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Thomas Prior

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Sebastian Schwind; Stefano Volinia; Yue-Zhong Wu; Heiko Becker; Clara D Bloomfield; William Blum; Michael A Caligiuri; Andrew J Carroll; John Curfman; Paola Dal Cin; Colin G Edwards; Ann-Kathrin Eisfeld; Pia Hoellerbauer; Jessica Kohlschmidt; Jonathan E Kolitz; Richard A Larson; Kati Maharry; Guido Marcucci; Klaus Metzeler; Krzysztof Mrózek; Deedra Nicolet; Peter Paschka; Mark J Pettenati; Thomas W Prior
inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations.
Robert Pilarski; James Larry Fisher; Ryan Noss; Julie A Stephens; Thomas W Prior
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Subha V Raman; Kavita Phatak; J Chad Hoyle; Michael L Pennell; Beth McCarthy; Tam Tran; Thomas W Prior; John W Olesik; Anthony Lutton; Chelsea Rankin; John T Kissel; Roula Al-Dahhak
Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome.

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2013: Sebastian Schwind; Stefano Volinia; Yue-Zhong Wu; Heiko Becker; Clara D Bloomfield; William Blum; Michael A Caligiuri; Andrew J Carroll; John Curfman; Paola Dal Cin; Colin G Edwards; Ann-Kathrin Eisfeld; Pia Hoellerbauer; Jessica Kohlschmidt; Jonathan E Kolitz; Richard A Larson; Kati Maharry; Guido Marcucci; Klaus Metzeler; Krzysztof Mrózek; Deedra Nicolet; Peter Paschka; Mark J Pettenati; Thomas W Prior
inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations.
Blood 2013;121(2):385-91.
2011: Robert Pilarski; James Larry Fisher; Ryan Noss; Julie A Stephens; Thomas W Prior
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Journal of medical genetics 2011;48(8):505-12.
2011: Subha V Raman; Kavita Phatak; J Chad Hoyle; Michael L Pennell; Beth McCarthy; Tam Tran; Thomas W Prior; John W Olesik; Anthony Lutton; Chelsea Rankin; John T Kissel; Roula Al-Dahhak
Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome.
European heart journal 2011;32(5):561-7.
2011: John T Kissel; Kristin J Krosschell; Bernard LaSalle; Jo Anne Maczulski; Thomas W Prior; Sandra P Reyna; Mary K Schroth; Charles B Scott; Louise R Simard; Susan Sorenson; Kathryn J Swoboda; Gyula Acsadi; Mark B Bromberg; Gary M Chan; Thomas Crawford; Guy D'Anjou; Bakri Elsheik
SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy.
PloS one 2011;6(7):e21296.
2010: Thomas W Prior
Spinal muscular atrophy: a time for screening.
Current opinion in pediatrics 2010;22(6):696-702.
2010: Thomas W Prior; Pamela J Snyder; Britton D Rink; Dennis K Pearl; Robert E Pyatt; David C Mihal; Todd Conlan; Betsy Schmalz; Laura Montgomery; Katie Ziegler; Carolee Noonan; Sayaka Hashimoto; Shannon Garner
Newborn and carrier screening for spinal muscular atrophy.
American journal of medical genetics. Part A 2010;152A(7):1608-16.
2010: Elaine T Lam; Matthew D Ringel; Richard T Kloos; Thomas W Prior; Michael V Knopp; Jiachao Liang; Steffen Sammet; Nathan C Hall; Paul E Wakely; Vasyl V Vasko; Motoyasu Saji; Pamela J Snyder; Lai Wei; Daria Arbogast; Minden Collamore; John J Wright; Jeffrey F Moley; Miguel A Villalona-Calero; Manisha H Shah
Phase II clinical trial of sorafenib in metastatic medullary thyroid cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2010;28(14):2323-30.
2010: Thomas W Prior
Spinal muscular atrophy: newborn and carrier screening.
Obstetrics and gynecology clinics of North America 2010;37(1):23-36, Table of Contents.
