Richard M. Wenstrup: search on Z-Library

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1

Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

Beighton, Peter, Paepe, Anne De, Steinmann, Beat, Tsipouras, Petros, Wenstrup, Richard J.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 125 KB

english, 1998

2

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Malfait, Fransiska, Wenstrup, Richard J, De Paepe, Anne

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 370 KB

english, 2010

3

Identification of a Variety of Mutations in Cancer-Predisposition Genes in Patients With Suspected Lynch Syndrome

Yurgelun, Matthew B., Allen, Brian, Kaldate, Rajesh R., Bowles, Karla R., Judkins, Thaddeus, Kaushik, Praveen, Roa, Benjamin B., Wenstrup, Richard J., Hartman, Anne-Renee, Syngal, Sapna

Journal:

Gastroenterology

Year:

2015

Language:

english

File:

PDF, 815 KB

english, 2015

4

Body Surface Area–based Dosing of 5-Fluoruracil Results in Extensive Interindividual Variability in 5-Fluorouracil Exposure in Colorectal Cancer Patients on FOLFOX Regimens

Jennifer Saam, Gregory C. Critchfield, Stephanie A. Hamilton, Benjamin B. Roa, Richard J. Wenstrup, Rajesh R. Kaldate

Journal:

Clinical Colorectal Cancer

Year:

2011

Language:

english

File:

PDF, 233 KB

english, 2011

5

Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression

Joan M. Stoler, Bryann Bromley, Mary Ames Castro, William G. Cole, Jane Florer, Richard J. Wenstrup

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 112 KB

english, 2001

6

A genetic approach to fracture epidemiology in childhood

Brad T. Tinkle, Richard J. Wenstrup

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2005

Language:

english

File:

PDF, 205 KB

english, 2005

7

Incidence ofBRCA1andBRCA2non-founder mutations in patients of Ashkenazi Jewish ancestry

Rosenthal, Eric, Moyes, Kelsey, Arnell, Christopher, Evans, Brent, Wenstrup, Richard J.

Journal:

Breast Cancer Research and Treatment

Year:

2015

Language:

english

File:

PDF, 252 KB

english, 2015

8

Clinical validation of a gene expression signature that differentiates benign nevi from malignant melanoma

Clarke, Loren E., Warf, B.M., Flake, Darl D., Hartman, Anne-Renee, Tahan, Steven, Shea, Christopher R., Gerami, Pedram, Messina, Jane, Florell, Scott R., Wenstrup, Richard J., Rushton, Kristen, Roundy

Journal:

Journal of Cutaneous Pathology

Year:

2015

Language:

english

File:

PDF, 623 KB

english, 2015

9

Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta

Dr. Richard J. Wenstrup, Laura W. Lever, Charlotte L. Phillips, L. Darryl Quarles

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 412 KB

english, 1993

10

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia

Dr. Johan L. K. Van Hove, Priya Kishnani, Joseph Muenzer, Richard J. Wenstrup, Marshall L. Summar, Michael R. Brummond, Ave M. Lachiewicz, David S. Millington, Stephen G. Kahler

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 1.03 MB

english, 1995

11

Progress in the understanding of connective tissue disorders

Richard J. Wenstrup

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2005

Language:

english

File:

PDF, 78 KB

english, 2005

12

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer

Michael J. Hall, Julia E. Reid, Lynn A. Burbidge, Dmitry Pruss, Amie M. Deffenbaugh, Cynthia Frye, Richard J. Wenstrup, Brian E. Ward, Thomas A. Scholl, Walter W. Noll

Journal:

Year:

2009

Language:

english

File:

PDF, 208 KB

english, 2009

13

ColVa1 and ColXIa1 are required for myocardial morphogenesis and heart valve development

Joy Lincoln, Jane B. Florer, Gail H. Deutsch, Richard J. Wenstrup, Katherine E. Yutzey

Journal:

Developmental Dynamics

Year:

2006

Language:

english

File:

PDF, 733 KB

english, 2006

14

Generation and characterization of Col10a1-mcherry reporter mice

Peter Maye, Yu Fu, David L. Butler, Kumar Chokalingam, Yaling Liu, Jane Floret, Mary Louise Stover, Richard Wenstrup, Xi Jiang, Cindi Gooch, David Rowe

Journal:

Year:

2011

Language:

english

File:

PDF, 544 KB

english, 2011

15

Generation and characterization of col10a1-mcherry reporter mice

Peter Maye, Yu Fu, David L. Butler, Kumar Chokalingam, Yaling Liu, Jane Floret, Mary Louise Stover, Richard Wenstrup, Xi Jiang, Cindi Gooch, David Rowe

