284 related articles for article (PubMed ID: 22889856)
1. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
Harakalova M; van den Boogaard MJ; Sinke R; van Lieshout S; van Tuil MC; Duran K; Renkens I; Terhal PA; de Kovel C; Nijman IJ; van Haelst M; Knoers NV; van Haaften G; Kloosterman W; Hennekam RC; Cuppen E; Ploos van Amstel HK
J Med Genet; 2012 Aug; 49(8):539-43. PubMed ID: 22889856
[TBL] [Abstract][Full Text] [Related]
2. A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.
Cilliers DD; Parveen R; Clayton P; Cairns SA; Clarke S; Shalet SM; Black GC; Newman WG; Clayton-Smith J
Eur J Med Genet; 2007; 50(3):216-23. PubMed ID: 17369115
[TBL] [Abstract][Full Text] [Related]
3. Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.
Abidi FE; Cardoso C; Lossi AM; Lowry RB; Depetris D; Mattéi MG; Lubs HA; Stevenson RE; Fontes M; Chudley AE; Schwartz CE
Eur J Hum Genet; 2005 Feb; 13(2):176-83. PubMed ID: 15508018
[TBL] [Abstract][Full Text] [Related]
4. Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.
Giorgio E; Brussino A; Biamino E; Belligni EF; Bruselles A; Ciolfi A; Caputo V; Pizzi S; Calcia A; Di Gregorio E; Cavalieri S; Mancini C; Pozzi E; Ferrero M; Riberi E; Borelli I; Amoroso A; Ferrero GB; Tartaglia M; Brusco A
Eur J Paediatr Neurol; 2017 May; 21(3):475-484. PubMed ID: 28027854
[TBL] [Abstract][Full Text] [Related]
5. X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family.
Van Esch H; Zanni G; Holvoet M; Borghgraef M; Chelly J; Fryns JP; Devriendt K
Eur J Med Genet; 2005; 48(2):145-52. PubMed ID: 16053905
[TBL] [Abstract][Full Text] [Related]
6. A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Zweier C; Kraus C; Brueton L; Cole T; Degenhardt F; Engels H; Gillessen-Kaesbach G; Graul-Neumann L; Horn D; Hoyer J; Just W; Rauch A; Reis A; Wollnik B; Zeschnigk M; Lüdecke HJ; Wieczorek D
J Med Genet; 2013 Dec; 50(12):838-47. PubMed ID: 24092917
[TBL] [Abstract][Full Text] [Related]
7. Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
Agha Z; Iqbal Z; Azam M; Ayub H; Vissers LE; Gilissen C; Ali SH; Riaz M; Veltman JA; Pfundt R; van Bokhoven H; Qamar R
PLoS One; 2014; 9(11):e112687. PubMed ID: 25405613
[TBL] [Abstract][Full Text] [Related]
8. The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome.
Shashi V; Xie P; Schoch K; Goldstein DB; Howard TD; Berry MN; Schwartz CE; Cronin K; Sliwa S; Allen A; Need AC
Clin Genet; 2015 Oct; 88(4):386-90. PubMed ID: 25256757
[TBL] [Abstract][Full Text] [Related]
9. A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.
Bellad A; Bandari AK; Pandey A; Girimaji SC; Muthusamy B
J Mol Neurosci; 2020 Sep; 70(9):1403-1409. PubMed ID: 32399860
[TBL] [Abstract][Full Text] [Related]
10. Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.
Hickey SE; Walters-Sen L; Mosher TM; Pfau RB; Pyatt R; Snyder PJ; Sotos JF; Prior TW
Am J Med Genet A; 2013 Sep; 161A(9):2294-9. PubMed ID: 23897859
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.
Troester MM; Trachtenberg T; Narayanan V
J Child Neurol; 2007 Jun; 22(6):744-8. PubMed ID: 17641262
[TBL] [Abstract][Full Text] [Related]
12. HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
Friez MJ; Brooks SS; Stevenson RE; Field M; Basehore MJ; Adès LC; Sebold C; McGee S; Saxon S; Skinner C; Craig ME; Murray L; Simensen RJ; Yap YY; Shaw MA; Gardner A; Corbett M; Kumar R; Bosshard M; van Loon B; Tarpey PS; Abidi F; Gecz J; Schwartz CE
BMJ Open; 2016 Apr; 6(4):e009537. PubMed ID: 27130160
[TBL] [Abstract][Full Text] [Related]
13. Mutations in GDI1 and X-linked non-specific mental retardation.
Dell'Amico MC; Vivani P; Miccoli M; Cecconi M; Baggiani A
Ann Ig; 2011; 23(1):71-9. PubMed ID: 21736009
[TBL] [Abstract][Full Text] [Related]
14. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Frints SG; Lenzner S; Bauters M; Jensen LR; Van Esch H; des Portes V; Moog U; Macville MV; van Roozendaal K; Schrander-Stumpel CT; Tzschach A; Marynen P; Fryns JP; Hamel B; van Bokhoven H; Chelly J; Beldjord C; Turner G; Gecz J; Moraine C; Raynaud M; Ropers HH; Froyen G; Kuss AW
Eur J Hum Genet; 2008 Sep; 16(9):1029-37. PubMed ID: 18398436
[TBL] [Abstract][Full Text] [Related]
15. A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome.
Gao X; Huang Z; Fan Y; Sun Y; Liu H; Wang L; Gu XF; Yu Y
Cell Physiol Biochem; 2018; 47(6):2388-2395. PubMed ID: 29991052
[TBL] [Abstract][Full Text] [Related]
16. Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.
Londin ER; Adijanto J; Philp N; Novelli A; Vitale E; Perria C; Serra G; Alesi V; Surrey S; Fortina P
Am J Med Genet A; 2014 Sep; 164A(9):2294-9. PubMed ID: 24898194
[TBL] [Abstract][Full Text] [Related]
17. Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability.
Gieldon L; Mackenroth L; Betcheva-Krajcir E; Rump A; Beck-Wödl S; Schallner J; Di Donato N; Schröck E; Tzschach A
Am J Med Genet A; 2017 Sep; 173(9):2545-2550. PubMed ID: 28777483
[TBL] [Abstract][Full Text] [Related]
18. Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype.
Jezela-Stanek A; Murcia PV; Jurkiewicz D; Iwanicka-Pronicka K; Jędrzejowska M; Krajewska-Walasek M; Płoski R
Clin Dysmorphol; 2019 Jul; 28(3):126-130. PubMed ID: 30921088
[TBL] [Abstract][Full Text] [Related]
19. De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies.
Saikusa T; Hara M; Iwama K; Yuge K; Ohba C; Okada JI; Hisano T; Yamashita Y; Okamoto N; Saitsu H; Matsumoto N; Matsuishi T
Brain Dev; 2018 May; 40(5):406-409. PubMed ID: 29519750
[TBL] [Abstract][Full Text] [Related]
20. Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree.
Xu X; Zhang L; Tong P; Xun G; Su W; Xiong Z; Zhu T; Zheng Y; Luo S; Pan Y; Xia K; Hu Z
Clin Genet; 2013 Jun; 83(6):560-4. PubMed ID: 22957832
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
