104 related articles for article (PubMed ID: 27668284)
1. Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.
Steinrücke S; Lohmann K; Domingo A; Rolfs A; Bäumer T; Spiegler J; Hartmann C; Münchau A
Neurol Genet; 2016 Oct; 2(5):e106. PubMed ID: 27668284
[TBL] [Abstract][Full Text] [Related]
2. Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
Petrovski S; Küry S; Myers CT; Anyane-Yeboa K; Cogné B; Bialer M; Xia F; Hemati P; Riviello J; Mehaffey M; Besnard T; Becraft E; Wadley A; Politi AR; Colombo S; Zhu X; Ren Z; Andrews I; Dudding-Byth T; Schneider AL; Wallace G; ; Rosen ABI; Schelley S; Enns GM; Corre P; Dalton J; Mercier S; Latypova X; Schmitt S; Guzman E; Moore C; Bier L; Heinzen EL; Karachunski P; Shur N; Grebe T; Basinger A; Nguyen JM; Bézieau S; Wierenga K; Bernstein JA; Scheffer IE; Rosenfeld JA; Mefford HC; Isidor B; Goldstein DB
Am J Hum Genet; 2016 May; 98(5):1001-1010. PubMed ID: 27108799
[TBL] [Abstract][Full Text] [Related]
3. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Lohmann K; Masuho I; Patil DN; Baumann H; Hebert E; Steinrücke S; Trujillano D; Skamangas NK; Dobricic V; Hüning I; Gillessen-Kaesbach G; Westenberger A; Savic-Pavicevic D; Münchau A; Oprea G; Klein C; Rolfs A; Martemyanov KA
Hum Mol Genet; 2017 Mar; 26(6):1078-1086. PubMed ID: 28087732
[TBL] [Abstract][Full Text] [Related]
4. Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review.
Szczałuba K; Biernacka A; Szymańska K; Gasperowicz P; Kosińska J; Rydzanicz M; Płoski R
Eur J Med Genet; 2018 Mar; 61(3):157-160. PubMed ID: 29174093
[TBL] [Abstract][Full Text] [Related]
5. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.
Hemati P; Revah-Politi A; Bassan H; Petrovski S; Bilancia CG; Ramsey K; Griffin NG; Bier L; Cho MT; Rosello M; Lynch SA; Colombo S; Weber A; Haug M; Heinzen EL; Sands TT; Narayanan V; Primiano M; Aggarwal VS; Millan F; Sattler-Holtrop SG; Caro-Llopis A; Pillar N; Baker J; Freedman R; Kroes HY; Sacharow S; Stong N; Lapunzina P; Schneider MC; Mendelsohn NJ; Singleton A; Loik Ramey V; Wou K; Kuzminsky A; Monfort S; Weiss M; Doyle S; Iglesias A; Martinez F; Mckenzie F; Orellana C; van Gassen KLI; Palomares M; Bazak L; Lee A; Bircher A; Basel-Vanagaite L; Hafström M; Houge G; ; ; Goldstein DB; Anyane-Yeboa K
Am J Med Genet A; 2018 Nov; 176(11):2259-2275. PubMed ID: 30194818
[TBL] [Abstract][Full Text] [Related]
6. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
Baasch AL; Hüning I; Gilissen C; Klepper J; Veltman JA; Gillessen-Kaesbach G; Hoischen A; Lohmann K
Epilepsia; 2014 Apr; 55(4):e25-9. PubMed ID: 24579881
[TBL] [Abstract][Full Text] [Related]
7. Case Report: A Novel
Da Silva JD; Costa MD; Almeida B; Lopes F; Maciel P; Teixeira-Castro A
Front Neurol; 2021; 12():735549. PubMed ID: 34646230
[TBL] [Abstract][Full Text] [Related]
8. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
Okur V; Cho MT; Henderson L; Retterer K; Schneider M; Sattler S; Niyazov D; Azage M; Smith S; Picker J; Lincoln S; Tarnopolsky M; Brady L; Bjornsson HT; Applegate C; Dameron A; Willaert R; Baskin B; Juusola J; Chung WK
Hum Genet; 2016 Jul; 135(7):699-705. PubMed ID: 27048600
[TBL] [Abstract][Full Text] [Related]
9. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
Mol Autism; 2019; 10():35. PubMed ID: 31649809
[TBL] [Abstract][Full Text] [Related]
