207 related articles for article (PubMed ID: 33942996)
21. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA; O'Donnell-Luria A; Agrawal PB; Coban Akdemir Z; Aleck KA; Antaki D; Al Sharhan H; Au PB; Aydin H; Beggs AH; Bilguvar K; Boerwinkle E; Brand H; Brownstein CA; Buyske S; Chodirker B; Choi J; Chudley AE; Clericuzio CL; Cox GF; Curry C; de Boer E; de Vries BBA; Dunn K; Dutmer CM; England EM; Fahrner JA; Geckinli BB; Genetti CA; Gezdirici A; Gibson WT; Gleeson JG; Greenberg CR; Hall A; Hamosh A; Hartley T; Jhangiani SN; Karaca E; Kernohan K; Lauzon JL; Lewis MES; Lowry RB; López-Giráldez F; Matise TC; McEvoy-Venneri J; McInnes B; Mhanni A; Garcia Minaur S; Moilanen J; Nguyen A; Nowaczyk MJM; Posey JE; Õunap K; Pehlivan D; Pajusalu S; Penney LS; Poterba T; Prontera P; Doriqui MJR; Sawyer SL; Sobreira N; Stanley V; Torun D; Wargowski D; Witmer PD; Wong I; Xing J; Zaki MS; Zhang Y; ; ; Boycott KM; Bamshad MJ; Nickerson DA; Blue EE; Innes AM
Am J Med Genet A; 2021 Jan; 185(1):119-133. PubMed ID: 33098347
[TBL] [Abstract][Full Text] [Related]
22. Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Rio M; Clech L; Amiel J; Faivre L; Lyonnet S; Le Merrer M; Odent S; Lacombe D; Edery P; Brauner R; Raoul O; Gosset P; Prieur M; Vekemans M; Munnich A; Colleaux L; Cormier-Daire V
J Med Genet; 2003 Jun; 40(6):436-40. PubMed ID: 12807965
[TBL] [Abstract][Full Text] [Related]
23. A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Lumaka A; Race V; Peeters H; Corveleyn A; Coban-Akdemir Z; Jhangiani SN; Song X; Mubungu G; Posey J; Lupski JR; Vermeesch JR; Lukusa P; Devriendt K
Am J Med Genet A; 2018 Sep; 176(9):1897-1909. PubMed ID: 30088852
[TBL] [Abstract][Full Text] [Related]
24. Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.
Kim HJ; Park CI; Lim JW; Lee GM; Cho E; Kim HJ
Yonsei Med J; 2018 May; 59(3):431-437. PubMed ID: 29611406
[TBL] [Abstract][Full Text] [Related]
25. Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment.
Grens K; Church KM; Diehl E; Hunter SE; Tatton-Brown K; Kiernan J; Delagrammatikas CG
Ther Adv Rare Dis; 2024; 5():26330040241254123. PubMed ID: 38827639
[TBL] [Abstract][Full Text] [Related]
26. Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Di Gregorio E; Riberi E; Belligni EF; Biamino E; Spielmann M; Ala U; Calcia A; Bagnasco I; Carli D; Gai G; Giordano M; Guala A; Keller R; Mandrile G; Arduino C; Maffè A; Naretto VG; Sirchia F; Sorasio L; Ungari S; Zonta A; Zacchetti G; Talarico F; Pappi P; Cavalieri S; Giorgio E; Mancini C; Ferrero M; Brussino A; Savin E; Gandione M; Pelle A; Giachino DF; De Marchi M; Restagno G; Provero P; Cirillo Silengo M; Grosso E; Buxbaum JD; Pasini B; De Rubeis S; Brusco A; Ferrero GB
Clin Genet; 2017 Oct; 92(4):415-422. PubMed ID: 28295210
[TBL] [Abstract][Full Text] [Related]
27. 19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Trimouille A; Houcinat N; Vuillaume ML; Fergelot P; Boucher C; Toutain J; Caignec CL; Vincent M; Nizon M; Andrieux J; Vanlerberghe C; Delobel B; Duban B; Mansour S; Baple E; McKeown C; Poke G; Robertshaw K; Fifield E; Fabretto A; Pecile V; Gasparini P; Carrozzi M; Lacombe D; Arveiler B; Rooryck C; Moutton S
Eur J Hum Genet; 2018 Jan; 26(1):85-93. PubMed ID: 29184170
[TBL] [Abstract][Full Text] [Related]
28. Molecular basis of Sotos syndrome.
Niikawa N
Horm Res; 2004; 62 Suppl 3():60-5. PubMed ID: 15539801
[TBL] [Abstract][Full Text] [Related]
29. Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.
