Carlos Eduardo Steiner

Scopus Publications

Molecular characterization of Alkaptonuria in Brazilian patients
Carolina Araújo Moreno, Ruy Pires de Oliveira Sobrinho, Josep Jorente, Simone Appenzeller, Nelma Gláucia Silva Meira, Lucas Cadete Caldeira Costa, Angelina Xavier Acosta, Mara Sanches Guaragna, Carlos Eduardo Steiner
Molecular Genetics and Metabolism Reports, 2026
Alkaptonuria is a rare inborn error of metabolism, with few reports from Brazil and typically lacking genotype descriptions in the Brazilian population. A retrospective study of clinical and molecular data of individuals with alkaptonuria submitted to whole genome sequencing. Five individuals from four unrelated families were enrolled, with ages ranging from 8 months to 61 years at first evaluation and currently ranging from 26 to 65 years. All presented a history of dark urine since infancy and accentuated elevation of homogentisic acid excretion in urine samples. In two consanguineous families from the State of Bahia, the c.847 A > T and c.899 T > G variants were identified in homozygous status in the HGD gene; one of the individuals also had a history of infertility and presented the homozygous c.537 + 1G > A variant in the STX2 gene. The two remaining families without consanguinity, both from the State of São Paulo, presented with a combination of the heterozygous variants c.508G > A and c.899 T > G in one individual, and deletion of exon 13 of the HGD gene in trans with the c.1007-172 A > G deep intronic variant as a possible causative variant in another patient. Although small, the present series represents the first cohort of Brazilian individuals with alkaptonuria investigated by genomic sequencing, identifying a common variant (c.899 T > G) in two families and three exonic and one deep intronic variant in the HGD gene, besides a possible double diagnosis comprising infertility due to a homozygous variant of uncertain significance in the STX2 gene.
Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders
Bruna Miranda Corso, Luiza de Oliveira Simões, Karina Montemor Klegen de Oliveira, Ana Mondadori dos Santos, Luise Longo Angeloni, Ruy Pires de Oliveira Sobrinho, Vera Lúcia Gil-da-Silva-Lopes, Antonia Paula Marques-de-Faria, Andréa Trevas Maciel Guerra, Gil Guerra-Junior, Alexander Augusto de Lima Jorge, Elisângela Pereira de Souza Quedas, Henrique Garcia Silveira, Giovana Toccoli, Maria Isabel Melaragno, , Mara Sanches Guaragna, Carlos Eduardo Steiner
Molecular Syndromology, 2026
Introduction: RASopathies are a heterogeneous group of conditions of the Ras/MAPK pathway presenting with overlapping features such as growth deficiency, neurodevelopmental disorders, cardiac defects, craniofacial dysmorphisms, cutaneous and ocular abnormalities, and increased cancer risk. Methods: This retrospective study analyzed the medical records regarding clinical and molecular data from 2018 to 2024 in a single center for rare diseases of individuals diagnosed with Noonan syndrome and related disorders previously submitted to diagnostic molecular analysis through Next Generation Sequencing techniques. Results: 24 patients were enrolled with an even sex ratio distribution and ages ranging from one month to 16 years at first evaluation. The main reason for referral was diagnostic assessment due to a combination of dysmorphic features (24/24; 100%), growth deficiency (18/24; 75%), neurodevelopmental disorders (15/24; 62.5%), and/or heart disease (13/24; 54.1%). Final diagnoses included 15 individuals with Noonan syndrome (nine with variants in PTPN11, two in SOS1, and one each in LZTR1, A2ML1, and MRAS, besides one with variants in both LZTR1 and SOS1), two with Noonan syndrome with multiple lentigines (both with variants in PTPN11), two with Neurofibromatosis-Noonan (NF1), two with Cardiofaciocutaneous syndrome (BRAF), and one each with Noonan syndrome-like with loose anagen hair (PPP1CB), Noonan syndrome-like (CBL), and Costello syndrome (HRAS); one individual presented with a double diagnosis of Noonan and Klinefelter syndromes. Discussion/Conclusion: Three pairs of unrelated patients presented recurrent variants in the PTPN11 gene, partially concordant in phenotypic correlation among the pairs but not fully concordant compared to previously described cases in the literature. Undescribed features in this group included myopathy and megacolon in a patient with Noonan syndrome-like, hypogonadotropic hypogonadism, and azoospermia in a patient with Noonan syndrome-like with loose anagen hair, and schizophrenia in a patient with Costello syndrome. One patient with Noonan syndrome had a novel variant of the A2ML1 gene (c.1829G>A), but the variant was strictly of uncertain significance, while c.2033G>A in the LZTR1 gene and c.1A>G in the NF1 gene are variants for the first time associated with features of Noonan syndrome.
From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal
Déborah Domeneghetti de Francisco, Isabela Mayá Wayhs Silva, Jorge M. Saraiva, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes
Clinics, 2026
• First study of NF1 patient experiences in the health systems of Brazil and Portugal. • Portuguese patients showed lower genetic and health literacy than Brazilians. • Access to neurologists and psychiatrists was a key barrier in both countries. • Despite economic differences, both nations face similar barriers in multidisciplinary care. • Findings highlight urgent need for national NF1 data and structured care pathways. Neurofibromatosis type 1 is a systemic genetic disease with manifestations that include neurocognitive alterations. The disease's characteristics influence various areas of the lives of affected individuals, regardless of their place of residence. This study compares the experiences of a small group of patients with type 1 neurofibromatosis in two public hospitals in Brazil and Portugal. This is an exploratory, cross-sectional, and descriptive study. Patients of legal age or those responsible for underage patients were included in a health service in the Clinical Hospital of the State University of Campinas in Brazil and the Clinical Academic Center of Coimbra in Portugal. They answered an online form about quality of life and access to health. 18 participants were included, 13 Brazilians and 5 Portuguese. Most were female and had a mean age at diagnosis of 8.2-years. The mean age of Brazilians was 9.1-years for the first consultation with a geneticist and 15.5-years among Portuguese. The average number of professionals accessed was 4.5 among Brazilians and 3.8 among Portuguese. Small sample size, restricted temporal aspect, convenience bias of participants with internet access, and self-declaration of data by participants. Both Brazilians and Portuguese participants with neurofibromatosis type 1 presented similar difficulties regarding access to health. The differences found between the participants from both countries focus on access to medical geneticists and their health literacy. Expanding studies would help identify care priorities related to the specificities of NF1 that could improve the quality of life of affected individuals.
