Temis M Félix

Temis M Félix

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Temis M Félix

Temis M Félix

Publications by authors named "Temis M Félix"

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26Publications

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Identification of Novel and Recurrent Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.

Mol Syndromol 2020 Jan 15;10(5):255-263. Epub 2019 Aug 15.

Laboratório de Medicina Genômica, Centro de Genética Médica Dr. José Carlos Cabral de Almeida & Centro de Referência para Doenças Raras, IFF/FIOCRUZ, Rio de Janeiro, Brazil.

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http://dx.doi.org/10.1159/000501892DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6997793PMC
January 2020

Difference between Methods for Estimation of Basal Metabolic Rate and Body Composition in Pediatric Patients with Osteogenesis Imperfecta.

Ann Nutr Metab 2018 21;72(1):21-29. Epub 2017 Dec 21.

Postgraduate Program in Child and Adolescent Health, University of Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.1159/000481918DOI Listing
August 2019

Collagen I Defect Corneal Profiles in Osteogenesis Imperfecta.

Cornea 2018 Dec;37(12):1561-1565

Medical Genetics Service, Clinical Hospital of Porto Alegre, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.

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http://Insights.ovid.com/crossref?an=00003226-900000000-9672
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http://dx.doi.org/10.1097/ICO.0000000000001764DOI Listing
December 2018

Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.

Mol Syndromol 2015 Oct 3;6(4):164-72. Epub 2015 Sep 3.

Postgraduate Programs in Child and Adolescent Health, Porto Alegre, Brazil ; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.

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http://dx.doi.org/10.1159/000439506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662268PMC
October 2015

Genetic causes of intellectual disability in a birth cohort: a population-based study.

Am J Med Genet A 2015 Jun 27;167(6):1204-14. Epub 2015 Feb 27.

John A Scholl MD and Mary Louise Scholl MD Endowed Professor, Department of Pediatrics and Department of Epidemiology and Public Health, University of Maryland, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863139PMC
June 2015

Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta.

Health Qual Life Outcomes 2015 Apr 1;13:41. Epub 2015 Apr 1.

Postgraduate Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.1186/s12955-015-0226-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414300PMC
April 2015

Anthropometry, nutritional status, and dietary intake in pediatric patients with osteogenesis imperfecta.

J Am Coll Nutr 2014 ;33(1):18-25

a PostGraduate Program in Child and Adolescent Health, Federal University of Rio Grande do Sul , Porto Alegre , BRAZIL.

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http://dx.doi.org/10.1080/07315724.2013.827065DOI Listing
October 2014

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

BMC Med Genet 2009 Dec 14;10:136. Epub 2009 Dec 14.

Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1186/1471-2350-10-136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2801500PMC
December 2009

Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter syndrome.

Am J Med Genet A 2007 Apr;143A(8):895-8

Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.31659DOI Listing
April 2007

CHD7 gene and non-syndromic cleft lip and palate.

Am J Med Genet A 2006 Oct;140(19):2110-4

Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1002/ajmg.a.31308DOI Listing
October 2006

Serum S100B levels in patients with neural tube defects.

Clin Chim Acta 2006 Feb 6;364(1-2):275-8. Epub 2005 Sep 6.

Departamento de Bioquímica, ICBS, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1016/j.cca.2005.07.028DOI Listing
February 2006

Infantile Systemic Hyalinosis: report of three unrelated Brazilian children and review of the literature.

Clin Dysmorphol 2004 Oct;13(4):231-6

Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

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http://dx.doi.org/10.1097/00019605-200410000-00006DOI Listing
October 2004

Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma.

Clin Dysmorphol 2002 Jul;11(3):199-202

Clinical Hospital of Porto Alegre, Medical Genetics Service, Porto Alegre, Brazil.

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http://dx.doi.org/10.1097/00019605-200207000-00010DOI Listing
July 2002