Spectrum of small mutations in the dystrophin coding region
PRIOR, T. W, BARTOLO, C, PEARL, D. K, PAPP, A. C, SNYDER, P. J, SEDRA, M. S, BURGHES, A. H. M, MENDELL, J. R
Published in American journal of human genetics (01.07.1995)
Get full text
Published in American journal of human genetics (01.07.1995)
Journal Article
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance
Keinath, Melissa C, Prior, Devin E, Prior, Thomas W
Published in Application of clinical genetics (2021)
Published in Application of clinical genetics (2021)
Get full text
Journal Article
Screening for the Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
Hampel, Heather, Frankel, Wendy L, Martin, Edward, Arnold, Mark, Khanduja, Karamjit, Kuebler, Philip, Nakagawa, Hidewaki, Sotamaa, Kaisa, Prior, Thomas W, Westman, Judith, Panescu, Jenny, Fix, Dan, Lockman, Janet, Comeras, Ilene, de la Chapelle, Albert
Published in The New England journal of medicine (05.05.2005)
Published in The New England journal of medicine (05.05.2005)
Get full text
Journal Article
Sphingosine Kinase-1 Expression Correlates With Poor Survival of Patients With Glioblastoma Multiforme: Roles of Sphingosine Kinase Isoforms in Growth of Glioblastoma Cell Lines
Van Brocklyn, James R, Jackson, Catherine A, Pearl, Dennis K, Kotur, Mark S, Snyder, Pamela J, Prior, Thomas W
Published in Journal of neuropathology and experimental neurology (01.08.2005)
Published in Journal of neuropathology and experimental neurology (01.08.2005)
Get full text
Journal Article
Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis
Sweet, Kevin, Willis, Joseph, Zhou, Xiao-Ping, Gallione, Carol, Sawada, Takeshi, Alhopuro, Pia, Khoo, Sok Kean, Patocs, Attila, Martin, Cossette, Bridgeman, Scott, Heinz, John, Pilarski, Robert, Lehtonen, Rainer, Prior, Thomas W, Frebourg, Thierry, Teh, Bin Tean, Marchuk, Douglas A, Aaltonen, Lauri A, Eng, Charis
Published in JAMA : the journal of the American Medical Association (16.11.2005)
Published in JAMA : the journal of the American Medical Association (16.11.2005)
Get full text
Journal Article
PTEN mosaicism with features of Cowden syndrome
Gammon, A, Jasperson, K, Pilarski, R, Prior, TW, Kuwada, S
Published in Clinical genetics (01.12.2013)
Published in Clinical genetics (01.12.2013)
Get full text
Journal Article
Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy
Prior, Thomas W., Bridgeman, Scott J.
Published in The Journal of molecular diagnostics : JMD (01.08.2005)
Published in The Journal of molecular diagnostics : JMD (01.08.2005)
Get full text
Journal Article
A Single Nucleotide Difference That Alters Splicing Patterns Distinguishes the SMA Gene SMN1 From the Copy Gene SMN2
Monani, Umrao R., Lorson, Christian L., Parsons, D. William, Prior, Thomas W., Androphy, Elliot J., Burghes, Arthur H. M., McPherson, John D.
Published in Human molecular genetics (01.07.1999)
Published in Human molecular genetics (01.07.1999)
Get full text
Journal Article
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, MORRIS, G. E, BURGHES, A. H. M, COOVERT, D. D, PARSONS, D. W, ANDREASSI, C, LE, T. T, JABLONKA, S, SCHRANK, B, ROSSOL, W, PRIOR, T. W
Published in Human molecular genetics (12.02.2000)
Published in Human molecular genetics (12.02.2000)
Get full text
Journal Article
Hydroxyurea enhances SMN2 gene expression in spinal muscular atrophy cells
Grzeschik, Susanna M., Ganta, Madhuri, Prior, Thomas W., Heavlin, William D., Wang, Ching H.
Published in Annals of neurology (01.08.2005)
Published in Annals of neurology (01.08.2005)
Get full text
Journal Article
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
Mailman, Matthew D., Heinz, John W., Papp, Audrey C., Snyder, Pamela J., Sedra, Mary S., Wirth, Brunhilde, Burghes, Arthur H.M., Prior, Thomas W.
Published in Genetics in medicine (01.01.2002)
Published in Genetics in medicine (01.01.2002)
Get full text
Journal Article
The Survival Motor Neuron Protein in Spinal Muscular Atrophy
Coovert, Daniel D., Le, Thanh T., McAndrew, Patricia E., Strasswimmer, John, Crawford, Thomas O., Mendell, Jerry R., Coulson, Susan E., Androphy, Elliot J., Prior, Thomas W., Burghes, Arthur H. M.
Published in Human molecular genetics (01.08.1997)
Published in Human molecular genetics (01.08.1997)
Get full text
Journal Article
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
MCANDREW, P. E, PARSONS, D. W, SIMARD, L. R, ROCHETTE, C, RAY, P. N, MENDELL, J. R, PRIOR, T. W, BURGHES, A. H. M
Published in American journal of human genetics (01.06.1997)
Published in American journal of human genetics (01.06.1997)
Get full text
Journal Article
Somatic Acquisition and Signaling of TGFBR16A in Cancer
Pasche, Boris, Knobloch, Thomas J, Bian, Yansong, Liu, Junjian, Phukan, Sharbani, Rosman, Diana, Kaklamani, Virginia, Baddi, Lisa, Siddiqui, Farida S, Frankel, Wendy, Prior, Thomas W, Schuller, David E, Agrawal, Amit, Lang, Jas, Dolan, M. Eileen, Vokes, Everett E, Lane, William S, Huang, Chiang-Ching, Caldes, Trinidad, Di Cristofano, Antonio, Hampel, Heather, Nilsson, IngMarie, von Heijne, Gunnar, Fodde, Riccardo, Murty, V. V. V. S, de la Chapelle, Albert, Weghorst, Christopher M
Published in JAMA : the journal of the American Medical Association (05.10.2005)
Published in JAMA : the journal of the American Medical Association (05.10.2005)
Get full text
Journal Article
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
Mendell, J R, Buzin, C H, Feng, J, Yan, J, Serrano, C, Sangani, D S, Wall, C, Prior, T W, Sommer, S S
Published in Neurology (28.08.2001)
Published in Neurology (28.08.2001)
Get more information
Journal Article
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.M., Prior, T.W.
Published in American journal of human genetics (01.12.1998)
Published in American journal of human genetics (01.12.1998)
Get full text
Journal Article
Myoblast Transfer in the Treatment of Duchenne's Muscular Dystrophy
Mendell, Jerry R, Kissel, John T, Amato, Anthony A, King, Wendy, Signore, Linda, Prior, Thomas W, Sahenk, Zarife, Benson, Sandra, McAndrew, Patricia E, Rice, Robert, Nagaraja, Haikady, Stephens, Ralph, Lantry, Laura, Morris, Glen E, Burghes, Arthur H.M
Published in The New England journal of medicine (28.09.1995)
Published in The New England journal of medicine (28.09.1995)
Get full text
Journal Article
Mutation Screening in Juvenile Polyposis Syndrome
Pyatt, Robert E., Pilarski, Robert, Prior, Thomas W.
Published in The Journal of molecular diagnostics : JMD (01.02.2006)
Published in The Journal of molecular diagnostics : JMD (01.02.2006)
Get full text
Journal Article