Cynthia J Curry

Cynthia J Curry

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Cynthia J Curry

Cynthia J Curry

Publications by authors named "Cynthia J Curry"

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Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

Eur J Med Genet 2019 Jan 25. Epub 2019 Jan 25.

Mendelics Genomic Analysis, CEP 04013-000, São Paulo, SP, Brazil; Neurogenetics, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, SP, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.01.014DOI Listing
January 2019

Expansion of the phenotype of Kosaki overgrowth syndrome.

Am J Med Genet A 2017 Sep 22;173(9):2422-2427. Epub 2017 Jun 22.

Genetic Medicine, Community Regional Medical Center, University of California San Francisco/Fresno, Fresno, California.

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http://dx.doi.org/10.1002/ajmg.a.38310DOI Listing
September 2017

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.

J Med Genet 2016 06 15;53(6):427-30. Epub 2015 Dec 15.

Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA Genetic Medicine Central California, Fresno, California, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898782PMC
June 2016

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.

J Med Genet 2015 Jul 1;52(7):476-83. Epub 2015 Jun 1.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany Max Planck Institute for Molecular Genetics, Berlin, Germany Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2015-103108DOI Listing
July 2015

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Cell 2014 Sep;159(1):200-214

Program in Developmental Biology, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA; Program in Structural and Computational Biology and Molecular Biophysics, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2014.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4298142PMC
September 2014

Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.

Eur J Hum Genet 2013 Feb 27;21(2):233-6. Epub 2012 Jun 27.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1038/ejhg.2012.132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548259PMC
February 2013

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.

Genet Med 2013 Feb 3;15(2):153-6. Epub 2013 Jan 3.

Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.

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http://dx.doi.org/10.1038/gim.2012.165DOI Listing
February 2013

Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):158-69

Medical Genetics Branch of the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3717, USA.

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http://dx.doi.org/10.1002/ajmg.c.30235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815073PMC
February 2010

Elements of morphology: standard terminology for the lips, mouth, and oral region.

Am J Med Genet A 2009 Jan;149A(1):77-92

Division of Medical Genetics, Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah 84108, USA.

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http://dx.doi.org/10.1002/ajmg.a.32602DOI Listing
January 2009

Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.

Am J Med Genet A 2007 Oct;143A(19):2292-302

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.31934DOI Listing
October 2007

Risk factors for perinatal arterial stroke: a study of 60 mother-child pairs.

Pediatr Neurol 2007 Aug;37(2):99-107

Genetic Medicine Central California, Department of Pediatrics, University of California, San Francisco, California, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.04.007DOI Listing
August 2007

Mental retardation: diagnosis, management, and family support.

Curr Probl Pediatr Adolesc Health Care 2006 Apr;36(4):126-65

University of Texas Health Science Center, San Antonio, TX, USA.

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http://dx.doi.org/10.1016/j.cppeds.2005.11.005DOI Listing
April 2006

Introduction to Judith Hall Festschrift.

Am J Med Genet A 2006 Jan;140(2):111-3

Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31038DOI Listing
January 2006

Schizencephaly: heterogeneous etiologies in a population of 4 million California births.

Am J Med Genet A 2005 Aug;137(2):181-9

Genetic Medicine Central California, 351 East Barstow #106, Fresno, CA 93710, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30862
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http://dx.doi.org/10.1002/ajmg.a.30862DOI Listing
August 2005

Neonatal phenotype in Kabuki syndrome.

Am J Med Genet A 2005 Jan;132A(3):244-7

Department of Pediatrics, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.30336DOI Listing
January 2005

A tribute to Bryan D. Hall: Festschrift 2003.

Am J Med Genet A 2003 Nov;123A(1):1-4

Deparment of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1002/ajmg.a.20499DOI Listing
November 2003

Hypospadias in California: trends and descriptive epidemiology.

Epidemiology 2003 Nov;14(6):701-6

March of Dimes Birth Defect Foundation, California Birth Defects Monitoring Program, Oakland, California, USA.

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http://dx.doi.org/10.1097/01.ede.0000091603.43531.d0DOI Listing
November 2003

Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings.

Am J Med Genet 2002 Dec;113(4):351-61

International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/ajmg.b.10656DOI Listing
December 2002

Rational evaluation of the adolescent with mental retardation.

Authors:
Cynthia J Curry

Adolesc Med 2002 Jun;13(2):331-43, vii

Genetic Medicine, Children's Hospital Central, California 93638, USA.

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June 2002