Publications by authors named "Maria Blazo"

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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.
Jung-Wan Mok, Laura Mackay, Maria Blazo, Elizabeth Mizerik, Jozef Gecz

Genet Med· July 2025

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Maria Blazo

Mol Psychiatry· February 2023

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Severe aortic root dilatation in infantile Marfan syndrome.
Renita A Thomas, Chikamuche T Anyanwu, Maria Blazo, Saradha Subramanian

Proc (Bayl Univ Med Cent)· October 2019

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Maria A Blazo

Genet Med· April 2019

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Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Maria A Blazo

Genet Med· March 2019

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Long QT Manifested as Giant and Inverted T Waves With a SCN5A Mutation.
Keith Suarez, Maria Blazo, Javier E Banchs

J Cardiovasc Electrophysiol· December 2016

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Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in .
Rachel Pferdehirt, Mahim Jain, Maria A Blazo, Brendan Lee, Lindsay C Burrage

Mol Genet Metab Rep· September 2015

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Congenital lingual hemihyperplasia, Horner's syndrome, and agenesis of the internal carotid artery.
Jose L Aceves, Batool Kirmani, Maria Blazo

Pediatr Neurol· July 2014

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Inactivation of Cdc42 in neural crest cells causes craniofacial and cardiovascular morphogenesis defects.
Yang Liu, Yixin Jin, Jieli Li, Edward Seto, Enoch Kuo, Maria Blazo

Dev Biol· November 2013

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Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.
Jay R Shapiro, Caressa Lietman, Monica Grover, James T Lu, Sandesh Cs Nagamani, Maria Blazo

J Bone Miner Res· July 2013

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The practice of adult genetics: a 7-year experience from a single center.
Tanya N Eble, Sandesh C S Nagamani, Luis M Franco, Sharon E Plon, Maria Blazo

Am J Med Genet A· January 2013

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Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.
Andrés Hernández-García, Erwin Brosens, Hitisha P Zaveri, Elisabeth M de Jong, Zhiyin Yu, Maria Blazo

Am J Med Genet A· July 2012

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Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.
Christian P Schaaf, Maria Blazo, Richard Alan Lewis, Ross E Tonini, Hidehiro Takei

Mol Genet Metab· August 2011

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Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.
Amy M Breman, Frank J Probst, Maria A Blazo, Christian P Schaaf, Erin K Roney

Am J Med Genet A· June 2011

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Pheochromocytoma and Von Hippel-Lindau in pregnancy.
Nonna Kolomeyevskaya, Maria Blazo, Ignatia Van den Veyver, Stacy Strehlow, Kjersti M Aagaard-Tillery

Am J Perinatol· March 2010

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Generalized metabolic bone disease in Neurofibromatosis type I.
Nicola Brunetti-Pierri, Stephen B Doty, John Hicks, Kelly Phan, Roberto Mendoza-Londono, Maria Blazo

Mol Genet Metab· May 2008

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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Jonathan S Berg, Nicola Brunetti-Pierri, Sarika U Peters, Sung-Hae L Kang, Chin-to Fong, Maria A Blazo

Genet Med· July 2007

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Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.
Madhuri Hegde, Maria Blazo, Belinda Chong, Tom Prior, Carolyn Richards

J Mol Diagn· October 2005

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A homozygous mutation in MSH6 causes Turcot syndrome.
Madhuri R Hegde, Belinda Chong, Maria E Blazo, Lip Hon E Chin, Patricia A Ward

Clin Cancer Res· July 2005

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Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.
Paolo Moretti, Maria Blazo, Leonardo Garcia, Dawna Armstrong, Richard Alan Lewis

Am J Med Genet A· February 2004

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