162 related articles for article (PubMed ID: 38467738)
1. Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
Kharrat M; Triki C; Ben Isaa A; Bouchaala W; Alila O; Chouchen J; Ghouliya Y; Kamoun F; Tlili A; Fakhfakh F
J Hum Genet; 2024 Jul; 69(7):291-299. PubMed ID: 38467738
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.
Amin M; Vignal C; Eltaraifee E; Mohammed IN; Hamed AAA; Elseed MA; Babai A; Elbadi I; Mustafa D; Abubaker R; Mustafa M; Drunat S; Elsayed LEO; Ahmed AE; Boespflug-Tanguy O; Dorboz I
BMC Med Genomics; 2022 Nov; 15(1):236. PubMed ID: 36348459
[TBL] [Abstract][Full Text] [Related]
4. Novel Compound Heterozygous Mutations in the
Hnoonual A; Graidist P; Kritsaneepaiboon S; Limprasert P
Front Genet; 2019; 10():61. PubMed ID: 30853973
[TBL] [Abstract][Full Text] [Related]
5. Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in
Bolat H; Ünsel-Bolat G; Derin H; Şen A; Ceylaner S
Mol Syndromol; 2022 Jul; 13(4):263-269. PubMed ID: 36158060
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.
Khalil R; Kenny C; Hill RS; Mochida GH; Nasir R; Partlow JN; Barry BJ; Al-Saffar M; Egan C; Stevens CR; Gabriel SB; Barkovich AJ; Ellison JW; Al-Gazali L; Walsh CA; Chahrour MH
Am J Med Genet B Neuropsychiatr Genet; 2018 Dec; 177(8):736-745. PubMed ID: 30421579
[TBL] [Abstract][Full Text] [Related]
10. Novel Compound Heterozygous Mutation in
Alvarez-Mora MI; Corominas J; Gilissen C; Sanchez A; Madrigal I; Rodriguez-Revenga L
Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33921338
[TBL] [Abstract][Full Text] [Related]
11. Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.
Yousefipour F; Mozhdehipanah H; Mahjoubi F
Mol Genet Genomic Med; 2021 Dec; 9(12):e1610. PubMed ID: 33513295
[TBL] [Abstract][Full Text] [Related]
12. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
Brugger M; Brunet T; Wagner M; Orec LE; Schwaibold EMC; Boy N
Gene; 2021 Feb; 768():145260. PubMed ID: 33164824
[TBL] [Abstract][Full Text] [Related]
13. A novel
Iida A; Takano K; Takeshita E; Abe-Hatano C; Hirabayashi S; Inaba Y; Kosugi S; Kamatani Y; Momozawa Y; Kubo M; Nakagawa E; Inoue K; Goto YI
Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31444167
[TBL] [Abstract][Full Text] [Related]
14. A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.
Kakar N; Goebel I; Daud S; Nürnberg G; Agha N; Ahmad A; Nürnberg P; Kubisch C; Ahmad J; Borck G
Eur J Med Genet; 2012 Dec; 55(12):727-31. PubMed ID: 22989526
[TBL] [Abstract][Full Text] [Related]
15. Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings.
Zhang X; Wang Y; Yang F; Tang J; Xu X; Yang L; Yang XA; Wu D
J Mol Neurosci; 2020 Jan; 70(1):1-8. PubMed ID: 31428919
[TBL] [Abstract][Full Text] [Related]
16. Biallelic variants in
Okur V; Ganapathi M; Wilson A; Chung WK
Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 30275004
[TBL] [Abstract][Full Text] [Related]
17. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
Enomoto Y; Tsurusaki Y; Yokoi T; Abe-Hatano C; Ida K; Naruto T; Mitsui J; Tsuji S; Morishita S; Kurosawa K
Eur J Med Genet; 2020 Jan; 63(1):103610. PubMed ID: 30602132
[TBL] [Abstract][Full Text] [Related]
18. Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family.
Lahbib S; Trabelsi M; Dallali H; Sakka R; Bourourou R; Kefi R; Mrad R; Abdelhak S; Gaddour N
Mol Biol Rep; 2019 Aug; 46(4):4185-4193. PubMed ID: 31098807
[TBL] [Abstract][Full Text] [Related]
19. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Mirzaa GM; Chong JX; Piton A; Popp B; Foss K; Guo H; Harripaul R; Xia K; Scheck J; Aldinger KA; Sajan SA; Tang S; Bonneau D; Beck A; White J; Mahida S; Harris J; Smith-Hicks C; Hoyer J; Zweier C; Reis A; Thiel CT; Jamra RA; Zeid N; Yang A; Farach LS; Walsh L; Payne K; Rohena L; Velinov M; Ziegler A; Schaefer E; Gatinois V; Geneviève D; Simon MEH; Kohler J; Rotenberg J; Wheeler P; Larson A; Ernst ME; Akman CI; Westman R; Blanchet P; Schillaci LA; Vincent-Delorme C; Gripp KW; Mattioli F; Guyader GL; Gerard B; Mathieu-Dramard M; Morin G; Sasanfar R; Ayub M; Vasli N; Yang S; Person R; Monaghan KG; Nickerson DA; van Binsbergen E; Enns GM; Dries AM; Rowe LJ; Tsai ACH; Svihovec S; Friedman J; Agha Z; Qamar R; Rodan LH; Martinez-Agosto J; Ockeloen CW; Vincent M; Sunderland WJ; Bernstein JA; ; Eichler EE; Vincent JB; ; Bamshad MJ
Genet Med; 2020 Mar; 22(3):538-546. PubMed ID: 31723249
[TBL] [Abstract][Full Text] [Related]
20. Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.
Qian Y; Wu B; Lu Y; Zhou W; Wang S; Wang H
BMC Med Genet; 2020 Feb; 21(1):31. PubMed ID: 32050918
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
