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1

Revised diagnostic criteria for the Marfan syndrome

De Paepe, Anne, Devereux, Richard B., Dietz, Harry C., Hennekam, Raoul C. M., Pyeritz, Reed E.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 955 KB

english, 1996

2

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Dietz, Harry C., Cutting, Carry R., Pyeritz, Reed E., Maslen, Cheryl L., Sakai, Lynn Y, Corson, Glen M, Puffenberger, Erik G., Hamosh, Ada, Nanthakumar, Elizabeth J., Curristin, Sheila M.

Journal:

Year:

1991

File:

PDF, 453 KB

1991

3

Infantile Scoliosis in Marfan Syndrome

Sponseller, Paul D., Sethi, Navin, Cameron, Duke E., Pyeritz, Reed E.

Journal:

Year:

1997

File:

PDF, 28.58 MB

1997

4

Plasma exchange removes glycosphingolipid in Fabry disease

Reed E. Pyeritz, M. David Ullman, Ann B. Moser, Hayden G. Braine, Hugo W. Moser, John M. Optiz

Journal:

American Journal of Medical Genetics Part A

Year:

1980

Language:

english

File:

PDF, 393 KB

english, 1980

5

Homeostasis VII. A conspectus

Dr. Edmond A. Murphy, Reed E. Pyeritz, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 1.18 MB

english, 1986

6

Marfan syndrome: Neuropsychological aspects

Karen J. Hofman, Barbara A. Bernhardt, Dr. Reed E. Pyeritz, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 500 KB

english, 1988

7

First international symposium on the Marfan syndrome

Dr. Reed E. Pyeritz

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 623 KB

english, 1989

8

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

Dong-Chuan Guo, Christina L. Papke, Van Tran-Fadulu, Ellen S. Regalado, Nili Avidan, Ralph Jay Johnson, Dong H. Kim, Hariyadarshi Pannu, Marcia C. Willing, Elizabeth Sparks, Reed E. Pyeritz, Michael N

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.42 MB

english, 2009

9

The Marfan Syndrome

Pyeritz, Reed E.

Journal:

Annual Review of Medicine

Year:

2000

Language:

english

File:

PDF, 156 KB

english, 2000

10

“What does it mean?”: Uncertainties in understanding results of chromosomal microarray testing

Reiff, Marian, Bernhardt, Barbara A., Mulchandani, Surabhi, Soucier, Danielle, Cornell, Diana, Pyeritz, Reed E., Spinner, Nancy B.

Journal:

Genetics in Medicine

Year:

2012

Language:

english

File:

PDF, 318 KB

english, 2012

11

Incorporating direct-to-consumer genomic information into patient care: attitudes and experiences of primary care physicians

Bernhardt, Barbara A, Zayac, Cara, Gordon, Erynn S, Wawak, Lisa, Pyeritz, Reed E, Gollust, Sarah E

Journal:

Personalized Medicine

Year:

2012

Language:

english

File:

PDF, 903 KB

english, 2012

12

Disorders of Vascular Fragility

Pyeritz, Reed E., Thompson, Paul D.

Journal:

The Physician and Sportsmedicine

Year:

2001

Language:

english

File:

PDF, 3.05 MB

english, 2001

13

The Cervical Spine in Marfan Syndrome

Hobbs, William R., Sponseller, Paul D., Weiss, Arnold-Peter C., Pyeritz, Reed E.

Journal:

Year:

1997

File:

PDF, 25.62 MB

1997

14

Atlantoaxial Rotatory Subluxation in Patients With Marfan Syndrome

Herzka, Andrea, Sponseller, Paul D., Pyeritz, Reed E.

Journal:

Year:

2000

Language:

english

File:

PDF, 356 KB

english, 2000

15

Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1

Bo Yuan, Jeanne P. Thomas, Yskert von Kodolitsch, Reed E. Pyeritz

Journal:

Year:

1999

Language:

english

File:

PDF, 250 KB

english, 1999

16

Empowering primary care health professionals in medical genetics: How soon? How fast? How far?

