270 related articles for article (PubMed ID: 31698099)
1. Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
Fukuda T; Hiraide T; Yamoto K; Nakashima M; Kawai T; Yanagi K; Ogata T; Saitsu H
Eur J Med Genet; 2020 Apr; 63(4):103804. PubMed ID: 31698099
[TBL] [Abstract][Full Text] [Related]
2. Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association.
Lansdon LA; Fleming EA; Viso FD; Sullivan BR; Saunders CJ
Eur J Med Genet; 2021 Jul; 64(7):104243. PubMed ID: 33971351
[TBL] [Abstract][Full Text] [Related]
3. Recurrent
Tan NB; Pagnamenta AT; Ferla MP; Gadian J; Chung BH; Chan MC; Fung JL; Cook E; Guter S; Boschann F; Heinen A; Schallner J; Mignot C; Keren B; Whalen S; Sarret C; Mittag D; Demmer L; Stapleton R; Saida K; Matsumoto N; Miyake N; Sheffer R; Mor-Shaked H; Barnett CP; Byrne AB; Scott HS; Kraus A; Cappuccio G; Brunetti-Pierri N; Iorio R; Di Dato F; Pais LS; Yeung A; Tan TY; Taylor JC; Christodoulou J; White SM
J Med Genet; 2022 May; 59(5):511-516. PubMed ID: 34183358
[TBL] [Abstract][Full Text] [Related]
4. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
[TBL] [Abstract][Full Text] [Related]
5. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C; D'Aco K; Araujo GC; Shannon N; ; Vernon H; Rahrig A; Monaghan KG; Niu Z; Vitazka P; Dodd J; Tang S; Manwaring L; Martir-Negron A; Schnur RE; Juusola J; Schroeder A; Pan V; Helbig KL; Friedman B; Shinawi M
J Med Genet; 2015 Nov; 52(11):754-61. PubMed ID: 26264232
[TBL] [Abstract][Full Text] [Related]
6. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Machol K; Rousseau J; Ehresmann S; Garcia T; Nguyen TTM; Spillmann RC; Sullivan JA; Shashi V; Jiang YH; Stong N; Fiala E; Willing M; Pfundt R; Kleefstra T; Cho MT; McLaughlin H; Rosello Piera M; Orellana C; Martínez F; Caro-Llopis A; Monfort S; Roscioli T; Nixon CY; Buckley MF; Turner A; Jones WD; van Hasselt PM; Hofstede FC; van Gassen KLI; Brooks AS; van Slegtenhorst MA; Lachlan K; Sebastian J; Madan-Khetarpal S; Sonal D; Sakkubai N; Thevenon J; Faivre L; Maurel A; Petrovski S; Krantz ID; Tarpinian JM; Rosenfeld JA; Lee BH; ; Campeau PM
Am J Hum Genet; 2019 Jan; 104(1):164-178. PubMed ID: 30580808
[TBL] [Abstract][Full Text] [Related]
7. De novo
Webster E; Cho MT; Alexander N; Desai S; Naidu S; Bekheirnia MR; Lewis A; Retterer K; Juusola J; Chung WK
Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001172. PubMed ID: 27900362
[TBL] [Abstract][Full Text] [Related]
8. A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
Lippa NC; Barua S; Aggarwal V; Pereira E; Bain JM
BMC Neurol; 2021 Sep; 21(1):358. PubMed ID: 34530748
[TBL] [Abstract][Full Text] [Related]
9. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Muir AM; Gardner JF; van Jaarsveld RH; de Lange IM; van der Smagt JJ; Wilson GN; Dubbs H; Goldberg EM; Zitano L; Bupp C; Martinez J; Srour M; Accogli A; Alhakeem A; Meltzer M; Gropman A; Brewer C; Caswell RC; Montgomery T; McKenna C; McKee S; Powell C; Vasudevan PC; Brady AF; Joss S; Tysoe C; Noh G; Tarnopolsky M; Brady L; Zafar M; Schrier Vergano SA; Murray B; Sawyer L; Hainline BE; Sapp K; DeMarzo D; Huismann DJ; Wentzensen IM; Schnur RE; Monaghan KG; Juusola J; Rhodes L; Dobyns WB; Lecoquierre F; Goldenberg A; Polster T; Axer-Schaefer S; Platzer K; Klöckner C; Hoffman TL; MacArthur DG; O'Leary MC; VanNoy GE; England E; Varghese VC; Mefford HC