Assessment of diagnostic yield and clinical utility of genome sequencing in critically ill infants
Carolina A. Moreno, Marina de França, Joana R. M. Prota, Michele P. Migliavacca, Anne C. B. Teixeira, Bruna M. C. de Azevedo, Lucas S. de Santana, Eduardo Perrone, Jéssica G. A. Espolaor, Luiza A. Virmond, Renata M. Minillo, Renata Y. Yamada, Vivian P. Cintra, Caio R. D. C. Quaio, José R. M. Ceroni, Kelin Chen, Thiago Y. T. Silva, Antonio V. C. Coelho, Gustavo S. de Oliveira, José B. Nascimento Junior, Livia M. S. Moura, Luciana S. Mofatto, Marcel P. Caraciolo, Rafael L. M. Guedes, Rodrigo A. S. Barreiro, Catarina S. Gomes, Roseli F. Rodrigues, Lucas R. Correia, Ana P. A. Oliveira, Carolina D. Carlos, Marina C. da Matta, Matheus M. Lima, Nuria B. Zurro, Ana F. M. Ferreira, Gabriela B. C. Colichio, Gabriela P. Campilongo, Renata M. R. da Silva, Letícia T. Ferreira, Priscila I. Higaki, Karla O. Pelegrino, Allan C. de Oliveira, Cecília Micheletti, Rodrigo A. Fock, Anna C. X. M. Sobreira, Andriene S. dos Santos, Raquel T. B. da Silva, Joselito Sobreira Filho, Mariane B. A. L. Laurentino, Paula T. Lyra, Ana L. G. Cunha, Camila C. M. Mendes, Joziele S. Lima, Carlos E. Steiner, Denise P. Cavalcanti, Julia L. Heleno, Chong A. Kim, Magda M. S. Carneiro-Sampaio, Werther B. de Carvalho, Ester S. Ramos, Marcela L. de Almeida, Mariana P. L. Ferriani, Tatiana F. de Almeida, João B. Oliveira
Pediatric Research, 2026
A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project
Carlos Eduardo Steiner, Maria Beatriz Puzzi, Antonia Paula Marques-de-Faria, Ruy Pires de Oliveira Sobrinho, Vera Lúcia Gil-da-Silva-Lopes, Carolina Araújo Moreno, and
Genes, 2025
Background/Objectives: Genodermatoses are genetic conditions with clinical symptoms manifesting in the skin and adjoining tissues, individually rare but comprising a large and heterogeneous group of disorders that represents 15% of genetic diseases. This article discusses the results of individuals with genodermatoses from a reference center for rare diseases studied through whole genome sequencing conducted by the Brazilian Rare Genomes Project between 2021 and 2023. Methods: A retrospective case series with data comprising sex, age at first assessment in the hospital, family history, clinical findings, and molecular results. Results: Excluding neurofibromatosis type 1, Ehlers–Danlos syndrome and RASopathies are discussed elsewhere. Diagnoses in this work comprised ectodermal dysplasias (n = 6), ichthyosis (n = 4), albinism (n = 4), tuberous sclerosis complex (n = 4), and incontinentia pigmenti (n = 3), in addition to 11 others with individual rare conditions. The sex ratio was 17:16 (M:F), consanguinity was present in 6/33 (18%), and the age at the first evaluation ranged from neonatal to 26 years (median 13.65 years). Negative results were 3/33 (9%), novel variants were 17/41 (41.4%), and 7/30 (23%) presented initially with a double molecular diagnosis, three confirming composed phenotypes. Conclusions: Besides reporting 17 novel variants in 14 genes (BLM, CACNA1B, EDA, ELN, ENG, ERC6, EVC2, PNPLA1, PITCH1, PORCN, SIN3A, TP63, TYR, and WNT10B), the study also identified three atypical clinical presentations due to dual diagnoses, and the c.454C>T variant in the SDR9C7 gene, previously reported only in dogs, was, for the first time, confirmed as causative for ichthyosis in humans.
Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report
Felício de Freitas Netto, Ruy Pires de Oliveira Sobrinho, Tatiana Ferreira de Almeida, Carlos Eduardo Steiner, and
Molecular Syndromology, 2025
Introduction: Osteogenesis imperfecta (OI) comprises a heterogeneous group of skeletal dysplasias characterized mainly by bone fragility and propensity to fractures. The most common forms include classic types I, II, III, and IV, according to the classification of Sillence, caused by variants in the COL1A1 or COL1A2 genes. This report describes a case series of patients with OI type I confirmed by whole genome sequencing, highlighting the clinical and radiological manifestations of one atypical family. Case Presentation: Six individuals (1M:5F), aged 8 months to 34 years at their first consultation, were enrolled. All were clinically classified as OI type I due to the presence of osteopenia associated with blue sclerae and bone fractures; four presented with short stature, two with hearing loss, and one with fragile teeth; molecular testing confirmed that all presented with heterozygous pathogenic or likely pathogenic variants in the COL1A1 gene. In one family, an unusual presentation was observed in the patient and her daughter, both of whom presented with severe short stature (Z-score <−6), abnormal skull shape (bathrocephaly), codfish vertebrae, bowing of the long bones in the lower limbs, and serpentine fibulas. Conclusion: Bathrocephaly and serpentine fibula are rarely reported in classical OI types and are more frequently associated with other skeletal dysplasias, such as Hajdu-Cheney syndrome. This case report highlights the importance of recognizing underrated manifestations in OI and underscores the need for molecular confirmation.
Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome
Ruy Pires de Oliveira-Sobrinho, , Társis Paiva Vieira, Carlos Eduardo Steiner
Molecular Syndromology, 2024
Background: MOMO syndrome is a rare disorder with variable presentation and unknown etiology belonging to the overgrowth syndromes group. Case Presentation: The authors describe a patient presenting with severe developmental delay, absent speech, autism spectrum disorder, central nervous system malformations, bilateral optic atrophy, and postnatal overgrowth, besides a dysmorphic and progressive coarse face. A clinical diagnosis of MOMO syndrome was proposed, but he developed megaesophagus, megacolon, paraparesis, and severe acne during the clinical follow-up, which are not described in this condition. Whole-genome sequencing detected a deletion of 11.9 Mb at 3q13.2q21.2 comprising 80 genes, including the ZBTB20 gene associated with Primrose syndrome. Conclusion: Despite the atypical manifestations in this patient, the overlapping features between MOMO syndrome, Primrose syndrome, and 3q13.31 deletion led the authors to propose that MOMO syndrome could be part of the Primrose/3q13.31 microdeletion syndrome spectrum.
Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome
Karina Montemor Klegen de Oliveira, Luiza de Oliveira Simões, Ana Mondadori dos Santos, Carlos Eduardo Steiner
Cytogenetic and Genome Research, 2024
Introduction: Williams-Beuren syndrome is a contiguous gene syndrome caused by microdeletion of the locus 7q11.23. It is a clinically recognizable condition whose cardinal features include growth deficiency, variable degrees of neurodevelopmental disorders, congenital cardiac defects, outgoing personality, and typical facies. Case Series Presentation: This retrospective study analyzed 38 consecutive patients in a single center for rare diseases, diagnosed by Preus criteria modified by the Sugayama scoring system, comprising 17 male and 21 female individuals aged 1 month to 55 years. Cases were divided into two groups concerning (a) exclusive clinical diagnosis or (b) clinical diagnosis followed by a laboratory cytogenetic or cytogenomic test; except for hypertension, no significant difference was seen among both groups. The most frequent findings were intellectual deficiency, developmental delay, typical facies, and overfriendliness, all above 80% of the total sample. On the other hand, supravalvar aortic stenosis was found in only 32.4%, while other congenital heart diseases were seen in 56.7% of the sample. Unusual features included one individual with 13 pairs of ribs, another with unilateral microphthalmia, and three with unilateral renal agenesis. Comorbidities comprised 9 cases of hypothyroidism and 1 case each of precocious puberty, segmental vitiligo, type 1 diabetes mellitus, and congenital adrenal hyperplasia. Conclusion: Preus criteria modified by the Sugayama scoring system are still efficient and helpful for clinical diagnosis. This is the second report on microphthalmia and the first study describing the association between vitiligo, type 1 diabetes mellitus, and congenital adrenal hyperplasia in individuals with Williams-Beuren syndrome.
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network
Bibiana Mello de Oliveira, Filipe Andrade Bernardi, João Francisco Baiochi, Mariane Barros Neiva, Milena Artifon, Alberto Andrade Vergara, Ana Maria Martins, Anete Sevciovic Grumach, Angelina Xavier Acosta, Antonette Souto El Husny, Bethania de Freitas Rodrigues Ribeiro, Camila Ferreira Ramos, Carlos Eduardo Steiner, Chong Ae Kim, Denise Maria Christofolini, Diego Bettiol Yamada, Ellaine Doris Fernandes Carvalho, Erlane Marques Ribeiro, Fabíola de Arruda Bastos, Faradiba Sarquis Serpa, Flávia Reseda Brandão, Giselle Maria Araujo Felix Adjuto, Isabelle Carvalho, Jonas Alex Morales Saute, Juan Clinton Llerena Junior, Larissa Souza Mario Bueno, Luiz Carlos Santana da Silva, Mara Lucia Schmitz Ferreira Santos, Marcela Câmara Machado Costa, Marcia Maria Costa Giacon Giusti, Marcial Francis Galera, Márcio Eloi Colombo Filho, Maria Denise Fernandes Carvalho de Andrade, Maria Teresinha De Oliveira Cardoso, Marilaine Matos de Menezes Ferreira, Michelle Zeny, Milena Coelho Fernandes Caldato, Ney Boa Sorte, Nina Rosa de Castro Musolino, Paula Frassinetti Vasconcelos de Medeiros, Paulo Ricardo Gazzola Zen, Raquel Tavares Boy Da Silva, Rayana Elias Maia, Rodrigo Fock, Rosemarie Elizabeth Schimidt Almeida, Solange Oliveira Rodrigues Valle, Tatiana Amorim, Thaís Bomfim Teixeira, Vania Mesquita Gadelha Prazeres, Victor Evangelista de Faria Ferraz, Vinicius Costa Lima, Wagner José Martins Paiva, Ida Vanessa Doederlein Schwartz, Domingos Alves, Têmis Maria Félix, Raras Network Group, Adlya de Sousa Melo, Adrya Rafaela da Silva Rocha, Amanda Aragão, Amanda Delfino Braccini, Amanda Maria Schmidt, Ana Mondadori dos Santos, Ana Carolina de Souza e Silva, Ana Catarina Góes Leite Lima, Anna Luiza Scasso, Anne Caroline Magalhães Oliveira, Arthur Perico, Bárbara da Silva Aniceto, Barbara Pinheiro, Beatriz Ono Badaró, Beatriz Brasil Braga, Beatriz de Oliveira Chapiesk, Beatriz Felix Pinheiro, Beatriz Pereira, Betânia de Souza Ponce, Bianca Martins, Blenda Antunes Cacique Curçino de Eça, Bruna de Souza, Brunno Busnardo Paschoalino, Bruno Valadares, Caio Lôbo de Oliveira, Camila Sales, Carine Pacheco Alexandre, Carla Desengrini Girelli, Carolina Balluz, Carolina de Paiva Farias, Carolina Oliveira Vilemar, Caroline Duarte Arrigoni, Catharina de Almeida Passos, Catharine Harumi, Cleber Barbieri, Daniel Prado, Daniela Monteiro, Dhallya Andressa da Silva Cruz, Eduardo Batista, Eduardo José Pereira Naves, Elaine Samara Pinheiro Mendes da Silva, Estela Teixeira, Fabio Amaral, Fernanda Caroline Moreira, Flavia Liberato de Souza, Flavia Boggian, Francisco André Gomes Bastos Filho, Gabriel Lima Lôla, Gabriel Pereira, Gabrielle Diehl, Giovanna Pessanha Cordeiro, Giulia Duran, Gustavo Foz Fonseca, Helena Mello, Henrique Serpa, Henrique Veiga, Ingrid Gabriel, Isabella Formenti, Isabella de Brito Ramos, Isabella Ramos Paiva, Janaina Ferreira, Jannine Barboza Rangel, Jôbert Pôrto Florêncio, Josevaldo Monteiro Maia Filho, Júlia Emily Silva Dantas, Julia Cordeiro Milke, Juliana Rios, Julya Pavao, Kahue Aluaxe Angelo, Karina Montemor Klegen de Oliveira, Katheryne Barbosa de Carvalho, Kauanne Zulszeski, Leticia Raabe Mota de Lima, Livia Polisseni Cotta Nascimento, Lorena Alves dos Santos Pereira, Lorenzo Makariewicz, Luan Junio Pereira Bittencourt, Luana Medeiros, Luana Souza Vasconcelos, Lucca Nogueira Paes