2010: Thomas W Prior
Perspectives and diagnostic considerations in spinal muscular atrophy.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(3):145-52.
2010: S J Kolb; Pamela J Snyder; E J Poi; E A Renard; A Bartlett; S Gu; S Sutton; W D Arnold; Miriam L Freimer; V H Lawson; John T Kissel; Thomas W Prior
Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach.
Neurology 2010;74(6):502-6.
2010: Kathryn J Swoboda; Charles B Scott; Thomas Crawford; Louise R Simard; Sandra P Reyna; Kristin J Krosschell; Gyula Acsadi; Bakri Elsheik; Mary K Schroth; Guy D'Anjou; Bernard LaSalle; Thomas W Prior; Susan L Sorenson; Jo Anne Maczulski; Mark B Bromberg; Gary M Chan; John T Kissel
SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy.
PloS one 2010;5(8):e12140.
2009: Bakri Elsheikh; Thomas W Prior; Xiaoli Zhang; Robert Miller; Stephen J Kolb; Dan Moore; Walter G Bradley; Richard J Barohn; Wilson Bryan; Deborah Gelinas; Susan Iannaccone; Robert Leshner; Jerry R Mendell; Michelle Mendoza; Barry S Russman; Stephen Smith; W King; John T Kissel
An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy.
Muscle & nerve 2009;40(4):652-6.
2009: Thomas W Prior; Adrian R Krainer; Yimin Hua; Kathryn J Swoboda; Pamela C Snyder; Scott J Bridgeman; Arthur H M Burghes; John T Kissel
A positive modifier of spinal muscular atrophy in the SMN2 gene.
American journal of human genetics 2009;85(3):408-13.
2009: Thomas W Prior
Technical standards and guidelines for myotonic dystrophy type 1 testing.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(7):552-5.
2009: Kathryn J Swoboda; Charles B Scott; Sandra P Reyna; Thomas W Prior; Bernard LaSalle; Susan L Sorenson; Janine Wood; Gyula Acsadi; Thomas Crawford; John T Kissel; Kristin J Krosschell; Guy D'Anjou; Mark B Bromberg; Mary K Schroth; Gary M Chan; Bakri Elsheikh; Louise R Simard
Phase II open label study of valproic acid in spinal muscular atrophy.
PloS one 2009;4(5):e5268.
2008: Heather Hampel; Wendy L Frankel; Edward Martin; Mark Arnold; Karamjit Khanduja; Philip Kuebler; Mark Clendenning; Kaisa Sotamaa; Thomas W Prior; Judith A Westman; Jenny Panescu; Dan Fix; Janet Lockman; Jennifer LaJeunesse; Ilene Comeras; Albert de La Chapelle
Feasibility of screening for Lynch syndrome among patients with colorectal cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2008;26(35):5783-8.
2008: Thomas W Prior
Carrier screening for spinal muscular atrophy.
Genetics in medicine : official journal of the American College of Medical Genetics 2008;10(11):840-2.
2008: Jean Amos Wilson; Victoria M Pratt; Amit R Phansalkar; Kasinathan Muralidharan; W Edward Highsmith; Jeanne C Beck; Scott Bridgeman; Ebony M Courtney; Lidia Epp; Andrea Ferreira-Gonzalez; Nick L Hjelm; Leonard M Holtegaard; Mohamed Jama; John Jakupciak; Monique A Johnson; Paul Labrousse; Elaine Lyon; Thomas W Prior; Carolyn S (Sue) Richards; Kristy L Richie; Benjamin B Roa; Elizabeth M Rohlfs; Tina Sellers; Stephanie L Sherman; Karen A Siegrist; Lawrence M Silverman; Joanna Wiszniewska; Lisa V Kalman
Consensus characterization of 16 FMR1 reference materials: a consortium study.
The Journal of molecular diagnostics : JMD 2008;10(1):2-12.
2007: Robert E Pyatt; David C Mihal; Thomas W Prior
Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy.