Karen Greendale, Reed E. Pyeritz

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 134 KB

english, 2001

17

Growth and maturation in Marfan syndrome

Gurkan Erkula, Kevin B. Jones, Paul D. Sponseller, Harry C. Dietz, Reed E. Pyeritz

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 627 KB

english, 2002

18

Reply to correspondence by McInerney and Jenkins

Reed E. Pyeritz, Karen Greendale

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 28 KB

english, 2002

19

Pseudoxanthoma elasticum: High calcium intake in early life correlates with severity

William A. Renie, Dr. Reed E. Pyeritz, James Combs, Stuart L. Fine

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 536 KB

english, 1984

20

Ehlers-Danlos syndrome IV due to a novel defect in type III procollagen

Dr. Reed E. Pyeritz, Catherine A. Stolle, Nollaig A. Parfrey, Jeanne C. Myers

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 885 KB

english, 1984

21

Osteogenesis imperfecta with unusual skeletal lesions: Report of three families

Dr. L. Stefan Levin, John M. Wright, D. Lamar Byrd, Guerdon Greenway, John P. Dorst, Roshen N. Irani, Reed E. Pyeritz, Richard J. Young, C. L. Laspia, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 944 KB

english, 1985

22

Pulmonary hypertension and interstitial fibrosis in von recklinghausen neurofibromatosis

James K. Porterfield, Reed E. Pyeritz, Thomas A. Traill, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 370 KB

english, 1986

23

Psychiatric manifestations of homocystinuria due to cystathionine β-synthase deficiency: Prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness

Margaret H. Abbott, Susan E. Folstein, Helen Abbey, Reed E. Pyeritz, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 694 KB

english, 1987

24

Thoracolumbosacral laminectomy in achondroplasia: Long-term results in 22 patients

Dr. Reed E. Pyeritz, George H. Sack Jr., George B. Udvarhelyi, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 758 KB

english, 1987

25

The bingo model of survivorship V. The problems of conformation to the empirical evidence

Dr. Edmond A. Murphy, Kenneth R. Berger, Joseph E. Trojak, Reed E. Pyeritz, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 906 KB

english, 1987

26

Marfan Syndrome: Exclusion of genetic linkage to three major collagen genes

Dr. Clair A. Francomano, Elizabeth A. Streeten, Deborah A. Meyers, Reed E. Pyeritz, John M. Optiz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 332 KB

english, 1988

27

Heritable disorders of connective tissue. Committee on nomenclature: Report of the Genetic Register Subcommittee, Berlin, September, 1986

Reed E. Pyeritz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 66 KB

english, 1988

28

Achondropiasia is not caused by mutation in the gene for type II collagen

Dr. Clair A. Francomano, Reed E. Pyeritz, John M. Optiz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 368 KB

english, 1988

29

Osteogenesis imperfecta type I with unusual dental abnormalities

Dr. L. Stefan Levin, Richard J. Young, Reed E. Pyeritz, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 834 KB

english, 1988

30

Growth of the foramen magnum in achondroplasia

Dr. Jacqueline T. Hecht, William A. Horton, Cheryl S. Reid, Reed E. Pyeritz, Ranajit Chakraborty

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 685 KB

english, 1989

31

Preface

Reed E. Pyeritz

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 86 KB

english, 1989

32

Conference Report: March of Dimes clinical genetics conference 1988

Reed E. Pyeritz

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 357 KB

english, 1989

33

Pleiotropy revisited: Molecular explanations of a classic concept

Dr. Reed E. Pyeritz

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 1.20 MB

english, 1989

34

Angular homeostasis VIII. Pursuit of a slowly moving target in a plane: Relevance to lateralization in cardiovascular ontogeny

Dr. Edmond A. Murphy, Sonia Rhee, Reed E. Pyeritz, Kenneth R. Berger

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 947 KB

english, 1991

35

Conference report The Second International Symposium on the Marfan Syndrome

Reed E. Pyeritz, Uta Francke

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 834 KB

english, 1993

36

Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: Report of two new patients and review of the literature

Arti Pandya, Nancy Braverman, Reed E. Pyeritz, Kuang-Lin Ying, A. D. Kline, Rena E. Falk

