Publications by authors named "Carol Clericuzio"

44Publications

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Am J Med Genet A 2020 Oct 24. Epub 2020 Oct 24.

Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61926DOI Listing
October 2020

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Am J Hum Genet 2020 05 2;106(5):596-610. Epub 2020 Apr 2.

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212265PMC
May 2020

Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy.

Am J Med Genet A 2016 Jan 17;170A(1):195-201. Epub 2015 Sep 17.

University of New Mexico Health Sciences Center, Albuquerque, New Mexico.

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http://dx.doi.org/10.1002/ajmg.a.37379DOI Listing
January 2016

Tumor-Induced Rickets Presenting in an Adolescent: A Case Report and Review of the Literature.

JBJS Case Connect 2014 Sep;4(3):e79-e6

Department of Orthopaedics and Rehabilitation (N.T.M. and E.A.S.) and Department of Pediatrics, Genetics and Dysmorphology (C.C.), University of New Mexico, MSC10 5600, 1 University of New Mexico, Albuquerque, NM 87131-0001. E-mail address for N.T. Morrell:

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http://dx.doi.org/10.2106/JBJS.CC.N.00006DOI Listing
September 2014

16 month-old female with intraventricular mass.

Brain Pathol 2011 May;21(3):349-50

Department of Neurosurgery, 1 University of New Mexico, Albuquerque, NM 87131-0001, USA.

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http://dx.doi.org/10.1111/j.1750-3639.2011.00482.xDOI Listing
May 2011

A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.

Am J Med Genet A 2011 Feb;155A(2):301-6

Division of Developmental Pediatrics, Department of Pediatrics, Hospital for Sick Children, and Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.33841
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http://dx.doi.org/10.1002/ajmg.a.33841DOI Listing
February 2011

Clinical utility gene card for: WAGR syndrome.

Eur J Hum Genet 2011 Apr 12;19(4). Epub 2011 Jan 12.

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

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http://dx.doi.org/10.1038/ejhg.2010.220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060328PMC
April 2011

Limb hyperplasia: case report of an unusual variant of Klippel-Trenaunay syndrome and review of the literature.

Cutis 2009 May;83(5):255-62

Department of Pathology, University of New Mexico Health Sciences Center, Albuquerque, NM 87131-0001, USA.

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May 2009

Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia.

Genet Med 2009 Mar;11(3):220-2

Department of Pediatrics, University of New Mexico Health Sciences Center, 1 University of New Mexico, Albuquerque, NM 87131-0001, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31819436cfDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111026PMC
March 2009

Elements of morphology: standard terminology for the hands and feet.

Am J Med Genet A 2009 Jan;149A(1):93-127

National Human Genome Research Institute, NIH, Bethesda, Maryland 20892-4472, USA.

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http://dx.doi.org/10.1002/ajmg.a.32596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224990PMC
January 2009

Acute lymphoblastic leukemia in a patient with Miller-Dieker syndrome.

J Pediatr Hematol Oncol 2008 Nov;30(11):865-8

Department of Pathology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.

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http://dx.doi.org/10.1097/MPH.0b013e31818a958aDOI Listing
November 2008

A new hypothesis of OCA1B.

Am J Med Genet A 2008 Nov;146A(22):2968-70

UC Denver DNA Diagnostic Laboratory, Department of Pediatrics, UC Denver School of Medicine, Aurora, CO, USA.

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http://dx.doi.org/10.1002/ajmg.a.32539DOI Listing
November 2008

Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway.

Am J Med Genet A 2008 Oct;146A(20):2589-97

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1002/ajmg.a.32503DOI Listing
October 2008

Pierre Robin sequence associated with first trimester fetal tamoxifen exposure.

Am J Med Genet A 2008 Aug;146A(16):2141-4

University of New Mexico School of Medicine, Albuquerque, New Mexico 87131-0001, USA.

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http://dx.doi.org/10.1002/ajmg.a.32432DOI Listing
August 2008

Deaths due to choking in Prader-Willi syndrome.

Am J Med Genet A 2007 Mar;143A(5):484-7

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1002/ajmg.a.31502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243066PMC
March 2007

Risk for leukemia in infants without Down syndrome who have transient myeloproliferative disorder.

J Pediatr 2006 May;148(5):687-9

Department of Pediatrics, Division of Genetics and Metabolism, Stanford University Medical Center, Stanford, California, USA.

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http://dx.doi.org/10.1016/j.jpeds.2005.12.031DOI Listing
May 2006

Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.

Am J Med Genet A 2005 Aug;137(2):117-24

Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.30580DOI Listing
August 2005

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.

Pediatrics 2004 Aug;114(2):451-7

Department of Pediatrics, Division of Medical Genetics, H-315, Stanford University School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1542/peds.114.2.451DOI Listing
August 2004

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

Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion.

Am J Med Genet A 2003 Nov;123A(1):72-8

Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California 94305-5208, USA.

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http://dx.doi.org/10.1002/ajmg.a.20503DOI Listing
November 2003

Athabascan brainstem dysgenesis syndrome.

Am J Med Genet A 2003 Jul;120A(2):169-73

Tuba City Indian Medical Center, Tuba City, Arizona 86045, USA.

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http://dx.doi.org/10.1002/ajmg.a.20087DOI Listing
July 2003