333 related articles for article (PubMed ID: 33522091)
21. Characterization of the GABRB2-Associated Neurodevelopmental Disorders.
El Achkar CM; Harrer M; Smith L; Kelly M; Iqbal S; Maljevic S; Niturad CE; Vissers LELM; Poduri A; Yang E; Lal D; Lerche H; Møller RS; Olson HE;
Ann Neurol; 2021 Mar; 89(3):573-586. PubMed ID: 33325057
[TBL] [Abstract][Full Text] [Related]
22. Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
Meyer R; Begemann M; Demuth S; Kraft F; Dey D; Schüler H; Busse S; Häusler M; Zerres K; Kurth I; Eggermann T; Elbracht M
Clin Genet; 2020 Oct; 98(4):408-412. PubMed ID: 32720325
[TBL] [Abstract][Full Text] [Related]
23. Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
Kharbanda M; Pilz DT; Tomkins S; Chandler K; Saggar A; Fryer A; McKay V; Louro P; Smith JC; Burn J; Kini U; De Burca A; FitzPatrick DR; Kinning E;
Eur J Med Genet; 2017 Feb; 60(2):130-135. PubMed ID: 27915094
[TBL] [Abstract][Full Text] [Related]
24. De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Nabais Sá MJ; Jensik PJ; McGee SR; Parker MJ; Lahiri N; McNeil EP; Kroes HY; Hagerman RJ; Harrison RE; Montgomery T; Splitt M; Palmer EE; Sachdev RK; Mefford HC; Scott AA; Martinez-Agosto JA; Lorenz R; Orenstein N; Berg JN; Amiel J; Heron D; Keren B; Cobben JM; Menke LA; Marco EJ; Graham JM; Pierson TM; Karimiani EG; Maroofian R; Manzini MC; Cauley ES; Colombo R; Odent S; Dubourg C; Phornphutkul C; de Brouwer APM; de Vries BBA; Vulto-vanSilfhout AT
Genet Med; 2019 Sep; 21(9):2059-2069. PubMed ID: 30923367
[TBL] [Abstract][Full Text] [Related]
25. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
Van Bergen NJ; Guo Y; Al-Deri N; Lipatova Z; Stanga D; Zhao S; Murtazina R; Gyurkovska V; Pehlivan D; Mitani T; Gezdirici A; Antony J; Collins F; Willis MJH; Coban Akdemir ZH; Liu P; Punetha J; Hunter JV; Jhangiani SN; Fatih JM; Rosenfeld JA; Posey JE; Gibbs RA; Karaca E; Massey S; Ranasinghe TG; Sleiman P; Troedson C; Lupski JR; Sacher M; Segev N; Hakonarson H; Christodoulou J
Brain; 2020 Jan; 143(1):112-130. PubMed ID: 31794024
[TBL] [Abstract][Full Text] [Related]
26. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
Courcet JB; Faivre L; Malzac P; Masurel-Paulet A; Lopez E; Callier P; Lambert L; Lemesle M; Thevenon J; Gigot N; Duplomb L; Ragon C; Marle N; Mosca-Boidron AL; Huet F; Philippe C; Moncla A; Thauvin-Robinet C
J Med Genet; 2012 Dec; 49(12):731-6. PubMed ID: 23099646
[TBL] [Abstract][Full Text] [Related]
27. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC; Pang K; Ciolfi A; Levy MA; Hernández-García A; Pedace L; Pantaleoni F; Liu Z; de Boer E; Jackson A; Bruselles A; McConkey H; Stellacci E; Lo Cicero S; Motta M; Carrozzo R; Dentici ML; McWalter K; Desai M; Monaghan KG; Telegrafi A; Philippe C; Vitobello A; Au M; Grand K; Sanchez-Lara PA; Baez J; Lindstrom K; Kulch P; Sebastian J; Madan-Khetarpal S; Roadhouse C; MacKenzie JJ; Monteleone B; Saunders CJ; Jean Cuevas JK; Cross L; Zhou D; Hartley T; Sawyer SL; Monteiro FP; Secches TV; Kok F; Schultz-Rogers LE; Macke EL; Morava E; Klee EW; Kemppainen J; Iascone M; Selicorni A; Tenconi R; Amor DJ; Pais L; Gallacher L; Turnpenny PD; Stals K; Ellard S; Cabet S; Lesca G; Pascal J; Steindl K; Ravid S; Weiss K; Castle AMR; Carter MT; Kalsner L; de Vries BBA; van Bon BW; Wevers MR; Pfundt R; Stegmann APA; Kerr B; Kingston HM; Chandler KE; Sheehan W; Elias AF; Shinde DN; Towne MC; Robin NH; Goodloe D; Vanderver A; Sherbini O; Bluske K; Hagelstrom RT; Zanus C; Faletra F; Musante L; Kurtz-Nelson EC; Earl RK; Anderlid BM; Morin G; van Slegtenhorst M; Diderich KEM; Brooks AS; Gribnau J; Boers RG; Finestra TR; Carter LB; Rauch A; Gasparini P; Boycott KM; Barakat TS; Graham JM; Faivre L; Banka S; Wang T; Eichler EE; Priolo M; Dallapiccola B; Vissers LELM; Sadikovic B; Scott DA; Holder JL; Tartaglia M
Am J Hum Genet; 2021 Mar; 108(3):502-516. PubMed ID: 33596411
[TBL] [Abstract][Full Text] [Related]
28. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features.