10. GNB1 Encephalopathy: Clinical Case Report and Literature Review.
Nasvytis M; Čiauškaitė J; Jurkevičienė G
Medicina (Kaunas); 2024 Apr; 60(4):. PubMed ID: 38674235
[TBL] [Abstract][Full Text] [Related]
11. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
Shang L; Henderson LB; Cho MT; Petrey DS; Fong CT; Haude KM; Shur N; Lundberg J; Hauser N; Carmichael J; Innis J; Schuette J; Wu YW; Asaikar S; Pearson M; Folk L; Retterer K; Monaghan KG; Chung WK
Neurogenetics; 2016 Jan; 17(1):43-9. PubMed ID: 26576547
[TBL] [Abstract][Full Text] [Related]
12. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
Pinto AM; Bianciardi L; Mencarelli MA; Imperatore V; Di Marco C; Furini S; Suppiej A; Salviati L; Tenconi R; Ariani F; Mari F; Renieri A
Brain Dev; 2016 Jun; 38(6):590-6. PubMed ID: 26754451
[TBL] [Abstract][Full Text] [Related]
13. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
Sollis E; Graham SA; Vino A; Froehlich H; Vreeburg M; Dimitropoulou D; Gilissen C; Pfundt R; Rappold GA; Brunner HG; Deriziotis P; Fisher SE
Hum Mol Genet; 2016 Feb; 25(3):546-57. PubMed ID: 26647308
[TBL] [Abstract][Full Text] [Related]
14. De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.
Fukai R; Saitsu H; Okamoto N; Sakai Y; Fattal-Valevski A; Masaaki S; Kitai Y; Torio M; Kojima-Ishii K; Ihara K; Chernuha V; Nakashima M; Miyatake S; Tanaka F; Miyake N; Matsumoto N
J Hum Genet; 2016 May; 61(5):451-5. PubMed ID: 26763878
[TBL] [Abstract][Full Text] [Related]
15. De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout S; Jansen S; Haesen D; van Belle S; de Munnik SA; Bongers EMHF; Schieving JH; Marcelis C; Amiel J; Rio M; Mclaughlin H; Ladda R; Sell S; Kriek M; Peeters-Scholte CMPCD; Terhal PA; van Gassen KL; Verbeek N; Henry S; Scott Schwoerer J; Malik S; Revencu N; Ferreira CR; Macnamara E; Braakman HMH; Brimble E; Ruzhnikov MRZ; Wagner M; Harrer P; Wieczorek D; Kuechler A; Tziperman B; Barel O; de Vries BBA; Gordon CT; Janssens V; Vissers LELM
Am J Hum Genet; 2019 Jan; 104(1):139-156. PubMed ID: 30595372
[TBL] [Abstract][Full Text] [Related]
16. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Rosewich H; Thiele H; Ohlenbusch A; Maschke U; Altmüller J; Frommolt P; Zirn B; Ebinger F; Siemes H; Nürnberg P; Brockmann K; Gärtner J
Lancet Neurol; 2012 Sep; 11(9):764-73. PubMed ID: 22850527
[TBL] [Abstract][Full Text] [Related]
17. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
Schäfgen J; Cremer K; Becker J; Wieland T; Zink AM; Kim S; Windheuser IC; Kreiß M; Aretz S; Strom TM; Wieczorek D; Engels H
Eur J Hum Genet; 2016 Dec; 24(12):1739-1745. PubMed ID: 27436265
[TBL] [Abstract][Full Text] [Related]
18. Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.
Weyhrauch DL; Ye D; Boczek NJ; Tester DJ; Gavrilova RH; Patterson MC; Wieben ED; Ackerman MJ
Pediatr Neurol; 2016 Feb; 55():46-51. PubMed ID: 26739101
[TBL] [Abstract][Full Text] [Related]
19. A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
Moskowitz AM; Belnap N; Siniard AL; Szelinger S; Claasen AM; Richholt RF; De Both M; Corneveaux JJ; Balak C; Piras IS; Russell M; Courtright AL; Rangasamy S; Ramsey K; Craig DW; Narayanan V; Huentelman MJ; Schrauwen I
Cold Spring Harb Mol Case Stud; 2016 Sep; 2(5):a000851. PubMed ID: 27626064
[TBL] [Abstract][Full Text] [Related]
20. De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.
Fukai R; Saitsu H; Tsurusaki Y; Sakai Y; Haginoya K; Takahashi K; Hubshman MW; Okamoto N; Nakashima M; Tanaka F; Miyake N; Matsumoto N
J Hum Genet; 2016 May; 61(5):381-7. PubMed ID: 26818738
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]