These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
270 related articles for article (PubMed ID: 34737153)
1. 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]
2. A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family. Abdullah U; Farooq M; Mang Y; Marriam Bakhtiar S; Fatima A; Hansen L; Kjaer KW; Larsen LA; Faryal S; Tommerup N; Mahmood Baig S Eur J Med Genet; 2017 Dec; 60(12):627-630. PubMed ID: 28778786 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability. Saima ; Khan A; Ali S; Jiang J; Miao Z; Kamil A; Khan SN; Arold ST Neurogenetics; 2024 Jul; 25(3):179-191. PubMed ID: 38795246 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing. Tan CA; Topper S; Ward Melver C; Stein J; Reeder A; Arndt K; Das S Brain Dev; 2014 Apr; 36(4):351-5. PubMed ID: 23726037 [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. A new association between CDK5RAP2 microcephaly and congenital cataracts. Alfares A; Alhufayti I; Alsubaie L; Alowain M; Almass R; Alfadhel M; Kaya N; Eyaid W Ann Hum Genet; 2018 May; 82(3):165-170. PubMed ID: 29271474 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability. Aslanger AD; Goncu B; Duzenli OF; Yucesan E; Sengenc E; Yesil G J Hum Genet; 2022 May; 67(5):279-284. PubMed ID: 34983975 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation. Issa L; Mueller K; Seufert K; Kraemer N; Rosenkotter H; Ninnemann O; Buob M; Kaindl AM; Morris-Rosendahl DJ Orphanet J Rare Dis; 2013 Apr; 8():59. PubMed ID: 23587236 [TBL] [Abstract][Full Text] [Related]
14. Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta. Wilton KM; Gunderson LB; Hasadsri L; Wood CP; Schimmenti LA Mol Genet Genomic Med; 2020 May; 8(5):e1211. PubMed ID: 32162493 [TBL] [Abstract][Full Text] [Related]
15. An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan. Rasool S; Baig JM; Moawia A; Ahmad I; Iqbal M; Waseem SS; Asif M; Abdullah U; Makhdoom EUH; Kaygusuz E; Zakaria M; Ramzan S; Haque SU; Mir A; Anjum I; Fiaz M; Ali Z; Tariq M; Saba N; Hussain W; Budde B; Irshad S; Noegel AA; Höning S; Baig SM; Nürnberg P; Hussain MS Mol Genet Genomic Med; 2020 Sep; 8(9):e1408. PubMed ID: 32677750 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Nasser H; Vera L; Elmaleh-Bergès M; Steindl K; Letard P; Teissier N; Ernault A; Guimiot F; Afenjar A; Moutard ML; Héron D; Alembik Y; Momtchilova M; Milani P; Kubis N; Pouvreau N; Zollino M; Guilmin Crepon S; Kaguelidou F; Gressens P; Verloes A; Rauch A; El Ghouzzi V; Drunat S; Passemard S J Med Genet; 2020 Jun; 57(6):389-399. PubMed ID: 32015000 [TBL] [Abstract][Full Text] [Related]
18. A novel variant in NSUN2 causes intellectual disability in a Chinese family. Yang Q; Zhang Q; Qin Z; Yi S; Luo J BMC Med Genomics; 2024 Apr; 17(1):95. PubMed ID: 38643142 [TBL] [Abstract][Full Text] [Related]
19. GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Hosseini M; Fattahi Z; Abedini SS; Hu H; Ropers HH; Kalscheuer VM; Najmabadi H; Kahrizi K Am J Med Genet A; 2019 Jan; 179(1):13-19. PubMed ID: 30549416 [TBL] [Abstract][Full Text] [Related]