Publications by authors named "Paul M Fernhoff"

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Source document verification in the Mucopolysaccharidosis Type I Registry.
Karien Verhulst, Laura Artiles-Carloni, Michael Beck, Joe T R Clarke, Jordao Correa Neto, Paul M Fernhoff

Pharmacoepidemiol Drug Saf· July 2012

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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, Paul M Fernhoff

Mol Genet Metab· August 2011

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Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
Andres Moreno-De-Luca, Sandra L Helmers, Hui Mao, Thomas G Burns, Amanda M A Melton, Paul M Fernhoff

J Med Genet· February 2011

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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Zhishuo Ou, Paweł Stankiewicz, Zhilian Xia, Amy M Breman, Brian Dawson, Paul M Fernhoff

Genome Res· January 2011

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Social-adaptive and psychological functioning of patients affected by Fabry disease.
Dawn Alyssia Laney, Daniel J Gruskin, Paul M Fernhoff, Joseph F Cubells, Opal Y Ousley

J Inherit Metab Dis· December 2010

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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

J Pediatr· July 2010

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Duarte galactosemia: how sweet is it?
Paul M Fernhoff

Clin Chem· July 2010

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Newborn screening for genetic disorders.
Paul M Fernhoff

Pediatr Clin North Am· June 2009

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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, Paul M Fernhoff

Mol Genet Metab· March 2009

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Heparin cofactor II-thrombin complex: a biomarker of MPS disease.
Derrick R Randall, Karen E Colobong, Harmony Hemmelgarn, Graham B Sinclair, Elly Hetty, Paul M Fernhoff

Mol Genet Metab· August 2008

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Diagnosis of Fabry disease via analysis of family history.
Dawn A Laney, Paul M Fernhoff

J Genet Couns· February 2008

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Mowat-Wilson syndrome with craniosynostosis: a case report.
Margaret P Adam, April N Justice, Lora J H Bean, Paul M Fernhoff

Am J Med Genet A· January 2008

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X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene.
April N Brady, Bahig M Shehata, Paul M Fernhoff

Prenat Diagn· May 2006

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Mosaic trisomy 4: Long-term outcome on the first reported liveborn.
April N Brady, Kristin M May, Paul M Fernhoff

Am J Med Genet A· February 2005

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A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.
Lorenzo D Botto, Kristin May, Paul M Fernhoff, Adolfo Correa, Karlene Coleman

Pediatrics· July 2003

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No pains, many gains.
Paul M Fernhoff

J Pediatr· October 2002

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Paying for children to participate in research: a slippery slope or an enlightened stairway?
Paul M Fernhoff

J Pediatr· August 2002

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Barriers to successful dietary control among pregnant women with phenylketonuria.
Amanda Savage Brown, Paul M Fernhoff, Susan E Waisbren, Dianne M Frazier, Rani Singh

Genet Med· June 2002

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Malformations of the brain: a neglected source of basic knowledge on the development of cerebral structure and function. Yakolev P I. J Pediatr 1952;40:626-7.
Paul M Fernhoff

J Pediatr· May 2002

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