Genet Med; 2021 May; 23(5):881-887. PubMed ID: 33473207
[TBL] [Abstract][Full Text] [Related]
10. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
Brugger M; Brunet T; Wagner M; Orec LE; Schwaibold EMC; Boy N
Gene; 2021 Feb; 768():145260. PubMed ID: 33164824
[TBL] [Abstract][Full Text] [Related]
11. Clinical and genetic characterization of individuals with predicted deleterious
Craddock KE; Okur V; Wilson A; Gerkes EH; Ramsey K; Heeley JM; Juusola J; Vitobello A; Dupeyron MB; Faivre L; Chung WK
Cold Spring Harb Mol Case Stud; 2019 Aug; 5(4):. PubMed ID: 31167805
[TBL] [Abstract][Full Text] [Related]
12. De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
Martin R; Splitt M; Genevieve D; Aten E; Collins A; de Bie CI; Faivre L; Foulds N; Giltay J; Ibitoye R; Joss S; Kennedy J; Kerr B; Kivuva E; Koopmans M; Newbury-Ecob R; Jean-Marçais N; Peeters EAJ; Smithson S; Tomkins S; Tranmauthem F; Piton A; van Haeringen A
Eur J Hum Genet; 2019 Nov; 27(11):1677-1682. PubMed ID: 31201375
[TBL] [Abstract][Full Text] [Related]
13. A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female.
Yi Z; Song Z; Li F; Yang C; Xue J; Li L; Zhang M; Zhang Y
Int J Dev Neurosci; 2022 May; 82(3):271-276. PubMed ID: 35080253
[TBL] [Abstract][Full Text] [Related]
14. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
[TBL] [Abstract][Full Text] [Related]
15. De novo variants in
Tanaka AJ; Cho MT; Willaert R; Retterer K; Zarate YA; Bosanko K; Stefans V; Oishi K; Williamson A; Wilson GN; Basinger A; Barbaro-Dieber T; Ortega L; Sorrentino S; Gabriel MK; Anderson IJ; Sacoto MJG; Schnur RE; Chung WK
Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 29162653
[TBL] [Abstract][Full Text] [Related]
16. Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
Hiraide T; Tanaka T; Masunaga Y; Ohkubo Y; Nakashima M; Fukuda T; Ogata T; Saitsu H
J Hum Genet; 2021 Dec; 66(12):1185-1187. PubMed ID: 34112922
[TBL] [Abstract][Full Text] [Related]
17. A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Beck DB; Cho MT; Millan F; Yates C; Hannibal M; O'Connor B; Shinawi M; Connolly AM; Waggoner D; Halbach S; Angle B; Sanders V; Shen Y; Retterer K; Begtrup A; Bai R; Chung WK
Neurogenetics; 2016 Jul; 17(3):173-8. PubMed ID: 27094857
[TBL] [Abstract][Full Text] [Related]
18. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
Steinfeld H; Cho MT; Retterer K; Person R; Schaefer GB; Danylchuk N; Malik S; Wechsler SB; Wheeler PG; van Gassen KL; Terhal PA; Verhoeven VJ; van Slegtenhorst MA; Monaghan KG; Henderson LB; Chung WK
Neurogenetics; 2016 Jul; 17(3):159-64. PubMed ID: 27003583
[TBL] [Abstract][Full Text] [Related]
19. Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
Thiffault I; Zuccarelli B; Welsh H; Yuan X; Farrow E; Zellmer L; Miller N; Soden S; Abdelmoity A; Brodsky RA; Saunders C
BMC Med Genet; 2017 Nov; 18(1):124. PubMed ID: 29096607
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Lines MA; Goldenberg P; Wong A; Srivastava S; Bayat A; Hove H; Karstensen HG; Anyane-Yeboa K; Liao J; Jiang N; May A; Guzman E; Morleo M; D'Arrigo S; Ciaccio C; Pantaleoni C; Castello R; ; McKee S; Ong J; Zibdeh-Lough H; Tran-Mau-Them F; Gerasimenko A; Heron D; Keren B; Margot H; de Sainte Agathe JM; Burglen L; Voets T; Vriens J; Innes AM; Dyment DA
Am J Med Genet A; 2022 Jun; 188(6):1667-1675. PubMed ID: 35146895
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
