Publications by authors named "Bryan D Hall"

23Publications

Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.

Am J Med Genet A 2020 06 6;182(6):1421-1425. Epub 2020 Apr 6.

Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.a.61574DOI Listing
June 2020

Epigenetic Determinants of Erythropoiesis: Role of the Histone Methyltransferase SetD8 in Promoting Erythroid Cell Maturation and Survival.

Mol Cell Biol 2015 Jun 8;35(12):2073-87. Epub 2015 Apr 8.

Department of Cell and Regenerative Biology, UW-Madison Blood Research Program, Carbone Cancer Center, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA

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http://dx.doi.org/10.1128/MCB.01422-14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438249PMC
June 2015

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

A new case of a LUMBAR syndrome.

Am J Med Genet A 2014 Jan 20;164A(1):204-7. Epub 2013 Nov 20.

Division of Medical Genetics, California Pacific Medical Center, San Francisco, California.

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http://dx.doi.org/10.1002/ajmg.a.36215DOI Listing
January 2014

Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy.

Am J Med Genet A 2011 Mar 22;155A(3):526-33. Epub 2011 Feb 22.

Division of Medical Genetics, A. I. duPont Hospital for Children, Wilmington, Delaware, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33705
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http://dx.doi.org/10.1002/ajmg.a.33705DOI Listing
March 2011

Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome.

Am J Med Genet A 2010 Jul;152A(7):1718-23

Department of Pediatrics, University of Virginia Health System, Charlottesville, Virginia 22908-0386, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33468
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http://dx.doi.org/10.1002/ajmg.a.33468DOI Listing
July 2010

Invited comment regarding "Pilot assessment of a radiological classification for segmentation defects of the vertebrae" by Offiah et al.

Authors:
Bryan D Hall

Am J Med Genet A 2010 Jun;152A(6):1372-3

Department of Pediatrics, University of Kentucky, Lexington, Kentucky, USA.

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http://dx.doi.org/10.1002/ajmg.a.33423DOI Listing
June 2010

Elements of morphology: standard terminology for the periorbital region.

Am J Med Genet A 2009 Jan;149A(1):29-39

Department of Pediatrics, University of Kentucky, Lexington, Kentucky 40536-0284, USA.

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http://dx.doi.org/10.1002/ajmg.a.32597DOI Listing
January 2009

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy.

Am J Med Genet A 2008 Dec;146A(24):3186-94

Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.32576DOI Listing
December 2008

Preaxial hallucal polydactyly as a marker for diabetic embryopathy.

Birth Defects Res A Clin Mol Teratol 2009 Jan;85(1):13-9

Emory University School of Medicine, Atlanta, Georgia 30033, USA.

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http://dx.doi.org/10.1002/bdra.20503DOI Listing
January 2009

A cluster study of gastroschisis: single center experience.

J Ky Med Assoc 2008 Aug;106(8):361-5

Department of Pediatrics, Box 356320, University of Washington, Seattle, WA 98195, USA.

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August 2008

DOOR syndrome: clinical report, literature review and discussion of natural history.

Am J Med Genet A 2007 Dec;143A(23):2821-31

School of Medicine, University of California, San Francisco, California.

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http://dx.doi.org/10.1002/ajmg.a.32054DOI Listing
December 2007

Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes.

Am J Med Genet A 2007 Dec;143A(24):3047-53

Division of Clinical/Biochemical Genetics and Dysmorphology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky, USA.

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http://dx.doi.org/10.1002/ajmg.a.31970DOI Listing
December 2007

Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals.

Am J Med Genet A 2004 Jan;124A(2):158-64

Department of Pediatrics, University of New Mexico, Albuquerque, New Mexico, USA.

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http://dx.doi.org/10.1002/ajmg.a.20370DOI Listing
January 2004

Adult height in Noonan syndrome.

Am J Med Genet A 2003 Nov;123A(1):68-71

University of Kentucky, Lexington, Kentucky, USA.

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http://dx.doi.org/10.1002/ajmg.a.20502DOI Listing
November 2003

A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13.

Am J Med Genet A 2003 Nov;123A(1):37-44

Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20504
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http://dx.doi.org/10.1002/ajmg.a.20504DOI Listing
November 2003

X-linked cubitus valgus with mental retardation and typical face.

Am J Med Genet A 2003 Nov;123A(1):33-6

Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.20494DOI Listing
November 2003

New perspectives on the face in fetal alcohol syndrome: what anthropometry tells us.

Am J Med Genet 2002 May;109(4):249-60

St. Vincent Hospitals and Health Services, 2001 West 86th Street, PO Box 40970, Indianapolis, IN 46240, USA.

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http://dx.doi.org/10.1002/ajmg.10197DOI Listing
May 2002

Adjunct diagnostic test for Angelman syndrome: the tuning fork response.

Authors:
Bryan D Hall

Am J Med Genet 2002 May;109(3):238-40

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http://dx.doi.org/10.1002/ajmg.10302DOI Listing
May 2002