Clinical chemistry 2007;53(11):1879-85.
2007: Heather Hampel; Jenny Panescu; Janet Lockman; Kaisa Sotamaa; Daniel Fix; Ilene Comeras; Jennifer LaJeunesse; Hidewaki Nakagawa; Judith A Westman; Thomas W Prior; Mark Clendenning; Albert de La Chapelle; Wendy Frankel; Pamela Penzone; David E Cohn; Larry Copeland; Lynne Eaton; Jeffrey Fowler; Janet Lombardi; Patti Dunn; Jeffrey Bell; Gary Reid; George Lewandowski; Luis Vaccarello
Comment on: Screening for Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) among Endometrial Cancer Patients.
Cancer research 2007;67(19):9603.
2007: Thomas W Prior
Spinal muscular atrophy diagnostics.
Journal of child neurology 2007;22(8):952-6.
2007: Gail E Herman; Eric Butter; Benedicta G Enrile; Matthew Pastore; Thomas W Prior; Annemarie Sommer
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
American journal of medical genetics. Part A 2007;143(6):589-93.
2007: Louise R Simard; M-C Bélanger; S Morissette; Mark C Wride; Thomas W Prior; Kathryn J Swoboda
Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA.
Neurology 2007;68(6):451-6.
2006: Heather Hampel; Wendy Frankel; Jenny Panescu; Janet Lockman; Kaisa Sotamaa; Daniel Fix; Ilene Comeras; Jennifer La Jeunesse; Hidewaki Nakagawa; Judith A Westman; Thomas W Prior; Mark Clendenning; Pamela Penzone; Janet Lombardi; Patti Dunn; David E Cohn; Larry Copeland; Lynne Eaton; Jeffrey Fowler; George Lewandowski; Luis Vaccarello; Jeffrey Bell; Gary Reid; Albert de La Chapelle
Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.
Cancer research 2006;66(15):7810-7.
2006: Janet L Oblinger; Dennis K Pearl; C L Boardman; HE Saqr; Thomas W Prior; B W Scheithauer; R B Jenkins; Peter C Burger; Allan J Yates
Diagnostic and prognostic value of glycosyltransferase mRNA in glioblastoma multiforme patients.
Neuropathology and applied neurobiology 2006;32(4):410-8.
2006: Robert E Pyatt; Thomas W Prior
A feasibility study for the newborn screening of spinal muscular atrophy.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(7):428-37.
2006: Robert E Pyatt; Robert Pilarski; Thomas W Prior
Mutation screening in juvenile polyposis syndrome.
The Journal of molecular diagnostics : JMD 2006;8(1):84-8.
2005: Kevin Sweet; Joseph Willis; Xiao-Ping Zhou; Carol J Gallione; Takeshi Sawada; Pia Alhopuro; Sok Kean Khoo; Attila Patocs; Cossette Martin; Scott Bridgeman; John W Heinz; Robert Pilarski; Rainer Lehtonen; Thomas W Prior; Thierry Frebourg; Bin Tean Teh; Douglas A Marchuk; Lauri A Aaltonen; Charis Eng
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
JAMA : the journal of the American Medical Association 2005;294(19):2465-73.
2005: Boris Pasche; Thomas J Knobloch; Yansong Bian; Junjian Liu; Sharbani Phukan; Diana Rosman; Virginia G Kaklamani; Lisa Baddi; Farida S Siddiqui; Wendy Frankel; Thomas W Prior; David E Schuller; Amit Agrawal; Jas Lang; M Eileen Dolan; Everett E Vokes; William Stratton Lane; Chiang-Ching Huang; Trinidad Caldes; Antonio Di Cristofano; Heather Hampel; IngMarie Nilsson; Gunnar von Heijne; Riccardo Fodde; Vundavalli Murty; Albert de La Chapelle; Christopher M Weghorst
Somatic acquisition and signaling of TGFBR1*6A in cancer.
JAMA : the journal of the American Medical Association 2005;294(13):1634-46.
