21 results for author:"Gurnett C." in Literature citations
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| Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle. Vydyanath A., Gurnett C.A., Marston S., Luther P.K. J. Muscle Res. Cell. Motil. 33:61-74(2012) · Mapped (8) |
| Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice. Alvarado D.M., McCall K., Aferol H., Silva M.J., Garbow J.R., Spees W.M., Patel T., Siegel M., Dobbs M.B., Gurnett C.A. Hum. Mol. Genet. 20:3943-3952(2011) · Mapped (3) |
| Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype. McGregor T.L., Gurnett C.A., Dobbs M.B., Wise C.A., Morcuende J.A., Morgan T.M., Menon R., Muglia L.J. BMC Med. Genet. 12:92-92(2011) · Mapped (18) |
| Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. Alvarado D.M., Buchan J.G., Gurnett C.A., Dobbs M.B. J Bone Joint Surg Am 93:1045-1050(2011) · Mapped (2) |
| Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility. Jorge B.S., Campbell C.M., Miller A.R., Rutter E.D., Gurnett C.A., Vanoye C.G., George A.L. Jr., Kearney J.A. Proc. Natl. Acad. Sci. U.S.A. 108:5443-5448(2011) · Mapped (2) |
| Mutations in prickle orthologs cause seizures in flies, mice, and humans. Tao H., Manak J.R., Sowers L., Mei X., Kiyonari H., Abe T., Dahdaleh N.S., Yang T., Wu S., Chen S. et al. Am. J. Hum. Genet. 88:138-149(2011) · UniProtKB (3) · Mapped (9) |
| Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis. Shyy W., Wang K., Gurnett C.A., Dobbs M.B., Miller N.H., Wise C., Sheffield V.C., Morcuende J.A. J Pediatr Orthop 30:539-543(2010) · Mapped (8) |
| Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. Mefford H.C., Muhle H., Ostertag P., von Spiczak S., Buysse K., Baker C., Franke A., Malafosse A., Genton P., Thomas P. et al. PLoS Genet. 6:e1000962-e1000962(2010) · Mapped (21) |
| Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Gurnett C.A., Desruisseau D.M., McCall K., Choi R., Meyer Z.I., Talerico M., Miller S.E., Ju J.S., Pestronk A., Connolly A.M. et al. Hum. Mol. Genet. 19:1165-1173(2010) · UniProtKB (1) · Mapped (18) |
| Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. Ester A.R., Weymouth K.S., Burt A., Wise C.A., Scott A., Gurnett C.A., Dobbs M.B., Blanton S.H., Hecht J.T. Am. J. Med. Genet. A 149A:2745-2752(2009) · Mapped (39) |
| A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. Singh N.A., Pappas C., Dahle E.J., Claes L.R., Pruess T.H., De Jonghe P., Thompson J., Dixon M., Gurnett C., Peiffer A. et al. PLoS Genet. 5:E1000649-E1000649(2009) · UniProtKB (1) · Mapped (12) |
| DICER1 mutations in familial pleuropulmonary blastoma. Hill D.A., Ivanovich J., Priest J.R., Gurnett C.A., Dehner L.P., Desruisseau D., Jarzembowski J.A., Wikenheiser-Brokamp K.A., Suarez B.K., Whelan A.J. et al. |
| Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. Gurnett C.A., Alaee F., Desruisseau D., Boehm S., Dobbs M.B. Clin. Orthop. Relat. Res. 467:1195-1200(2009) · Mapped (4) |
| A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Bassuk A.G., Wallace R.H., Buhr A., Buller A.R., Afawi Z., Shimojo M., Miyata S., Chen S., Gonzalez-Alegre P., Griesbach H.L. et al. Am. J. Hum. Genet. 83:572-581(2008) · UniProtKB (1) · Mapped (12) |
| Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. Gurnett C.A., Alaee F., Kruse L.M., Desruisseau D.M., Hecht J.T., Wise C.A., Bowcock A.M., Dobbs M.B. Am. J. Hum. Genet. 83:616-622(2008) · UniProtKB (1) |
| Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation. Gurnett C.A., Veile R., Zempel J., Blackburn L., Lovett M., Bowcock A. Arch. Neurol. 65:550-553(2008) · Mapped (3) |
| Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus. Gurnett C.A., Keppel C., Bick J., Bowcock A.M., Dobbs M.B. Clin. Orthop. Relat. Res. 462:27-31(2007) · Mapped (1) |
| Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly. Gurnett C.A., Bowcock A.M., Dietz F.R., Morcuende J.A., Murray J.C., Dobbs M.B. Am. J. Med. Genet. A 143:27-32(2007) · Mapped (2) |
| Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. Ma S., Blair M.A., Abou-Khalil B., Lagrange A.H., Gurnett C.A., Hedera P. Epilepsy Res. 71:129-134(2006) · Mapped (3) |
| Beta subunit heterogeneity in N-type Ca2+ channels. Scott V.E., De Waard M., Liu H., Gurnett C.A., Venzke D.P., Lennon V.A., Campbell K.P. J. Biol. Chem. 271:3207-3212(1996) · UniProtKB (1) |
| Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice. Gurnett C.A., Kahl S.D., Anderson R.D., Campbell K.P. J. Biol. Chem. 270:9035-9038(1995) · Mapped (11) |