Roberta A Pagon: search on Z-Library

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1

Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: A distinct syndrome?

Melissa A. Parisi, Gad B. Kletter, Richard Grady, Michael Mitchell, Linda A. Ramsdell, Roberta A. Pagon

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 266 KB

english, 2002

2

Clinician Perspectives about Molecular Genetic Testing for Heritable Conditions and Development of a Clinician-Friendly Laboratory Report

Lubin, Ira M., McGovern, Margaret M., Gibson, Zoe, Gross, Susan J., Lyon, Elaine, Pagon, Roberta A., Pratt, Victoria M., Rashid, Jamila, Shaw, Colleen, Stoddard, Lander, Trotter, Tracy L., Williams, M

Journal:

The Journal of Molecular Diagnostics

Year:

2009

Language:

english

File:

PDF, 119 KB

english, 2009

3

Response to Dr. Sharma and colleagues

Raj P. Kapur, Dr. Roberta A. Pagon

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 110 KB

english, 1993

4

Genetic testing: when to test and when to refer

Roberta A. Pagon, Tracy L. Trotter

Journal:

Paediatrics and Child Health

Year:

2007

Language:

english

File:

PDF, 86 KB

english, 2007

5

Facio-oculo-acoustico-renal (FOAR) syndrome: Case report and review

Schowalter, David B., Pagon, Roberta A., Kalina, Robert E., McDonald, Ruth

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 246 KB

english, 1997

6

Digital anomalies, microcephaly, and normal intelligence: New syndrome or Feingold syndrome?

Kawame, Hiroshi, Pagon, Roberta A., Hudgins, Louanne

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 486 KB

english, 1997

7

Autosomal dominant inheritance of Barber-Say syndrome

Dinulos, Mary Beth, Pagon, Roberta A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 209 KB

english, 1999

8

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): Presentation in two unrelated patients in the United States

Smith, Wendy, Ji, Hanlee P., Mouradian, Wendy, Pagon, Roberta A.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 620 KB

english, 1999

9

Two novel fibrillin-2 mutations in congenital contractural arachnodactyly

Belleh, Susan, Zhou, Guimei, Wang, Mei, Der Kaloustian, Vazken M., Pagon, Roberta A., Godfrey, Maurice

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 199 KB

english, 2000

10

Mother to son transmission of del(1) (q42.1q42.3)

Julie A. Sanford Hanna, Susie Ball, Roberta A. Pagon, Michael Donlan

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 333 KB

english, 2001

11

Failure of early prenatal diagnosis in classic achondroplasia

Judith G. Hall, Mitchell S. Golbus, C. Benjamin Graham, Roberta A. Pagon, David A. Luthy, Roy A. Filly, John M. Optiz

Journal:

American Journal of Medical Genetics Part A

Year:

1979

Language:

english

File:

PDF, 274 KB

english, 1979

12

Possible autosomal-recessive ocular coloboma

Roberta A. Pagon, Robert E. Kalina, David J. Lechner, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1981

Language:

english

File:

PDF, 329 KB

english, 1981

13

Hepatic involvement in the Bardet-Biedl syndrome

Dr. Roberta A. Pagon, Joel E. Haas, Ann H. Bunt, Keith A. Rodaway, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1982

Language:

english

File:

PDF, 630 KB

english, 1982

14

Smith-Lemli-Opitz syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

Cynthia J. R. Curry, John C. Carey, Julie S. Holland, Devinder Chopra, Robert Fineman, Mahin Golabi, Sanford Sherman, Roberta A. Pagon, Judith Allanson, Sally Shulman, Mason Barr, Vincent McGravey, Cy

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 1.07 MB

english, 1987

15

Velo-cardio-facial syndrome vs. CHARGE “association”

Roberta A. Pagon, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 52 KB

english, 1987

16

Diagnostic criteria for Walker-Warburg syndrome

William B. Dobyns, Roberta A. Pagon, Dawna Armstrong, Cynthia J. R. Curry, Frank Greenberg, Arthur Grix, Lewis B. Holmes, Renata Laxova, Virginia V. Michels, Meinhard Robinow, Roberta L. Zimmerman, Jo

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 1.59 MB

english, 1989

17

Partial deletion of the long arm of chromosome 11 [del(11)(q23.3→qter)] with abnormal white matter

