Publications by authors named "Beverly Hay"

13Publications

Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.

Clin Case Rep 2017 07 1;5(7):1152-1154. Epub 2017 Jun 1.

Department of Dermatology University of Massachusetts Medical School 281 Lincoln Street Worcester 01605 Massachusetts.

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http://dx.doi.org/10.1002/ccr3.1011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494382PMC
July 2017

Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1.

Pediatr Dermatol 2016 Sep 28;33(5):526-9. Epub 2016 Jul 28.

Division of Dermatology, Department of Medicine, University of Massachusetts Medical School and UMass Memorial Health Care, Worcester, Massachusetts.

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http://dx.doi.org/10.1111/pde.12936DOI Listing
September 2016

De novo mutations in PURA are associated with hypotonia and developmental delay.

Cold Spring Harb Mol Case Stud 2015 Oct;1(1):a000356

Department of Pediatrics, Columbia University Medical Center, New York, New York 10029, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/mcs.a000356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850890PMC
October 2015

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

JAMA 2014 Aug;312(7):729-38

Department of Pediatrics, University of California, San Francisco, San Francisco2UCSF Benioff Children's Hospital, San Francisco, California.

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http://primaryimmune.org/wp-content/uploads/2014/10/August-2
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http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabl
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http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.20
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http://dx.doi.org/10.1001/jama.2014.9132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492158PMC
August 2014

Dystrophic epidermolysis bullosa associated with amniotic band syndrome.

Pediatr Dermatol 2014 Mar-Apr;31(2):212-6. Epub 2014 Jan 3.

Division of Dermatology, Department of Medicine, University of Massachusetts Medical School, Worcester, Massachusetts.

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http://dx.doi.org/10.1111/pde.12285DOI Listing
January 2015

Deletion 22q11: spectrum of associated disorders.

Authors:
Beverly N Hay

Semin Pediatr Neurol 2007 Sep;14(3):136-9

Pediatric Genetics, Worcester, MA 01655, USA.

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http://dx.doi.org/10.1016/j.spen.2007.07.005DOI Listing
September 2007

Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency.

Blood 2007 Jul 16;110(1):67-73. Epub 2007 Mar 16.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892-1456, USA.

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http://dx.doi.org/10.1182/blood-2006-11-058933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1896128PMC
July 2007

Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia.

Pediatr Blood Cancer 2008 Mar;50(3):630-2

Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1002/pbc.21094DOI Listing
March 2008

Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.

Am J Med Genet A 2004 Mar;125A(2):145-51

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/ajmg.a.20595DOI Listing
March 2004