149 related articles for article (PubMed ID: 31953988)
1. Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
Assoum M; Bruel AL; Crenshaw ML; Delanne J; Wentzensen IM; McWalter K; Dent KM; Vitobello A; Kuentz P; Thevenon J; Duffourd Y; Thauvin-Robinet C; Faivre L
Am J Med Genet A; 2020 Apr; 182(4):792-797. PubMed ID: 31953988
[TBL] [Abstract][Full Text] [Related]
2. Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
Gangfuß A; Czech A; Hentschel A; Münchberg U; Horvath R; Töpf A; O'Heir E; Lochmüller H; Stehling F; Kiewert C; Sickmann A; Kuechler A; Kaiser FJ; Kölbel H; Christiansen J; Schara-Schmidt U; Roos A
J Pathol; 2022 Jan; 256(1):93-107. PubMed ID: 34599609
[TBL] [Abstract][Full Text] [Related]
3. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M; Krawitz P; Hecht J; Hupalowska A; Miaczynska M; Marschner K; Schlack C; Emmerich D; Kobus K; Kornak U; Robinson PN; Plecko B; Grangl G; Uhrig S; Mundlos S; Horn D
Eur J Hum Genet; 2015 May; 23(5):633-8. PubMed ID: 24916641
[TBL] [Abstract][Full Text] [Related]
4. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
[TBL] [Abstract][Full Text] [Related]
5. Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Ansar M; Ullah F; Paracha SA; Adams DJ; Lai A; Pais L; Iwaszkiewicz J; Millan F; Sarwar MT; Agha Z; Shah SF; Qaisar AA; Falconnet E; Zoete V; Ranza E; Makrythanasis P; Santoni FA; Ahmed J; Katsanis N; Walsh C; Davis EE; Antonarakis SE
Am J Hum Genet; 2019 Jun; 104(6):1073-1087. PubMed ID: 31079899
[TBL] [Abstract][Full Text] [Related]
6. Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans.
Courtland JL; Bradshaw TW; Waitt G; Soderblom EJ; Ho T; Rajab A; Vancini R; Kim IH; Soderling SH
Elife; 2021 Mar; 10():. PubMed ID: 33749590
[TBL] [Abstract][Full Text] [Related]
7. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Santos-Cortez RLP; Khan V; Khan FS; Mughal ZU; Chakchouk I; Lee K; Rasheed M; Hamza R; Acharya A; Ullah E; Saqib MAN; Abbe I; Ali G; Hassan MJ; Khan S; Azeem Z; Ullah I; Bamshad MJ; Nickerson DA; Schrauwen I; Ahmad W; Ansar M; Leal SM
Hum Genet; 2018 Sep; 137(9):735-752. PubMed ID: 30167849
[TBL] [Abstract][Full Text] [Related]
8. A missense mutation in the
Sheereen A; Alaamery M; Bawazeer S; Al Yafee Y; Massadeh S; Eyaid W
J Med Genet; 2017 Apr; 54(4):236-240. PubMed ID: 28143899
[TBL] [Abstract][Full Text] [Related]
9. Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.
Rasool IG; Zahoor MY; Iqbal M; Anjum AA; Ashraf F; Abbas HQ; Baig HMA; Mahmood T; Shehzad W
Genes Genomics; 2021 May; 43(5):503-512. PubMed ID: 33710595
[TBL] [Abstract][Full Text] [Related]
10. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
Amos JS; Huang L; Thevenon J; Kariminedjad A; Beaulieu CL; Masurel-Paulet A; Najmabadi H; Fattahi Z; Beheshtian M; Tonekaboni SH; Tang S; Helbig KL; Alcaraz W; Rivière JB; Faivre L; Innes AM; Lebel RR; Boycott KM;
Clin Genet; 2017 Jan; 91(1):92-99. PubMed ID: 27102954
[TBL] [Abstract][Full Text] [Related]
11. Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.
Ben-Mahmoud A; Al-Shamsi AM; Ali BR; Al-Gazali L
J Mol Neurosci; 2020 Mar; 70(3):320-327. PubMed ID: 31721002
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.
Hamdan N; Mehawej C; Sebaaly G; Jalkh N; Corbani S; Abou-Ghoch J; De Backer O; Chouery E
Clin Genet; 2020 Sep; 98(3):288-292. PubMed ID: 32578875
[TBL] [Abstract][Full Text] [Related]
14. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family.
Binaafar S; Razmara E; Mahdieh N; Sahebjame H; Tavasoli AR; Garshasbi M
Eur J Med Genet; 2020 May; 63(5):103853. PubMed ID: 31978613
[TBL] [Abstract][Full Text] [Related]
15. A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion.
Rashvand Z; Kahrizi K; Najmabadi H; Najafipour R; Omrani MD
J Gene Med; 2022 Apr; 24(4):e3406. PubMed ID: 34967075
[TBL] [Abstract][Full Text] [Related]
16. Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
Ben Ayed I; Bouchaala W; Bouzid A; Feki W; Souissi A; Ben Nsir S; Ben Said M; Sammouda T; Majdoub F; Kharrat I; Kamoun F; Elloumi I; Kamoun H; Tlili A; Masmoudi S; Triki C
Eur J Med Genet; 2021 Dec; 64(12):104373. PubMed ID: 34737153
[TBL] [Abstract][Full Text] [Related]
17. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Ma L; Bayram Y; McLaughlin HM; Cho MT; Krokosky A; Turner CE; Lindstrom K; Bupp CP; Mayberry K; Mu W; Bodurtha J; Weinstein V; Zadeh N; Alcaraz W; Powis Z; Shao Y; Scott DA; Lewis AM; White JJ; Jhangiani SN; Gulec EY; Lalani SR; Lupski JR; Retterer K; Schnur RE; Wentzensen IM; Bale S; Chung WK
Hum Genet; 2016 Dec; 135(12):1399-1409. PubMed ID: 27681385
[TBL] [Abstract][Full Text] [Related]
18.
Lehalle D; Mosca-Boidron AL; Begtrup A; Boute-Benejean O; Charles P; Cho MT; Clarkson A; Devinsky O; Duffourd Y; Duplomb-Jego L; Gérard B; Jacquette A; Kuentz P; Masurel-Paulet A; McDougall C; Moutton S; Olivié H; Park SM; Rauch A; Revencu N; Rivière JB; Rubin K; Simonic I; Shears DJ; Smol T; Taylor Tavares AL; Terhal P; Thevenon J; Van Gassen K; Vincent-Delorme C; Willemsen MH; Wilson GN; Zackai E; Zweier C; Callier P; Thauvin-Robinet C; Faivre L
J Med Genet; 2017 Jul; 54(7):479-488. PubMed ID: 28119487
[TBL] [Abstract][Full Text] [Related]
19. Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
Philips AK; Pinelli M; de Bie CI; Mustonen A; Määttä T; Arts HH; Wu K; Roepman R; Moilanen JS; Raza S; Varilo T; Scala G; Cocozza S; Gilissen C; van Gassen KL; Järvelä I
Clin Genet; 2017 Jan; 91(1):100-105. PubMed ID: 27311568
[TBL] [Abstract][Full Text] [Related]
20. DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Meissner LE; Macnamara EF; D'Souza P; Yang J; Vezina G; ; Ferreira CR; Zein WM; Tifft CJ; Adams DR
Mol Genet Genomic Med; 2020 Dec; 8(12):e1544. PubMed ID: 33159716
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
