Pesquisa | BVS Violência e Saúde

1.

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

Ou, Zhishuo; Stankiewicz, Pawel; Xia, Zhilian; Breman, Amy M; Dawson, Brian; Wiszniewska, Joanna; Szafranski, Przemyslaw; Cooper, M Lance; Rao, Mitchell; Shao, Lina; South, Sarah T; Coleman, Karlene; Fernhoff, Paul M; Deray, Marcel J; Rosengren, Sally; Roeder, Elizabeth R; Enciso, Victoria B; Chinault, A Craig; Patel, Ankita; Kang, Sung-Hae L; Shaw, Chad A; Lupski, James R; Cheung, Sau W.

Genome Res ; 21(1): 33-46, 2011 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-21205869

2.

Source document verification in the Mucopolysaccharidosis Type I Registry.

Verhulst, Karien; Artiles-Carloni, Laura; Beck, Michael; Clarke, Joe T R; Neto, Jordao Correa; Cox, Gerald F; Fernhoff, Paul M; Guffon, Nathalie; Kong, Yuan; Martins, Ana Maria; Tylki-Szymanska, Anna; Whitley, Chester B; Wijburg, Frits A; Wraith, Edward J; Koepper, Catherine M.

Pharmacoepidemiol Drug Saf ; 21(7): 749-752, 2012 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-22170853

3.

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

Moreno-De-Luca, Andres; Helmers, Sandra L; Mao, Hui; Burns, Thomas G; Melton, Amanda M A; Schmidt, Karen R; Fernhoff, Paul M; Ledbetter, David H; Martin, Christa L.

J Med Genet ; 48(2): 141-4, 2011 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-20972249

4.

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

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

Mol Genet Metab ; 103(4): 315-22, 2011 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-21646032

5.

Maternal and neonatal vitamin B12 deficiency detected through expanded newborn screening--United States, 2003-2007.

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

J Pediatr ; 157(1): 162-3, 2010 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-20400092

6.

Social-adaptive and psychological functioning of patients affected by Fabry disease.

Laney, Dawn Alyssia; Gruskin, Daniel J; Fernhoff, Paul M; Cubells, Joseph F; Ousley, Opal Y; Hipp, Heather; Mehta, Ami J.

J Inherit Metab Dis ; 33 Suppl 3: S73-81, 2010 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-20087663

7.

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

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

Mol Genet Metab ; 96(3): 97-105, 2009 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-19138872

8.

Heparin cofactor II-thrombin complex: a biomarker of MPS disease.

Randall, Derrick R; Colobong, Karen E; Hemmelgarn, Harmony; Sinclair, Graham B; Hetty, Elly; Thomas, Anita; Bodamer, Olaf A; Volkmar, Barbara; Fernhoff, Paul M; Casey, Robin; Chan, Alicia K; Mitchell, Grant; Stockler, Silvia; Melancon, Serge; Rupar, Tony; Clarke, Lorne A.

Mol Genet Metab ; 94(4): 456-461, 2008 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-18511319

9.

Diagnosis of Fabry disease via analysis of family history.

Laney, Dawn A; Fernhoff, Paul M.

J Genet Couns ; 17(1): 79-83, 2008 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-18172746

10.

Duarte galactosemia: how sweet is it?

Fernhoff, Paul M.

Clin Chem ; 56(7): 1045-6, 2010 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-20489130

11.

Mowat-Wilson syndrome with craniosynostosis: a case report.

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

Am J Med Genet A ; 146A(2): 245-6, 2008 Jan 15.

Artigo em Inglês | MEDLINE | ID: mdl-18076118

12.

Newborn screening for genetic disorders.

Fernhoff, Paul M.

Pediatr Clin North Am ; 56(3): 505-13, Table of Contents, 2009 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-19501689

13.

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

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

Prenat Diagn ; 26(5): 462-5, 2006 May.

Artigo em Inglês | MEDLINE | ID: mdl-16548007

14.

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

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

Am J Med Genet A ; 132A(4): 411-3, 2005 Feb 01.

Artigo em Inglês | MEDLINE | ID: mdl-15633177

15.

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.

Botto, Lorenzo D; May, Kristin; Fernhoff, Paul M; Correa, Adolfo; Coleman, Karlene; Rasmussen, Sonja A; Merritt, Robert K; O'Leary, Leslie A; Wong, Lee-Yang; Elixson, E Marsha; Mahle, William T; Campbell, Robert M.

Pediatrics ; 112(1 Pt 1): 101-7, 2003 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-12837874

16.

Barriers to successful dietary control among pregnant women with phenylketonuria.

Brown, Amanda Savage; Fernhoff, Paul M; Waisbren, Susan E; Frazier, Dianne M; Singh, Rani; Rohr, Fran; Morris, Jill M; Kenneson, Aileen; MacDonald, Pia; Gwinn, Marta; Honein, Margaret; Rasmussen, Sonja A.

Genet Med ; 4(2): 84-9, 2002.

Artigo em Inglês | MEDLINE | ID: mdl-11882785

17.

No pains, many gains.

Fernhoff, Paul M.

J Pediatr ; 141(4): 470-1, 2002 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-12378183

18.

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

Fernhoff, Paul M.

J Pediatr ; 141(2): 153-4, 2002 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-12183703

19.

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.

Fernhoff, Paul M.

J Pediatr ; 140(5): 621, 2002 May.

Artigo em Inglês | MEDLINE | ID: mdl-12073955

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Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

Source document verification in the Mucopolysaccharidosis Type I Registry.

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.

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

Maternal and neonatal vitamin B12 deficiency detected through expanded newborn screening--United States, 2003-2007.

Social-adaptive and psychological functioning of patients affected by Fabry disease.

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

Heparin cofactor II-thrombin complex: a biomarker of MPS disease.

Diagnosis of Fabry disease via analysis of family history.

Duarte galactosemia: how sweet is it?

Mowat-Wilson syndrome with craniosynostosis: a case report.

Newborn screening for genetic disorders.

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

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

A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.

Barriers to successful dietary control among pregnant women with phenylketonuria.

No pains, many gains.

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

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.