1 - 25 of 98 results for author:"Gecz J." in Literature citations
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| A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Huang L., Jolly L.A., Willis-Owen S., Gardner A., Kumar R., Douglas E., Shoubridge C., Wieczorek D., Tzschach A., Cohen M. et al. Am. J. Hum. Genet. 91:694-702(2012) · UniProtKB (1) |
| Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. Lynch S.A., Nguyen L.S., Ng L.Y., Waldron M., McDonald D., Gecz J. Eur J Med Genet 55:476-479(2012) · Mapped (3) |
| Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations. Field M., Scheffer I.E., Gill D., Wilson M., Christie L., Shaw M., Gardner A., Glubb G., Hobson L., Corbett M. et al. Eur. J. Hum. Genet. 20:806-809(2012) · Mapped (9) |
| PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Heron S.E., Grinton B.E., Kivity S., Afawi Z., Zuberi S.M., Hughes J.N., Pridmore C., Hodgson B.L., Iona X., Sadleir L.G. et al. Am. J. Hum. Genet. 90:152-160(2012) · UniProtKB (1) |
| ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression. Shoubridge C., Tan M.H., Seiboth G., Gecz J. Hum. Mol. Genet. 21:1639-1647(2012) · Mapped (1) |
| CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. School of Medicine, University of California, Los Angeles, CA, USA. Voineagu I., Huang L., Winden K., Lazaro M., Haan E., Nelson J., McGaughran J., Nguyen L.S., Friend K., Hackett A. et al. |
| A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. Corbett M.A., Schwake M., Bahlo M., Dibbens L.M., Lin M., Gandolfo L.C., Vears D.F., O'Sullivan J.D., Robertson T., Bayly M.A. et al. Am. J. Hum. Genet. 88:657-663(2011) · UniProtKB (1) · Mapped (1) |
| Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene. Fullston T., Finnis M., Hackett A., Hodgson B., Brueton L., Baynam G., Norman A., Reish O., Shoubridge C., Gecz J. Clin. Genet. 80:510-522(2011) · Mapped (1) |
| Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability. Melko M., Douguet D., Bensaid M., Zongaro S., Verheggen C., Gecz J., Bardoni B. Hum. Mol. Genet. 20:1873-1885(2011) · Mapped (8) |
| Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. Jensen L.R., Chen W., Moser B., Lipkowitz B., Schroeder C., Musante L., Tzschach A., Kalscheuer V.M., Meloni I., Raynaud M. et al. Eur. J. Hum. Genet. 19:717-720(2011) · Mapped (5) |
| Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. McLarren K.W., Severson T.M., du Souich C., Stockton D.W., Kratz L.E., Cunningham D., Hendson G., Morin R.D., Wu D., Paul J.E. et al. Am. J. Hum. Genet. 87:905-914(2010) · UniProtKB (1) · Mapped (4) |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Noor A., Whibley A., Marshall C.R., Gianakopoulos P.J., Piton A., Carson A.R., Orlic-Milacic M., Lionel A.C., Sato D., Pinto D. et al. Sci. Transl. Med. 2:49RA68-49RA68(2010) · UniProtKB (2) · Mapped (2) |
| A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Corbett M.A., Bahlo M., Jolly L., Afawi Z., Gardner A.E., Oliver K.L., Tan S., Coffey A., Mulley J.C., Dibbens L.M. et al. Am. J. Hum. Genet. 87:371-375(2010) · UniProtKB (3) · Mapped (3) |
| ARX spectrum disorders: making inroads into the molecular pathology. Shoubridge C., Fullston T., Gecz J. Hum. Mutat. 31:889-900(2010) · Mapped (1) |
| Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. Shoubridge C., Tarpey P.S., Abidi F., Ramsden S.L., Rujirabanjerd S., Murphy J.A., Boyle J., Shaw M., Gardner A., Proos A. et al. |
| Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. White R., Ho G., Schmidt S., Scheffer I.E., Fischer A., Yendle S.C., Bienvenu T., Nectoux J., Ellaway C.J., Darmanian A. et al. Twin Res Hum Genet 13:168-178(2010) · Mapped (1) |
| PHF6 mutations in T-cell acute lymphoblastic leukemia. Van Vlierberghe P., Palomero T., Khiabanian H., Van der Meulen J., Castillo M., Van Roy N., De Moerloose B., Philippe J., Gonzalez-Garcia S., Toribio M.L. et al. Nat. Genet. 42:338-342(2010) · Mapped (5) |
| Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. Lugtenberg D., Zangrande-Vieira L., Kirchhoff M., Whibley A.C., Oudakker A.R., Kjaergaard S., Vianna-Morgante A.M., Kleefstra T., Ruiter M., Jehee F.S. et al. Am. J. Med. Genet. A 152A:638-645(2010) · Mapped (3) |
| Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Giannandrea M., Bianchi V., Mignogna M.L., Sirri A., Carrabino S., D'Elia E., Vecellio M., Russo S., Cogliati F., Larizza L. et al. Am. J. Hum. Genet. 86:185-195(2010) · UniProtKB (2) · Mapped (4) |
| CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Hackett A., Tarpey P.S., Licata A., Cox J., Whibley A., Boyle J., Rogers C., Grigg J., Partington M., Stevenson R.E. et al. Eur. J. Hum. Genet. 18:544-552(2010) · Mapped (2) |
| Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. Rujirabanjerd S., Nelson J., Tarpey P.S., Hackett A., Edkins S., Raymond F.L., Schwartz C.E., Turner G., Iwase S., Shi Y. et al. Eur. J. Hum. Genet. 18:330-335(2010) · Mapped (3) |
| Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Hynes K., Tarpey P., Dibbens L.M., Bayly M.A., Berkovic S.F., Smith R., Raisi Z.A., Turner S.J., Brown N.J., Desai T.D. et al. J. Med. Genet. 47:211-216(2010) · UniProtKB (1) · Mapped (2) |
| Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). Fullston T., Brueton L., Willis T., Philip S., MacPherson L., Finnis M., Gecz J., Morton J. Eur. J. Hum. Genet. 18:157-162(2010) · Mapped (1) |
| A UPF3-mediated regulatory switch that maintains RNA surveillance. Chan W.K., Bhalla A.D., Le Hir H., Nguyen L.S., Huang L., Gecz J., Wilkinson M.F. Nat. Struct. Mol. Biol. 16:747-753(2009) · Mapped (7) |
| NHS-A isoform of the NHS gene is a novel interactor of ZO-1. Sharma S., Koh K.S., Collin C., Dave A., McMellon A., Sugiyama Y., McAvoy J.W., Voss A.K., Gecz J., Craig J.E. Exp. Cell Res. 315:2358-2372(2009) · Mapped (7) |