2005: James R Van Brocklyn; Catherine A Jackson; Dennis K Pearl; Mark S Kotur; Pamela J Snyder; Thomas W Prior
Sphingosine kinase-1 expression correlates with poor survival of patients with glioblastoma multiforme: roles of sphingosine kinase isoforms in growth of glioblastoma cell lines.
Journal of neuropathology and experimental neurology 2005;64(8):695-705.
2005: Thomas W Prior; Scott J Bridgeman
Experience and strategy for the molecular testing of Duchenne muscular dystrophy.
The Journal of molecular diagnostics : JMD 2005;7(3):317-26.
2005: Heather Hampel; Wendy L Frankel; Edward Martin; Mark Arnold; Karamjit Khanduja; Philip Kuebler; Hidewaki Nakagawa; Kaisa Sotamaa; Thomas W Prior; Judith A Westman; Jenny Panescu; Daniel Fix; Janet Lockman; Ilene Comeras; Albert de La Chapelle
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
The New England journal of medicine 2005;352(18):1851-60.
2005: Kathryn J Swoboda; Thomas W Prior; Charles B Scott; Teresa P McNaught; Mark C Wride; Sandra P Reyna; Mark B Bromberg
Natural history of denervation in SMA: relation to age, SMN2 copy number, and function.
Annals of neurology 2005;57(5):704-12.
2004: Thomas W Prior; Kathryn J Swoboda; H Denman Scott; Ashley Q Hejmanowski
Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2.
American journal of medical genetics. Part A 2004;130A(3):307-10.
2003: Robert E Pyatt; Hidewaki Nakagawa; Heather Hampel; Mary S Sedra; M B Fuchik; Ilene Comeras; Albert de La Chapelle; Thomas W Prior
Identification of a deletion in the mismatch repair gene, MSH2, using mouse-human cell hybrids monosomal for chromosome 2.
Clinical genetics 2003;63(3):215-8.
2003: Chang-Yong Tsao; Gail Herman; Daniel R Boué; Thomas W Prior; Warren D Lo; Joan F Atkin; Jerome A Rusin
Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.
Journal of child neurology 2003;18(1):62-4.
2003: Thomas W Prior
Determination of gene dosage. Utilization of endogenous and exogenous internal standards.
Methods in molecular biology (Clifton, N.J.) 2003;217():3-12.
2002: Xiao-Ping Zhou; Heather Hampel; Jennifer Roggenbuck; Nabil Saba; Thomas W Prior; Charis Eng
A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing.
The Journal of molecular diagnostics : JMD 2002;4(2):114-7.
2002: Susan Zeesman; Donald T Whelan; Nancy Carson; Jean McGowan-Jordan; Tracy L Stockley; Peter N Ray; Thomas W Prior
Parents of children with spinal muscular atrophy are not obligate carriers: carrier testing is important for reproductive decision-making.
American journal of medical genetics 2002;107(3):247-9.
2002: Matthew D Mailman; John W Heinz; Audrey C Papp; Pamela J Snyder; Mary S Sedra; Brunhilde Wirth; Arthur H M Burghes; Thomas W Prior
Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(1):20-6.
2001: Jerry R Mendell; Carolyn H Buzin; Jinong Feng; Jin Yan; C Serrano; D S Sangani; C Wall; Thomas W Prior; Steve S Sommer
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations.
Neurology 2001;57(4):645-50.
2001: W M Smith; Xiao-Ping Zhou; Keisuke Kurose; X Gao; F Latif; T Kroll; K Sugano; S A Cannistra; S K Clinton; E R Maher; Thomas W Prior; Charis Eng
Opposite association of two PPARG variants with cancer: overrepresentation of H449H in endometrial carcinoma cases and underrepresentation of P12A in renal cell carcinoma cases.
Human genetics 2001;109(2):146-51.
2001: RB Chadwick; Robert E Pyatt; Theodore H Niemann; S K Richards; CK Johnson; MW Stevens; JE Meek; Heather Hampel; Thomas W Prior; Albert de La Chapelle
Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma.
