200 related articles for article (PubMed ID: 28840640)
1. De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
Ejaz R; Lionel AC; Blaser S; Walker S; Scherer SW; Babul-Hirji R; Marshall CR; Stavropoulos DJ; Chitayat D
Am J Med Genet A; 2017 Oct; 173(10):2725-2730. PubMed ID: 28840640
[TBL] [Abstract][Full Text] [Related]
2. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
Cai S; Li J; Wu Y; Jiang Y
J Hum Genet; 2020 Jul; 65(7):601-608. PubMed ID: 32203252
[TBL] [Abstract][Full Text] [Related]
3. Expanding the Phenotype of
Schmidt L; Wain KE; Hajek C; Estrada-Veras JI; Guillen Sacoto MJ; Wentzensen IM; Malhotra A; Clause A; Perry D; Moreno-De-Luca A; Bell M
Mol Syndromol; 2021 Mar; 12(1):33-40. PubMed ID: 33776625
[TBL] [Abstract][Full Text] [Related]
4. Defining the phenotypical spectrum associated with variants in
Brock S; Vanderhasselt T; Vermaning S; Keymolen K; Régal L; Romaniello R; Wieczorek D; Storm TM; Schaeferhoff K; Hehr U; Kuechler A; Krägeloh-Mann I; Haack TB; Kasteleijn E; Schot R; Mancini GMS; Webster R; Mohammad S; Leventer RJ; Mirzaa G; Dobyns WB; Bahi-Buisson N; Meuwissen M; Jansen AC; Stouffs K
J Med Genet; 2021 Jan; 58(1):33-40. PubMed ID: 32571897
[TBL] [Abstract][Full Text] [Related]
5. De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
Rodan LH; El Achkar CM; Berry GT; Poduri A; Prabhu SP; Yang E; Anselm I
J Child Neurol; 2017 Jan; 32(1):127-131. PubMed ID: 27770045
[TBL] [Abstract][Full Text] [Related]
6. A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation.
Okubo Y; Endo W; Inui T; Suzuki-Muromoto S; Miyabayashi T; Togashi N; Sato R; Arai-Ichinoi N; Kikuchi A; Kure S; Haginoya K
Brain Dev; 2018 Apr; 40(4):334-338. PubMed ID: 29254829
[TBL] [Abstract][Full Text] [Related]
7. Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
Ekhilevitch N; Kurolap A; Oz-Levi D; Mory A; Hershkovitz T; Ast G; Mandel H; Baris HN
Clin Genet; 2016 Jul; 90(1):84-9. PubMed ID: 26661508
[TBL] [Abstract][Full Text] [Related]
8. Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.
Grønborg S; Kjaergaard S; Hove H; Larsen VA; Kirchhoff M
Am J Med Genet A; 2015 Nov; 167A(11):2731-6. PubMed ID: 26109418
[TBL] [Abstract][Full Text] [Related]
9. Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
Weber M; Jaber D; Encha-Razavi F; Julien E; Grevoul-Fesquet J; Steffann J; Melki J; Martinovic J
Am J Med Genet A; 2022 Aug; 188(8):2331-2338. PubMed ID: 35686685
[TBL] [Abstract][Full Text] [Related]
10. In-frame de novo mutation in
Koboldt DC; Kastury RD; Waldrop MA; Kelly BJ; Mosher TM; McLaughlin H; Corsmeier D; Slaughter JL; Flanigan KM; McBride KL; Mehta L; Wilson RK; White P
Cold Spring Harb Mol Case Stud; 2018 Oct; 4(5):. PubMed ID: 30054298
[TBL] [Abstract][Full Text] [Related]
11. TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
Kariminejad A; Dahl-Halvarsson M; Ravenscroft G; Afroozan F; Keshavarz E; Goullée H; Davis MR; Faraji Zonooz M; Najmabadi H; Laing NG; Tajsharghi H
Brain; 2017 Nov; 140(11):2851-2859. PubMed ID: 29053766
[TBL] [Abstract][Full Text] [Related]
12. Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.
Ravenscroft G; Di Donato N; Hahn G; Davis MR; Craven PD; Poke G; Neas KR; Neuhann TM; Dobyns WB; Laing NG
Neuromuscul Disord; 2016 Nov; 26(11):744-748. PubMed ID: 27751653
[TBL] [Abstract][Full Text] [Related]
13. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Cushion TD; Paciorkowski AR; Pilz DT; Mullins JG; Seltzer LE; Marion RW; Tuttle E; Ghoneim D; Christian SL; Chung SK; Rees MI; Dobyns WB
Am J Hum Genet; 2014 Apr; 94(4):634-41. PubMed ID: 24702957
[TBL] [Abstract][Full Text] [Related]
14. Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality.
Kawano O; Saito T; Sumitomo N; Takeshita E; Shimizu-Motohashi Y; Nakagawa E; Mizuma K; Tanifuji S; Itai T; Miyatake S; Matsumoto N; Takahashi Y; Mizusawa H; Sasaki M
Brain Dev; 2023 Apr; 45(4):231-236. PubMed ID: 36631315
[TBL] [Abstract][Full Text] [Related]
15. Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Frints SGM; Hennig F; Colombo R; Jacquemont S; Terhal P; Zimmerman HH; Hunt D; Mendelsohn BA; Kordaß U; Webster R; Sinnema M; Abdul-Rahman O; Suckow V; Fernández-Jaén A; van Roozendaal K; Stevens SJC; Macville MVE; Al-Nasiry S; van Gassen K; Utzig N; Koudijs SM; McGregor L; Maas SM; Baralle D; Dixit A; Wieacker P; Lee M; Lee AS; Engle EC; Houge G; Gradek GA; Douglas AGL; Longman C; Joss S; Velasco D; Hennekam RC; Hirata H; Kalscheuer VM
Hum Mutat; 2019 Dec; 40(12):2270-2285. PubMed ID: 31206972
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Liang L; Li X; Moutton S; Schrier Vergano SA; Cogné B; Saint-Martin A; Hurst ACE; Hu Y; Bodamer O; Thevenon J; Hung CY; Isidor B; Gerard B; Rega A; Nambot S; Lehalle D; Duffourd Y; Thauvin-Robinet C; Faivre L; Bézieau S; Dure LS; Helbling DC; Bick D; Xu C; Chen Q; Mancini GMS; Vitobello A; Wang QK
Hum Mol Genet; 2019 Sep; 28(17):2937-2951. PubMed ID: 31152168
[TBL] [Abstract][Full Text] [Related]
18. A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.
Vogt J; Al-Saedi A; Willis T; Male A; McKie A; Kiely N; Maher ER
Clin Genet; 2020 Jun; 97(6):908-914. PubMed ID: 32092148
[TBL] [Abstract][Full Text] [Related]
19. The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M; Hüffmeier U; Trollmann R; Hehr U; Uebe S; Ekici AB; Kraus C; Krumbiegel M; Reis A; Thiel CT; Popp B
Orphanet J Rare Dis; 2019 Feb; 14(1):38. PubMed ID: 30744660
[TBL] [Abstract][Full Text] [Related]
20. A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.
Gonzalez-Mantilla AJ; Moreno-De-Luca A; Ledbetter DH; Martin CL
JAMA Psychiatry; 2016 Mar; 73(3):275-83. PubMed ID: 26817790
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
