Cathy A Stevens

Cathy A Stevens

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Cathy A Stevens

Cathy A Stevens

Publications by authors named "Cathy A Stevens"

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Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P]).

J Pediatr Hematol Oncol 2019 Apr 3. Epub 2019 Apr 3.

University of Tennessee College of Medicine Chattanooga, Chattanooga, TN.

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http://dx.doi.org/10.1097/MPH.0000000000001463DOI Listing
April 2019

Congenital lumbar hernia-A feature of diabetic embryopathy?

Am J Med Genet A 2018 11 1;176(11):2243-2249. Epub 2018 Oct 1.

Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.40381DOI Listing
November 2018

A Homozygous RET K666N Genotype With an MEN2A Phenotype.

J Clin Endocrinol Metab 2018 04;103(4):1269-1272

Department of Endocrine Neoplasia and Hormonal Disorders, The University of Texas, MD Anderson Cancer Center, Houston, Texas.

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http://dx.doi.org/10.1210/jc.2017-02402DOI Listing
April 2018

38th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2017 Annual Meeting.

Am J Med Genet A 2018 Apr 25:1463-1536. Epub 2018 Apr 25.

Division of Human Genetics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.38698DOI Listing
April 2018

Deletion upstream of SALL1 producing Townes-Brocks syndrome.

Am J Med Genet A 2016 Sep 8;170(9):2476-8. Epub 2016 Jun 8.

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.

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http://dx.doi.org/10.1002/ajmg.a.37786DOI Listing
September 2016

Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed.

J Clin Rheumatol 2016 Mar;22(2):92-3

From the Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/RHU.0000000000000367DOI Listing
March 2016

Intestinal malrotation in Rubinstein-Taybi syndrome.

Authors:
Cathy A Stevens

Am J Med Genet A 2015 Oct 19;167A(10):2399-401. Epub 2015 Jun 19.

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee.

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http://dx.doi.org/10.1002/ajmg.a.37167DOI Listing
October 2015

Café-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome.

Am J Med Genet A 2012 May 21;158A(5):1195-9. Epub 2012 Mar 21.

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.

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http://dx.doi.org/10.1002/ajmg.a.35297DOI Listing
May 2012

Adults with Rubinstein-Taybi syndrome.

Am J Med Genet A 2011 Jul 10;155A(7):1680-4. Epub 2011 Jun 10.

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, USA.

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http://dx.doi.org/10.1002/ajmg.a.34058DOI Listing
July 2011

New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies.

Am J Med Genet A 2010 Aug;152A(8):1915-8

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.

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http://dx.doi.org/10.1002/ajmg.a.33488DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3097391PMC
August 2010

Steinfeld syndrome: Further delineation.

Authors:
Cathy A Stevens

Am J Med Genet A 2010 Jul;152A(7):1789-92

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.

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http://dx.doi.org/10.1002/ajmg.a.33440DOI Listing
July 2010

Familial odontoid hypoplasia.

Am J Med Genet A 2009 Jun;149A(6):1290-2

Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.

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http://dx.doi.org/10.1002/ajmg.a.32860DOI Listing
June 2009

The hair collar sign.

Am J Med Genet A 2008 Feb;146A(4):484-7

Department of Pediatrics, T.C. Thompson Children's Hospital, University of Tennessee College of Medicine, Chattanooga, Tennessee 37403, USA.

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http://dx.doi.org/10.1002/ajmg.a.32161DOI Listing
February 2008

PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.

Am J Respir Crit Care Med 2006 Oct 27;174(8):923-7. Epub 2006 Jul 27.

Adelaide Institute for Sleep Health, Repatriation General Hospital, Daw Park, South Australia, Australia, and Sleep Disorders Division, Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.

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http://dx.doi.org/10.1164/rccm.200605-607CRDOI Listing
October 2006

Ser351Cys mutation in the fibroblast growth factor receptor 2 gene results in severe Pfeiffer syndrome.

Clin Dysmorphol 2006 Jul;15(3):187-8

Department of Pediatrics, Chattanooga Unit of the University of Tennessee College of Medicine, Chattanooga, Tennessee 37403, USA.

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http://dx.doi.org/10.1097/01.mcd.0000198930.32200.73DOI Listing
July 2006

Significance of bifid epiglottis.

Am J Med Genet A 2005 May;134(4):447-9

Department of Pediatrics, Chattanooga Unit, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA.

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http://dx.doi.org/10.1002/ajmg.a.30659DOI Listing
May 2005

Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.

Am J Med Genet A 2004 Feb;125A(1):12-6

Department of Pediatrics, Chattanooga Unit, University of Tennessee College of Medicine and T. C. Thompson Children's Hospital, Chattanooga, Tennessee 37403, USA.

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http://dx.doi.org/10.1002/ajmg.a.20417DOI Listing
February 2004

Rubinstein-Taybi syndrome medical guidelines.

Am J Med Genet A 2003 Jun;119A(2):101-10

Children's Hospital Medical Center, Division of Developmental Disabilities, 3333 Burnet Ave., Cincinnati, Ohio 45229, USA.

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http://doi.wiley.com/10.1002/ajmg.a.10009
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http://dx.doi.org/10.1002/ajmg.a.10009DOI Listing
June 2003

Ablepharon-macrostomia syndrome.

Am J Med Genet 2002 Jan;107(1):30-7

Department of Pediatrics, University of Tennessee College of Medicine-Chattanooga Unit and T.C. Thompson Children's Hospital, Chattanooga, Tennessee 37403, USA.

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http://dx.doi.org/10.1002/ajmg.10123DOI Listing
January 2002