Terrance D. Wardinsky, Ed Weinberger, Roberta A. Pagon, Sterling K. Clarren, Horace C. Thuline

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 396 KB

english, 1990

18

Response to Santavuori et al. regarding Walker-Warburg syndrome and muscle-eye-brain disease

William B. Dobyns, Roberta A. Pagon, Cynthia J. R. Curry, Frank Greenberg

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 231 KB

english, 1990

19

Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma

Cary O. Harding, Roberta A. Pagon

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 502 KB

english, 1990

20

Response to Dr. David Gutmann

Terrance D. Wardinsky, Roberta A. Pagon, Ed Weinberger, Sterling K. Clarren

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 58 KB

english, 1991

21

Twin fetuses with abnormalities that overlap with three midline malformation complexes

Sangeeta R. Hingorani, Roberta A. Pagon, Thomas H. Shepard, Raj P. Kapur

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 685 KB

english, 1991

22

Reply to Drs. Webb and Osborne on Incidence of Tuberous Sclerosis in Patients With Cardiac Rhabdomyoma

Cary O. Harding, Roberta A. Pagon

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 80 KB

english, 1992

23

Mosaic isochromosome 8p

David J. Tilstra, Marcia Grove, Anne C. Spencer, Thomas H. Norwood, Roberta A. Pagon

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 247 KB

english, 1993

24

Okihiro syndrome

Katherine F. McGowan, Dr. Roberta A. Pagon

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 76 KB

english, 1994

25

Re: True agonadism: Report of a case analyzed with Y-specific DNA probes

Dr. Virginia P. Sybert, Roberta A. Pagon, Linda Ramsdell, Kathi Marymee

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 121 KB

english, 1995

26

Partial ATRX gene duplication causes ATR-X syndrome

Dianne M. Cohn, Roberta A. Pagon, Louanne Hudgins, Charles E. Schwartz, Roger E. Stevenson, Michael J. Friez

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 135 KB

english, 2009

27

Familial arthritis and camptodactyly

Peter Malleson, Jane Green Schaller, Frank Dega, Suzanne Bletterman Cassidy, Roberta A. Pagon

Journal:

Arthritis & Rheumatism

Year:

1981

Language:

english

File:

PDF, 528 KB

english, 1981

28

GeneTests-GeneClinics: Genetic testing information for a growing audience

Roberta A. Pagon, Peter Tarczy-Hornoch, Patricia K. Baskin, Joseph E. Edwards, Maxine L. Covington, Miriam Espeseth, Christine Beahler, Thomas D. Bird, Bradley Popovich, Charli Nesbitt, Cynthia Dolan,

Journal:

Year:

2002

Language:

english

File:

PDF, 856 KB

english, 2002

29

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

Karen Stephens, Lucille Kayes, Vincent M. Riccardi, Marcia Rising, Virginia P. Sybert, Roberta A. Pagon

Journal:

Year:

1992

Language:

english

File:

PDF, 445 KB

english, 1992

30

Hypomelanosis of Ito in a girl with plexus papilloma and transloction (X;17)

Virginia P. Sybert, Roberta A. Pagon

Journal:

Year:

1994

Language:

english

File:

PDF, 100 KB

english, 1994

31

Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe

Michael A. Cantrell, James N. Bicknell, Roberta A. Pagon, David C. Page, David C. Walker, Howard M. Saal, Arthur B. Zinn, Christine M. Disteche

Journal:

Year:

1989

Language:

english

File:

PDF, 620 KB

english, 1989

32

X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes

Christine M. Disteche, Karen Swisshelm, S. Forbes, Roberta A. Pagon

Journal:

Year:

1984

Language:

english

File:

PDF, 952 KB

english, 1984

33

The “Cat Eye syndrome”: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter→q11) associated with a characteristic phenotype

A. Schinzel, W. Schmid, M. Fraccaro, L. Tiepolo, Orsetta Zuffardi, J. M. Opitz, J. Lindsten, P. Zetterqvist, H. Enell, C. Baccichetti, R. Tenconi, Roberta A. Pagon

Journal:

Year:

1981

Language:

english

File:

PDF, 2.66 MB

english, 1981

34

Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3)

