24 results for author:"Prior T.W." in Literature citations
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| Cdc25A regulates matrix metalloprotease 1 through Foxo1 and mediates metastasis of breast cancer cells. Feng X., Wu Z., Wu Y., Hankey W., Prior T.W., Li L., Ganju R.K., Shen R., Zou X. Mol. Cell. Biol. 31:3457-3471(2011) · Mapped (15) |
| Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. Pilarski R., Stephens J.A., Noss R., Fisher J.L., Prior T.W. J. Med. Genet. 48:505-512(2011) · Mapped (3) |
| A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites. Chong J.X., Oktay A.A., Dai Z., Swoboda K.J., Prior T.W., Ober C. Eur. J. Hum. Genet. 19:1045-1051(2011) · Mapped (10) |
| SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Andrabi S., Bekheirnia M.R., Robbins-Furman P., Lewis R.A., Prior T.W., Potocki L. Am. J. Med. Genet. A 155A:1165-1169(2011) · Mapped (2) |
| Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. McBride K.L., Varga E.A., Pastore M.T., Prior T.W., Manickam K., Atkin J.F., Herman G.E. Autism Res 3:137-141(2010) · Mapped (3) |
| Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Kolb S.J., Snyder P.J., Poi E.J., Renard E.A., Bartlett A., Gu S., Sutton S., Arnold W.D., Freimer M.L., Lawson V.H. et al. |
| A positive modifier of spinal muscular atrophy in the SMN2 gene. Prior T.W., Krainer A.R., Hua Y., Swoboda K.J., Snyder P.C., Bridgeman S.J., Burghes A.H., Kissel J.T. Am. J. Hum. Genet. 85:408-413(2009) · Mapped (7) |
| Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Hampel H., Frankel W., Panescu J., Lockman J., Sotamaa K., Fix D., Comeras I., La Jeunesse J., Nakagawa H., Westman J.A. et al. Cancer Res. 66:7810-7817(2006) · Mapped (52) |
| A feasibility study for the newborn screening of spinal muscular atrophy. Pyatt R.E., Prior T.W. Genet. Med. 8:428-437(2006) · Mapped (13) |
| Mutation screening in juvenile polyposis syndrome. Pyatt R.E., Pilarski R., Prior T.W. J Mol Diagn 8:84-88(2006) · Mapped (4) |
| Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Swoboda K.J., Prior T.W., Scott C.B., McNaught T.P., Wride M.C., Reyna S.P., Bromberg M.B. Ann. Neurol. 57:704-712(2005) · Mapped (3) |
| A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing. Zhou X.P., Hampel H., Roggenbuck J., Saba N., Prior T.W., Eng C. J Mol Diagn 4:114-117(2002) · Mapped (3) |
| Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Mailman M.D., Heinz J.W., Papp A.C., Snyder P.J., Sedra M.S., Wirth B., Burghes A.H., Prior T.W. Genet. Med. 4:20-26(2002) · Mapped (3) |
| Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases. Smith W.M., Zhou X.P., Kurose K., Gao X., Latif F., Kroll T., Sugano K., Cannistra S.A., Clinton S.K., Maher E.R. et al. Hum. Genet. 109:146-151(2001) · Mapped (9) |
| Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma. Chadwick R.B., Pyatt R.E., Niemann T.H., Richards S.K., Johnson C.K., Stevens M.W., Meek J.E., Hampel H., Prior T.W., de la Chapelle A. J. Med. Genet. 38:461-466(2001) · Mapped (48) |
| Over-representation of PPARgamma sequence variants in sporadic cases of glioblastoma multiforme: preliminary evidence for common low penetrance modifiers for brain tumour risk in the general population. Zhou X.P., Smith W.M., Gimm O., Mueller E., Gao X., Sarraf P., Prior T.W., Plass C., von Deimling A., Black P.M. et al. J. Med. Genet. 37:410-414(2000) · UniProtKB (1) |
| Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. Rochette C.F., Surh L.C., Ray P.N., McAndrew P.E., Prior T.W., Burghes A.H.M., Vanasse M., Simard L.R. Neurogenetics 1:141-147(1997) · UniProtKB (1) |
| The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Monani U.R., Sendtner M., Coovert D.D., Parsons D.W., Andreassi C., Le T.T., Jablonka S., Schrank B., Rossoll W., Rossol W. et al. Hum. Mol. Genet. 9:333-339(2000) · Mapped (8) |
| Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number. Parsons D.W., McAndrew P.E., Iannaccone S.T., Mendell J.R., Burghes A.H., Prior T.W. Am. J. Hum. Genet. 63:1712-1723(1998) · UniProtKB (1) |
| Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. Bartolo C., Mendell J.R., Prior T.W. Am. J. Med. Genet. 79:396-399(1998) · UniProtKB (1) |
| The survival motor neuron protein in spinal muscular atrophy. Coovert D.D., Le T.T., McAndrew P.E., Strasswimmer J., Crawford T.O., Mendell J.R., Coulson S.E., Androphy E.J., Prior T.W., Burghes A.H.M. Hum. Mol. Genet. 6:1205-1214(1997) · UniProtKB (1) |
| Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas. Welling D.B., Guida M., Goll F., Pearl D.K., Glasscock M.E., Pappas D.G., Linthicum F.H., Rogers D., Prior T.W. Hum. Genet. 98:189-193(1996) · UniProtKB (1) |
| A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient. Prior T.W., Papp A.C., Snyder P.J., Burghes A.H.M., Bartolo C., Sedra M.S., Western L.M., Mendell J.R. Nat. Genet. 4:357-360(1993) · UniProtKB (1) |
| Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16. Prior T.W., Bartolo C., Papp A.C., Snyder P.J., Sedra M.S., Burghes A.H., Mendell J.R. Hum. Mol. Genet. 3:1173-1174(1994) · UniProtKB (1) |