Journal of medical genetics 2001;38(7):461-6.
2001: Carl D Morrison; Audrey C Papp; Ashley Q Hejmanowski; V M Addis; Thomas W Prior
Increased D allele frequency of the angiotensin-converting enzyme gene in pulmonary fibrosis.
Human pathology 2001;32(5):521-8.
2001: Krzysztof Mrózek; Thomas W Prior; C Edwards; Guido Marcucci; Andrew J Carroll; Pamela J Snyder; Prasad R K Koduru; Karl S Theil; Mark J Pettenati; Kellie J Archer; Michael A Caligiuri; James W Vardiman; Jonathan E Kolitz; Richard A Larson; Clara D Bloomfield
Comparison of cytogenetic and molecular genetic detection of t(8;21) and inv(16) in a prospective series of adults with de novo acute myeloid leukemia: a Cancer and Leukemia Group B Study.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2001;19(9):2482-92.
2001: Matthew D Mailman; T Hemingway; R L Darsey; C E Glasure; Y Huang; R B Chadwick; John W Heinz; Audrey C Papp; Pamela J Snyder; Mary S Sedra; R W Schafer; D N Abuelo; E W Reich; Karl S Theil; Arthur H M Burghes; Albert de La Chapelle; Thomas W Prior
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
Human genetics 2001;108(2):109-15.
2000: RB Chadwick; JE Meek; Thomas W Prior; Paivi Peltomaki; Albert de La Chapelle
Polymorphisms in a pseudogene highly homologous to PMS2.
Human mutation 2000;16(6):530.
2000: Dmitry Y Baschinsky; A Isa; Theodore H Niemann; Thomas W Prior; Joel G Lucas; Wendy L Frankel
Diffuse leiomyomatosis of the uterus: a case report with clonality analysis.
Human pathology 2000;31(11):1429-32.
2000: Xiao-Ping Zhou; W M Smith; Oliver Gimm; E Mueller; X Gao; pasha sarraf; Thomas W Prior; Christoph Plass; A von Deimling; P M Black; A J Yates; Charis Eng
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.
Journal of medical genetics 2000;37(6):410-4.
2000: T E Gorman; CJ Julius; R F Barth; A Ng; MS Kennedy; Thomas W Prior; James Allen; Larry C Lasky
Transfusion-associated graft-vs-host disease. A fatal case caused by blood from an unrelated HLA homozygous donor.
American journal of clinical pathology 2000;113(5):732-7.
2000: Clement Adebamowo; OA Adeyi; Robert E Pyatt; Thomas W Prior; RB Chadwick; Albert de La Chapelle
Case report on hereditary non-polyposis colon cancer (HNPCC) in Nigeria.
African journal of medicine and medical sciences 2000;29(1):71-3.
2000: Umrao R Monani; Michael Sendtner; Daniel D Coovert; DONALD PARSONS; Catia Andreassi; Thanh T Le; Sibylle Jablonka; B Schrank; wilfried rossoll; W Rossol; Thomas W Prior; Glenn E Morris; Arthur H M Burghes
The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy.
Human molecular genetics 2000;9(3):333-9.
1999: Robert E Pyatt; RB Chadwick; CK Johnson; Clement Adebamowo; Albert de La Chapelle; Thomas W Prior
Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing.
The American journal of pathology 1999;155(2):349-53.
1999: Umrao R Monani; Christian L Lorson; DONALD PARSONS; Thomas W Prior; Elliot J Androphy; Arthur H M Burghes; J D McPherson
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.
Human molecular genetics 1999;8(7):1177-83.
1999: T E Gorman; A N Arcot; P Baker; Thomas W Prior; John T Brandt
Prevalence of the factor VLeiden mutation among autopsy patients with pulmonary thromboembolic disease using an improved method for factor VLeiden detection.
American journal of clinical pathology 1999;111(3):413-7.
