117 related articles for article (PubMed ID: 30765867)
21. Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.
Di Benedetto D; Musumeci SA; Avola E; Alberti A; Buono S; Scuderi C; Grillo L; Galesi O; Spalletta A; Giudice ML; Luciano D; Vinci M; Bianca S; Romano C; Fichera M
Am J Med Genet A; 2014 Aug; 164A(8):1923-30. PubMed ID: 24733578
[TBL] [Abstract][Full Text] [Related]
22. A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.
Komara M; Al-Shamsi AM; Ben-Salem S; Ali BR; Al-Gazali L
J Mol Neurosci; 2015 Nov; 57(3):393-9. PubMed ID: 26055038
[TBL] [Abstract][Full Text] [Related]
23. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.
El Chehadeh S; Kerstjens-Frederikse WS; Thevenon J; Kuentz P; Bruel AL; Thauvin-Robinet C; Bensignor C; Dollfus H; Laugel V; Rivière JB; Duffourd Y; Bonnet C; Robert MP; Isaiko R; Straub M; Creuzot-Garcher C; Calvas P; Chassaing N; Loeys B; Reyniers E; Vandeweyer G; Kooy F; Hančárová M; Havlovicová M; Prchalová D; Sedláček Z; Gilissen C; Pfundt R; Wassink-Ruiter JSK; Faivre L
Eur J Hum Genet; 2016 Jan; 25(1):43-51. PubMed ID: 27804958
[TBL] [Abstract][Full Text] [Related]
24. Frequent truncating mutations of STAG2 in bladder cancer.
Black P
Urology; 2014 Apr; 83(4):691-2. PubMed ID: 24486001
[No Abstract] [Full Text] [Related]
25. 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]
26. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.
Cohen JS; Srivastava S; Farwell Hagman KD; Shinde DN; Huether R; Darcy D; Wallerstein R; Houge G; Berland S; Monaghan KG; Poretti A; Wilson AL; Chung WK; Fatemi A
Clin Genet; 2017 May; 91(5):697-707. PubMed ID: 27598823
[TBL] [Abstract][Full Text] [Related]
27. Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
Langley KG; Brown J; Gerber RJ; Fox J; Friez MJ; Lyons M; Schrier Vergano SA
Am J Med Genet A; 2015 Dec; 167A(12):3180-5. PubMed ID: 26338144
[TBL] [Abstract][Full Text] [Related]
28. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Tokita MJ; Chen CA; Chitayat D; Macnamara E; Rosenfeld JA; Hanchard N; Lewis AM; Brown CW; Marom R; Shao Y; Novacic D; Wolfe L; Wahl C; Tifft CJ; Toro C; Bernstein JA; Hale CL; Silver J; Hudgins L; Ananth A; Hanson-Kahn A; Shuster S; ; Magoulas PL; Patel VN; Zhu W; Chen SM; Jiang Y; Liu P; Eng CM; Batkovskyte D; di Ronza A; Sardiello M; Lee BH; Schaaf CP; Yang Y; Wang X
Am J Hum Genet; 2018 Jul; 103(1):154-162. PubMed ID: 29961569
[TBL] [Abstract][Full Text] [Related]
29. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Cheng H; Dharmadhikari AV; Varland S; Ma N; Domingo D; Kleyner R; Rope AF; Yoon M; Stray-Pedersen A; Posey JE; Crews SR; Eldomery MK; Akdemir ZC; Lewis AM; Sutton VR; Rosenfeld JA; Conboy E; Agre K; Xia F; Walkiewicz M; Longoni M; High FA; van Slegtenhorst MA; Mancini GMS; Finnila CR; van Haeringen A; den Hollander N; Ruivenkamp C; Naidu S; Mahida S; Palmer EE; Murray L; Lim D; Jayakar P; Parker MJ; Giusto S; Stracuzzi E; Romano C; Beighley JS; Bernier RA; Küry S; Nizon M; Corbett MA; Shaw M; Gardner A; Barnett C; Armstrong R; Kassahn KS; Van Dijck A; Vandeweyer G; Kleefstra T; Schieving J; Jongmans MJ; de Vries BBA; Pfundt R; Kerr B; Rojas SK; Boycott KM; Person R; Willaert R; Eichler EE; Kooy RF; Yang Y; Wu JC; Lupski JR; Arnesen T; Cooper GM; Chung WK; Gecz J; Stessman HAF; Meng L; Lyon GJ
Am J Hum Genet; 2018 May; 102(5):985-994. PubMed ID: 29656860
[TBL] [Abstract][Full Text] [Related]
30. Non-Invasive Detection of a De Novo Frameshift Variant of
Provenzano A; La Barbera A; Lai F; Perra A; Farina A; Cariati E; Zuffardi O; Giglio S
J Clin Med; 2022 Jul; 11(14):. PubMed ID: 35887945
[TBL] [Abstract][Full Text] [Related]
31. Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
Cadieux-Dion M; Safina NP; Engleman K; Saunders C; Repnikova E; Raje N; Canty K; Farrow E; Miller N; Zellmer L; Thiffault I
BMC Med Genet; 2018 Mar; 19(1):41. PubMed ID: 29523099
[TBL] [Abstract][Full Text] [Related]
32. Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.
