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1

700: Jewish genetic diseases: larger screening panel increases the aggregate carrier rate in the Ashkenazi Jewish population

Adele Schneider, Deborah Barbouth, Faye Shapiro, Debra Wasserman, Karen Grinzaid, Shoshana Rosen, Paul Fernhoff, Arnold Cohen, Jodi Hoffman

Journal:

American Journal of Obstetrics and Gynecology

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

2

Abstracts for the ninth annual scientific conference of the Prader-Willi Syndrome (PWS) Association

Fernhoff, Paul M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 992 KB

english, 1996

3

Unique mosaicism of tetraploidy and trisomy 8: Clinical, cytogenetic, and molecular findings in a live-born infant

Roberts, Helen E., Saxe, Debra F., Muralidharan, Kasinathan, Coleman, Karlene B., Zacharias, June F., Fernhoff, Paul M.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 903 KB

english, 1996

4

Newborn Screening for Genetic Disorders

Fernhoff, Paul M.

Journal:

Pediatric Clinics of North America

Year:

2009

Language:

english

File:

PDF, 84 KB

english, 2009

5

Population study of congenital hypothyroidism and associated birth defects, Atlanta, 1979-1992

Roberts, Helen E., Moore, Cynthia A., Fernhoff, Paul M., Brown, Ann L., Khoury, Muin J.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

6

Limitations of amniography in the prenatal diagnosis of spina bifida

Dr. Paul M. Fernhoff, Janet P. Marion, Jean H. Priest, John M. Optiz

Journal:

American Journal of Medical Genetics Part A

Year:

1980

Language:

english

File:

PDF, 301 KB

english, 1980

7

Pre- and postnatal diagnosis of trisomy 4 mosaicism

Janet P. Marion, Paul M. Fernhoff, Jeffrey Korotkin, Jean H. Priest

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 359 KB

english, 1990

8

Tissue specificity and stability of mosaicism in Pallister–Killian +i(12p) syndrome: Relevance for prenatal diagnosis

Jean H. Priest, Jean M. Rust, Paul M. Fernhoff

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 403 KB

english, 1992

9

Mosaic trisomy 4: Long-term outcome on the first reported liveborn

April N. Brady, Kristin M. May, Paul M. Fernhoff

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 155 KB

english, 2005

10

Mowat-Wilson syndrome with craniosynostosis: A case report

Margaret P. Adam, April N. Justice, Lora J.H. Bean, Paul M. Fernhoff

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 104 KB

english, 2008

11

X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene

April N. Brady, Bahig M. Shehata, Paul M. Fernhoff

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 279 KB

english, 2006

12

Diagnosis of Fabry Disease via Analysis of Family History

Dawn A. Laney, Paul M. Fernhoff

Journal:

Journal of Genetic Counseling

Year:

2008

Language:

english

File:

PDF, 128 KB

english, 2008

13

Lymphedema as a Postulated Cause of Cutis Verticis Gyrata in Turner Syndrome

Margarita Larralde, Stephanie S. Gardner, Maria del V. Torrado, Paul M. Fernhoff, Andrea E. Santos Muñoz, Mary K. Spraker, Virginia P. Sybert

Journal:

Pediatric Dermatology

Year:

1998

Language:

english

File:

PDF, 586 KB

english, 1998

14

Source document verification in the Mucopolysaccharidosis Type I Registry

Karien Verhulst, Laura Artiles-Carloni, Michael Beck, Joe T. R. Clarke, Jordao Correa Neto, Gerald F. Cox, Paul M. Fernhoff, Nathalie Guffon, Yuan Kong, Ana Maria Martins, Anna Tylki-Szymanska, Cheste

Journal:

Pharmacoepidemiology and Drug Safety

Year:

2012

Language:

english

File:

PDF, 106 KB

english, 2012

15

An Evaluation of the Use of Dried Blood Spots from Newborn Screening for Monitoring the Prevalence of Cocaine Use among Childbearing Women

L.Omar Henderson, Mary K. Powell, W.Harry Hannon, John T. Bernert Jr., Kenneth A. Pass, Paul Fernhoff, Cynthia D. Ferre, Louise Martin, Elizabeth Franko, Roger W. Rochat, Mary D. Brantley, Eric Sampso

Journal:

Biochemical and Molecular Medicine

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

16

Maternal and Neonatal Vitamin B12 Deficiency Detected through Expanded Newborn Screening—United States, 2003–2007

Cynthia F. Hinton, Jelili A. Ojodu, Paul M. Fernhoff, Sonja A. Rasmussen, Kelley S. Scanlon, W. Harry Hannon

