Publications by authors named "Mary Beth Dinulos"

16Publications

The Impact of Direct-to-Consumer Genetic Testing on Patient and Provider.

Clin Lab Med 2020 03 7;40(1):61-67. Epub 2020 Jan 7.

Departments of Pediatrics and Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03576, USA.

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http://dx.doi.org/10.1016/j.cll.2019.11.003DOI Listing
March 2020

Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome.

J Hum Genet 2018 Dec 19;63(12):1231-1239. Epub 2018 Sep 19.

Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.

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http://dx.doi.org/10.1038/s10038-018-0506-zDOI Listing
December 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Genet Med 2018 09 4;20(9):965-975. Epub 2018 Jan 4.

Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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http://www.nature.com/articles/gim2017221
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http://dx.doi.org/10.1038/gim.2017.221DOI Listing
September 2018

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

Am J Med Genet A 2017 Jul 2;173(7):1848-1857. Epub 2017 May 2.

Department of Pathology, University of Washington School of Medicine, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38254DOI Listing
July 2017

Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases.

Sci Rep 2017 01 4;7:39636. Epub 2017 Jan 4.

Department of Medicine, Geisel School of Medicine at Dartmouth, Lebanon, 03756, NH, USA.

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http://dx.doi.org/10.1038/srep39636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209734PMC
January 2017

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

Am J Hum Genet 2016 05 28;98(5):909-918. Epub 2016 Apr 28.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1016/j.ajhg.2016.03.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863664PMC
May 2016

Direct-to-consumer genotyping: are we ready for a brave new world?

Clin Chem 2010 Jul 28;56(7):1056-60. Epub 2010 May 28.

C.E.O., Interleukin Genetics, Inc., Waltham, MA, USA.

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http://dx.doi.org/10.1373/clinchem.2009.138743DOI Listing
July 2010

Improving genetic health care: a Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability.

Am J Med Genet C Semin Med Genet 2009 Aug;151C(3):241-54

Division of Clinical Genetics, Department of Pediatrics, Dartmouth Medical School, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.

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http://dx.doi.org/10.1002/ajmg.c.30221DOI Listing
August 2009

A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female.

Mol Genet Metab 2006 Jul 3;88(3):272-9. Epub 2006 Feb 3.

Department of Human Genetics, David Geffen School of Medicine at the University of California, Los Angeles, CA 90095-7088, USA.

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http://dx.doi.org/10.1016/j.ymgme.2005.12.004DOI Listing
July 2006

Introduction: genetic principles, approaches and technologies.

Clin Dermatol 2005 Jan-Feb;23(1):2-5

Department of Pediatrics, Section of Genetics and Child Development, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire 03756, USA.

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http://dx.doi.org/10.1016/j.clindermatol.2004.09.004DOI Listing
June 2005

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Am J Hum Genet 2003 Feb 27;72(2):408-18. Epub 2002 Nov 27.

Department of Pediatrics, Center for Craniofacial Development and Disorders, McKusick-Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970760549
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http://dx.doi.org/10.1086/346090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC379233PMC
February 2003