Robert S. Sparkes, Maryellen C. Sparkes, Robert E. Kalina, Roberta A. Pagon, Darrell J. Salk, Christine M. Disteche

Journal:

Year:

1984

Language:

english

File:

PDF, 229 KB

english, 1984

35

Development of the Critical Elements of Genetic Evaluation and Genetic Counseling for Genetic Professionals and Perinatologists in Washington State

Kathi Marymee, Cynthia R. Dolan, Roberta A. Pagon, Robin L. Bennett, Sandra Coe, Nancy L. Fisher

Journal:

Journal of Genetic Counseling

Year:

1998

Language:

english

File:

PDF, 1.64 MB

english, 1998

36

Ambiguous genitalia: What prenatal genetic testing is practical?

Margaret P. Adam, Patricia Y. Fechner, Linda A. Ramsdell, Angela Badaru, Richard E. Grady, Roberta A. Pagon, Elizabeth McCauley, Edith Y. Cheng, Melissa A. Parisi, Margarett Shnorhavorian

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 105 KB

english, 2012

37

Calvarial hyperostosis: a benign X-linked recessive disorder

Roberta A. Pagon, J. Bruce Beckwith, Byron H. Ward

Journal:

Clinical Genetics

Year:

1986

Language:

english

File:

PDF, 470 KB

english, 1986

38

Marinesco-Sjögren Syndrome: Clinical and Magnetic Resonance Imaging Features in Three Children

John F McLaughlin, Roberta A Pagon, Edward Weinberger, Joel E Haas

Journal:

Developmental Medicine & Child Neurology

Year:

1996

Language:

english

File:

PDF, 856 KB

english, 1996

39

Marinesco-Sjdgren Syndrome: Clinical and Magnetic Resonance Imaging Features in Three Children

John F McLaughlin, Roberta A Pagon, Edward Weinberger, Joel E Haas

Journal:

Developmental Medicine & Child Neurology

Year:

1996

Language:

english

File:

PDF, 717 KB

english, 1996

40

Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito

Virginia P. Sybert, Roberta A. Pagon, Michael Donlan, Cynthia M. Bradley

Journal:

The Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 1.46 MB

english, 1990

41

Prevalence of hypopigmented macules in a healthy population

Sheryll L. Vanderhooft, Julie S. Francis, Roberta A. Pagon, Lynne T. Smith, Virginia P. Sybert

Journal:

The Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 2.48 MB

english, 1996

42

Phenotypic spectrum and management issues in Kabuki syndrome

Hiroshi Kawame, Mark C. Hannibal, Louanne Hudgins, Roberta A. Pagon

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 521 KB

english, 1999

43

Genetic testing for disease susceptibilities: consequences for genetic counseling

Roberta A Pagon

Journal:

Trends in Molecular Medicine

Year:

2002

Language:

english

File:

PDF, 22 KB

english, 2002

44

Mutation Analysis of UBE3A in Angelman Syndrome Patients

Perrine Malzac, Hayley Webber, Anne Moncla, John M. Graham Jr, Mary Kukolich, Charles Williams, Roberta A. Pagon, Linda A. Ramsdell, Tatsuya Kishino, Joseph Wagstaff

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 273 KB

english, 1998

45

Multilocus FISH Analysis

Roberta A. Pagon

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 41 KB

english, 1997

46

GeneTests: Integrating Genetic Services into Patient Care

Roberta A. Pagon

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 2.88 MB

english, 2007

47

Ocular coloboma

Roberta A. Pagon

Journal:

Survey of Ophthalmology

Year:

1981

Language:

english

File:

PDF, 2.34 MB

english, 1981

48

Retinitis pigmentosa

Roberta A. Pagon

Journal:

Survey of Ophthalmology

Year:

1988

Language:

english

File:

PDF, 8.36 MB

english, 1988

49

Urethral obstruction malformation complex: A cause of abdominal muscle deficiency and the “prune belly”

Roberta A. Pagon, David W. Smith, Thomas H. Shepard

Journal:

The Journal of Pediatrics

Year:

1979

Language:

english

File:

PDF, 3.50 MB

english, 1979

50

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

Roberta A. Pagon, John M. Graham Jr., Jonathan Zonana, Siu-Li Yong

Journal:

The Journal of Pediatrics

Year:

1981

Language:

english

File:

PDF, 421 KB

english, 1981

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