Publications by authors named "Cathy A Stevens"

36Publications

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Authors:
Félixe Pelletier Stefanie Perrier Ferdy K Cayami Amytice Mirchi Stephan Saikali Luan T Tran Nicole Ulrick Kether Guerrero Emmanouil Rampakakis Rosalina M L van Spaendonk Sakkubai Naidu Daniela Pohl William T Gibson Michelle Demos Cyril Goizet Ingrid Tejera-Martin Ana Potic Brent L Fogel Bernard Brais Michel Sylvain Guillaume Sebire Charles Marques Lourenço Joshua L Bonkowsky Coriene Catsman-Berrevoets Pedro S Pinto Sandya Tirupathi Petter Strømme Ton de Grauw Dorota Gieruszczak-Bialek Ingeborg Krägeloh-Mann Hanna Mierzewska Heike Philippi Julia Rankin Tahir Atik Brenda Banwell William S Benko Astrid Blaschek Annette Bley Eugen Boltshauser Drago Bratkovic Klara Brozova Icíar Cimas Christopher Clough Bernard Corenblum Argirios Dinopoulos Gail Dolan Flavio Faletra Raymond Fernandez Janice Fletcher Maria Eugenia Garcia Garcia Paolo Gasparini Janina Gburek-Augustat Dolores Gonzalez Moron Aline Hamati Inga Harting Christoph Hertzberg Alan Hill Grace M Hobson A Micheil Innes Marcelo Kauffman Susan M Kirwin Gerhard Kluger Petra Kolditz Urania Kotzaeridou Roberta La Piana Eriskay Liston William McClintock Meriel McEntagart Fiona McKenzie Serge Melançon Anjum Misbahuddin Mohnish Suri Fernando I Monton Sebastien Moutton Raymond P J Murphy Miriam Nickel Hüseyin Onay Simona Orcesi Ferda Özkınay Steffi Patzer Helio Pedro Sandra Pekic Mercedes Pineda Marfa Amy Pizzino Barbara Plecko Bwee Tien Poll-The Vera Popovic Dietz Rating Marie-France Rioux Norberto Rodriguez Espinosa Anne Ronan John R Ostergaard Elsa Rossignol Rocio Sanchez-Carpintero Anna Schossig Nesrin Senbil Laura K Sønderberg Roos Cathy A Stevens Matthis Synofzik László Sztriha Daniel Tibussek Dagmar Timmann Davide Tonduti Bart P van de Warrenburg Maria Vázquez-López Sunita Venkateswaran Pontus Wasling Evangeline Wassmer Richard I Webster Gert Wiegand Grace Yoon Joost Rotteveel Raphael Schiffmann Marjo van der Knaap Adeline Vanderver Gabriel Á Martos-Moreno Constantin Polychronakos Nicole I Wolf Geneviève Bernard

J Clin Endocrinol Metab 2020 Oct 1. Epub 2020 Oct 1.

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

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October 2020

Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.

Am J Med Genet A 2020 04 31;182(4):623-627. Epub 2020 Jan 31.

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

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April 2020

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

J Pediatr Hematol Oncol 2020 05;42(4):e228-e230

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

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May 2020

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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November 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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April 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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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January 2002