268 related articles for article (PubMed ID: 29681091)
1. Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability.
Schirwani S; Wakeling E; Smith K; ; Balasubramanian M
Am J Med Genet A; 2018 May; 176(5):1238-1244. PubMed ID: 29681091
[TBL] [Abstract][Full Text] [Related]
2. Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
Masurel-Paulet A; Kalscheuer VM; Lebrun N; Hu H; Levy F; Thauvin-Robinet C; Darmency-Stamboul V; El Chehadeh S; Thevenon J; Chancenotte S; Ruffier-Bourdet M; Bonnet M; Pinoit JM; Huet F; Desportes V; Chelly J; Faivre L
Am J Med Genet A; 2014 Mar; 164A(3):789-95. PubMed ID: 24357419
[TBL] [Abstract][Full Text] [Related]
3. The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing.
Han JY; Lee IG; Shin S; Kim M; Jang JH; Park J
Eur J Med Genet; 2017 Oct; 60(10):499-503. PubMed ID: 28687527
[TBL] [Abstract][Full Text] [Related]
4. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
Hackmann K; Rump A; Haas SA; Lemke JR; Fryns JP; Tzschach A; Wieczorek D; Albrecht B; Kuechler A; Ripperger T; Kobelt A; Oexle K; Tinschert S; Schrock E; Kalscheuer VM; Di Donato N
Am J Med Genet A; 2016 Jan; 170A(1):94-102. PubMed ID: 26358559
[TBL] [Abstract][Full Text] [Related]
5. Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies.
Tejada MI; Ibarluzea N
Clin Genet; 2020 May; 97(5):677-687. PubMed ID: 31898314
[TBL] [Abstract][Full Text] [Related]
6. Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.
Raymond FL; Tarpey PS; Edkins S; Tofts C; O'Meara S; Teague J; Butler A; Stevens C; Barthorpe S; Buck G; Cole J; Dicks E; Gray K; Halliday K; Hills K; Hinton J; Jones D; Menzies A; Perry J; Raine K; Shepherd R; Small A; Varian J; Widaa S; Mallya U; Moon J; Luo Y; Shaw M; Boyle J; Kerr B; Turner G; Quarrell O; Cole T; Easton DF; Wooster R; Bobrow M; Schwartz CE; Gecz J; Stratton MR; Futreal PA
Am J Hum Genet; 2007 May; 80(5):982-7. PubMed ID: 17436253
[TBL] [Abstract][Full Text] [Related]
7. ZDHHC9 X-linked intellectual disability: Clinical and molecular characterization.
Ramos AKS; Caldas-Rosa ECC; Ferreira BM; Versiani BR; Moretti PN; de Oliveira SF; Pic-Taylor A; Mazzeu JF
Am J Med Genet A; 2023 Feb; 191(2):599-604. PubMed ID: 36416207
[TBL] [Abstract][Full Text] [Related]
8. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Ibarluzea N; Hoz AB; Villate O; Llano I; Ocio I; Martí I; Guitart M; Gabau E; Andrade F; Gener B; Tejada MI
Genes (Basel); 2020 Jan; 11(1):. PubMed ID: 31906484
[TBL] [Abstract][Full Text] [Related]
9. Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability.
Daoqi M; Guohong C; Yuan W; Zhixiao Y; Kaili X; Shiyue M
BMC Med Genet; 2020 Apr; 21(1):69. PubMed ID: 32245427
[TBL] [Abstract][Full Text] [Related]
10. Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature.
Mir A; Song Y; Lee H; Khanahmad H; Khorram E; Nasiri J; Tabatabaiefar MA
BMC Med Genomics; 2023 Oct; 16(1):239. PubMed ID: 37821930
[TBL] [Abstract][Full Text] [Related]
11. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H; Haas SA; Chelly J; Van Esch H; Raynaud M; de Brouwer AP; Weinert S; Froyen G; Frints SG; Laumonnier F; Zemojtel T; Love MI; Richard H; Emde AK; Bienek M; Jensen C; Hambrock M; Fischer U; Langnick C; Feldkamp M; Wissink-Lindhout W; Lebrun N; Castelnau L; Rucci J; Montjean R; Dorseuil O; Billuart P; Stuhlmann T; Shaw M; Corbett MA; Gardner A; Willis-Owen S; Tan C; Friend KL; Belet S; van Roozendaal KE; Jimenez-Pocquet M; Moizard MP; Ronce N; Sun R; O'Keeffe S; Chenna R; van Bömmel A; Göke J; Hackett A; Field M; Christie L; Boyle J; Haan E; Nelson J; Turner G; Baynam G; Gillessen-Kaesbach G; Müller U; Steinberger D; Budny B; Badura-Stronka M; Latos-Bieleńska A; Ousager LB; Wieacker P; Rodríguez Criado G; Bondeson ML; Annerén G; Dufke A; Cohen M; Van Maldergem L; Vincent-Delorme C; Echenne B; Simon-Bouy B; Kleefstra T; Willemsen M; Fryns JP; Devriendt K; Ullmann R; Vingron M; Wrogemann K; Wienker TF; Tzschach A; van Bokhoven H; Gecz J; Jentsch TJ; Chen W; Ropers HH; Kalscheuer VM
Mol Psychiatry; 2016 Jan; 21(1):133-48. PubMed ID: 25644381
[TBL] [Abstract][Full Text] [Related]
