264 related articles for article (PubMed ID: 36256779)
21. Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
Wilfert AB; Sulovari A; Turner TN; Coe BP; Eichler EE
Genome Med; 2017 Nov; 9(1):101. PubMed ID: 29179772
[TBL] [Abstract][Full Text] [Related]
22. Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review.
Hanly C; Shah H; Au PYB; Murias K
Clin Genet; 2021 Mar; 99(3):335-346. PubMed ID: 33179249
[TBL] [Abstract][Full Text] [Related]
23. Genetic Counseling in Neurodevelopmental Disorders.
Blesson A; Cohen JS
Cold Spring Harb Perspect Med; 2020 Apr; 10(4):. PubMed ID: 31501260
[TBL] [Abstract][Full Text] [Related]
24. Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
Yang S; Wu L; Liao H; Lu X; Zhang X; Kuang X; Yang L
Neurogenetics; 2021 Oct; 22(4):323-332. PubMed ID: 34370157
[TBL] [Abstract][Full Text] [Related]
25. De novo mutation of cancer-related genes associates with particular neurodevelopmental disorders.
Li B; Li K; Tian D; Zhou Q; Xie Y; Fang Z; Wang X; Luo T; Wang Z; Zhang Y; Wang Y; Chen Q; Meng Q; Zhao G; Li J
J Mol Med (Berl); 2020 Dec; 98(12):1701-1712. PubMed ID: 33047154
[TBL] [Abstract][Full Text] [Related]
26. Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability.
Weil D; Piton A; Lessel D; Standart N
Biochem Soc Trans; 2020 Jun; 48(3):1199-1211. PubMed ID: 32412080
[TBL] [Abstract][Full Text] [Related]
27. Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder.
White-Brown A; Choufani S; ; Weksberg R; Dyment D
Am J Med Genet A; 2023 Oct; 191(10):2640-2646. PubMed ID: 37340855
[TBL] [Abstract][Full Text] [Related]
28. Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
van Jaarsveld RH; Reilly J; Cornips MC; Hadders MA; Agolini E; Ahimaz P; Anyane-Yeboa K; Bellanger SA; van Binsbergen E; van den Boogaard MJ; Brischoux-Boucher E; Caylor RC; Ciolfi A; van Essen TAJ; Fontana P; Hopman S; Iascone M; Javier MM; Kamsteeg EJ; Kerkhof J; Kido J; Kim HG; Kleefstra T; Lonardo F; Lai A; Lev D; Levy MA; Lewis MES; Lichty A; Mannens MMAM; Matsumoto N; Maya I; McConkey H; Megarbane A; Michaud V; Miele E; Niceta M; Novelli A; Onesimo R; Pfundt R; Popp B; Prijoles E; Relator R; Redon S; Rots D; Rouault K; Saida K; Schieving J; Tartaglia M; Tenconi R; Uguen K; Verbeek N; Walsh CA; Yosovich K; Yuskaitis CJ; Zampino G; Sadikovic B; Alders M; Oegema R
Genet Med; 2023 Jan; 25(1):49-62. PubMed ID: 36322151
[TBL] [Abstract][Full Text] [Related]
29. Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.
Choi SA; Lee HS; Park TJ; Park S; Ko YJ; Kim SY; Lim BC; Kim KJ; Chae JH
Brain Dev; 2021 Oct; 43(9):912-918. PubMed ID: 34116881
[TBL] [Abstract][Full Text] [Related]
30. Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Froukh T; Nafie O; Al Hait SAS; Laugwitz L; Sommerfeld J; Sturm M; Baraghiti A; Issa T; Al-Nazer A; Koch PA; Hanselmann J; Kootz B; Bauer P; Al-Ameri W; Abou Jamra R; Alfrook AJ; Hamadallah M; Sofan L; Riess A; Haack TB; Riess O; Buchert R
Clin Genet; 2020 Apr; 97(4):621-627. PubMed ID: 32056211
[TBL] [Abstract][Full Text] [Related]
31. Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy.
Marcé-Grau A; Elorza-Vidal X; Pérez-Rius C; Ruiz-Nel Lo A; Sala-Coromina J; Gabau E; Estévez R; Macaya A
Hum Mutat; 2021 Oct; 42(10):1215-1220. PubMed ID: 34212451
[TBL] [Abstract][Full Text] [Related]
32. Impaired Neurodevelopmental Genes in Slovenian Autistic Children Elucidate the Comorbidity of Autism With Other Developmental Disorders.
