Publications by authors named "Susan Kirwin"

13Publications

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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http://dx.doi.org/10.1210/clinem/dgaa700DOI Listing
October 2020

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

Am J Med Genet A 2015 Oct 6;167A(10):2286-93. Epub 2015 Aug 6.

Department of Biological Sciences, University of Delaware, Newark, Delaware.

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http://dx.doi.org/10.1002/ajmg.a.37182DOI Listing
October 2015

A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.

Mol Genet Genomic Med 2013 Jul 30;1(2):113-7. Epub 2013 May 30.

Molecular Diagnostics Laboratory, Nemours/Alfred I. duPont Hospital for Children Wilmington, Delaware, 19803.

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http://dx.doi.org/10.1002/mgg3.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865576PMC
July 2013

Tafazzin splice variants and mutations in Barth syndrome.

Mol Genet Metab 2014 Jan 19;111(1):26-32. Epub 2013 Nov 19.

Molecular Diagnostics Laboratory, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.11.006DOI Listing
January 2014

Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1.

Am J Med Genet A 2012 Dec 20;158A(12):3168-73. Epub 2012 Nov 20.

South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35456DOI Listing
December 2012

A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.

J Pediatr Endocrinol Metab 2012 ;25(7-8):741-6

Division of Endocrinology, Nemours/Alfred I. duPont Hospital for Children, P.O. Box 269, Wilmington, DE 19803, USA.

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http://dx.doi.org/10.1515/jpem-2012-0080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3694175PMC
January 2013

Brain-lung-thyroid disease: clinical features of a kindred with a novel thyroid transcription factor 1 mutation.

J Child Neurol 2012 Jan 3;27(1):68-73. Epub 2011 Aug 3.

Division of Movement Disorders, Department of Neurology, University of Louisville, Louisville, Kentucky, USA.

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http://dx.doi.org/10.1177/0883073811413584DOI Listing
January 2012

Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation.

Fertil Steril 2007 Apr 22;87(4):976.e5-7. Epub 2007 Jan 22.

Molecular Diagnostics Laboratory, Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19899, USA.

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http://dx.doi.org/10.1016/j.fertnstert.2006.07.1543DOI Listing
April 2007

Leptin enhances lung maturity in the fetal rat.

Pediatr Res 2006 Aug;60(2):200-4

Department of Biomedical Research and Pediatrics, Alfred I. duPont Hospital for Children/Nemours Children's Clinic, Delaware 19803, USA.

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http://dx.doi.org/10.1203/01.pdr.0000227478.29271.52DOI Listing
August 2006