Jannuzzi, Luciana Costa Pinto da Silva, Luisa Aguilar, Luiza Valeria Chibicheski, Luiza de Oliveira Simões, Maria Teresa Aires Cabral Dias, Mariana Lopes dos Santos, Mariana Pacheco Oliveira Neves, Marina Teixeira Henriques, Matheus Viganô Leal, Milena Atique Tacla, Milena Soares Souza, Moises Ribeiro da Paz, Morya Silva, Natan Soares, Nicole da Silva Gilbert, Otavio Mauricio Silva, Paula Dourado Sousa, Paulo Rocha, Raissa Emanuelle Jacob, Raissa Vieira Leite da Silva, Raniery Barros Carvalho, Raphaella Nagib Carvalho Santos, Raquel Silva, Rebeca Pedrosa Holanda, Rebeca Falcão Lopes Mourão, Ricardo Cunha de Oliveira, Rodrigo Mesquita Costa Braga, Sabrina Macely, Sergio Morais, Sheila Constância Adolfo Mabote Mucumbi, Simei Nhime, Stefanny Karla Ferreira de Sousa, Tauane Franca Rego, Thayane Holanda Gurjão, Thuanne Cidreira dos Santos Gomes, Tiago Ramos Gazineu, Victória Scheibe Machado, Victória Feitosa Muniz, Victória Rocha, Vitor Leão, Wendyson Oliveira, Willian Miguel, Yasmin de Araújo Ribeiro, Yasmin Amorim dos Santos
Orphanet Journal of Rare Diseases, 2024
Background The Brazilian Policy for Comprehensive Care for People with Rare Diseases was implemented in 2014; however, national epidemiological data on rare diseases (RDs) are scarce and mainly focused on specific disorders. To address this gap, University Hospitals, Reference Services for Neonatal Screening, and Reference Services for Rare Diseases, all of which are public health institutions, established the Brazilian Rare Diseases Network (RARAS) in 2020. The objective of this study was to perform a comprehensive nationwide epidemiological investigation of individuals with RDs in Brazil. This retrospective survey collected data from patients receiving care in 34 healthcare facilities affiliated with RARAS in 2018 and 2019. Results The survey included 12,530 participants with a median age of 15.0 years, with women representing 50.5% of the cohort. Classification according to skin color demonstrated that 5044 (47.4%) participants were admixed. Most had a confirmed diagnosis (63.2%), with a predominance of phenylketonuria (PKU), cystic fibrosis (CF), and acromegaly. Common clinical manifestations included global developmental delay and seizures. The average duration of the diagnostic odyssey was 5.4 years (± 7.9 years). Among the confirmed diagnoses, 52.2% were etiological (biochemical: 42.5%; molecular: 30.9%), while 47.8% were clinical. Prenatal diagnoses accounted for 1.2%. Familial recurrence and consanguinity rates were 21.6% and 6.4%, respectively. Mainstay treatments included drug therapy (55.0%) and rehabilitation (15.6%). The Public Health System funded most diagnoses (84.2%) and treatments (86.7%). Hospitalizations were reported in 44.5% of cases, and the mortality rate was 1.5%, primarily due to motor neuron disease and CF. Conclusion This study marks a pioneering national-level data collection effort for rare diseases in Brazil, offering novel insights to advance the understanding, management, and resource allocation for RDs. It unveils an average diagnostic odyssey of 5.4 years and a higher prevalence of PKU and CF, possibly associated with the specialized services network, which included newborn screening services.
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries
Patricia C. Mazzonetto, Darine Villela, Ana C. V. Krepischi, Paulo M. Pierry, Adriano Bonaldi, Luiz Gustavo D. Almeida, Marcelo G. Paula, Matheus Carvalho Bürger, Ana Gabriela de Oliveira, Gustavo G. G. Fonseca, Roberto Giugliani, Mariluce Riegel‐Giugliani, Débora Bertola, Guilherme Lopes Yamamoto, Maria Rita Passos‐Bueno, Gabriele da Silva Campos, Ana Claudia Dantas Machado, Juliana F. Mazzeu, Eduardo Perrone, Roseli M. Zechi‐Ceide, Nancy M. Kokitsu‐Nakata, Társis Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil‐da‐Silva‐Lopes, Daniela Koeller Rodrigues Vieira, Raquel Boy, João Monteiro de Pina‐Neto, Cristovam Scapulatempo‐Neto, Fernanda Milanezi, Carla Rosenberg
American Journal of Medical Genetics Part A, 2024
Low‐pass whole genome sequencing (LP‐WGS) has been applied as alternative method to detect copy number variants (CNVs) in the clinical setting. Compared with chromosomal microarray analysis (CMA), the sequencing‐based approach provides a similar resolution of CNV detection at a lower cost. In this study, we assessed the efficiency and reliability of LP‐WGS as a more affordable alternative to CMA. A total of 1363 patients with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies were enrolled. Those patients were referred from 15 nonprofit organizations and university centers located in different states in Brazil. The analysis of LP‐WGS at 1x coverage (>50kb) revealed a positive testing result in 22% of the cases (304/1363), in which 219 and 85 correspond to pathogenic/likely pathogenic (P/LP) CNVs and variants of uncertain significance (VUS), respectively. The 16% (219/1363) diagnostic yield observed in our cohort is comparable to the 15%–20% reported for CMA in the literature. The use of commercial software, as demonstrated in this study, simplifies the implementation of the test in clinical settings. Particularly for countries like Brazil, where the cost of CMA presents a substantial barrier to most of the population, LP‐WGS emerges as a cost‐effective alternative for investigating copy number changes in cytogenetics.
