Publications by authors named "Cathy Stevens"

47Publications

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 Sébire 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 S van der Knaap Adeline Vanderver Gabriel Á Martos-Moreno Constantin Polychronakos Nicole I Wolf Geneviève Bernard

J Clin Endocrinol Metab 2021 Jan;106(2):e660-e674

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

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January 2021

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

The use of Lespedeza cuneata for natural control of gastrointestinal nematodes in Merino sheep.

Onderstepoort J Vet Res 2017 Apr 11;84(1):e1-e7. Epub 2017 Apr 11.

Dundee Research Station, KZN Department of Agriculture and Rural Development.

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April 2017

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