Publications by authors named "Daniel Rocha Carvalho"

9Publications

Unique skeletal manifestations in patients with Primrose syndrome.

Authors:
Veronica Arora Eyby Leon Jullianne Diaz Hanne Buciek Hove Daniel Rocha Carvalho Kenji Kurosawa Naoto Nishimura Gen Nishimura Renu Saxena Carlos Ferreira Ratna Dua Puri Ishwar C Verma

Eur J Med Genet 2020 Aug 27;63(8):103967. Epub 2020 May 27.

Institute of Medical Genetics and Genomics, New Delhi, India. Electronic address:

View Article and Find Full Text PDF
August 2020

Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair.

Authors:
Maria Dora Jazmin Lacarrubba-Flores Daniel Rocha Carvalho Erlane Marques Ribeiro Carolina Araujo Moreno Ana Carolina Esposito Fernando Augusto Lima Marson Thereza Loureiro Denise Pontes Cavalcanti

Am J Med Genet A 2018 09 2;176(9):1917-1928. Epub 2018 Aug 2.

Skeletal Dysplasia Group, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas [Unicamp], Campinas, São Paulo, Brazil.

View Article and Find Full Text PDF
September 2018

Serological prevalence of celiac disease in Brazilian population of multiple sclerosis, neuromyelitis optica and myelitis.

Authors:
Pérola de Oliveira Daniel Rocha de Carvalho Ivar Viana Brandi Riccardo Pratesi

Mult Scler Relat Disord 2016 Sep 26;9:125-8. Epub 2016 Jul 26.

Research Center on Chronic and Immunogenetic Diseases of the Faculty of Medicine, University of Brasilia, Brasilia, Brazil. Electronic address:

View Article and Find Full Text PDF
September 2016

The signature of craniofacial deformation in fibrodysplasia ossificans progressiva.

Authors:
Daniel Rocha Carvalho Luciano Farage Carlos Eduardo Speck-Martins

Am J Med Genet A 2012 Nov 17;158A(11):2977-8; author reply 2979-80. Epub 2012 Sep 17.

View Article and Find Full Text PDF
November 2012

Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.

Authors:
Daniel Rocha Carvalho Guilherme Dotto Brand Jaime Moritz Brum Reinaldo Issao Takata Carlos Eduardo Speck-Martins Riccardo Pratesi

Gene 2012 Nov 16;509(1):124-30. Epub 2012 Aug 16.

Genetic Unit, SARAH Rehabilitation Hospital, SMHS Quadra 501 Conj. A, Brasilia, Distrito Federal, 70335-901, Brazil.

View Article and Find Full Text PDF
November 2012

Tibial hemimelia in Langer-Giedion syndrome with 8q23.1-q24.12 interstitial deletion.

Authors:
Daniel Rocha Carvalho Savana Camilla Lima Santos Maria Dulce Valverde Oliveira Carlos Eduardo Speck-Martins

Am J Med Genet A 2011 Nov 21;155A(11):2784-7. Epub 2011 Sep 21.

Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, DF, Brazil.

View Article and Find Full Text PDF
November 2011

Additional features of unique Primrose syndrome phenotype.

Authors:
Daniel Rocha Carvalho Carlos Eduardo Speck-Martins

Am J Med Genet A 2011 Jun 12;155A(6):1379-83. Epub 2011 May 12.

Medical Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia-DF, Brazil.

View Article and Find Full Text PDF
June 2011

Craniofacial findings in fibrodysplasia ossificans progressiva: computerized tomography evaluation.

Authors:
Daniel Rocha Carvalho Luciano Farage Bernardo Jose Alves Ferreira Martins Carlos Eduardo Speck-Martins

Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011 Apr;111(4):499-502

Genetics Unit, SARAH Network of Rehabilitation Hospitals, Brasilia-DF, Brazil.

View Article and Find Full Text PDF
April 2011

Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.

Authors:
Daniel Rocha de Carvalho Natalia Freitas Rossi Silvana Schellini Danilo Moretti-Ferreira Antônio Richieri-Costa

Am J Med Genet A 2008 Aug;146A(16):2134-7

Departamento de Genética, Instituto de Biociências, Universidade Estadual Paulista/UNESP, Botucatu, SP, Brazil.

View Article and Find Full Text PDF
August 2008