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 74 KB

english, 2010

17

Newborn Bloodspot Screening for Lysosomal Storage Disorders

Hui Zhou, Paul Fernhoff, Robert F. Vogt

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 177 KB

english, 2011

18

Sickle-cell anemia crisis: report of seven patients treated with Priscoline

Paul M. Fernhoff

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 54 KB

english, 2004

19

Medical genetics in pediatrics

Paul M. Fernhoff

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 45 KB

english, 2004

20

Leprechaunism: A euphuism for a rare familial disorder

Paul M. Fernhoff

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 49 KB

english, 2004

21

Some peculiarities of amino acid metabolism in infancy and early childhood

Paul M. Fernhoff

Journal:

The Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 50 KB

english, 2005

22

Morquio's disease

Paul M. Fernhoff

Journal:

The Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 50 KB

english, 2005

23

114. Pharmacological chaperone therapy for Gaucher disease: Mechanism of action, a survey of responsive mutations and phase I clinical trial results

Brandon Wustman, Corey Pine, Brian Ranes, John Flanagan, David Palling, Hung Do, Frank Insinga, Gregory Grabowski, Neal Weinreb, Gregory Pastores, Paul Fernhoff, Paige Kaplan, David Lockhart

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

24

Heparin cofactor II–thrombin complex: A biomarker of MPS disease

Derrick R. Randall, Karen E. Colobong, Harmony Hemmelgarn, Graham B. Sinclair, Elly Hetty, Anita Thomas, Olaf A. Bodamer, Barbara Volkmar, Paul M. Fernhoff, Robin Casey, Alicia K. Chan, Grant Mitchell

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 424 KB

english, 2008

25

59. Recruitment for Gaucher clinical trials: Easier said than done

Karen Grinzaid, Paul Fernhoff

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

26

26. Severe hydrocephalus in mucolipidosis type II: A case report

Heather Clark, Dawn Laney, Paul Fernhoff

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

27

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH

Oleg A. Shchelochkov, Fang-Yuan Li, Michael T. Geraghty, Renata C. Gallagher, Johan L. Van Hove, Uta Lichter-Konecki, Paul M. Fernhoff, Sara Copeland, Tyler Reimschisel, Stephen Cederbaum, Brendan Lee

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 1.43 MB

english, 2009

28

78. Environmental and genetic explorations into discordant disease expression in a pair of female monozygotic twins affected by Fabry disease

Dawn Laney, Paul Fernhoff, Madhuri Hedge, Chad Alexander

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 41 KB

english, 2010

29

79. Spontaneous pneumothorax in a young man affected by Fabry disease

Dawn Laney, Paul Fernhoff, Carlos Abramowsky, Jesse Roman-Rodriguez, Randolph Hennigar

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 41 KB

english, 2010

30

Will psychological intervention improve adaptive functioning in Fabry disease patients?

Nadia Ali, Laney Dawn, Fernhoff Paul

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 62 KB

english, 2011

31

Longitudinal studies of brain structure and function in MPS disorders: A study of the Lysosomal Disease network

Elsa Shapiro, Julie Eisengart, Igor Nestrasil, Alia Ahmed, Julian Raiman, Robert Steiner, Paul Harmatz, Gerald Berry, Gregory Pastores, Paul Fernhoff, David Viskochil, Kathleen Delaney

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 55 KB

english, 2011

32

Plant Cell Expressed Recombinant Glucocerebrosidase - taliglucerase alfa – as Therapy for Gaucher Disease in Patients Previously Treated with imiglucerase

Gregory M Pastores, Paul M. Fernhoff, Jeffrey Szer, Milan Petakov, Timothy M Cox, Pilar Giraldo, Hanna Rosenbaum, Dominick J Amato, Eugen Mengel, Raul Chertkoff, Einat Almon-Brill, Ari Zimran

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

33

Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: Results of a phase 3b study

Barbara K. Burton, Maria Nowacka, Julia B. Hennermann, Mark Lipson, Dorothy K. Grange, Anupam Chakrapani, Friedrich Trefz, Alex Dorenbaum, Michael Imperiale, Sun Sook Kim, Paul M. Fernhoff

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 290 KB

english, 2011

34

Depression in Patients with Fabry Disease: The Benefits of Telephone-Administered Versus Face-to-Face Psychological Counseling

Nadia Ali, Dawn Laney, Paul Fernhoff, Suma Shankar

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

35

Oral Migalastat HCL (AT1001/GR181314A) as an Investigational Therapy Evaluated in Females with Fabry Disease

