David W Stockton

David W Stockton

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David W Stockton

David W Stockton

Publications by authors named "David W Stockton"

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

Can Functional Polymorphisms in VEGF and MMP Predict Intraventricular Hemorrhage in Extremely Preterm Newborns?

Dev Neurosci 2018 2;40(4):337-343. Epub 2018 Nov 2.

Division of Pediatric Hematology/Oncology, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Detroit, Michigan, USA,

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https://www.karger.com/Article/FullText/493788
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http://dx.doi.org/10.1159/000493788DOI Listing
March 2019

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

Premature pubarche in children with Pompe disease.

J Pediatr 2015 Apr 14;166(4):1075-8.e1. Epub 2015 Feb 14.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2014.12.074DOI Listing
April 2015

Fatal acute encephalopathy in two siblings: a distinct hereditary entity?

J Neurol Sci 2012 Mar 21;314(1-2):155-7. Epub 2011 Nov 21.

Children's Hospital of Michigan, Wayne State University, Detroit, MI 48201, USA.

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http://dx.doi.org/10.1016/j.jns.2011.10.035DOI Listing
March 2012

Unusual physical features and heat stroke presentation for hypohydrotic ectodermal dysplasia.

Clin Dysmorphol 2012 Jan;21(1):24-6

Children's Hospital of Michigan, Department of Radiology, Detroit Medical Center, Detroit, MI 48201, USA.

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http://dx.doi.org/10.1097/MCD.0b013e32834cef61DOI Listing
January 2012

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.

Am J Med Genet A 2011 May 7;155A(5):1196-201. Epub 2011 Apr 7.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, 94143-0748, USA.

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http://dx.doi.org/10.1002/ajmg.a.34002DOI Listing
May 2011

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

Hum Genet 2011 Mar 14;129(3):319-27. Epub 2010 Dec 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 604B, Houston, TX, USA.

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http://dx.doi.org/10.1007/s00439-010-0928-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625363PMC
March 2011

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Hum Genet 2006 Sep 23;120(2):211-26. Epub 2006 Jun 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza Room 604B, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00439-006-0197-yDOI Listing
September 2006

Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.

Invest Ophthalmol Vis Sci 2006 Apr;47(4):1486-90

Health Research and Education Center, Washington State University Spokane, Spokane, Washington 99210-1495, USA.

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http://dx.doi.org/10.1167/iovs.05-0763DOI Listing
April 2006

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Hum Mol Genet 2005 Dec 3;14(24):3865-75. Epub 2005 Nov 3.

Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor 48105, USA, and Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Seville, Spain.

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http://dx.doi.org/10.1093/hmg/ddi411DOI Listing
December 2005

Recurrent biparental hydatidiform mole: additional evidence for a 1.1-Mb locus in 19q13.4 and candidate gene analysis.

J Soc Gynecol Investig 2005 Jul;12(5):376-83

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1016/j.jsgi.2005.02.011DOI Listing
July 2005

A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation.

Mol Endocrinol 2005 Apr 29;19(4):972-81. Epub 2004 Dec 29.

Department of Molecular Genetics, University of Texas M. D. Anderson Cancer Center, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1210/me.2004-0192DOI Listing
April 2005

Genetic association analysis of chronic mountain sickness in an Andean high-altitude population.

Haematologica 2005 Jan;90(1):13-9

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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January 2005

Congenital polycythemias/erythrocytoses.

Haematologica 2005 Jan;90(1):109-16

Center for Sickle Cell Disease and Department of Medicine, Howard University, Washington, DC, USA.

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January 2005

Expanding the phenotype of alveolar capillary dysplasia (ACD).

J Pediatr 2004 Nov;145(5):646-51

Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.jpeds.2004.06.081DOI Listing
November 2004

The fibroblast growth factor receptor-4 Arg388 allele is associated with prostate cancer initiation and progression.

Clin Cancer Res 2004 Sep;10(18 Pt 1):6169-78

Department of Pathology, Baylor College of Medicine, USA.

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http://dx.doi.org/10.1158/1078-0432.CCR-04-0408DOI Listing
September 2004

Possible primary familial and congenital polycythemia locus at 7q22.1-7q22.2.

Blood Cells Mol Dis 2003 Nov-Dec;31(3):327-31

MS 525D Texas Medical Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/s1079-9796(03)00167-0DOI Listing
July 2004

Clonal hematopoiesis in familial polycythemia vera suggests the involvement of multiple mutational events in the early pathogenesis of the disease.

Blood 2003 Nov 26;102(10):3793-6. Epub 2003 Jun 26.

Department of Research, Experimental Hematology, Basel University Hospital, Switzerland.

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http://dx.doi.org/10.1182/blood-2003-03-0885DOI Listing
November 2003

Functional genetic analysis of mouse chromosome 11.

Nature 2003 Sep;425(6953):81-6

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/nature01865DOI Listing
September 2003

Endemic polycythemia in Russia: mutation in the VHL gene.

Blood Cells Mol Dis 2002 Jan-Feb;28(1):57-62

Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1006/bcmd.2002.0488DOI Listing
June 2003

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.

Nat Genet 2002 Oct 16;32(2):267-72. Epub 2002 Sep 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/ng987DOI Listing
October 2002

Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.

Hum Genet 2002 Apr 14;110(4):371-6. Epub 2002 Mar 14.

Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00439-002-0699-1DOI Listing
April 2002