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.
158 related articles for article (PubMed ID: 32015000)
1. 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]
2. 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]
3. 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]
4. 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]
6. 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]
7. Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. Hassan MJ; Khurshid M; Azeem Z; John P; Ali G; Chishti MS; Ahmad W BMC Med Genet; 2007 Sep; 8():58. PubMed ID: 17764569 [TBL] [Abstract][Full Text] [Related]
9. CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. Sukumaran SK; Stumpf M; Salamon S; Ahmad I; Bhattacharya K; Fischer S; Müller R; Altmüller J; Budde B; Thiele H; Tariq M; Malik NA; Nürnberg P; Baig SM; Hussain MS; Noegel AA Mol Genet Genomics; 2017 Apr; 292(2):365-383. PubMed ID: 28004182 [TBL] [Abstract][Full Text] [Related]
10. A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss. Pagnamenta AT; Murray JE; Yoon G; Sadighi Akha E; Harrison V; Bicknell LS; Ajilogba K; Stewart H; Kini U; Taylor JC; Keays DA; Jackson AP; Knight SJ Am J Med Genet A; 2012 Oct; 158A(10):2577-82. PubMed ID: 22887808 [TBL] [Abstract][Full Text] [Related]
11. Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly. Sabbagh Q; Tharreau M; Cenni C; Sanchez E; Ruiz-Pallares N; Alkar F; Amouroux C; David S; Prodhomme O; Leboucq N; Meunier I; Bessis D; Theron A; Barat-Houari M; Willems M Eur J Med Genet; 2023 May; 66(5):104733. PubMed ID: 36842471 [TBL] [Abstract][Full Text] [Related]
12. Altered inhibition and excitation in neocortical circuits in congenital microcephaly. Zaqout S; Blaesius K; Wu YJ; Ott S; Kraemer N; Becker LL; Rosário M; Rosenmund C; Strauss U; Kaindl AM Neurobiol Dis; 2019 Sep; 129():130-143. PubMed ID: 31102767 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay. Li MH; Arndt K; Das S; Weiss EM; Wu Y; Gwal K; Shekdar KV; Zackai EH Am J Med Genet A; 2015 Jun; 167(6):1414-7. PubMed ID: 25899944 [No Abstract] [Full Text] [Related]
20. 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] [Next] [New Search]