Asadollahi R; Zweier M; Gogoll L; Schiffmann R; Sticht H; Steindl K; Rauch A
Eur J Med Genet; 2017 Sep; 60(9):451-464. PubMed ID: 28645799
[TBL] [Abstract][Full Text] [Related]
33. Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.
Pengelly RJ; Upstill-Goddard R; Arias L; Martinez J; Gibson J; Knut M; Collins AL; Ennis S; Collins A; Briceno I
Clin Genet; 2015 Nov; 88(5):441-9. PubMed ID: 25441681
[TBL] [Abstract][Full Text] [Related]
34. De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout S; Jansen S; Haesen D; van Belle S; de Munnik SA; Bongers EMHF; Schieving JH; Marcelis C; Amiel J; Rio M; Mclaughlin H; Ladda R; Sell S; Kriek M; Peeters-Scholte CMPCD; Terhal PA; van Gassen KL; Verbeek N; Henry S; Scott Schwoerer J; Malik S; Revencu N; Ferreira CR; Macnamara E; Braakman HMH; Brimble E; Ruzhnikov MRZ; Wagner M; Harrer P; Wieczorek D; Kuechler A; Tziperman B; Barel O; de Vries BBA; Gordon CT; Janssens V; Vissers LELM
Am J Hum Genet; 2019 Jan; 104(1):139-156. PubMed ID: 30595372
[TBL] [Abstract][Full Text] [Related]
35. Somatic mosaicism in
Schmidt J; Dreha-Kulaczewski S; Zafeiriou MP; Schreiber MK; Wilken B; Funke R; Neuhofer CM; Altmüller J; Thiele H; Nürnberg P; Biskup S; Li Y; Zimmermann WH; Kaulfuß S; Yigit G; Wollnik B
Front Cell Dev Biol; 2022; 10():1025332. PubMed ID: 36467423
[TBL] [Abstract][Full Text] [Related]
36. De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Caro-Llopis A; Rosello M; Orellana C; Oltra S; Monfort S; Mayo S; Martinez F
Pediatr Res; 2016 Dec; 80(6):809-815. PubMed ID: 27500536
[TBL] [Abstract][Full Text] [Related]
37. An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.
Prontera P; Escande F; Cocchi G; Donti E; Martini A; Sensi A
Genet Couns; 2008; 19(4):397-402. PubMed ID: 19239083
[TBL] [Abstract][Full Text] [Related]
38. Novel
Park J; Colombo R; Schäferhoff K; Janiri L; Grimmel M; Sturm M; Grasshoff U; Dufke A; Haack TB; Kehrer M
Mol Syndromol; 2019 Jul; 10(4):195-201. PubMed ID: 31602191
[TBL] [Abstract][Full Text] [Related]
39. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B; Pehlivan D; Karaca E; Patel N; Charng WL; Gambin T; Gonzaga-Jauregui C; Sutton VR; Yesil G; Bozdogan ST; Tos T; Koparir A; Koparir E; Beck CR; Gu S; Aslan H; Yuregir OO; Al Rubeaan K; Alnaqeb D; Alshammari MJ; Bayram Y; Atik MM; Aydin H; Geckinli BB; Seven M; Ulucan H; Fenercioglu E; Ozen M; Jhangiani S; Muzny DM; Boerwinkle E; Tuysuz B; Alkuraya FS; Gibbs RA; Lupski JR
J Clin Invest; 2015 Feb; 125(2):636-51. PubMed ID: 25574841
[TBL] [Abstract][Full Text] [Related]
40. Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
Zarate YA; Kalsner L; Basinger A; Jones JR; Li C; Szybowska M; Xu ZL; Vergano S; Caffrey AR; Gonzalez CV; Dubbs H; Zackai E; Millan F; Telegrafi A; Baskin B; Person R; Fish JL; Everman DB
Clin Genet; 2017 Oct; 92(4):423-429. PubMed ID: 28139846
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