1999: Matthew D Mailman; Peter Muscarella; WJ Schirmer; E Christopher Ellison; Thomas M O'Dorisio; Thomas W Prior
Identification of MEN1 mutations in sporadic enteropancreatic neuroendocrine tumors by analysis of paraffin-embedded tissue.
Clinical chemistry 1999;45(1):29-34.
1999: Thomas W Prior; R B Chadwick; Audrey C Papp; A N Arcot; A M Isa; Dennis K Pearl; G Stemmermann; Antonio Percesepe; Anu Loukola; Lauri A Aaltonen; Albert de La Chapelle
The I1307K polymorphism of the APC gene in colorectal cancer.
Gastroenterology 1999;116(1):58-63.
1998: DONALD PARSONS; PE McAndrew; S T Iannaccone; Jerry R Mendell; Arthur H M Burghes; Thomas W Prior
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
American journal of human genetics 1998;63(6):1712-23.
1998: C Bartolo; Jerry R Mendell; Thomas W Prior
Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.
American journal of medical genetics 1998;79(5):396-9.
1998: DONALD PARSONS; PE McAndrew; PS Allinson; W D Parker; Arthur H M Burghes; Thomas W Prior
Diagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysis.
Journal of medical genetics 1998;35(8):674-6.
1998: C Bartolo; PE McAndrew; RC Sosolik; Kaelin Cawley; Stanley P Balcerzak; John T Brandt; Thomas W Prior
Differential diagnosis of hereditary hemochromatosis from other liver disorders by genetic analysis: gene mutation analysis of patients previously diagnosed with hemochromatosis by liver biopsy.
Archives of pathology & laboratory medicine 1998;122(7):633-7.
1997: Camille Rochette; L C Surh; Peter N Ray; PE McAndrew; Thomas W Prior; Arthur H M Burghes; Michel Vanasse; Louise R Simard
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.
Neurogenetics 1997;1(2):141-7.
1997: Daniel D Coovert; Thanh T Le; PE McAndrew; J Strasswimmer; Thomas Crawford; Jerry R Mendell; S E Coulson; Elliot J Androphy; Thomas W Prior; Arthur H M Burghes
The survival motor neuron protein in spinal muscular atrophy.
Human molecular genetics 1997;6(8):1205-14.
1997: PE McAndrew; DONALD PARSONS; Louise R Simard; Camille Rochette; Peter N Ray; Jerry R Mendell; Thomas W Prior; Arthur H M Burghes
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.
American journal of human genetics 1997;60(6):1411-22.
1997: Thomas W Prior; C Bartolo; Audrey C Papp; Pamela J Snyder; Mary S Sedra; Arthur H M Burghes; John T Kissel; Mark Luquette; Chang-Yong Tsao; Jerry R Mendell
Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion.
Neurology 1997;48(2):486-8.
1997: C J DiDonato; S E Ingraham; Jerry R Mendell; Thomas W Prior; S Lenard; Richard T Moxley; Julaine Florence; Arthur H M Burghes
Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity?
Annals of neurology 1997;41(2):230-7.
1996: DONALD PARSONS; PE McAndrew; Umrao R Monani; Jerry R Mendell; Arthur H M Burghes; Thomas W Prior
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.
Human molecular genetics 1996;5(11):1727-32.
1996: M Guida; R G Fenwick; Audrey C Papp; P J Snyder; M Sedra; Thomas W Prior
Southern transfer protocol for confirmation of Huntington disease.
Clinical chemistry 1996;42(10):1711-2.
1996: D Bradley Welling; M Guida; F Goll; D K Pearl; Michael E Glasscock; D G Pappas; F H Linthicum; D Rogers; Thomas W Prior
Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas.
Human genetics 1996;98(2):189-93.
1996: PE McAndrew; John T Brandt; D K Pearl; Thomas W Prior
The incidence of the gene for thermolabile methylene tetrahydrofolate reductase in African Americans.
Thrombosis research 1996;83(2):195-8.