Multiple Aneuploidy: First Report of a Patient Presenting with a Karyotype 45,X/48,XXX,+21
Gabriela Roldão Correia Costa, Josep Jorente, Larissa Bretanha Pontes, Nilma Lúcia Viguetti Campos, Antonia Paula Marques-de-Faria, Társis Paiva Vieira, Carlos Eduardo Steiner
Cytogenetic and Genome Research, 2024
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing
Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, Rodrigo Ligabue-Braun, Fernanda Hendges de Bitencourt, Tássia Tonon, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Maria Efigênia de Queiroz Leite, Tatiana Amorim, Gilda Porta, João Seda Neto, Irene Kazumi Miura, Carlos Eduardo Steiner, Ana Maria Martins, André Luiz Santos Pessoa, Erlane Marques Ribeiro, Ida Vanessa Doederlein Schwartz
Molecular Genetics and Metabolism, 2024
Syndromic Retinitis Pigmentosa: A 15-Patient Study
Ianne Pessoa Holanda, Priscila Hae Hyun Rim, , Mara Sanches Guaragna, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner
Genes, 2024
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis
Ruy Pires de Oliveira-Sobrinho, Simone Appenzeller, Ianne Pessoa Holanda, Júlia Lôndero Heleno, Josep Jorente, , Társis Paiva Vieira, Carlos Eduardo Steiner
Genes, 2024
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome
Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori dos Santos, Társis Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes
Genes, 2024
Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion
Ruy Pires de Oliveira-Sobrinho, Luciana Mota Bispo, Julia Lôndero Heleno, Fernanda Rocha Rojas Ayala, Fabiano Reis, Társis Paiva Vieira, Carlos Eduardo Steiner
Molecular Syndromology, 2024
Re: “Molecular analysis of 9 unrelated families presenting with juvenile and chronic GM1 gangliosidosis”
Carlos Eduardo Steiner, Luciana Cardoso Bonadia
Journal of Inborn Errors of Metabolism and Screening, 2024
Disease progression in Sanfilippo type B: Case series of Brazilian patients
Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto e Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar
Genetics and Molecular Biology, 2024
Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing
Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Pinheiro, Ida Schwartz, Carlos Steiner
Genes, 2023
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome
Ricardo Di Lazzaro Filho, Guilherme Lopes Yamamoto, Tiago J Silva, Leticia A Rocha, Bianca D W Linnenkamp, Matheus Augusto Araújo Castro, Deborah Bartholdi, André Schaller, Tosso Leeb, Samantha Kelmann, Claudia Y Utagawa, Carlos E Steiner, Leandra Steinmetz, Rachel Sayuri Honjo, Chong Ae Kim, Lisa Wang, Raphaël Abourjaili-Bilodeau, Philippe M Campeau, Matthew Warman, Maria Rita Passos-Bueno, Nicolas C Hoch, Debora Romeo Bertola
Journal of Medical Genetics, 2023
Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software
José Thiago de Souza de Castro, Camilo Lotfi Saab, Mariam Patrícia Auada Souto, Juliane Giselle Ortolam, Carlos Eduardo Steiner, Thiago Junqueira Ribeiro de Rezende, Fabiano Reis
Arquivos De Neuro Psiquiatria, 2023
Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review
Gabriela Roldão Correia-Costa, Ana Mondadori dos Santos, Nicole de Leeuw, Sumara Zuanazi Pinto Rigatto, Vera Maria Santoro Belangero, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira
Genes, 2022
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
Têmis Maria Félix, Bibiana Mello de Oliveira, Milena Artifon, Isabelle Carvalho, Filipe Andrade Bernardi, Ida V. D. Schwartz, Jonas A. Saute, Victor E. F. Ferraz, Angelina X. Acosta, Ney Boa Sorte, Domingos Alves, Tatiana Amorim, Gisele Maria Araujo Felix Adjuto, Rosemarie Elizabeth Schimidt Almeida, Flávia Resedá Brandão, Larissa Souza Mario Bueno, Maria Denise Fernandes Carvalho de Andrade, Cristina Iacovelo Cagliari, Maria Terezinha Cardoso, Ellaine Doris Fernandes Carvalho, Marcela Câmara Machado Costa, Antonette El-Husny, Lavinia Schuler Faccini, Rodrigo Ambrosio Fock, Rodrigo Neves Florêncio, Marcial Francis Galera, Roberto Giugliani, Liane de Rosso Giuliani, Anette S. Grumach, Dafne G. Horovitz, Juan Clinton Llerena-Junior, Chong A. E. Kim, Rayana Elias Maia, Ana Maria Martins, Paula Frassinetti Vasconcelos de Medeiros, Nina Rosa de Castro Musolino, Marcelo Eidi Nita, Henrique Gil da Silva Nunesmaia, Jose Carlison Santos de Oliveira, Wagner José Martins Paiva, Helena Pimentel, Louise Lapagesse de Camargo Pinto, Vânia Mesquita Gadelha Prazeres, Betânia de Freitas Rodrigues Ribeiro, Erlane Ribeiro, Márcia Maria Jardim Rodrigues, Maria José Sparça Salles, Maria Teresa Vieira Sanseverino, Eliane Pereira dos Santos, Mara Lucia Schmitz Ferreira Santos, Flávia Mori Sarti, Luiz Carlos Santana da Silva, Raquel Tavares Boy da Silva, Carlos Eduardo Steiner, Ana Beatriz Winter Tavares, Thais Bonfim Teixeira, Alberto Vergara, Paulo Ricardo Gazzola Zen, Marcos Guimarães Zuchetti, and
Orphanet Journal of Rare Diseases, 2022
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network
Yorran Hardman Araújo Montenegro, Carolina Fischinger Moura Souza, Francyne Kubaski, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin‐Tirelli, Sandra Leistner‐Segal, Ana Carolina Brusius Facchin, Fernanda S. Medeiros, Luciana Giugliani, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso‐dos‐Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Maria Lucia Castro Moreira, Hector Quintero Montano, Guilherme Baldo, Roberto Giugliani
American Journal of Medical Genetics Part A, 2022
Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB
Yorran Hardman Araújo Montenegro, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar, Ruy Pires de Oliveira Sobrinho, Carlos Eduardo Steiner
Psychiatric Genetics, 2021
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype
Sylvia Stockler‐Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, Marioara Moisa Popurs, Nataliya Yuskiv, Mara Lúcia Schmitz Ferreira Santos, Chong Ae Kim, Carolina Fischinger Moura de Souza, Charles Marques Lourenço, Carlos Eduardo Steiner, Andressa Federhen, Luciana Giugliani, Débora Maria Bastos Pereira, Luz Elena Durán‐Carabali, Roberto Giugliani
Jimd Reports, 2021
Epidermolysis Bullosa Pruriginosa: An Unusual Presentation of a Simplex Variant
Lorena Visentainer, Laura Moya Kazmarek, Renata Ferreira Magalhães, Carlos Eduardo Steiner, Mirian Nacagami Sotto, Maria Letícia Cintra, Elemir Macedo de Souza
American Journal of Dermatopathology, 2020
Clinical and molecular investigation of familial multiple lipomatosis: Variants in the HMGA2 gene
Diana Marcela Mejía Granados, Marcella Bergamini de Baptista, Luciana Cardoso Bonadia, Carmen Silvia Bertuzzo, Carlos Eduardo Steiner
Clinical Cosmetic and Investigational Dermatology, 2020
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients
Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Malu Bettio Soares, Tatiele Nalin, Erlane Marques Ribeiro, Carlos Eduardo Steiner, Eugênia Ribeiro Valadares, Gilda Porta, Carolina Fishinger Moura de Souza, Ida Vanessa Doederlein Schwartz
Molecular Genetics and Genomic Medicine, 2019
Clinical findings in Brazilian patients with adult GM1 gangliosidosis
Luciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, Charles Marques Lourenço, Mara Lucia Schmitz Ferreira Santos, Carolina Fischinger Moura de Souza, Ana Carolina Brusius‐Facchin, Guilherme Baldo, Mariluce Riegel, Roberto Giugliani
Jimd Reports, 2019
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes
Mariana Moysés-Oliveira, Adriana Di-Battista, Malú Zamariolli, Vera Ayres Meloni, Silvia Bragagnolo, Denise Maria Christofolini, Carlos Eduardo Steiner, Nadezda Kosyakova, Thomas Liehr, Alexandre Reymond, Maria Isabel Melaragno
European Journal of Human Genetics, 2019
Diagnosis and Management of Classical Homocystinuria in Brazil: A Summary of 72 Late-Diagnosed Patients
Soraia Poloni, Giovana W. Hoss, Fernanda Sperb-Ludwig, Taciane Borsatto, Maria Juliana R. Doriqui, Emília K.E.A Leão, Ney Boa-Sorte, Charles M. Lourenço, Chong A. Kim, Carolina F. M. de Souza, Helio Rocha, Marcia Ribeiro, Carlos E. Steiner, Carolina A. Moreno, Pricila Bernardi, Eugenia Valadares, Osvaldo Artigalas, Gerson Carvalho, Hector Y. C. Wanderley, Vânia D’Almeida, Luiz C. Santana-da-Silva, Henk J. Blom, Ida V. D. Schwartz
Journal of Inborn Errors of Metabolism and Screening, 2018
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients
Soraia Poloni, Fernanda Sperb‐Ludwig, Taciane Borsatto, Giovana Weber Hoss, Maria Juliana R. Doriqui, Emília K. Embiruçu, Ney Boa‐Sorte, Charles Marques, Chong A. Kim, Carolina Fischinger Moura de Souza, Helio Rocha, Marcia Ribeiro, Carlos E. Steiner, Carolina A. Moreno, Pricila Bernardi, Eugenia Valadares, Osvaldo Artigalas, Gerson Carvalho, Hector Y. C. Wanderley, Johanna Kugele, Melanie Walter, Lorena Gallego‐Villar, Henk J. Blom, Ida Vanessa D. Schwartz
Molecular Genetics and Genomic Medicine, 2018
Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes
Milena Simioni, François Artiguenave, Vincent Meyer, Ilária C. Sgardioli, Nilma L. Viguetti-Campos, Isabella Lopes Monlleó, Andréa T. Maciel-Guerra, Carlos E. Steiner, Vera L. Gil-da-Silva-Lopes
Molecular Syndromology, 2017
Clinical profile and molecular characterization of Galactosemia in Brazil: Identification of seven novel mutations
Daniel F. Garcia, José S. Camelo, Greice A. Molfetta, Marlene Turcato, Carolina F. M. Souza, Gilda Porta, Carlos E. Steiner, Wilson A. Silva
BMC Medical Genetics, 2016
Molecular analysis of 9 unrelated families presenting with juvenile and chronic GM1 gangliosidosis
Marcella B. Baptista, Daniel Z. Scherrer, Luciana C. Bonadia, Carlos E. Steiner
Journal of Inborn Errors of Metabolism and Screening, 2016
Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of ito
Karina S. Cunha, Milena Simioni, Tarsis P. Vieira, Vera L. Gil-da-Silva-Lopes, Maria B. Puzzi, Carlos E. Steiner
Genetics and Molecular Biology, 2016
Medical Costs Related to Enzyme Replacement Therapy for Mucopolysaccharidosis Types I, II, and VI in Brazil: A Multicenter Study
Fernanda Hendges de Bitencourt, Taiane Alves Vieira, Carlos Eduardo Steiner, Jordão Correa Neto, Raquel Boy, Ida Vanessa Doederlein Schwartz
Value in Health Regional Issues, 2015
De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case
Milena Simioni, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes
Gene, 2015
Mowat-Wilson Syndrome
Carlos Eduardo Steiner
Arquivos De Neuro Psiquiatria, 2015
Consanguinity and geographic origin of patients with autosomal recessive metabolic disorders evaluated in a reference service in Campinas, Brazil
Cristiano Guimarães Kozuki, Carlos Eduardo Steiner
Journal of Inborn Errors of Metabolism and Screening, 2015
Clinical findings and natural history in ten unrelated families with juvenile and adult GM1 gangliosidosis
João Stein Kannebley, Laura Silveira-Moriyama, Laís Orrico Donnabella Bastos, Carlos Eduardo Steiner
Jimd Reports, 2015
Cognitive and behavioral heterogeneity in genetic syndromes
Luiz F.L. Pegoraro, Carlos E. Steiner, Eloisa H.R.V. Celeri, Claudio E.M. Banzato, Paulo Dalgalarrondo
Jornal De Pediatria, 2014
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion
Roberta Santos Guilherme, Karina Cunha Soares, Milena Simioni, Tarsis Paiva Vieira, Vera Lúcia Gil‐da‐Silva‐Lopes, Chong Ae Kim, Décio Brunoni, Nancy Bettina Spinner, Laura Kathleen Conlin, Denise Maria Christofolini, Leslie Domenici Kulikowski, Carlos Eduardo Steiner, Maria Isabel Melaragno
American Journal of Medical Genetics Part A, 2014
Enzyme replacement therapy for mucopolysaccharidosis type I among patients followed within the MPS Brazil network
Alícia Dorneles Dornelles, Louise Lapagesse de Camargo Pinto, Ana Carolina de Paula, Carlos Eduardo Steiner, Charles Marques Lourenço, Chong Ae Kim, Dafne Dain Gandelman Horovitz, Erlane Marques Ribeiro, Eugênia Ribeiro Valadares, Isabela Goulart, Isabel C. Neves de Souza, João Ivanildo da Costa Neri, Luiz Carlos Santana-da-Silva, Luiz Roberto Silva, Márcia Ribeiro, Ruy Pires de Oliveira Sobrinho, Roberto Giuglianiand, Ida Vanessa Doederlein Schwartz
Genetics and Molecular Biology, 2014
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib
Marcelo Paschoalete Carlin, Daniel Zanetti Scherrer, Adriana Maria Alves De Tommaso, Carmen Silvia Bertuzzo, Carlos Eduardo Steiner
Genetics and Molecular Biology, 2013
The Severity of Osteogenesis Imperfecta and Type I Collagen Pattern in Human Skin as Determined by Nonlinear Microscopy: Proof of Principle of a Diagnostic Method
Javier Adur, Lilia DSouza-Li, Marcus Vinícius Pedroni, Carlos E. Steiner, Vitor B. Pelegati, Andre A. de Thomaz, Hernandes F. Carvalho, Carlos L. Cesar
Plos One, 2013
Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2
D.Z. Scherrer, M.B. Baptista, A.H.B. Matos, C.V. Maurer-Morelli, C.E. Steiner
European Journal of Medical Genetics, 2013
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Benjamin D Solomon, Kelly A Bear, Adrian Wyllie, Amelia A Keaton, Christele Dubourg, Veronique David, Sandra Mercier, Sylvie Odent, Ute Hehr, Aimee Paulussen, Nancy J Clegg, Mauricio R Delgado, Sherri J Bale, Felicitas Lacbawan, Holly H Ardinger, Arthur S Aylsworth, Ntombenhle Louisa Bhengu, Stephen Braddock, Karen Brookhyser, Barbara Burton, Harald Gaspar, Art Grix, Dafne Horovitz, Erin Kanetzke, Hulya Kayserili, Dorit Lev, Sarah M Nikkel, Mary Norton, Richard Roberts, Howard Saal, G B Schaefer, Adele Schneider, Erika K Smith, Ellen Sowry, M Anne Spence, Stavit A Shalev, Carlos E Steiner, Elizabeth M Thompson, Thomas L Winder, Joan Z Balog, Donald W Hadley, Nan Zhou, Daniel E Pineda-Alvarez, Erich Roessler, Maximilian Muenke
Journal of Medical Genetics, 2012
Ethical issues related to the access to orphan drugs in Brazil: The case of mucopolysaccharidosis type I
Raquel Boy, Ida V D Schwartz, Bárbara C Krug, Luiz C Santana-da-Silva, Carlos E Steiner, Angelina X Acosta, Erlane M Ribeiro, Marcial F Galera, Paulo G C Leivas, Marlene Braz
Journal of Medical Ethics, 2011
Anthropometric and body-mass composition suggests an intrinsic feature in Williams-Beuren syndrome
Roberto José Negrão Nogueira, Leonardo Ferreira Zimmerman, Yara Maria Franco Moreno, Cláudia Regina Comparini, Danilo Vilela Viana, Tarsis Antonio Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil-da-Silva-Lopes
Revista Da Associacao Medica Brasileira, 2011
Mucopolysaccharidosis type II: Skeletal-muscle system involvement
Sandra Regina Morini, Carlos Eduardo Steiner, Lelia Britto Passos Gerson
Journal of Pediatric Orthopaedics Part B, 2010
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy
Osvaldo Artigalás, Valeska Lizzi Lagranha, Maria Luiza Saraiva‐Pereira, Maira Graeff Burin, Charles Marques Lourenço, Hélio van der Linden, Mara Lúcia Ferreira Santos, Sergio Rosemberg, Carlos Eduardo Steiner, Fernando Kok, Carolina F. Moura de Souza, Laura B. Jardim, Roberto Giugliani, Ida Vanessa Schwartz
Journal of Inherited Metabolic Disease, 2010
Achados oftalmológicos em gêmeos idênticos brasileiros com síndrome de Cohen: Relato de caso
Priscila Hae Hyun Rim, Eugênio Santana de Figueirêdo, Fabio Endo Hirata, Carlos Eduardo Steiner, Antonia Paula Marques-de-Faria
Arquivos Brasileiros De Oftalmologia, 2009
Type II autosomal recessive cutis laxa: Report of another patient and molecular studies concerning three candidate genes
Daniel Zanetti Scherrer, Fabiana Alexandrino, Maria Letícia Cintra, Edi Lúcia Sartorato, Carlos Eduardo Steiner
American Journal of Medical Genetics Part A, 2008
Additional EFNB1 mutations in craniofrontonasal syndrome
Deeann Wallis, Felicitas Lacbawan, Mahim Jain, Vazken M. Der Kaloustian, Carlos E. Steiner, John B. Moeschler, H. Wolfgang Losken, Ilkka I. Kaitila, Stephen Cantrell, Virginia K. Proud, John C. Carey, Donald W. Day, Dorit Lev, Ahmad S. Teebi, Luther K. Robinson, H. Eugene Hoyme, Nadia Al‐Torki, Jacqueline Siegel‐Bartelt, John B. Mulliken, Nathaniel H. Robin, Dolores Saavedra, Elaine H. Zackai, Maximilian Muenke
American Journal of Medical Genetics Part A, 2008
Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?
Taiane Vieira, Ida Schwartz, Verónica Muñoz, Louise Pinto, Carlos Steiner, Márcia Ribeiro, Raquel Boy, Victor Ferraz, Ana de Paula, Chong Kim, Angelina Acosta, Roberto Giugliani
American Journal of Medical Genetics Part A, 2008
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome
Benjamin Abo-Dalo, Melanie Roes, Sonia Canún, Martin Delatycki, Gabriele Gillessen-Kaesbach, Ihor Hrytsiuk, Christine Jung, Bronwyn Kerr, David Mowat, Eva Seemanova, Carlos E. Steiner, Helen Stewart, Patrick Thierry, Griet van Buggenhout, Sue White, Martin Zenker, Kerstin Kutsche
Clinical Dysmorphology, 2008
Gray and white matter imbalance - Typical structural abnormality underlying classic autism?