Carlston CM; Bleyl SB; Andrews A; Meyers L; Brown S; Bayrak-Toydemir P; Bale JF; Botto LD
Am J Med Genet A; 2019 May; 179(5):792-796. PubMed ID: 30773818
[TBL] [Abstract][Full Text] [Related]
30. A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.
Hancarova M; Babikyan D; Bendova S; Midyan S; Prchalova D; Shahsuvaryan G; Stranecky V; Sarkisian T; Sedlacek Z
Mol Genet Genomic Med; 2019 Sep; 7(9):e865. PubMed ID: 31334606
[TBL] [Abstract][Full Text] [Related]
31. A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
Akawi N; Ben-Salem S; Lahti L; Partanen J; Ali BR; Al-Gazali L
Am J Med Genet A; 2016 Aug; 170(8):2111-8. PubMed ID: 27183861
[TBL] [Abstract][Full Text] [Related]
32. Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability.
Peycheva V; Kamenarova K; Ivanova N; Stamatov D; Avdjieva-Tzavella D; Alexandrova I; Zhelyazkova S; Pacheva I; Dimova P; Ivanov I; Litvinenko I; Bozhinova V; Tournev I; Simeonov E; Mitev V; Jordanova A; Kaneva R
Gene; 2018 Aug; 667():45-55. PubMed ID: 29753047
[TBL] [Abstract][Full Text] [Related]
33. De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Dennert N; Engels H; Cremer K; Becker J; Wohlleber E; Albrecht B; Ehret JK; Lüdecke HJ; Suri M; Carignani G; Renieri A; Kukuk GM; Wieland T; Andrieux J; Strom TM; Wieczorek D; Dieux-Coëslier A; Zink AM
Am J Med Genet A; 2017 Feb; 173(2):435-443. PubMed ID: 27862890
[TBL] [Abstract][Full Text] [Related]
34. Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation.
Hu T; Zhang Z; Wang J; Li Q; Zhu H; Lai Y; Wang H; Liu S
Biomed Res Int; 2019; 2019():9352581. PubMed ID: 31781653
[TBL] [Abstract][Full Text] [Related]
35. Chromosomal Aberrations in Pediatric Patients With Moderate/Severe Developmental Delay/Intellectual Disability With Abundant Phenotypic Heterogeneities: A Single-Center Study.
Wu D; Wu Y; Lan Y; Lan S; Zhong Z; Li D; Zheng Z; Wang H; Ma L
Pediatr Neurol; 2023 Oct; 147():72-81. PubMed ID: 37566956
[TBL] [Abstract][Full Text] [Related]
36. Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome.
Das Bhowmik A; Dalal A
Gene; 2015 Nov; 572(2):303-6. PubMed ID: 26321508
[TBL] [Abstract][Full Text] [Related]
37. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Dias KR; Shrestha R; Schofield D; Evans CA; O'Heir E; Zhu Y; Zhang F; Standen K; Weisburd B; Stenton SL; Sanchis-Juan A; Brand H; Talkowski ME; Ma A; Ghedia S; Wilson M; Sandaradura SA; Smith J; Kamien B; Turner A; Bakshi M; Adès LC; Mowat D; Regan M; McGillivray G; Savarirayan R; White SM; Tan TY; Stark Z; Brown NJ; Pérez-Jurado LA; Krzesinski E; Hunter MF; Akesson L; Fennell AP; Yeung A; Boughtwood T; Ewans LJ; Kerkhof J; Lucas C; Carey L; French H; Rapadas M; Stevanovski I; Deveson IW; Cliffe C; Elakis G; Kirk EP; Dudding-Byth T; Fletcher J; Walsh R; Corbett MA; Kroes T; Gecz J; Meldrum C; Cliffe S; Wall M; Lunke S; North K; Amor DJ; Field M; Sadikovic B; Buckley MF; O'Donnell-Luria A; Roscioli T
Genet Med; 2024 May; 26(5):101076. PubMed ID: 38258669
[TBL] [Abstract][Full Text] [Related]
38. Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Al-Nabhani M; Al-Rashdi S; Al-Murshedi F; Al-Kindi A; Al-Thihli K; Al-Saegh A; Al-Futaisi A; Al-Mamari W; Zadjali F; Al-Maawali A
Clin Genet; 2018 Dec; 94(6):495-501. PubMed ID: 30125339
[TBL] [Abstract][Full Text] [Related]
39. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Klaassens M; Morrogh D; Rosser EM; Jaffer F; Vreeburg M; Bok LA; Segboer T; van Belzen M; Quinlivan RM; Kumar A; Hurst JA; Scott RH
Eur J Hum Genet; 2015 May; 23(5):610-5. PubMed ID: 25118028
[TBL] [Abstract][Full Text] [Related]
40. Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
Yeung KS; Tso WWY; Ip JJK; Mak CCY; Leung GKC; Tsang MHY; Ying D; Pei SLC; Lee SL; Yang W; Chung BH
Mol Autism; 2017; 8():66. PubMed ID: 29296277
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]