Krgovic D; Gorenjak M; Rihar N; Opalic I; Stangler Herodez S; Gregoric Kumperscak H; Dovc P; Kokalj Vokac N
Front Mol Neurosci; 2022; 15():912671. PubMed ID: 35813072
[TBL] [Abstract][Full Text] [Related]
33. De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders.
Wiel L; Hampstead JE; Venselaar H; Vissers LELM; Brunner HG; Pfundt R; Vriend G; Veltman JA; Gilissen C
Am J Hum Genet; 2023 Jan; 110(1):92-104. PubMed ID: 36563679
[TBL] [Abstract][Full Text] [Related]
34. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM; Trajkova S; Sebastiano MR; Partridge EC; Abidi FE; Anderson A; Ansar M; Antonarakis SE; Azadi A; Bachmann-Gagescu R; Bartuli A; Benech C; Berkowitz JL; Betti MJ; Brusco A; Cannon A; Caron G; Chen Y; Cochran ME; Coleman TF; Crenshaw MM; Cuisset L; Curry CJ; Darvish H; Demirdas S; Descartes M; Douglas J; Dyment DA; Elloumi HZ; Ermondi G; Faoucher M; Farrow EG; Felker SA; Fisher H; Hurst ACE; Joset P; Kelly MA; Kmoch S; Leadem BR; Lyons MJ; Macchiaiolo M; Magner M; Mandrile G; Mattioli F; McEown M; Meadows SK; Medne L; Meeks NJL; Montgomery S; Napier MP; Natowicz M; Newberry KM; Niceta M; Noskova L; Nowak CB; Noyes AG; Osmond M; Prijoles EJ; Pugh J; Pullano V; Quélin C; Rahimi-Aliabadi S; Rauch A; Redon S; Reymond A; Schwager CR; Sellars EA; Scheuerle AE; Shukarova-Angelovska E; Skraban C; Stolerman E; Sullivan BR; Tartaglia M; Thiffault I; Uguen K; Umaña LA; van Bever Y; van der Crabben SN; van Slegtenhorst MA; Waisfisz Q; Washington C; Rodan LH; Myers RM; Cooper GM
Am J Hum Genet; 2023 Feb; 110(2):215-227. PubMed ID: 36586412
[TBL] [Abstract][Full Text] [Related]
35. PACS1-Neurodevelopmental disorder: clinical features and trial readiness.
Van Nuland A; Reddy T; Quassem F; Vassalli JD; Berg AT
Orphanet J Rare Dis; 2021 Sep; 16(1):386. PubMed ID: 34517877
[TBL] [Abstract][Full Text] [Related]
36. [Analysis of a child with neurodevelopmental disorders due to variant of HNRNPU gene and a literature review].
Yin X; Zhou J; Yi H; Yang S; Yin N
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jan; 41(1):86-91. PubMed ID: 38171565
[TBL] [Abstract][Full Text] [Related]
37. Epigenomic Convergence of Neural-Immune Risk Factors in Neurodevelopmental Disorder Cortex.
Vogel Ciernia A; Laufer BI; Hwang H; Dunaway KW; Mordaunt CE; Coulson RL; Yasui DH; LaSalle JM
Cereb Cortex; 2020 Mar; 30(2):640-655. PubMed ID: 31240313
[TBL] [Abstract][Full Text] [Related]
38. Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes.
Wang T; Zhang Y; Liu L; Wang Y; Chen H; Fan T; Li J; Xia K; Sun Z
J Genet Genomics; 2021 Apr; 48(4):312-323. PubMed ID: 33994118
[TBL] [Abstract][Full Text] [Related]
39. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Millan F; Cho MT; Retterer K; Monaghan KG; Bai R; Vitazka P; Everman DB; Smith B; Angle B; Roberts V; Immken L; Nagakura H; DiFazio M; Sherr E; Haverfield E; Friedman B; Telegrafi A; Juusola J; Chung WK; Bale S
Am J Med Genet A; 2016 Jul; 170(7):1791-8. PubMed ID: 27133397
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]