Publications by authors named "Patricia Galvin-Parton"

13Publications

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Mol Genet Metab 2010 Mar 1;99(3):263-8. Epub 2009 Nov 1.

Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 777, Rochester, NY 14642, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.10.188DOI Listing
March 2010

The genetic basis for bronchopulmonary dysplasia.

Front Biosci 2006 May 1;11:1854-60. Epub 2006 May 1.

Division of Neonatology, Department of Pediatrics, New York Medical College, Maria Fareri Children's Hospital, Westchester Medical Center, Valhalla, NY 10595, USA.

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http://dx.doi.org/10.2741/1928DOI Listing
May 2006

Severe toxicity following induction chemotherapy for acute myelogenous leukemia in a patient with Werner's syndrome.

Leuk Lymphoma 2005 Jul;46(7):1091-5

Zalmen A. Arlin Cancer Institute, New York Medical College, Valhalla, NY 10595, USA.

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http://dx.doi.org/10.1080/10428190500102688DOI Listing
July 2005

Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects.

Am J Med Genet 2002 Jul;110(3):273-7

Department of Pediatrics, State University of New York, Stony Brook, New York, USA.

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http://dx.doi.org/10.1002/ajmg.10462DOI Listing
July 2002