Quintela I; Barros F; Lago-Leston R; Castro-Gago M; Carracedo A; Eiris J
Am J Med Genet A; 2015 Jun; 167(6):1315-22. PubMed ID: 25847113
[TBL] [Abstract][Full Text] [Related]
29. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Zhang J; Gambin T; Yuan B; Szafranski P; Rosenfeld JA; Balwi MA; Alswaid A; Al-Gazali L; Shamsi AMA; Komara M; Ali BR; Roeder E; McAuley L; Roy DS; Manchester DK; Magoulas P; King LE; Hannig V; Bonneau D; Denommé-Pichon AS; Charif M; Besnard T; Bézieau S; Cogné B; Andrieux J; Zhu W; He W; Vetrini F; Ward PA; Cheung SW; Bi W; Eng CM; Lupski JR; Yang Y; Patel A; Lalani SR; Xia F; Stankiewicz P
Hum Genet; 2017 Apr; 136(4):377-386. PubMed ID: 28251352
[TBL] [Abstract][Full Text] [Related]
30. Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay.
Papoulidis I; Paspaliaris V; Papageorgiou E; Siomou E; Dagklis T; Sotiriou S; Thomaidis L; Manolakos E
Cytogenet Genome Res; 2015; 145(1):19-24. PubMed ID: 25925190
[TBL] [Abstract][Full Text] [Related]
31. Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Lévy J; Coussement A; Dupont C; Guimiot F; Baumann C; Viot G; Passemard S; Capri Y; Drunat S; Verloes A; Pipiras E; Benzacken B; Dupont JM; Tabet AC
Am J Med Genet A; 2017 Aug; 173(8):2081-2087. PubMed ID: 28573701
[TBL] [Abstract][Full Text] [Related]
32. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with
Szakszon K; Lourenco CM; Callewaert BL; Geneviève D; Rouxel F; Morin D; Denommé-Pichon AS; Vitobello A; Patterson WG; Louie R; Pinto E Vairo F; Klee E; Kaiwar C; Gavrilova RH; Agre KE; Jacquemont S; Khadijé J; Giltay J; van Gassen K; Merő G; Gerkes E; Van Bon BW; Rinne T; Pfundt R; Brunner HG; Caluseriu O; Grasshoff U; Kehrer M; Haack TB; Khelifa MM; Bergmann AK; Cueto-González AM; Martorell AC; Ramachandrappa S; Sawyer LB; Fasel P; Braun D; Isis A; Superti-Furga A; McNiven V; Chitayat D; Ahmed SA; Brennenstuhl H; Schwaibolf EM; Battisti G; Parmentier B; Stevens SJC
J Med Genet; 2024 Jan; 61(2):132-141. PubMed ID: 37580113
[TBL] [Abstract][Full Text] [Related]
33. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Stephen J; Maddirevula S; Nampoothiri S; Burke JD; Herzog M; Shukla A; Steindl K; Eskin A; Patil SJ; Joset P; Lee H; Garrett LJ; Yokoyama T; Balanda N; Bodine SP; Tolman NJ; Zerfas PM; Zheng A; Ramantani G; Girisha KM; Rivas C; Suresh PV; Elkahloun A; Alsaif HS; Wakil SM; Mahmoud L; Ali R; Prochazkova M; ; Kulkarni AB; Ben-Omran T; Colak D; Morris HD; Rauch A; Martinez-Agosto JA; Nelson SF; Alkuraya FS; Gahl WA; Malicdan MCV
Am J Hum Genet; 2018 Dec; 103(6):948-967. PubMed ID: 30526868
[TBL] [Abstract][Full Text] [Related]
34. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE; Banka S; Ajeawung NF; Molidperee S; Chen GG; Koenig MK; Adejumo RB; Till M; Harbord M; Perrier R; Lemyre E; Boucher RM; Skotko BG; Waxler JL; Thomas MA; Hodge JC; Gecz J; Nicholl J; McGregor L; Linden T; Sisodiya SM; Sanlaville D; Cheung SW; Ernst C; Campeau PM
Genet Med; 2019 May; 21(5):1058-1064. PubMed ID: 30245510