1996: C Bartolo; Audrey C Papp; P J Snyder; M S Sedra; Arthur H M Burghes; C D Hall; Jerry R Mendell; Thomas W Prior
A novel splice site mutation in a Becker muscular dystrophy patient.
Journal of medical genetics 1996;33(4):324-7.
1996: Thomas W Prior; C Bartolo; Audrey C Papp; P J Snyder; M S Sedra; Arthur H M Burghes; Jerry R Mendell
Nonsense mutations in a Becker muscular dystrophy and an intermediate patient.
Human mutation 1996;7(1):72-5.
1995: Thomas W Prior
Perspectives and molecular diagnosis of Duchenne and Becker muscular dystrophies.
Clinics in laboratory medicine 1995;15(4):927-41.
1995: Jerry R Mendell; John T Kissel; Anthony A Amato; W King; L Signore; Thomas W Prior; Zarife Sahenk; S Benson; PE McAndrew; R Rice
Myoblast transfer in the treatment of Duchenne's muscular dystrophy.
The New England journal of medicine 1995;333(13):832-8.
1995: Thomas W Prior; C Bartolo; D K Pearl; Audrey C Papp; P J Snyder; M S Sedra; Arthur H M Burghes; Jerry R Mendell
Spectrum of small mutations in the dystrophin coding region.
American journal of human genetics 1995;57(1):22-33.
1995: Jerry R Mendell; Zarife Sahenk; Thomas W Prior
The childhood muscular dystrophies: diseases sharing a common pathogenesis of membrane instability.
Journal of child neurology 1995;10(2):150-9.
1995: Thomas W Prior; Audrey C Papp; P J Snyder; M S Sedra; M Guida; B G Enrile
Germline mosaicism at the fragile X locus.
American journal of medical genetics 1995;55(3):384-6.
1995: Alissa V Winnard; Jerry R Mendell; Thomas W Prior; Julaine Florence; Arthur H M Burghes
Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production.
American journal of human genetics 1995;56(1):158-66.
1995: M Guida; R S Marger; Audrey C Papp; P J Snyder; M S Sedra; John T Kissel; Jerry R Mendell; Thomas W Prior
A molecular protocol for diagnosing myotonic dystrophy.
Clinical chemistry 1995;41(1):69-72.
1995: Thomas W Prior; G D Wenger; Audrey C Papp; P J Snyder; M S Sedra; C Bartolo; J W Moore; W Edward Highsmith
Rapid DNA haplotyping using a multiplex heteroduplex approach: application to Duchenne muscular dystrophy carrier testing.
Human mutation 1995;5(3):263-8.
1994: D Bradley Welling; R L Daniels; J Brainard; L M Western; Thomas W Prior
Detection of viral DNA in endolymphatic sac tissue from Menière's disease patients.
The American journal of otology 1994;15(5):639-43.
1994: Thomas W Prior; C Bartolo; Audrey C Papp; P J Snyder; M S Sedra; Arthur H M Burghes; Jerry R Mendell
Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16.
Human molecular genetics 1994;3(7):1173-4.
1994: J A Brainard; Joel K Greenson; C J Vesy; RJ Tesi; A C Papp; P J Snyder; L Western; Thomas W Prior
Detection of cytomegalovirus in liver transplant biopsies. A comparison of light microscopy, immunohistochemistry, duplex PCR and nested PCR.
Transplantation 1994;57(12):1753-7.
1994: Thomas W Prior; Audrey C Papp; P J Snyder; M S Sedra; L M Western; C Bartolo; Richard T Moxley; Jerry R Mendell
Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detection.
American journal of medical genetics 1994;50(1):68-73.
1993: Thomas W Prior; Audrey C Papp; P J Snyder; M S Sedra
Detection of an exon 53 polymorphism in the dystrophin gene.
Human genetics 1993;92(3):302-4.
1993: Thomas W Prior; Audrey C Papp; P J Snyder; Arthur H M Burghes; C Bartolo; M S Sedra; L M Western; Jerry R Mendell
A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
Nature genetics 1993;4(4):357-60.