Journal:

Year:

2011

File:

PDF, 69 KB

2011

16

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a mild form of the disease

Matthew J. Edwards, Richard J. Wenstrup, Peter H. Byers, Daniel H. Cohn

Journal:

Year:

1992

Language:

english

File:

PDF, 657 KB

english, 1992

17

Reduced type I collagen utilization: A pathogenic mechanism in COL5A1 haplo-insufficient Ehlers–Danlos syndrome

Richard J. Wenstrup, Jane B. Florer, William G. Cole, Marcia C. Willing, David E. Birk

Journal:

Journal of Cellular Biochemistry

Year:

2004

Language:

english

File:

PDF, 317 KB

english, 2004

18

Gaucher disease: a prototype for molecular medicine

Gregory A. Grabowski, Howard M. Saal, Richard J. Wenstrup, Norman W. Barton

Journal:

Critical Reviews in Oncology/Hematology

Year:

1996

Language:

english

File:

PDF, 3.98 MB

english, 1996

19

Alignment and proliferation of MC3T3-E1 osteoblasts in microgrooved silicone substrata subjected to cyclic stretching

James H.-C Wang, Edward S Grood, Jane Florer, Richard Wenstrup

Journal:

Journal of Biomechanics

Year:

2000

Language:

english

File:

PDF, 672 KB

english, 2000

20

The Nf1 Tumor Suppressor Regulates Mouse Skin Wound Healing, Fibroblast Proliferation, and Collagen Deposited by Fibroblasts

Atit, Radhika P., Crowe, Maria J., Greenhalgh, David G., Wenstrup, Richard J., Ratner, Nancy

Journal:

The Journal of Investigative Dermatology

Year:

1999

Language:

english

File:

PDF, 607 KB

english, 1999

21

An HLA Class II Region Restriction Fragment Length Polymorphism (RFLP) in Patients with Dermatitis Herpetiformis: Association with HLA-DP Phenotype.

Hall, Russell P., Ward, Frances E., Wenstrup, Richard J.

Journal:

The Journal of Investigative Dermatology

Year:

1990

File:

PDF, 2.79 MB

1990

22

DNA Sequence Analysis and Restriction Fragment Length Polymorphism (RFLP) Typing of the HLA-DQw2 Alleles Associated with Dermatitis Herpetiformis.

Otley, Clark C., Wenstrup, Richard J., Hall, Russell P.

Journal:

The Journal of Investigative Dermatology

Year:

1991

File:

PDF, 2.65 MB

1991

23

Construction of a Full-Length Murine Proalpha2(I) Collagen cDNA by the Polymerase Chain Reaction.

Phillips, Charlotte L., Lever, Laura W., Pinnell, Sheldon R., Quarles, Leigh D., Wenstrup, Richard J.

Journal:

The Journal of Investigative Dermatology

Year:

1991

File:

PDF, 2.59 MB

1991

24

Aortic root dilatation in Ehlers-Danlos syndrome types I, II and III A report of five cases

George E. Tiller, Suzanne B. Cassidy, Christine Wensel, Richard J. Wenstrup

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 615 KB

english, 1998

25

Immunological Barriers (Opportunities?) to the Use of Bioengineered Tissue : Taking Note of the Innate Immune System

CHRISTOPHER L. KARP, RICHARD WENSTRUP, DAVID L. BUTLER

Journal:

Annals of the New York Academy of Sciences

Year:

2002

Language:

english

File:

PDF, 172 KB

english, 2002

26

Effect of Enzyme Replacement Therapy With Imiglucerase on BMD in Type 1 Gaucher Disease

Richard J Wenstrup, Katherine A Kacena, Paige Kaplan, Gregory M Pastores, Ainu Prakash-Cheng, Ari Zimran, Thomas N Hangartner

Journal:

Journal of Bone and Mineral Research

Year:

2007

Language:

english

File:

PDF, 1.12 MB

english, 2007

27

The Impact of Test Outcome Certainty on Interest in Genetic Testing Among College Women

Lisa M. Paglierani, Heidi J. Kalkwarf, Susan L. Rosenthal, Carl A. Huether, Richard J. Wenstrup

Journal:

Journal of Genetic Counseling

Year:

2003

Language:

english

File:

PDF, 73 KB

english, 2003

28

Clinical significance of large rearrangements in BRCA1 and BRCA2

Thaddeus Judkins, Eric Rosenthal, Christopher Arnell, Lynn Anne Burbidge, Wade Geary, Toby Barrus, Jeremy Schoenberger, Jeffrey Trost, Richard J. Wenstrup, Benjamin B. Roa

Journal:

Year:

2012

Language:

english

File:

PDF, 837 KB

english, 2012

29

Distinct proliferative and differentiated stages of murine MC3T3-E1 cells in culture: An in vitro model of osteoblast development

L. Darryl Quarles, Daniel A. Yohay, Laura W. Lever, Rashmi Caton, Richard J. Wenstrup

Journal:

Journal of Bone and Mineral Research

Year:

1992

Language:

english

File:

PDF, 1.36 MB

english, 1992

30

Classic EDS: Simply a type v collagen deficiency story?

Richard Wenstrup

Journal:

Year:

2012

Language:

english

File:

PDF, 65 KB

english, 2012

31

COL5a1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers—Danlos syndrome type II

Daniel S. Greenspan, Hope Northrup, Kit-Sing Au, Kimberly A. McAllister, Clair A. Francomano, Richard J. Wenstrup, Douglas A. Marchuk, David J. Kwiatkowski

Journal:

Year:

1995

Language:

english

File:

PDF, 315 KB

english, 1995

32

Characterization of the six zebrafish clade B fibrillar procollagen genes, with evidence for evolutionarily conserved alternative splicing within the pro-α1(V) C-propeptide

Guy G. Hoffman, Amanda M. Branam, Guorui Huang, Francisco Pelegri, William G. Cole, Richard M. Wenstrup, Daniel S. Greenspan

Journal:

Year:

2010

Language:

english

File:

PDF, 2.31 MB

english, 2010

33

COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS

Richard J. Wenstrup, Jane B. Florer, Marcia C. Willing, Cecilia Giunta, Beat Steinmann, Felix Young, Miki Susic, William G. Cole

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 539 KB

english, 2000

34

A Systematic Genetic Assessment of 1,433 Sequence Variants of Unknown Clinical Significance in the BRCA1 and BRCA2 Breast Cancer–Predisposition Genes

Douglas F. Easton, Amie M. Deffenbaugh, Dmitry Pruss, Cynthia Frye, Richard J. Wenstrup, Kristina Allen-Brady, Sean V. Tavtigian, Alvaro N.A. Monteiro, Edwin S. Iversen, Fergus J. Couch, David E. Gold

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 729 KB

english, 2007

35

Prevalence and Phenotypes of APC and MUTYH Mutations in Patients With Multiple Colorectal Adenomas

Grover, Shilpa, Kastrinos, Fay, Steyerberg, Ewout W., Cook, E. Francis, Dewanwala, Akriti, Burbidge, Lynn Anne, Wenstrup, Richard J., Syngal, Sapna

Journal:

JAMA The Journal of the American Medical Association

Year:

2012

Language:

english

File:

PDF, 180 KB

english, 2012

36

Hereditary breast and ovarian cancer testing: integration and outcomes within community oncology practices

Ann Eisenbraun, Richard Wenstrup, Beth Hellerstedt, Jeff Patton, Julia Reid, Lisa Sailer, Karen Copeland, Jeanne Brunger, Stephanie Hamilton, Cynthia Frye, John Sandbach

Journal:

Community Oncology

Year:

2010

Language:

english

File:

PDF, 90 KB

english, 2010

37

Female pseudohermaphroditism with anorectal, müllerian duct, and urinary tract malformations: Report of four cases

Richard J. Wenstrup, Roberta A. Pagon

Journal:

The Journal of Pediatrics

Year:

1985

Language:

english

File:

PDF, 326 KB

english, 1985

38

Reply

Roberta A. Pagon, Richard J. Wenstrup

Journal:

The Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 59 KB

english, 1986

39

Ehlers-Danlos syndrome type VI: Clinical manifestations of collagen lysyl hydroxylase deficiency

Richard J. Wenstrup, Saood Murad, Sheldon R. Pinnell

Journal:

The Journal of Pediatrics

Year:

1989

Language:

english

File:

PDF, 394 KB

english, 1989

40

Osteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity

PETER H. BYERS, JEFFREY F. BONADIO, DANIEL H. COHN, BARBRA J. STARMAN, RICHARD J. WENSTRUP, MARCIA C. WILLING

Journal:

Annals of the New York Academy of Sciences

Year:

1988

Language:

english

File:

PDF, 734 KB

english, 1988

41

General Strategies for Isolating the Genes Encoding Type I Collagen and for Characterizing Mutations Which Produce Osteogenesis Imperfecta

DANIEL H. COHN, RICHARD J. WENSTRUP, MARCIA C. WILLING, JEFFREY F. BONADIO, PETER H. BYERS

Journal:

Annals of the New York Academy of Sciences

Year:

1988

Language:

english

File:

PDF, 407 KB

english, 1988

42

Osteogenesis Imperfecta Type IV : Analysis for Mutations in α2(I) Chains of Type I Collagen by α2(I)-Specific cDNA Synthesis and Polymerase Chain Reaction

RICHARD WENSTRUP, ANNE SHRAGO, CHARLOTTE PHILLIPS, PETER BYERS, DANIEL COHN

Journal:

Annals of the New York Academy of Sciences

Year:

1990

Language:

english

File:

PDF, 205 KB

english, 1990

43

Sequence analysis of a full-length cDNA for the murine proα2(I) collagen chain: Comparison of the derived primary structure with human proα2(I) collagen

Phillips, Charlotte L., Morgan, Alan L., Lever, Laura W., Wenstrup, Richard J.

Journal:

Year:

1992

Language:

english

File:

PDF, 227 KB

english, 1992

44

Vitamin D Receptor Fok1 Polymorphism and Blood Lead Concentration in Children

Erin N. Haynes, Heidi J. Kalkwarf, Richard Hornung, Richard Wenstrup, Kim Dietrich and Bruce P. Lanphear

Journal:

Environmental Health Perspectives

Year:

2003

Language:

english

File:

PDF, 1.39 MB

english, 2003

45

Three-Dimensional In Vitro Effects of Compression and Time in Culture on Aggregate Modulus and on Gene Expression and Protein Content of Collagen Type II in Murine Chondrocytes

Chokalingam, Kumar, Hunter, Shawn, Gooch, Cynthia, Frede, Chris, Florer, Jane, Wenstrup, Richard, Butler, David

Journal:

Tissue Engineering Part A

Year:

2009

Language:

english

File:

PDF, 16.16 MB

english, 2009

46

Hereditary Cancer-Associated Mutations in Women Diagnosed with Two Primary Cancers: An Opportunity to Identify Hereditary Cancer Syndromes after the First Cancer Diagnosis

Saam, Jennifer, Moyes, Kelsey, Landon, Michelle, Williams, Kayon, Kaldate, Rajesh R., Arnell, Christopher, Wenstrup, Richard

Journal:

Year:

2015

Language:

english

File:

PDF, 130 KB

english, 2015

47

Delivery of a Hammerhead Ribozyme Specifically Downregulates Mutant Type I Collagen mRNA in a Murine Model of Osteogenesis Imperfecta

Toudjarska, Ivanka, Kilpatrick, Michael W., Niu, Junqi, Wenstrup, Richard J., Tsipouras, Petros

Journal:

Antisense and Nucleic Acid Drug Development

Year:

2001

Language:

english

File:

PDF, 306 KB

english, 2001

48

Tensile Stimulation of Murine Stem Cell–Collagen Sponge Constructs Increases Collagen Type I Gene Expression and Linear Stiffness

Chokalingam, Kumar, Juncosa-Melvin, Natalia, Hunter, Shawn A., Gooch, Cynthia, Frede, Chris, Florert, Jane, Bradica, Gino, Wenstrup, Richard, Butler, David L.

Journal:

Tissue Engineering Part A

Year:

2009

Language:

english

File:

PDF, 11.15 MB

english, 2009

49

1025. Therapeutic Effect of a Self-Cleaving Hammerhead Ribozyme in a Mouse Model of Osteogenesis Imperfecta

Peace, Belinda E., Frede, Christopher J., Florer, Jane B., Kilpatrick, Michael W., Tsipouras, Petros, Wenstrup, Richard J.

Journal:

Molecular Therapy

Year:

2006

Language:

english

File:

PDF, 98 KB

english, 2006

50

Comparison of locus-specific databases forBRCA1andBRCA2variants reveals disparity in variant classification within and among databases

Vail, Paris J., Morris, Brian, van Kan, Aric, Burdett, Brianna C., Moyes, Kelsey, Theisen, Aaron, Kerr, Iain D., Wenstrup, Richard J., Eggington, Julie M.

Journal:

Journal of Community Genetics

Year:

2015

Language:

english

File:

PDF, 385 KB

english, 2015

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