMed ID: 25439728
[TBL] [Abstract][Full Text] [Related]
36. PLXNA2 as a candidate gene in patients with intellectual disability.
Altuame FD; Shamseldin HE; Albatti TH; Hashem M; Ewida N; Abdulwahab F; Alkuraya FS
Am J Med Genet A; 2021 Dec; 185(12):3859-3865. PubMed ID: 34327814
[TBL] [Abstract][Full Text] [Related]
37. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
Di Donato N; Neuhann T; Kahlert AK; Klink B; Hackmann K; Neuhann I; Novotna B; Schallner J; Krause C; Glass IA; Parnell SE; Benet-Pages A; Nissen AM; Berger W; Altmüller J; Thiele H; Weber BH; Schrock E; Dobyns WB; Bier A; Rump A
J Med Genet; 2016 Jun; 53(6):419-25. PubMed ID: 26843489
[TBL] [Abstract][Full Text] [Related]
38. Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.
Bilal Shamsi M; Saleh M; Almuntashri M; Alharby E; Samman M; Peake RWA; Al-Fadhli FM; Alasmari A; Faqeih EA; Almontashiri NAM
J Hum Genet; 2021 Jul; 66(7):689-695. PubMed ID: 33500540
[TBL] [Abstract][Full Text] [Related]
39. A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.
Bourque DK; Hartley T; Nikkel SM; Pohl D; Tétreault M; Kernohan KD; ; Dyment DA
Eur J Med Genet; 2018 Feb; 61(2):89-93. PubMed ID: 29066376
[TBL] [Abstract][Full Text] [Related]
40. Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.
Beheshtian M; Fattahi Z; Fadaee M; Vazehan R; Jamali P; Parsimehr E; Kamgar M; Zonooz MF; Mahdavi SS; Kalhor Z; Arzhangi S; Abedini SS; Kermani FS; Mojahedi F; Kalscheuer VM; Ropers HH; Kariminejad A; Najmabadi H; Kahrizi K
Clin Genet; 2019 Jun; 95(6):718-725. PubMed ID: 30950035
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]