WENSTRUP, RICHARD J.: 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

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

Vitamin D receptor Fok1 polymorphism and blood lead concentration in children.

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

Journal:

Environmental Health Perspectives

Year:

2003

Language:

english

File:

PDF, 123 KB

english, 2003

14

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

15

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

16

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

17

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

18

Patients Tested at a Laboratory for Hereditary Cancer Syndromes Show an Overlap for Multiple Syndromes in Their Personal and Familial Cancer Histories

Saam, Jennifer, Arnell, Christopher, Theisen, Aaron, Moyes, Kelsey, Marino, Ingrid, Roundy, Kirstin M., Wenstrup, Richard J.

Journal:

Year:

2015

Language:

english

File:

PDF, 352 KB

english, 2015

19

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

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

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

22

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

23

Analytical validation of a melanoma diagnostic gene signature using formalin-fixed paraffin-embedded melanocytic lesions

Warf, M Bryan, Flake, Darl D, Adams, Doug, Gutin, Alexander, Kolquist, Kathryn A, Wenstrup, Richard J, Roa, Benjamin B

Journal:

Biomarkers in Medicine

Year:

2015

Language:

english

File:

PDF, 1.29 MB

english, 2015

24

Reply

Roberta A. Pagon, Richard J. Wenstrup

Journal:

The Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 59 KB

english, 1986

25

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

26

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

27

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

28

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

29

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

30

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

31

Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history

Chaffee, Kari G, Oberg, Ann L, McWilliams, Robert R, Majithia, Neil, Allen, Brian A, Kidd, John, Singh, Nanda, Hartman, Anne-Renee, Wenstrup, Richard J, Petersen, Gloria M

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 191 KB

english, 2017

32

[ASME ASME 2008 Summer Bioengineering Conference - Marco Island, Florida, USA (Wednesday 25 June 2008)] ASME 2008 Summer Bioengineering Conference, Parts A and B - Col1 and Col2 Gene Expression During the Development of Murine Knee Joints

Chokalingam, Kumar, Frede, Chris, Florer, Jane L., Wenstrup, Richard J., Butler, David L.

Year:

2008

Language:

english

File:

PDF, 227 KB

english, 2008

33

Targeted Deletion of Collagen V in Tendons and Ligaments Results in a Classic Ehlers-Danlos Syndrome Joint Phenotype

Sun, Mei, Connizzo, Brianne K., Adams, Sheila M., Freedman, Benjamin R., Wenstrup, Richard J., Soslowsky, Louis J., Birk, David E.

Journal:

The American Journal of Pathology

Year:

2015

Language:

english

File:

PDF, 3.31 MB

english, 2015

34

Aluminum-Induced Mitogenesis in MC3T3-E1 Osteoblasts: Potential Mechanism Underlying Neoosteogenesis*

QUARLES, L. DARRYL, WENSTRUP, RICHARD J., CASTILLO, STEVEN A., DREZNER, MARC K.

Journal:

Year:

1991

Language:

english

File:

PDF, 1.12 MB

english, 1991

35

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

36

Classic EDS: Simply a type v collagen deficiency story?

Richard Wenstrup

Journal:

Year:

2012

Language:

english

File:

PDF, 65 KB

english, 2012

37

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

38

Genotypic and Phenotypic Correlations of DFNB1-Related Hearing Impairment in the Midwestern United States

Lim, Lynne H. Y., Bradshaw, John K., Guo, Yingshi, Pilipenko, Valentina, Madden, Colm, Ingala, David, Keddache, Mehdi, Choo, Daniel I., Wenstrup, Richard, Greinwald, John H.

Journal:

Archives of Otolaryngology - Head and Neck Surgery

Year:

2003

Language:

english

File:

PDF, 90 KB

english, 2003

39

Defective Proα2(I) Collagen Synthesis in a Recessive Mutation in Mice: A Model of Human Osteogenesis Imperfecta

Stewart D. Chipman, Hope O. Sweet, Daniel J. McBride, Jr., Muriel T. Davisson, Sandy C. Marks, Jr., Alan R. Shuldiner, Richard J. Wenstrup, David W. Rowe and Jay R. Shapiro

Journal:

Proceedings of the National Academy of Sciences

Year:

1993

Language:

english

File:

PDF, 1.20 MB

english, 1993

40

Structural Abnormalities of the Cornea and Lid Resulting from Collagen V Mutations

Segev, Fani, He´on, Elise, Cole, William G., Wenstrup, Richard J., Young, Felix, Slomovic, Allan R., Rootman, David S., Whitaker-Menezes, Diana, Chervoneva, Inna, Birk, David E.

Journal:

Investigative Ophthalmology & Visual Science

Year:

2006

Language:

english

File:

PDF, 529 KB

english, 2006

41

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

42

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

43

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

44

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

45

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

46

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

47

Reply to the letter to the editor by Marc Williams

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

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 78 KB

english, 2011

48

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

49

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

50

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

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