Clinical Features and Neurologic Progression of Hyperargininemia
Carvalho, Daniel R., MD, MSc, Brum, Jaime M., MD, PhD, Speck-Martins, Carlos E., MD, PhD, Ventura, Fabrício D., MD, Navarro, Mônica M.M., MD, Coelho, Kátia E.F.A., MD, Portugal, Dalton, MD, Pratesi, Riccardo, MD, PhD
Published in Pediatric neurology (01.06.2012)
Published in Pediatric neurology (01.06.2012)
Get full text
Journal Article
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype
Abe, Kikue Terada, Rizzo, Isabela M. P. O., Coelho, Ana L. V., Sakai, Nilo, Carvalho, Daniel R., Speck‐Martins, Carlos E.
Published in Clinical case reports (01.07.2018)
Published in Clinical case reports (01.07.2018)
Get full text
Journal Article
Mutations in ZBTB20 cause Primrose syndrome
Cordeddu, Viviana, Redeker, Bert, Stellacci, Emilia, Jongejan, Aldo, Fragale, Alessandra, Bradley, Ted E J, Anselmi, Massimiliano, Ciolfi, Andrea, Cecchetti, Serena, Muto, Valentina, Bernardini, Laura, Azage, Meron, Carvalho, Daniel R, Espay, Alberto J, Male, Alison, Molin, Anna-Maja, Posmyk, Renata, Battisti, Carla, Casertano, Alberto, Melis, Daniela, van Kampen, Antoine, Baas, Frank, Mannens, Marcel M, Bocchinfuso, Gianfranco, Stella, Lorenzo, Tartaglia, Marco, Hennekam, Raoul C
Published in Nature genetics (01.08.2014)
Published in Nature genetics (01.08.2014)
Get full text
Journal Article
Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1
Carvalho, Daniel R., Speck‐Martins, Carlos E., Brum, Jaime M., Ferreira, Carlos R., Sobreira, Nara L. M.
Published in American journal of medical genetics. Part A (01.07.2020)
Published in American journal of medical genetics. Part A (01.07.2020)
Get full text
Journal Article
Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant
Carvalho, Daniel R., Speck-Martins, Carlos E., Martins, Bernardo J. A. F., Izumi, Ana Paula, La Rocque-Ferreira, Alessandra
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2023)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.06.2023)
Get full text
Journal Article
Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency
Huemer, Martina, Carvalho, Daniel R., Brum, Jaime M., Ünal, Özlem, Coskun, Turgay, Weisfeld-Adams, James D., Schrager, Nina L., Scholl-Bürgi, Sabine, Schlune, Andrea, Donner, Markus G., Hersberger, Martin, Gemperle, Claudio, Riesner, Brunhilde, Ulmer, Hanno, Häberle, Johannes, Karall, Daniela
Published in Journal of inherited metabolic disease (01.05.2016)
Published in Journal of inherited metabolic disease (01.05.2016)
Get full text
Journal Article
Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant
Carvalho, Daniel R., Medeiros, João Eugenio G., Ribeiro, Daniela Sebestyan M., Martins, Bernardo J.A.F., Sobreira, Nara L.M.
Published in European journal of medical genetics (01.03.2018)
Published in European journal of medical genetics (01.03.2018)
Get full text
Journal Article
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome
VIEIRA, Gustavo H, RODRIGUEZ, Jayson D, WALZ, Katherina, MORETTI-FERREIRA, Danilo, SRIVASTAVA, Anand K, CARMONA-MORA, Paulina, LEI CAO, GAMBA, Bruno F, CARVALHO, Daniel R, REZENDE DUARTE, Andréa De, SANTOS, Suely R, DE SOUZA, Deise H, DUPONT, Barbara R
Published in European journal of human genetics : EJHG (01.02.2012)
Published in European journal of human genetics : EJHG (01.02.2012)
Get full text
Journal Article
Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome
Vieira, Gustavo H., Cook, Melissa M., Ferreira De Lima, Renata L., Frigério Domingues, Carlos E., de Carvalho, Daniel R., Soares de Paiva, Isaias, Moretti-Ferreira, Danilo, Srivastava, Anand K.
Published in Molecular syndromology (01.02.2015)
Published in Molecular syndromology (01.02.2015)
Get full text
Journal Article
Mandibular hypoplasia in fibrodysplasia ossificans progressiva causing obstructive sleep apnoea with pulmonary hypertension
Carvalho, Daniel R, Pinnola, Giulio C, Ferreira, Danielle R A, Beraldo, Paulo S S, Coelho, Claudia V C, Farage, Luciano, Takata, Reinaldo I, Speck-Martins, Carlos E
Published in Clinical dysmorphology (01.04.2010)
Published in Clinical dysmorphology (01.04.2010)
Get more information
Journal Article
Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis
Carvalho, Daniel R, Trad, Clovis S, Pina-Neto, João M
Published in Arquivos de neuro-psiquiatria (01.06.2006)
Published in Arquivos de neuro-psiquiatria (01.06.2006)
Get full text
Journal Article
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
Get full text
Journal Article
Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome
Beauregard-Lacroix, Éliane, Scott, Alexandra, Nguyen, Thi Tuyet Mai, Wierenga, Klaas J., Purcarin, Gabriela, Karstensen, Anne B., Carvalho, Daniel R., Alessandri, Jean-Luc, Payet, Frédérique, Girisha, Katta M., Ferron, Mathieu, Campeau, Philippe M.
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
Get full text
Journal Article
3D Flash LiDAR Object Detection and Tracking on Edge Hardware
Lompado, Art, Carvalho, Daniel R. M., Brown, Jarrod P.
Published in NAECON 2024 - IEEE National Aerospace and Electronics Conference (15.07.2024)
Published in NAECON 2024 - IEEE National Aerospace and Electronics Conference (15.07.2024)
Get full text
Conference Proceeding
Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose
Daniel R. Carvalho, Clovis S. Trad, João M. Pina-Neto
Published in Arquivos de neuro-psiquiatria (01.06.2006)
Published in Arquivos de neuro-psiquiatria (01.06.2006)
Get full text
Journal Article
Analysis of IL-1α, IL-1β, and IL-RA Polymorphisms in Dysthymia
Fertuzinhos, Sofia M. M., Oliveira, João R. M., Nishimura, Agnes L., Pontual, Deyse, Carvalho, Daniel R., Sougey, Everton B., Otto, Paulo A., Zatz, Mayana
Published in Journal of molecular neuroscience (01.01.2004)
Published in Journal of molecular neuroscience (01.01.2004)
Get full text
Journal Article