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 564 KB

english, 1995

37

Characterization of the symptoms associated with dural ectasia in the Marfan patient

Jared R.H. Foran, Reed E. Pyeritz, Harry C. Dietz, Paul D. Sponseller

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 296 KB

english, 2005

38

Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy

Woojin Kim, Reed E. Pyeritz, Barbara A. Bernhardt, Michael Casey, Harold I. Litt

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 166 KB

english, 2007

39

Vascular Ehlers–Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections

Eduardo J. Mortani Barbosa Jr., Reed E. Pyeritz, Harold Litt, Benoit Desjardins

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 6.30 MB

english, 2011

40

The 8th international research symposium on the Marfan Syndrome and related conditions

Reed E. Pyeritz, Bart Loeys

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 127 KB

english, 2012

41

Systolic expansion of the aortic root: An echocardiographic and angiographic sign of aortic composite graft dehiscence

Richard A. Josephson, Igor Singer, Joseph H. Levine, Lowell Maughan, Reed E. Pyeritz, Vincent L. Gott, Harlan F. Weisman, Jeffrey Brinker

Journal:

Catheterization and Cardiovascular Interventions

Year:

1988

Language:

english

File:

PDF, 221 KB

english, 1988

42

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

Harry C. Dietz, Jorge M. Saraiva, Reed E. Pyeritz, Garry R. Cutting, Clair A. Francomano

Journal:

Year:

1992

Language:

english

File:

PDF, 852 KB

english, 1992

43

Analysis of DNA bearing single-chained terminals by BNC chromatography

Robert A. Schlegel, Reed E. Pyeritz, Charles A. Thomas Jr.

Journal:

Analytical Biochemistry

Year:

1972

Language:

english

File:

PDF, 660 KB

english, 1972

44

The cyclization of mouse satellite DNA

Reed E. Pyeritz, C. S. Lee, Charles A. Thomas

Journal:

Year:

1971

Language:

english

File:

PDF, 1.55 MB

english, 1971

45

Differences in the Patterns of Health Care System Distrust Between Blacks and Whites

Katrina Armstrong, Suzanne McMurphy, Lorraine T. Dean, Ellyn Micco, Mary Putt, Chanita Hughes Halbert, J. Sanford Schwartz, Pamela Sankar, Reed E. Pyeritz, Barbara Bernhardt, Judy A. Shea

Journal:

Journal of General Internal Medicine

Year:

2008

Language:

english

File:

PDF, 147 KB

english, 2008

46

Genetic counseling for congenital heart disease: New approaches for a new decade

Katy Hoess, Elizabeth Goldmuntz, Reed E. Pyeritz

Journal:

Current Cardiology Reports

Year:

2002

Language:

english

File:

PDF, 356 KB

english, 2002

47

Composite Graft Repair of Marfan Aneurysm of the Ascending Aorta: Results in 150 Patients

Vincent L. Gott, Duke E. Cameron, Reed E. Pyeritz, A. Marc Gillinov, Peter S. Greene, Christopher D. Stone, Diane E. Alejo, Victor A. McKusick

Journal:

Journal of Cardiac Surgery

Year:

1994

Language:

english

File:

PDF, 418 KB

english, 1994

48

Current Diagnosis and Prescription for the Marian Syndrome: Aortic Root and Valve Replacement

Vincent L. Gott, Duke E. Cameron, Bruce A. Reitz, Reed E. Pyeritz

Journal:

Journal of Cardiac Surgery

Year:

1994

Language:

english

File:

PDF, 1.39 MB

english, 1994

49

Enzyme therapy: Treatment of inborn errors of metabolism by transplantation

Pyeritz, Reed E.

Journal:

Year:

1984

File:

PDF, 299 KB

1984

50

10.1038/6529

Horwitz, Edwin M., Prockop, Darwin J., Fitzpatrick, Lorraine A., Koo, Winston W. K., Gordon, Patricia L., Neel, Michael, Sussman, Michael, Orchard, Paul, Marx, Jeffrey C., Pyeritz, Reed E., Brenner, M

Journal:

Nature Medicine

Year:

1999

Language:

english

File:

PDF, 221 KB

english, 1999

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