212 related articles for article (PubMed ID: 32720325)
1. 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]
2. Co-Occurring Heterozygous
Priolo M; Radio FC; Pizzi S; Pintomalli L; Pantaleoni F; Mancini C; Cordeddu V; Africa E; Mammì C; Dallapiccola B; Tartaglia M
Genes (Basel); 2021 Jun; 12(7):. PubMed ID: 34208845
[No Abstract] [Full Text] [Related]
3. Pathogenic variants in
Granadillo JL; P A Stegmann A; Guo H; Xia K; Angle B; Bontempo K; Ranells JD; Newkirk P; Costin C; Viront J; Stumpel CT; Sinnema M; Panis B; Pfundt R; Krapels IPC; Klaassens M; Nicolai J; Li J; Jiang Y; Marco E; Canton A; Latronico AC; Montenegro L; Leheup B; Bonnet C; M Amudhavalli S; Lawson CE; McWalter K; Telegrafi A; Pearson R; Kvarnung M; Wang X; Bi W; Rosenfeld JA; Shinawi M
J Med Genet; 2020 Oct; 57(10):717-724. PubMed ID: 32152250
[TBL] [Abstract][Full Text] [Related]
4. Novel In-Frame Deletion
Lee CG; Kim HJ; Seol CA; Ki CS
Neurol Genet; 2024 Feb; 10(1):e200116. PubMed ID: 38179413
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).
Assia Batzir N; Posey JE; Song X; Akdemir ZC; Rosenfeld JA; Brown CW; Chen E; Holtrop SG; Mizerik E; Nieto Moreno M; Payne K; Raas-Rothschild A; Scott R; Vernon HJ; Zadeh N; ; Lupski JR; Sutton VR
Am J Med Genet A; 2020 Jan; 182(1):38-52. PubMed ID: 31782611
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations.
Donoghue T; Garrity L; Ziolkowski A; McPhillips M; Buckman M; Goel H
Am J Med Genet A; 2020 Jul; 182(7):1801-1806. PubMed ID: 32424948
[TBL] [Abstract][Full Text] [Related]
11. Clinical features of CNOT3-associated neurodevelopmental disorder in three Chinese patients.
Zhao P; Meng Q; Wan C; Lei T; Zhang L; Zhang X; Tan L; Zhu H; He X
Neurogenetics; 2023 Apr; 24(2):129-136. PubMed ID: 36802310
[TBL] [Abstract][Full Text] [Related]
12. Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Hiatt SM; Thompson ML; Prokop JW; Lawlor JMJ; Gray DE; Bebin EM; Rinne T; Kempers M; Pfundt R; van Bon BW; Mignot C; Nava C; Depienne C; Kalsner L; Rauch A; Joset P; Bachmann-Gagescu R; Wentzensen IM; McWalter K; Cooper GM
Am J Hum Genet; 2019 Apr; 104(4):701-708. PubMed ID: 30879638
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE; Hurst ACE; Bowling KM; Cristian I; Haynes D; Adstamongkonkul D; Schnappauf O; Beck DB; Brewer C; Parikh AS; Shinde DN; Donaldson A; Brautbar A; Koene S; van Haeringen A; Piton A; Capri Y; Furlan M; Gardella E; Møller RS; van de Beek I; Zuurbier L; Lakeman P; Bayat A; Martinez J; Signer R; Torring PM; Engelund MB; Gripp KW; Amlie-Wolf L; Henderson LB; Midro AT; Tarasów E; Stasiewicz-Jarocka B; Moskal-Jasinska D; Vos P; Boschann F; Stoltenburg C; Puk O; Mero IL; Lossius K; Mignot C; Keren B; Acosta Guio JC; Briceño I; Gomez A; Yang Y; Stankiewicz P
Am J Med Genet A; 2021 May; 185(5):1366-1378. PubMed ID: 33522091
[TBL] [Abstract][Full Text] [Related]
15. Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.
Zhu W; Li J; Chen S; Zhang J; Vetrini F; Braxton A; Eng CM; Yang Y; Xia F; Keller KL; Okinaka-Hu L; Lee C; Holder JL; Bi W
Am J Med Genet A; 2018 Apr; 176(4):973-979. PubMed ID: 29423971
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the
Kutkowska-Kaźmierczak A; Boczar M; Kalka E; Castañeda J; Klapecki J; Pietrzyk A; Barczyk A; Malinowska O; Landowska A; Gambin T; Kowalczyk K; Wiśniowiecka-Kowalnik B; Smyk M; Dawidziuk M; Niepokój K; Paczkowska M; Szyld P; Lipska-Ziętkiewicz B; Szczałuba K; Kostyk E; Runge A; Rutkowska K; Płoski R; Nowakowska B; Bal J; Obersztyn E; Gos M
Genes (Basel); 2021 Aug; 12(8):. PubMed ID: 34440431
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Whole Exome Sequencing Reveals a Novel
Palumbo P; Di Muro E; Accadia M; Benvenuto M; Di Giacomo MC; Castellana S; Mazza T; Castori M; Palumbo O; Carella M
Genes (Basel); 2021 Feb; 12(2):. PubMed ID: 33562463
[TBL] [Abstract][Full Text] [Related]
20. A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms.
Mizukami M; Ishikawa A; Miyazaki S; Tsuzuki A; Saito S; Niihori T; Sakurai A
Brain Dev; 2021 Apr; 43(4):563-565. PubMed ID: 33358638
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
