247 related articles for article (PubMed ID: 35769015)
1. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Di Donato N; Guerrini R; Billington CJ; Barkovich AJ; Dinkel P; Freri E; Heide M; Gershon ES; Gertler TS; Hopkin RJ; Jacob S; Keedy SK; Kooshavar D; Lockhart PJ; Lohmann DR; Mahmoud IG; Parrini E; Schrock E; Severi G; Timms AE; Webster RI; Willis MJH; Zaki MS; Gleeson JG; Leventer RJ; Dobyns WB
Brain; 2022 Sep; 145(9):3274-3287. PubMed ID: 35769015
[TBL] [Abstract][Full Text] [Related]
2. Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep.
Suárez-Vega A; Gutiérrez-Gil B; Cuchillo-Ibáñez I; Sáez-Valero J; Pérez V; García-Gámez E; Benavides J; Arranz JJ
PLoS One; 2013; 8(11):e81072. PubMed ID: 24260534
[TBL] [Abstract][Full Text] [Related]
3. RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.
Valence S; Garel C; Barth M; Toutain A; Paris C; Amsallem D; Barthez MA; Mayer M; Rodriguez D; Burglen L
Clin Genet; 2016 Dec; 90(6):545-549. PubMed ID: 27000652
[TBL] [Abstract][Full Text] [Related]
4. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
Hong SE; Shugart YY; Huang DT; Shahwan SA; Grant PE; Hourihane JO; Martin ND; Walsh CA
Nat Genet; 2000 Sep; 26(1):93-6. PubMed ID: 10973257
[TBL] [Abstract][Full Text] [Related]
5. Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts.
Abumansour IS; Wrogemann J; Chudley AE; Chodirker BN; Salman MS
J Child Neurol; 2014 Jun; 29(6):860-4. PubMed ID: 23625088
[TBL] [Abstract][Full Text] [Related]
6. The role of RELN in lissencephaly and neuropsychiatric disease.
Chang BS; Duzcan F; Kim S; Cinbis M; Aggarwal A; Apse KA; Ozdel O; Atmaca M; Zencir S; Bagci H; Walsh CA
Am J Med Genet B Neuropsychiatr Genet; 2007 Jan; 144B(1):58-63. PubMed ID: 16958033
[TBL] [Abstract][Full Text] [Related]
7. Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
Dazzo E; Fanciulli M; Serioli E; Minervini G; Pulitano P; Binelli S; Di Bonaventura C; Luisi C; Pasini E; Striano S; Striano P; Coppola G; Chiavegato A; Radovic S; Spadotto A; Uzzau S; La Neve A; Giallonardo AT; Mecarelli O; Tosatto SC; Ottman R; Michelucci R; Nobile C
Am J Hum Genet; 2015 Jun; 96(6):992-1000. PubMed ID: 26046367
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Biallelic
Smits DJ; Schot R; Wilke M; van Slegtenhorst M; de Wit MCY; Dremmen MHG; Dobyns WB; Barkovich AJ; Mancini GMS
Neurol Genet; 2021 Apr; 7(2):e558. PubMed ID: 33928188
[TBL] [Abstract][Full Text] [Related]
10. Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation.
Igreja L; Menezes C; Pinto PS; Freixo JP; Chorão R
Pediatr Neurol; 2023 Dec; 149():137-140. PubMed ID: 37879138
[TBL] [Abstract][Full Text] [Related]
11. The
Lossi L; Castagna C; Granato A; Merighi A
J Clin Med; 2019 Dec; 8(12):. PubMed ID: 31805691
[TBL] [Abstract][Full Text] [Related]
12. The chromatin remodeling factor CHD7 controls cerebellar development by regulating reelin expression.
Whittaker DE; Riegman KL; Kasah S; Mohan C; Yu T; Pijuan-Sala B; Hebaishi H; Caruso A; Marques AC; Michetti C; Smachetti ME; Shah A; Sabbioni M; Kulhanci O; Tee WW; Reinberg D; Scattoni ML; Volk H; McGonnell I; Wardle FC; Fernandes C; Basson MA
J Clin Invest; 2017 Mar; 127(3):874-887. PubMed ID: 28165338
[TBL] [Abstract][Full Text] [Related]
13. [Two cases with lissencephaly associated cerebellar hypoplasia related to RELN variation].
Gao SS; Bai ZX; Kong XD
Zhonghua Er Ke Za Zhi; 2020 Mar; 58(3):238-240. PubMed ID: 32135599
[TBL] [Abstract][Full Text] [Related]
14. Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
Rabin R; Hirsch Y; Johansson MM; Ekstein J; Ekstein A; Pappas J
Am J Med Genet A; 2021 May; 185(5):1589-1597. PubMed ID: 33682303
[TBL] [Abstract][Full Text] [Related]
15. C-Terminal Region Truncation of RELN Disrupts an Interaction with VLDLR, Causing Abnormal Development of the Cerebral Cortex and Hippocampus.
Ha S; Tripathi PP; Mihalas AB; Hevner RF; Beier DR
J Neurosci; 2017 Jan; 37(4):960-971. PubMed ID: 28123028
[TBL] [Abstract][Full Text] [Related]
16. RELN Mutations in Autism Spectrum Disorder.
Lammert DB; Howell BW
Front Cell Neurosci; 2016; 10():84. PubMed ID: 27064498
[TBL] [Abstract][Full Text] [Related]
17. A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.
Abdel-Salam GMH; Girgis M; Eid MM; Sayed ISM; Abdel-Hamid MS
J Hum Genet; 2022 Nov; 67(11):669-673. PubMed ID: 35896821
[TBL] [Abstract][Full Text] [Related]
18. Location and type of mutation in the LIS1 gene do not predict phenotypic severity.
Uyanik G; Morris-Rosendahl DJ; Stiegler J; Klapecki J; Gross C; Berman Y; Martin P; Dey L; Spranger S; Korenke GC; Schreyer I; Hertzberg C; Neumann TE; Burkart P; Spaich C; Meng M; Holthausen H; Adès L; Seidel J; Mangold E; Buyse G; Meinecke P; Schara U; Zeschnigk C; Muller D; Helland G; Schulze B; Wright ML; Kortge-Jung S; Hehr A; Bogdahn U; Schuierer G; Kohlhase J; Aigner L; Wolff G; Hehr U; Winkler J
Neurology; 2007 Jul; 69(5):442-7. PubMed ID: 17664403
[TBL] [Abstract][Full Text] [Related]
19. Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Barrie ES; Overwater E; van Haelst MM; Motazacker MM; Truxal KV; Crist E; Mostafavi R; Pivnick EK; Choudhri AF; Narumanchi T; Castelluccio V; Walsh LE; Garganta C; Gastier-Foster JM
Am J Med Genet A; 2020 May; 182(5):1201-1208. PubMed ID: 32100459
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
