Publications by authors named "Carol Crowe"

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Cornelia de Lange syndrome in diverse populations.
Leah Dowsett, Antonio R Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Carol Crowe

Am J Med Genet A· February 2019

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Left ventricular dysfunction in duchenne muscular dystrophy and genotype.
Mahi L Ashwath, Irwin B Jacobs, Carol A Crowe, Ravi C Ashwath, Dennis M Super

Am J Cardiol· July 2014

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Duplication of the pituitary gland associated with multiple blastogenesis defects: Duplication of the pituitary gland (DPG)-plus syndrome. Case report and review of literature.
Sunil Manjila, Erin A Miller, Sumeet Vadera, Rishi K Goel, Fahd R Khan, Carol Crowe

Surg Neurol Int· October 2012

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Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
Robert D S Pitceathly, Sinéad M Murphy, Ellen Cottenie, Annapurna Chalasani, Mary G Sweeney, Carol Crowe

Neurology· September 2012

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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Johann Böhm, Valérie Biancalana, Elizabeth T Dechene, Marc Bitoun, Christopher R Pierson, Carol A Crowe

Hum Mutat· June 2012

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Germline mosaicism in Cornelia de Lange syndrome.
Thomas P Slavin, Noam Lazebnik, Dinah M Clark, Jaime Vengoechea, Leslie Cohen, Carol A Crowe

Am J Med Genet A· June 2012

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Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Juergen Scharner, Charlotte A Brown, Matthew Bower, Susan T Iannaccone, Ismail A Khatri, Carol A Crowe

Hum Mutat· February 2011

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Cardiac and pulmonary function variability in Duchenne/Becker muscular dystrophy: an initial report.
David J Birnkrant, Mahi Lakshmi Ashwath, Garey H Noritz, Michelle C Merrill, Tushar A Shah, Carol A Crowe

J Child Neurol· September 2010

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Regional genomic instability predisposes to complex dystrophin gene rearrangements.
Junko Oshima, Daniel B Magner, Jennifer A Lee, Amy M Breman, Eric S Schmitt, Carol A Crowe

Hum Genet· September 2009

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Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.
Naim Alkhouri, Barbara Kaplan, Marsha Kay, Amy Shealy, Carol Crowe

World J Gastroenterol· November 2008

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Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.
Stacey K H Tay, Sara Shanske, Carol Crowe, Alan Shanske, Irwin Schafer

J Child Neurol· February 2005

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Brown syndrome associated with velocardiofacial syndrome.
Susie Chang, Carol A Crowe, Elias I Traboulsi

J AAPOS· June 2004

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Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
M Andrew Nesbit, Michael R Bowl, Brian Harding, Asif Ali, Alejandro Ayala, Carol Crowe

J Biol Chem· May 2004

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Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation.
Ken Inoue, Konstantin Shilo, Cornelius F Boerkoel, Carol Crowe, Joram Sawady

Ann Neurol· December 2002

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