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Schirwani S; Albaba S; Carere DA; Guillen Sacoto MJ; Milan Zamora F; Si Y; Rabin R; Pappas J; Renaud DL; Hauser N; Reid E; Blanchet P; Foulds N; Dixit A; Fisher R; Armstrong R; Isidor B; Cogne B; Schrier Vergano S; Demirdas S; Dykzeul N; Cohen JS; Grand K; Morel D; Slavotinek A; Albassam HF; Naik S; Dean J; Ragge N; Costa C; Tedesco MG; Harrison RE; Bouman A; Palen E; Challman TD; Willemsen MH; Vogt J; Cunniff C; Bergstrom K; Walia JS; Bruel AL; Kini U; Alkuraya FS; Slegesky V; Meeks N; Girotto P; Johnson D; ; Newbury-Ecob R; Ockeloen CW; Prontera P; Lynch SA; Li D; Graham JM; Pierson TM; Balasubramanian M
Am J Med Genet A; 2021 Nov; 185(11):3446-3458. PubMed ID: 34436830
[TBL] [Abstract][Full Text] [Related]
37. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
Gold WA; Sobreira N; Wiame E; Marbaix A; Van Schaftingen E; Franzka P; Riley LG; Worgan L; Hübner CA; Christodoulou J; Adès LC
Am J Med Genet A; 2017 Aug; 173(8):2246-2250. PubMed ID: 28574218
[TBL] [Abstract][Full Text] [Related]
38. [Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay].
Arroyo-Carrera I; de Zaldívar-Tristancho MS; Martín-Fernández R; Hernández-Martín R; López-Lafuente A; Rodríguez-Revenga L
Rev Neurol; 2015 May; 60(10):453-6. PubMed ID: 25952600
[TBL] [Abstract][Full Text] [Related]
39. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Guillen Sacoto MJ; Tchasovnikarova IA; Torti E; Forster C; Andrew EH; Anselm I; Baranano KW; Briere LC; Cohen JS; Craigen WJ; Cytrynbaum C; Ekhilevitch N; Elrick MJ; Fatemi A; Fraser JL; Gallagher RC; Guerin A; Haynes D; High FA; Inglese CN; Kiss C; Koenig MK; Krier J; Lindstrom K; Marble M; Meddaugh H; Moran ES; Morel CF; Mu W; Muller EA; Nance J; Natowicz MR; Numis AL; Ostrem B; Pappas J; Stafstrom CE; Streff H; Sweetser DA; Szybowska M; ; Walker MA; Wang W; Weiss K; Weksberg R; Wheeler PG; Yoon G; Kingston RE; Juusola J
Am J Hum Genet; 2020 Aug; 107(2):352-363. PubMed ID: 32693025
[TBL] [Abstract][Full Text] [Related]
40. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J; Guerrot AM; Morrow MM; Schramm C; Zamora FM; Shanmugham A; Liu S; Zou F; Bilan F; Le Guyader G; Bruel AL; Denommé-Pichon AS; Faivre L; Tran Mau-Them F; Tessarech M; Colin E; El Chehadeh S; Gérard B; Schaefer E; Cogne B; Isidor B; Nizon M; Doummar D; Valence S; Héron D; Keren B; Mignot C; Coutton C; Devillard F; Alaix AS; Amiel J; Colleaux L; Munnich A; Poirier K; Rio M; Rondeau S; Barcia G; Callewaert B; Dheedene A; Kumps C; Vergult S; Menten B; Chung WK; Hernan R; Larson A; Nori K; Stewart S; Wheless J; Kresge C; Pletcher BA; Caumes R; Smol T; Sigaudy S; Coubes C; Helm M; Smith R; Morrison J; Wheeler PG; Kritzer A; Jouret G; Afenjar A; Deleuze JF; Olaso R; Boland A; Poitou C; Frebourg T; Houdayer C; Saugier-Veber P; Nicolas G; Lecoquierre F
Hum Genet; 2022 Jan; 141(1):65-80. PubMed ID: 34748075
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
