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.
234 related articles for article (PubMed ID: 30449657)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. Jeanne M; Demory H; Moutal A; Vuillaume ML; Blesson S; Thépault RA; Marouillat S; Halewa J; Maas SM; Motazacker MM; Mancini GMS; van Slegtenhorst MA; Andreou A; Cox H; Vogt J; Laufman J; Kostandyan N; Babikyan D; Hancarova M; Bendova S; Sedlacek Z; Aldinger KA; Sherr EH; Argilli E; England EM; Audebert-Bellanger S; Bonneau D; Colin E; Denommé-Pichon AS; Gilbert-Dussardier B; Isidor B; Küry S; Odent S; Redon R; Khanna R; Dobyns WB; Bézieau S; Honnorat J; Lohkamp B; Toutain A; Laumonnier F Am J Hum Genet; 2021 May; 108(5):951-961. PubMed ID: 33894126 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. New Pachygyria Syndrome Linked to Actin Regulation Identified: When mutated, CTNNA2 leads to a new form of pachygyria that has a diffuse anterior-posterior gradient with cerebellar hypoplasia, thinning corpus callosum, and absent anterior commissure. Am J Med Genet A; 2018 Nov; 176(11):2234-2235. PubMed ID: 30537274 [No Abstract] [Full Text] [Related]
13. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Marsh AP; Heron D; Edwards TJ; Quartier A; Galea C; Nava C; Rastetter A; Moutard ML; Anderson V; Bitoun P; Bunt J; Faudet A; Garel C; Gillies G; Gobius I; Guegan J; Heide S; Keren B; Lesne F; Lukic V; Mandelstam SA; McGillivray G; McIlroy A; Méneret A; Mignot C; Morcom LR; Odent S; Paolino A; Pope K; Riant F; Robinson GA; Spencer-Smith M; Srour M; Stephenson SE; Tankard R; Trouillard O; Welniarz Q; Wood A; Brice A; Rouleau G; Attié-Bitach T; Delatycki MB; Mandel JL; Amor DJ; Roze E; Piton A; Bahlo M; Billette de Villemeur T; Sherr EH; Leventer RJ; Richards LJ; Lockhart PJ; Depienne C Nat Genet; 2017 Apr; 49(4):511-514. PubMed ID: 28250454 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype. Abdel-Salam GM; Abdel-Hamid MS; El-Khayat HA; Eid OM; Saba S; Farag MK; Saleem SN; Gaber KR Am J Med Genet A; 2015 May; 167A(5):1089-99. PubMed ID: 25755095 [TBL] [Abstract][Full Text] [Related]
17. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Breuss MW; Nguyen T; Srivatsan A; Leca I; Tian G; Fritz T; Hansen AH; Musaev D; McEvoy-Venneri J; James KN; Rosti RO; Scott E; Tan U; Kolodner RD; Cowan NJ; Keays DA; Gleeson JG Hum Mol Genet; 2017 Jan; 26(2):258-269. PubMed ID: 28013290 [TBL] [Abstract][Full Text] [Related]
18. Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy. Cabet S; Putoux A; Buenerd A; Gueneau L; Reymond A; Thia EWH; Lai AHM; Schindewolf EM; Sanlaville D; Lesca G; Guibaud L Prenat Diagn; 2020 Jan; 40(2):276-281. PubMed ID: 31736083 [No Abstract] [Full Text] [Related]
19. 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]
20. A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia. Ciaccio C; Leonardi E; Polli R; Murgia A; D'Arrigo S; Granocchio E; Chiapparini L; Pantaleoni C; Esposito S Neuropediatrics; 2021 Dec; 52(6):484-488. PubMed ID: 33853164 [No Abstract] [Full Text] [Related] [Next] [New Search]