1 - 25 of 39 results for author:"Sheridan E." in Literature citations
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| Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. CORGI Consortium Nat. Genet. 45:136-144(2013) · Mapped (14) |
| CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Panizzi J.R., Becker-Heck A., Castleman V.H., Al-Mutairi D.A., Liu Y., Loges N.T., Pathak N., Austin-Tse C., Sheridan E., Schmidts M. et al. Nat. Genet. 44:714-719(2012) · UniProtKB (3) |
| Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Diggle C.P., Parry D.A., Logan C.V., Laissue P., Rivera C., Restrepo C.M., Fonseca D.J., Morgan J.E., Allanore Y., Fontenay M. et al. |
| Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Roscioli T., Kamsteeg E.J., Buysse K., Maystadt I., van Reeuwijk J., van den Elzen C., van Beusekom E., Riemersma M., Pfundt R., Vissers L.E. et al. |
| Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Logan C.V., Lucke B., Pottinger C., Abdelhamed Z.A., Parry D.A., Szymanska K., Diggle C.P., Riesen A., Morgan J.E., Markham G. et al. Nat. Genet. 43:1189-1192(2011) · UniProtKB (1) |
| Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Khan K., Logan C.V., McKibbin M., Sheridan E., Elcioglu N.H., Yenice O., Parry D.A., Fernandez-Fuentes N., Abdelhamed Z.I., Al-Maskari A. et al. Hum. Mol. Genet. 21:776-783(2012) · Mapped (2) |
| Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma. Khan K., Rudkin A., Parry D.A., Burdon K.P., McKibbin M., Logan C.V., Abdelhamed Z.I., Muecke J.S., Fernandez-Fuentes N., Laurie K.J. et al. Am. J. Hum. Genet. 89:464-473(2011) · Mapped (2) |
| Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. Parry D.A., Logan C.V., Hayward B.E., Shires M., Landolsi H., Diggle C., Carr I., Rittore C., Touitou I., Philibert L. et al. Am. J. Hum. Genet. 89:451-458(2011) · UniProtKB (2) |
| The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Bakircioglu M., Carvalho O.P., Khurshid M., Cox J.J., Tuysuz B., Barak T., Yilmaz S., Caglayan O., Dincer A., Nicholas A.K. et al. Am. J. Hum. Genet. 88:523-535(2011) · UniProtKB (1) · Mapped (13) |
| Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome. Thompson D.A., Feather S., Stanescu H.C., Freudenthal B., Zdebik A.A., Warth R., Ognjanovic M., Hulton S.A., Wassmer E., van't Hoff W. et al. J. Physiol. (Lond.) 589:1681-1689(2011) · Mapped (4) |
| Screening for anorexia nervosa via measurement of serum leptin levels. Focker M., Timmesfeld N., Scherag S., Buhren K., Langkamp M., Dempfle A., Sheridan E.M., de Zwaan M., Fleischhaker C., Herzog W. et al. J Neural Transm 118:571-578(2011) · Mapped (5) |
| MHC variation and risk of childhood B-cell precursor acute lymphoblastic leukemia. Hosking F.J., Leslie S., Dilthey A., Moutsianas L., Wang Y., Dobbins S.E., Papaemmanuil E., Sheridan E., Kinsey S.E., Lightfoot T. et al. Blood 117:1633-1640(2011) · Mapped (2,351) |
| Emergence of a new antibiotic resistance mechanism in India, Pakistan, and the UK: a molecular, biological, and epidemiological study. Kumarasamy K.K., Toleman M.A., Walsh T.R., Bagaria J., Butt F., Balakrishnan R., Chaudhary U., Doumith M., Giske C.G., Irfan S. et al. Lancet Infect. Dis. 10:597-602(2010) · UniProtKB (1) |
| Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Iannicelli M., Brancati F., Mougou-Zerelli S., Mazzotta A., Thomas S., Elkhartoufi N., Travaglini L., Gomes C., Ardissino G.L., Bertini E. et al. Hum. Mutat. 31:E1319-31(2010) · Mapped (2) |
| Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Green P., Wiseman M., Crow Y.J., Houlden H., Riphagen S., Lin J.P., Raymond F.L., Childs A.M., Sheridan E., Edwards S. et al. Am. J. Hum. Genet. 86:485-489(2010) · UniProtKB (1) · Mapped (1) |
| Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Leen W.G., Klepper J., Verbeek M.M., Leferink M., Hofste T., van Engelen B.G., Wevers R.A., Arthur T., Bahi-Buisson N., Ballhausen D. et al. Brain 133:655-670(2010) · UniProtKB (1) |
| Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood. Prasad R.B., Hosking F.J., Vijayakrishnan J., Papaemmanuil E., Koehler R., Greaves M., Sheridan E., Gast A., Kinsey S.E., Lightfoot T. et al. |
| Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Abdollahi M.R., Morrison E., Sirey T., Molnar Z., Hayward B.E., Carr I.M., Springell K., Woods C.G., Ahmed M., Hattingh L. et al. Am. J. Hum. Genet. 85:737-744(2009) · UniProtKB (2) · Mapped (1) |
| T (brachyury) gene duplication confers major susceptibility to familial chordoma. Yang X.R., Ng D., Alcorta D.A., Liebsch N.J., Sheridan E., Li S., Goldstein A.M., Parry D.M., Kelley M.J. |
| Expanding CEP290 mutational spectrum in ciliopathies. Travaglini L., Brancati F., Attie-Bitach T., Audollent S., Bertini E., Kaplan J., Perrault I., Iannicelli M., Mancuso B., Rigoli L. et al. Am. J. Med. Genet. A 149A:2173-2180(2009) · Mapped (4) |
| Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Papaemmanuil E., Hosking F.J., Vijayakrishnan J., Price A., Olver B., Sheridan E., Kinsey S.E., Lightfoot T., Roman E., Irving J.A. et al. |
| Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. Bockenhauer D., Feather S., Stanescu H.C., Bandulik S., Zdebik A.A., Reichold M., Tobin J., Lieberer E., Sterner C., Landoure G. et al. N. Engl. J. Med. 360:1960-1970(2009) · UniProtKB (1) · Mapped (3) |
| Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation. Anand S., Sheridan E., Cassidy F., Inglehearn C., Williams G., Springell K., Allgar V., Kelly T.L., McKibbin M. Retina (Philadelphia, Pa.) 29:682-688(2009) · Mapped (2) |
| Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. Peron S., Metin A., Gardes P., Alyanakian M.A., Sheridan E., Kratz C.P., Fischer A., Durandy A. J. Exp. Med. 205:2465-2472(2008) · Mapped (4) |
| X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. Saldana M., Thompson J., Monk E., Trump D., Long V., Sheridan E. Am. J. Med. Genet. A 143:608-609(2007) · UniProtKB (1) |