246 related articles for article (PubMed ID: 32198973)
1. MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.
Rodríguez-García ME; Cotrina-Vinagre FJ; Gómez-Cano MLÁ; Martínez de Aragón A; Martín-Hernández E; Martínez-Azorín F
Am J Med Genet A; 2020 Jun; 182(6):1483-1490. PubMed ID: 32198973
[TBL] [Abstract][Full Text] [Related]
2. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.
Tripathy R; Leca I; van Dijk T; Weiss J; van Bon BW; Sergaki MC; Gstrein T; Breuss M; Tian G; Bahi-Buisson N; Paciorkowski AR; Pagnamenta AT; Wenninger-Weinzierl A; Martinez-Reza MF; Landler L; Lise S; Taylor JC; Terrone G; Vitiello G; Del Giudice E; Brunetti-Pierri N; D'Amico A; Reymond A; Voisin N; Bernstein JA; Farrelly E; Kini U; Leonard TA; Valence S; Burglen L; Armstrong L; Hiatt SM; Cooper GM; Aldinger KA; Dobyns WB; Mirzaa G; Pierson TM; Baas F; Chelly J; Cowan NJ; Keays DA
Neuron; 2018 Dec; 100(6):1354-1368.e5. PubMed ID: 30449657
[TBL] [Abstract][Full Text] [Related]
3. Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.
Shimojima K; Narita A; Maegaki Y; Saito A; Furukawa T; Yamamoto T
BMC Res Notes; 2014 Jul; 7():465. PubMed ID: 25053001
[TBL] [Abstract][Full Text] [Related]
4. A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus.
Yi S; Tang X; Chen F; Wang L; Chen J; Yang Z; Huang M; Yi S; Huang L; Yang Q; Yang S; Pan P; Qin Z; Luo J
Mol Genet Genomic Med; 2024 Jan; 12(1):e2358. PubMed ID: 38284444
[TBL] [Abstract][Full Text] [Related]
5. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Sajan SA; Fernandez L; Nieh SE; Rider E; Bukshpun P; Wakahiro M; Christian SL; Rivière JB; Sullivan CT; Sudi J; Herriges MJ; Paciorkowski AR; Barkovich AJ; Glessner JT; Millen KJ; Hakonarson H; Dobyns WB; Sherr EH
PLoS Genet; 2013; 9(10):e1003823. PubMed ID: 24098143
[TBL] [Abstract][Full Text] [Related]
6. Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.
Stouffs K; Moortgat S; Vanderhasselt T; Vandervore L; Dica A; Mathot M; Keymolen K; Seneca S; Gheldof A; De Meirleir L; Jansen AC
Eur J Med Genet; 2018 Dec; 61(12):733-737. PubMed ID: 29883675
[TBL] [Abstract][Full Text] [Related]
7. MAST1-related mega-corpus-callosum syndrome with central hypogonadism.
Sloboda N; Renard E; Lambert L; Bonnet C; Leheup B; Todosi C; Schmitt E; Feillet F; Feigerlova E; Piton A; Journeau P; Klein M; Maillard L; Chelly J; Renaud M
Eur J Med Genet; 2023 Nov; 66(11):104853. PubMed ID: 37758169
[TBL] [Abstract][Full Text] [Related]
8. The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation.
Hecher L; Johannsen J; Bierhals T; Buhk JH; Hempel M; Denecke J
Neuropediatrics; 2020 Dec; 51(6):435-439. PubMed ID: 32818970
[TBL] [Abstract][Full Text] [Related]
9. Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly.
Meloche J; Brunet V; Gagnon PA; Lavoie MÈ; Bouchard JB; Nadaf J; Majewski J; Morin C; Laprise C
Mol Genet Genomic Med; 2020 Jan; 8(1):e992. PubMed ID: 31578829
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.
Valenzuela I; Codina M; Fernández-Álvarez P; Mur P; Valle L; Tizzano EF; Cuscó I
Am J Med Genet A; 2020 Nov; 182(11):2742-2745. PubMed ID: 32896090
[TBL] [Abstract][Full Text] [Related]
12. Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation.
Okumura A; Hayashi M; Tsurui H; Yamakawa Y; Abe S; Kudo T; Suzuki R; Shimizu T; Shimojima K; Yamamoto T
Brain Dev; 2013 Mar; 35(3):274-9. PubMed ID: 22633752
[TBL] [Abstract][Full Text] [Related]
13. The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N; Poirier K; Fourniol F; Saillour Y; Valence S; Lebrun N; Hully M; Bianco CF; Boddaert N; Elie C; Lascelles K; Souville I; ; Beldjord C; Chelly J
Brain; 2014 Jun; 137(Pt 6):1676-700. PubMed ID: 24860126
[TBL] [Abstract][Full Text] [Related]
14. Clinical features and neuroimaging (CT and MRI) findings in presumed Zika virus related congenital infection and microcephaly: retrospective case series study.
de Fatima Vasco Aragao M; van der Linden V; Brainer-Lima AM; Coeli RR; Rocha MA; Sobral da Silva P; Durce Costa Gomes de Carvalho M; van der Linden A; Cesario de Holanda A; Valenca MM
BMJ; 2016 Apr; 353():i1901. PubMed ID: 27075009
[TBL] [Abstract][Full Text] [Related]
15. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
Ivanova EL; Mau-Them FT; Riazuddin S; Kahrizi K; Laugel V; Schaefer E; de Saint Martin A; Runge K; Iqbal Z; Spitz MA; Laura M; Drouot N; Gérard B; Deleuze JF; de Brouwer APM; Razzaq A; Dollfus H; Assir MZ; Nitchké P; Hinckelmann MV; Ropers H; Riazuddin S; Najmabadi H; van Bokhoven H; Chelly J
Am J Hum Genet; 2017 Sep; 101(3):428-440. PubMed ID: 28823707
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis.
Vandervore LV; Schot R; Hoogeboom AJM; Lincke C; de Coo IF; Lequin MH; Dremmen M; van Unen LMA; Saris JJ; Jansen AC; van Slegtenhorst MA; Wilke M; Mancini GMS
Eur J Med Genet; 2018 Dec; 61(12):783-789. PubMed ID: 30391508
[TBL] [Abstract][Full Text] [Related]
19. Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies.
Miyamoto S; Kato M; Hiraide T; Shiohama T; Goto T; Hojo A; Ebata A; Suzuki M; Kobayashi K; Chong PF; Kira R; Matsushita HB; Ikeda H; Hoshino K; Matsufuji M; Moriyama N; Furuyama M; Yamamoto T; Nakashima M; Saitsu H
J Hum Genet; 2021 Nov; 66(11):1061-1068. PubMed ID: 33958710
[TBL] [Abstract][Full Text] [Related]
20. Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.
Gafner M; Michelson M; Argilli E; Yosovich K; Sherr EH; Parks KC; England EM; Hady-Cohen R; Leibovitz Z; Lev D; Michaeli-Yosef Y; Lerman-Sagie T; Blumkin L
J Hum Genet; 2022 Feb; 67(2):95-101. PubMed ID: 34400773
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
