Maria Blazo

Maria Blazo

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Maria Blazo

Maria Blazo

Publications by authors named "Maria Blazo"

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18Publications

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Severe aortic root dilatation in infantile Marfan syndrome.

Proc (Bayl Univ Med Cent) 2019 Oct 12;32(4):561-563. Epub 2019 Aug 12.

College of Medicine, Texas A&M University Health Science CenterBryanTexas.

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http://dx.doi.org/10.1080/08998280.2019.1646594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6793975PMC
October 2019

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.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

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.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Long QT Manifested as Giant and Inverted T Waves With a SCN5A Mutation.

J Cardiovasc Electrophysiol 2016 12 25;27(12):1490-1491. Epub 2016 Aug 25.

Cardiovascular Diseases, Baylor Scott and White Hospital, Temple, Texas, USA.

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http://doi.wiley.com/10.1111/jce.13053
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http://dx.doi.org/10.1111/jce.13053DOI Listing
December 2016

Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in .

Mol Genet Metab Rep 2015 Sep;4:89-91

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA 77030.

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http://dx.doi.org/10.1016/j.ymgmr.2015.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4563870PMC
September 2015

Congenital lingual hemihyperplasia, Horner's syndrome, and agenesis of the internal carotid artery.

Pediatr Neurol 2014 Jul 30;51(1):176-7. Epub 2014 Mar 30.

Department of Genetics, Baylor Scott & White Health, Texas A&M Health Science Center College of Medicine, Temple, Texas.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.03.024DOI Listing
July 2014

Inactivation of Cdc42 in neural crest cells causes craniofacial and cardiovascular morphogenesis defects.

Dev Biol 2013 Nov 18;383(2):239-52. Epub 2013 Sep 18.

Department of Medical Physiology, College of Medicine, Texas A & M University Health Science Center, Temple, TX 76504, USA.

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http://dx.doi.org/10.1016/j.ydbio.2013.09.013DOI Listing
November 2013

The practice of adult genetics: a 7-year experience from a single center.

Am J Med Genet A 2013 Jan 13;161A(1):89-93. Epub 2012 Dec 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35684
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http://dx.doi.org/10.1002/ajmg.a.35684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859647PMC
January 2013

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

Mol Genet Metab 2011 Aug 7;103(4):383-7. Epub 2011 May 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921100135
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http://dx.doi.org/10.1016/j.ymgme.2011.04.018DOI Listing
August 2011

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.

Am J Med Genet A 2011 Jun 12;155A(6):1465-8. Epub 2011 May 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.33935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651890PMC
June 2011

Pheochromocytoma and Von Hippel-Lindau in pregnancy.

Am J Perinatol 2010 Mar 26;27(3):257-63. Epub 2009 Sep 26.

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1055/s-0029-1239489DOI Listing
March 2010

Generalized metabolic bone disease in Neurofibromatosis type I.

Mol Genet Metab 2008 May 4;94(1):105-11. Epub 2008 Mar 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 635E, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2430595PMC
May 2008

Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.

J Mol Diagn 2005 Oct;7(4):525-34

Diagnostic Sequencing Laboratory, Medical Genetics Laboratories, Baylor College of Medicine-NAB 2015, One Baylor Plaza, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1888496PMC
http://dx.doi.org/10.1016/S1525-1578(10)60584-3DOI Listing
October 2005

A homozygous mutation in MSH6 causes Turcot syndrome.

Clin Cancer Res 2005 Jul;11(13):4689-93

Diagnostic Sequencing Laboratory, Department of Molecular and Human Genetics and Texas Children's Cancer Center, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1158/1078-0432.CCR-04-2025DOI Listing
July 2005

Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.

Am J Med Genet A 2004 Feb;124A(4):392-6

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.20428DOI Listing
February 2004