Marie T McDonald

Marie T McDonald

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Marie T McDonald

Marie T McDonald

Publications by authors named "Marie T McDonald"

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CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.

Hum Mutat 2020 Mar 3;41(3):655-667. Epub 2019 Dec 3.

Department of Pediatrics and Adolescent Medicine, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1002/humu.23952DOI Listing
March 2020

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

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

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.

Epileptic Disord 2018 Feb;20(1):30-34

Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, USA.

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http://dx.doi.org/10.1684/epd.2018.0954DOI Listing
February 2018

Neuro-oculo-cutaneous cavernous hemangiomas: a CCM1 mutation-associated phakomatosis.

J AAPOS 2017 Oct 1;21(5):426-429.e1. Epub 2017 Sep 1.

Department of Ophthalmology, Duke University, Durham, North Carolina; Department of Radiation Oncology, Duke University, Durham, North Carolina; Department of Ophthalmology, Stanford University, Stanford, California. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2017.06.012DOI Listing
October 2017

Identification of mutation: clinical use of microarray.

Clin Case Rep 2017 06 10;5(6):980-985. Epub 2017 May 10.

Division of Medical Genetics Department of Pediatrics Duke University Health System Durham North Carolina.

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http://dx.doi.org/10.1002/ccr3.914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457984PMC
June 2017

Adult surgical experience with Loeys-Dietz syndrome.

Ann Thorac Surg 2015 Apr 10;99(4):1275-81. Epub 2015 Feb 10.

Department of Surgery, Division of Cardiovascular and Thoracic Surgery, Duke University Medical Center, Durham, North Carolina. Electronic address:

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http://dx.doi.org/10.1016/j.athoracsur.2014.11.021DOI Listing
April 2015

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Hum Mutat 2013 Jun 12;34(6):801-11. Epub 2013 Apr 12.

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

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http://doi.wiley.com/10.1002/humu.22313
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http://dx.doi.org/10.1002/humu.22313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663886PMC
June 2013

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.

Am J Med Genet A 2013 Jan 13;161A(1):198-202. Epub 2012 Dec 13.

Department of Pathology, University of North Carolina, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1002/ajmg.a.35671DOI Listing
January 2013

Clinical experience with array CGH: case presentations from nine months of practice.

Am J Med Genet A 2006 Oct;140(19):2050-6

Department of Pediatrics, Division of Clinical Genetics, Duke University Medical Center, Durham, North Carolina 27516, USA.

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http://doi.wiley.com/10.1002/ajmg.a.31417
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http://dx.doi.org/10.1002/ajmg.a.31417DOI Listing
October 2006

Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization.

J Am Acad Dermatol 2006 Jul;55(1):136-8

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.jaad.2005.11.1068DOI Listing
July 2006

Pelger-Huët anomaly in a child with 1q42.3-44 deletion.

Pediatr Blood Cancer 2006 May;46(5):645-8

Hematology-Oncology, Cincinnati Children's Hospital Medical Center, The University of Cincinnati College of Medicine, Cincinnati, Ohio 45229, USA.

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http://doi.wiley.com/10.1002/pbc.20504
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http://dx.doi.org/10.1002/pbc.20504DOI Listing
May 2006

Triploid mosaicism in a 45,X/69,XXY infant.

Am J Med Genet A 2005 Oct;138A(2):171-4

Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30943
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http://dx.doi.org/10.1002/ajmg.a.30943DOI Listing
October 2005