12. Schimke XLID syndrome results from a deletion in BCAP31.
Louie RJ; Collins DL; Friez MJ; Skinner C; Schwartz CE; Stevenson RE
Am J Med Genet A; 2020 Sep; 182(9):2168-2174. PubMed ID: 32681719
[TBL] [Abstract][Full Text] [Related]
13. Next-generation sequencing in X-linked intellectual disability.
Tzschach A; Grasshoff U; Beck-Woedl S; Dufke C; Bauer C; Kehrer M; Evers C; Moog U; Oehl-Jaschkowitz B; Di Donato N; Maiwald R; Jung C; Kuechler A; Schulz S; Meinecke P; Spranger S; Kohlhase J; Seidel J; Reif S; Rieger M; Riess A; Sturm M; Bickmann J; Schroeder C; Dufke A; Riess O; Bauer P
Eur J Hum Genet; 2015 Nov; 23(11):1513-8. PubMed ID: 25649377
[TBL] [Abstract][Full Text] [Related]
14. Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Frints SGM; Ozanturk A; Rodríguez Criado G; Grasshoff U; de Hoon B; Field M; Manouvrier-Hanu S; E Hickey S; Kammoun M; Gripp KW; Bauer C; Schroeder C; Toutain A; Mihalic Mosher T; Kelly BJ; White P; Dufke A; Rentmeester E; Moon S; Koboldt DC; van Roozendaal KEP; Hu H; Haas SA; Ropers HH; Murray L; Haan E; Shaw M; Carroll R; Friend K; Liebelt J; Hobson L; De Rademaeker M; Geraedts J; Fryns JP; Vermeesch J; Raynaud M; Riess O; Gribnau J; Katsanis N; Devriendt K; Bauer P; Gecz J; Golzio C; Gontan C; Kalscheuer VM
Mol Psychiatry; 2019 Nov; 24(11):1748-1768. PubMed ID: 29728705
[TBL] [Abstract][Full Text] [Related]
15. A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P; Prigatano GP; Szelinger S; Roth J; Siniard AL; Claasen AM; Richholt RF; De Both M; Corneveaux JJ; Moskowitz AM; Balak C; Piras IS; Russell M; Courtright AL; Belnap N; Rangasamy S; Ramsey K; Opitz JM; Craig DW; Narayanan V; Huentelman MJ; Schrauwen I
Am J Med Genet A; 2017 Mar; 173(3):611-617. PubMed ID: 28139025
[TBL] [Abstract][Full Text] [Related]
16. IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic features.
Youngs EL; Henkhaus R; Hellings JA; Butler MG
Eur J Med Genet; 2012 Jan; 55(1):32-6. PubMed ID: 21933724
[TBL] [Abstract][Full Text] [Related]
17. Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
Tønne E; Holdhus R; Stansberg C; Stray-Pedersen A; Petersen K; Brunner HG; Gilissen C; Hoischen A; Prescott T; Steen VM; Fiskerstrand T
Eur J Hum Genet; 2015 Dec; 23(12):1652-6. PubMed ID: 25735484
[TBL] [Abstract][Full Text] [Related]
18. Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
Basehore MJ; Michaelson-Cohen R; Levy-Lahad E; Sismani C; Bird LM; Friez MJ; Walsh T; Abidi F; Holloway L; Skinner C; McGee S; Alexandrou A; Syrrou M; Patsalis PC; Raymond G; Wang T; Schwartz CE; King MC; Stevenson RE
Clin Genet; 2015 May; 87(5):461-6. PubMed ID: 24805811
[TBL] [Abstract][Full Text] [Related]
19. MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
Rubinato E; Rondeau S; Giuliano F; Kossorotoff M; Parodi M; Gherbi S; Steffan J; Jonard L; Marlin S
Eur J Med Genet; 2020 Mar; 63(3):103768. PubMed ID: 31536828
[TBL] [Abstract][Full Text] [Related]
20. Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.
Muthusamy B; Selvan LDN; Nguyen TT; Manoj J; Stawiski EW; Jaiswal BS; Wang W; Raja R; Ramprasad VL; Gupta R; Murugan S; Kadandale JS; Prasad TSK; Reddy K; Peterson A; Pandey A; Seshagiri S; Girimaji SC; Gowda H
OMICS; 2017 May; 21(5):295-303. PubMed ID: 28481730
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