1993: Alissa V Winnard; C J Klein; D D Coovert; Thomas W Prior; Audrey C Papp; P Snyder; D E Bulman; Peter N Ray; PE McAndrew; W King
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.
Human molecular genetics 1993;2(6):737-44.
1993: Anthony A Amato; Thomas W Prior; Richard J Barohn; P Snyder; Audrey C Papp; Jerry R Mendell
Kennedy's disease: a clinicopathologic correlation with mutations in the androgen receptor gene.
Neurology 1993;43(4):791-4.
1993: Thomas W Prior; Audrey C Papp; P J Snyder; Arthur H M Burghes; M S Sedra; L M Western; C Bartello; Jerry R Mendell
Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation.
Human molecular genetics 1993;2(3):311-3.
1993: C J Vesy; Joel K Greenson; A C Papp; P J Snyder; S J Qualman; Thomas W Prior
Evaluation of celiac disease biopsies for adenovirus 12 DNA using a multiplex polymerase chain reaction.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 1993;6(1):61-4.
1993: Thomas W Prior; Audrey C Papp; P J Snyder; Arthur H M Burghes; M S Sedra; L M Western; C Bartolo; Jerry R Mendell
Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis.
Human mutation 1993;2(3):192-5.
1992: Thomas W Prior; Audrey C Papp; P J Snyder; Arthur H M Burghes; B H Wallace
A HindIII/BglII dystrophin gene polymorphism in the African-American population.
Human genetics 1992;89(6):687-8.
1992: Thomas W Prior; Audrey C Papp; P J Snyder; Jerry R Mendell
Case of the month: germline mosaicism in carriers of Duchenne muscular dystrophy.
Muscle & nerve 1992;15(8):960-3.
1992: K F Forsthoefel; Audrey C Papp; P J Snyder; Thomas W Prior
Optimization of DNA extraction from formalin-fixed tissue and its clinical application in Duchenne muscular dystrophy.
American journal of clinical pathology 1992;98(1):98-104.
1991: Thomas W Prior
Genetic analysis of the Duchenne muscular dystrophy gene.
Archives of pathology & laboratory medicine 1991;115(10):984-90.
1990: Thomas W Prior; Audrey C Papp; P J Snyder; W Edward Highsmith; Kenneth Friedman; T R Perry; Lawrence M Silverman; Jerry R Mendell
Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides.
Clinical chemistry 1990;36(12):2113-7.
1990: Thomas W Prior; W Edward Highsmith; Kenneth Friedman; T R Perry; G Scheuerbrandt; Lawrence M Silverman
A model for molecular screening of newborns: simultaneous detection of Duchenne/Becker muscular dystrophies and cystic fibrosis.
Clinical chemistry 1990;36(10):1756-9.
1990: Kenneth Friedman; W Edward Highsmith; Thomas W Prior; T R Perry; Lawrence M Silverman
Cystic fibrosis deletion mutation detected by PCR-mediated site-directed mutagenesis.
Clinical chemistry 1990;36(4):695-6.
1990: Thomas W Prior; Kenneth Friedman; W Edward Highsmith; T R Perry; Lawrence M Silverman
Molecular probe protocol for determining carrier status in Duchenne and Becker muscular dystrophies.
Clinical chemistry 1990;36(3):441-5.
1989: Thomas W Prior; Kenneth Friedman; Lawrence M Silverman
Detection of Duchenne/Becker muscular dystrophy carriers by densitometric scanning.
Clinical chemistry 1989;35(6):1256-7.
1989: W Edward Highsmith; T R Perry; Thomas W Prior; Lawrence M Silverman
Use of the polymerase chain reaction for simultaneous analysis of two Pst I polymorphisms linked to cystic fibrosis.
Clinical chemistry 1989;35(6):1260-1.
1989: Thomas W Prior; Kenneth Friedman; Lawrence M Silverman
RFLP for HindIII at the Duchenne muscular dystrophy gene.
Nucleic acids research 1989;17(6):2370.