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5. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy. Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154 [TBL] [Abstract][Full Text] [Related]
6. Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. Colin E; Huynh Cong E; Mollet G; Guichet A; Gribouval O; Arrondel C; Boyer O; Daniel L; Gubler MC; Ekinci Z; Tsimaratos M; Chabrol B; Boddaert N; Verloes A; Chevrollier A; Gueguen N; Desquiret-Dumas V; Ferré M; Procaccio V; Richard L; Funalot B; Moncla A; Bonneau D; Antignac C Am J Hum Genet; 2014 Dec; 95(6):637-48. PubMed ID: 25466283 [TBL] [Abstract][Full Text] [Related]
7. Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Hayashi S; Uehara DT; Tanimoto K; Mizuno S; Chinen Y; Fukumura S; Takanashi JI; Osaka H; Okamoto N; Inazawa J PLoS One; 2017; 12(8):e0181791. PubMed ID: 28783747 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Phenotypic and molecular insights into CASK-related disorders in males. Moog U; Bierhals T; Brand K; Bautsch J; Biskup S; Brune T; Denecke J; de Die-Smulders CE; Evers C; Hempel M; Henneke M; Yntema H; Menten B; Pietz J; Pfundt R; Schmidtke J; Steinemann D; Stumpel CT; Van Maldergem L; Kutsche K Orphanet J Rare Dis; 2015 Apr; 10():44. PubMed ID: 25886057 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis. Velasco HM; Ullah E; Martin AM; Hufnagel RB; Prada CE Am J Med Genet A; 2020 Oct; 182(10):2214-2221. PubMed ID: 32783359 [TBL] [Abstract][Full Text] [Related]
13. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. Magen D; Ofir A; Berger L; Goldsher D; Eran A; Katib N; Nijem Y; Vlodavsky E; Tzur S; Behar DM; Fellig Y; Mandel H Hum Genet; 2015 Mar; 134(3):305-14. PubMed ID: 25560765 [TBL] [Abstract][Full Text] [Related]
14. A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. Klar J; Ali Z; Farooq M; Khan K; Wikström J; Iqbal M; Zulfiqar S; Faryal S; Baig SM; Dahl N Eur J Hum Genet; 2017 Jun; 25(7):848-853. PubMed ID: 28488678 [TBL] [Abstract][Full Text] [Related]
15. WDR73-related galloway mowat syndrome with collapsing glomerulopathy. El Younsi M; Kraoua L; Meddeb R; Ferjani M; Trabelsi M; Ouertani I; Maazoul F; Abid N; Gargah T; M'rad R Eur J Med Genet; 2019 Sep; 62(9):103550. PubMed ID: 30315938 [TBL] [Abstract][Full Text] [Related]
16. A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia. Wu S; Jiang C; Li J; Zhang G; Shen Y; Wang J BMC Med Genomics; 2022 Jun; 15(1):127. PubMed ID: 35668446 [TBL] [Abstract][Full Text] [Related]
17. Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Jinks RN; Puffenberger EG; Baple E; Harding B; Crino P; Fogo AB; Wenger O; Xin B; Koehler AE; McGlincy MH; Provencher MM; Smith JD; Tran L; Al Turki S; Chioza BA; Cross H; Harlalka GV; Hurles ME; Maroofian R; Heaps AD; Morton MC; Stempak L; Hildebrandt F; Sadowski CE; Zaritsky J; Campellone K; Morton DH; Wang H; Crosby A; Strauss KA Brain; 2015 Aug; 138(Pt 8):2173-90. PubMed ID: 26070982 [TBL] [Abstract][Full Text] [Related]
18. Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. Al-Rakan MA; Abothnain MD; Alrifai MT; Alfadhel M BMC Ophthalmol; 2018 Jun; 18(1):147. PubMed ID: 29929488 [TBL] [Abstract][Full Text] [Related]
19. Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction. LaConte LEW; Chavan V; Elias AF; Hudson C; Schwanke C; Styren K; Shoof J; Kok F; Srivastava S; Mukherjee K Hum Genet; 2018 Mar; 137(3):231-246. PubMed ID: 29426960 [TBL] [Abstract][Full Text] [Related]
20. Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. Pagnamenta AT; Howard MF; Wisniewski E; Popitsch N; Knight SJ; Keays DA; Quaghebeur G; Cox H; Cox P; Balla T; Taylor JC; Kini U Hum Mol Genet; 2015 Jul; 24(13):3732-41. PubMed ID: 25855803 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]