Leonardo Bonilha, Fernando Cendes, Chris Rorden, Mark Eckert, Paulo Dalgalarrondo, Li Min Li, Carlos E. Steiner
Brain and Development, 2008
Molecular genetics study of deafness in Brazil: 8-Year experience
Camila Andréa de Oliveira, Fabiana Alexandrino, Thalita Vitachi Christiani, Carlos Eduardo Steiner, José Luiz Rosemberis Cunha, Andréa Trevas Maciel Guerra, Edi Lúcia Sartorato
American Journal of Medical Genetics Part A, 2007
What syndrome is this?
Ruy Pires De Oliveira Sobrinho, Carlos Eduardo Steiner
Pediatric Dermatology, 2007
Genotype and natural history in unrelated individuals with phenylketonuria and autistic behavior
Carlos Eduardo Steiner, Angelina Xavier Acosta, Marilisa Mantovani Guerreiro, Antonia Paula Marques-de-Faria
Arquivos De Neuro Psiquiatria, 2007
Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G → C splice-site mutation in the ALDH3A2 gene
M.P. Auada, M.B. Puzzi, M.L. Cintra, C.E. Steiner, F. Alexandrino, E.L. Sartorato, T.S. Aguiar, R.D. Azulay, G. Carney, W.B. Rizzo
British Journal of Dermatology, 2006
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome [2]
Fabiana Alexandrino, Edi Lúcia Sartorato, Antonia Paula Marques-de-Faria, Carlos Eduardo Steiner
American Journal of Medical Genetics, 2005
Molecular findings in Brazilian patients with osteogenesis imperfecta
Journal of Applied Genetics, 2005
Cutis laxa with growth and developmental delay, wrinkly skin syndrome and gerodermia osteodysplastica: A report of two unrelated patients and a literature review
Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria
Genetics and Molecular Biology, 2005
Laboratorial diagnosis of fragile-X syndrome: Experience in a sample of individuals with pervasive developmental disorders
Carlos Eduardo Steiner, Marilisa Mantovani Guerreiro, Antonia Paula Marques-de-Faria, Iscia Lopes-Cendes
Arquivos De Neuro Psiquiatria, 2005
Brief report: Acrocallosal syndrome and autism
Carlos Eduardo steiner, Marilisa Mantovani guerreiro, Antonia Paula marques-de-faria
Journal of Autism and Developmental Disorders, 2004
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
Deborah Krakow, Stephen P Robertson, Lily M King, Timothy Morgan, Eiman T Sebald, Cristina Bertolotto, Sebastian Wachsmann-Hogiu, Dora Acuna, Sandor S Shapiro, Toshiro Takafuta, Salim Aftimos, Chong Ae Kim, Helen Firth, Carlos E Steiner, Valerie Cormier-Daire, Andrea Superti-Furga, Luisa Bonafe, John M Graham, Arthur Grix, Carlos A Bacino, Judith Allanson, Martin G Bialer, Ralph S Lachman, David L Rimoin, Daniel H Cohn
Nature Genetics, 2004
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14
C Steiner, N Ehtesham, K D Taylor, E Sebald, R Cantor, L M King, X Guo, T Hang, M S Hu, J-R Cui, B Friedman, D Norato, J Allanson, C Honeywell, G Mettler, F Field, R Lachman, D H Cohn, D Krakow
Journal of Medical Genetics, 2004
On macrocephaly, epilepsy, autism, specific facial features, and mental retardation [2]
Carlos Eduardo Steiner, Marilisa Mantovani Guerreiro, Antonia Paula Marques‐de‐Faria
American Journal of Medical Genetics, 2003
Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders
Carlos Eduardo Steiner, Marilisa Mantovani Guerreiro, Antonia Paula Marques-de-Faria
Arquivos De Neuro Psiquiatria, 2003
Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome
Gisele Viana de Oliveira, Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques-de-Faria
Genetics and Molecular Biology, 2003
Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome)
Carlos Eduardo Steiner, Maria Letícia Cintra, Antonia Paula Marques‐de‐Faria
American Journal of Medical Genetics, 2002
Mesial temporal lobe abnormalities in a family with 15q26qter trisomy
Eliane Kobayashi, Daniela Facchin, Carlos E. Steiner, Andrea A. A. Leone, Nilma L. V. Campos, Fernando Cendes, Iscia Lopes-Cendes
Archives of Neurology, 2002
Spondylocarpotarsal synostosis with ocular findings
Carlos Eduardo Steiner, Martin Torriani, Denise Yvonne Janovitz Norato, Antonia Paula Marques-de-Faria
American Journal of Medical Genetics, 2000
Growth deficiency, mental retardation and unusual facies
C. E. Steiner, A. P. Marques
Clinical Dysmorphology, 2000
Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients.
Iscia Lopes-Cendesi, Hélio G.A. Teive, Maria E Calcagnotto, Jaderson C. da Costa, Francisco Cardoso, Erika Viana, Jaime A. Maciel, João Radvany, Walter O. Arruda, Paulo C. Trevisol-Bittencourt, Pedro Rosa Neto, Isabel Silveira, Carlos E. Steiner, Walter Pinto-Júnior, André S. Santos, Ylmar Correa Neto, Lineu C. Werneck, Abelardo Q.C. Araújo, Gerson Carakushansky, Luiz R. Mello, Laura B. Jardim, Guy A. Rouleau
Arquivos De Neuro Psiquiatria, 1997
Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1
Iscia Lopes-Cendes, Carlos E. Steiner, Isabel Silveira, Walter Pinto-Junior, Jayme A. Maciel, Guy A. Rouleau
Arquivos De Neuro Psiquiatria, 1996
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patients
I. Silveira, I. Lopes-Cendes, S. Kish, P. Maciel, C. Gaspar, P. Coutinho, M. I. Botez, H. Teive, W. Arruda, C. E. Steiner, W. Pinto-Junior, J. A. Maciel, S. Jain, G. Sack, E. Andermann, L. Sudarsky, R. Rosenberg, P. MacLeod, D. Chitayat, R. Babul, J. Sequeiros, G. A. Rouleau
Neurology, 1996

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