Marie McDonald

Marie McDonald

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Marie McDonald

Marie McDonald

Publications by authors named "Marie McDonald"

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Corrigendum to "Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature" [Seizure 55 (February) (2018) 1-3].

Seizure 2019 Jul 6;69:305. Epub 2019 May 6.

Division of Pediatric Neurology, Department of Pediatrics, Duke University, Durham, NC, United States. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2019.04.014DOI Listing
July 2019

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

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature.

Seizure 2018 Feb 23;55:1-3. Epub 2017 Dec 23.

Division of Pediatric Neurology, Department of Pediatrics, Duke University, Durham, NC, United States. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2017.11.017DOI Listing
February 2018

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

Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood.

JIMD Rep 2018 1;40:85-90. Epub 2017 Nov 1.

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

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http://dx.doi.org/10.1007/8904_2017_66DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122023PMC
November 2017

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

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

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

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.

Ann Intern Med 2007 Jan 18;146(2):77-86. Epub 2006 Dec 18.

Mount Sinai School of Medicine of New York University, New York, New York, USA.

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http://dx.doi.org/10.7326/0003-4819-146-2-200701160-00148DOI Listing
January 2007

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

Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.

Mol Vis 2006 Aug 28;12:1009-15. Epub 2006 Aug 28.

Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA.

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August 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

Fibromyalgia: patient perspectives on symptoms, symptom management, and provider utilization.

Clin Nurse Spec 2002 Jan;16(1):24-8; discussion 29-30

University of Utah, Salt Lake City, Utah 84112-5880, USA.

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January 2002