Paul Fernhoff, Roberto Giugliani, Dominique Germain, Kathy Nicholls, Stephen Waldek, Daniel Bichet, Pol Boudes, Vilma Sniukiene

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

36

Evaluation of Globotriaosylceramide (GL-3) Accumulation in 18 Patients with Fabry Disease Nephropathy. Podocytes are More Severely Affected than Peritubular Capillaries

Roberto Giugliani, Pol Boudes, Dominique P. Germain, Paul Fernhoff, Kathy Nichols, Derralynn Hughes, Atul Mehta, Stephen Waldek, Laura Barisoni, J. Charles Jenette, Jeff Castelli, Sheela Sitaraman

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

37

Dyslipidemia and Fabry Disease

Dawn Laney, Paul Fernhoff, Chardae' Hill, Mary Ellen Yupari, Suma Shankar, Muhammad Ali Pervaiz, Robin Thompson

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

38

Plant Cell Expressed Recombinant Glucocerebrosidase - Taliglucerase alfa as Therapy for Gaucher Disease in Patients Previously Treated with Imiglucerase

Gregory Pastores, Paul Fernhoff, Jeffrey Szer, Milan Petakov, Timothy Cox, Pilar Giraldo, Hanna Rosenbaum, Dominick Amato, Eugen Mengel, Raul Chertkoff, Einat Almon-Brill, Ari Zimran

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

39

Congenital hypothyroidism and associated birth defects: Implications for investigators and clinicians

Paul M. Fernhoff

Journal:

The Journal of Pediatrics

Year:

1998

Language:

english

File:

PDF, 18 KB

english, 1998

40

The 22q11.2 deletion syndrome: More answers but more questions

Paul M. Fernhoff

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 43 KB

english, 2000

41

US Newborn Screening System Guidelines II: Follow-up of Children, Diagnosis, Management, and Evaluation Statement of the Council of Regional Networks for Genetic Services (CORN)

Kenneth A. Pass, Peter A. Lane, Paul M. Fernhoff, Cynthia F. Hinton, Susan R. Panny, John S. Parks, Mary Z. Pelias, William J. Rhead, Sonya I. Ross, Doris L. Wethers, Louis J. Elsas II

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 342 KB

english, 2000

42

Vitamin B12 deficiency in children and adolescents

Sonja A. Rasmussen, Paul M. Fernhoff, Kelley S. Scanlon

Journal:

The Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 117 KB

english, 2001

43

Paying for children to participate in research: A slippery slope or an enlightened stairway?

Paul M. Fernhoff

Journal:

The Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 51 KB

english, 2002

44

No pains, many gains

Paul M. Fernhoff

Journal:

The Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 40 KB

english, 2002

45

Long-term developmental outcomes of children identified through a newborn screening program with a metabolic or endocrine disorder: a population-based approach

Kim Van Naarden Braun, Marshalyn Yeargin-Allsopp, Diana Schendel, Paul Fernhoff

Journal:

The Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 121 KB

english, 2003

46

C. Fredericks,Editors, ,Carlton Fredericks' Nutrition Guide for the Prevention and Cure of Common Ailments and Diseases (1982) Simon & Schuster,1230 Avenue of the Americas, New York, NY 10020 194 pp., softcover, $8.95.

Paul M. Fernhoff

Journal:

Journal of Nutrition Education

Year:

1983

Language:

english

File:

PDF, 368 KB

english, 1983

47

Dominant polysyndactyly: A report of two families

Carol E. Anderson, Paul M. Fernhoff, Linda Quan

Journal:

The Journal of Pediatrics

Year:

1977

Language:

english

File:

PDF, 420 KB

english, 1977

48

Racial differences in the incidence of congenitalhypothyroidism

Ann L. Brown, Paul M. Fernhoff, Jeanne Milner, Cynthia McEwen, Louis S. Elsas

Journal:

The Journal of Pediatrics

Year:

1981

Language:

english

File:

PDF, 219 KB

english, 1981

49

Neonatal ethanol withdrawal: Characteristics in clinically normal, nondysmorphic neonates

Claire D. Coles, Iris E. Smith, Paul M. Fernhoff, Arthur Falek

Journal:

The Journal of Pediatrics

Year:

1984

Language:

english

File:

PDF, 597 KB

english, 1984

50

Craniofacial features of isotretinoin embryopathy

Paul M. Fernhoff, Edward J. Lammer

Journal:

The Journal of Pediatrics

Year:

1984

Language:

english

File:

PDF, 1.26 MB

english, 1984