Denise Pontes Cavalcanti

Scopus Publications

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, et al.
Pediatric Research, 2026
Building a growing genomic repository for maternal and fetal health through the PING Consortium
Clara M. Abdelmalek, Shriya Singh, Blain Fasil, Allison R. Horvath, Sarah B. Mulkey, et al.
Pediatric Research, 2025
Background Prenatally transmitted viruses can cause severe damage to the developing brain. There is unexplained variability in prenatal brain injury and postnatal neurodevelopmental outcomes, suggesting disease modifiers. Of note, prenatal Zika infection can cause a spectrum of neurodevelopmental disorders, including congenital Zika syndrome. Currently, there is no preventative treatment or cure. The Prenatal Infection and Neurodevelopmental Genetics (PING) Consortium aims to identify modulators of brain injury and adverse neurodevelopmental outcomes for Zika and other prenatal viral infections. Methods The Consortium pools information from eight multi-site studies conducted at 23 research centers in six countries to build a growing clinical and genomic repository, which is being mined for modifiers of virally induced brain injury. Partners include Children’s National Hospital (USA), Instituto Nacional de Salud (Colombia), the Natural History of Zika Virus Infection in Gestation program (Brazil), Zika Instituto Fernandes Figueira (Brazil), the Centers for Disease Control and Prevention, and the National Institutes of Health. Results We have enrolled 4102 mothers and 3877 infants with 3063 biological samples and clinical data covering over 80 phenotypic fields and 5000 variables. Thus far, we have performed whole exome sequencing on 1226 participants. Conclusion Here, we present the Consortium’s formation and overarching study design. Impact The PING Consortium brings together investigators and institutions to determine the causes of virally induced brain injury and neurological deficits. The clinical and genomic repository, with data from over 8000 patients, will serve as a foundation for a variety of basic and clinical studies.
Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients
Maria Eduarda Gomes, Fernanda Kehdy, Fernanda Saloum de Neves-Manta, Dafne Dain Gandelman Horovitz, Maria Teresa Sanseverino, et al.
Scientific Reports, 2024
Cartilage-hair hypoplasia syndrome (CHH) is an autosomal recessive disorder frequently linked to n.72A>G (previously known as n.70A>G and n.71A>G), the most common RMRP variant worldwide. More than 130 pathogenic variants in this gene have already been described associated with CHH, and founder alterations were reported in the Finnish and Japanese populations. Our previous study in Brazilian CHH patients showed a high prevalence of n.197C>T variant (former n.195C>T and n.196C>T) when compared to other populations. The aim of this study was to investigate a possible founder effect of the n.197C>T variant in the RMRP gene in a series of CHH Brazilian patients. We have selected four TAG SNPs within chromosome 9 and genotyped the probands and their parents (23 patients previously described and nine novel). A common haplotype to the n.197C>T variant carriers was identified. Patients were also characterized for 46 autosomal Ancestry Informative Markers (AIMs). European ancestry was the most prevalent (58%), followed by African (24%) and Native American (18%). Our results strengthen the hypothesis of a founder effect for the n.197C>T variant in Brazil and indicate that this variant in the RMRP gene originated from a single event on chromosome 9 with a possible European origin.
Czech dysplasia mimicking rheumatoid arthritis: Case series and literature review
Larissa Aniceto Moreira, Daniel Rocha Carvalho, Savana Camilla Lima Santos, Cynthia Costa E Silva, Bruno Silva Araujo Ferreira, et al.
Modern Rheumatology, 2024
Objective This study reported a family with most members affected by Czech dysplasia. We examined the patients’ clinical, laboratory, and imaging characteristics and evaluated their functional capacity using the Stanford Health Assessment Questionnaire-Disability Index. Methods The method used was case series description and literature review. Results This study showed that the pathogenic variant c.823C&gt;T in the COL2A1 gene, which is a characteristic of Czech dysplasia, was found in 12 Brazilian individuals. Half of the patients in this family met the criteria for rheumatoid arthritis (RA) based on the 2010 American College of Rheumatology/European League Against Rheumatism classification criteria. Patients had arthritis in their hand joints, synovitis detected by ultrasound, and alterations in inflammatory tests. The Stanford Health Assessment Questionnaire-Disability Index assessment revealed that all patients exhibited moderate-to-severe functional disability. What distinguish Czech dysplasia from RA are an autosomal dominant inheritance pattern, platyspondyly, sensorineural hearing loss, and shortening of the metatarsal bones. Conclusions It is important to consider Czech dysplasia as a potential differential diagnosis for RA. This autosomal dominant skeletal dysplasia is associated with normal height, short metatarsals, platyspondyly, hearing loss, enlarged epiphyses, and precocious osteoarthritis. Inflammatory findings such as arthritis, synovitis, and alteration of inflammatory markers may also be present in individuals with Czech dysplasia.
A mesomelic skeletal dysplasia, Kantaputra-like, not related to HOXD cluster region, and with phenotypic gender differences
Maria Dora Jazmin Lacarrubba‐Flores, Karina da Costa Silveira, Cynthia Silveira, Benilton S. Carvalho, Denise Pontes Cavalcanti
American Journal of Medical Genetics Part A, 2024
Mesomelic skeletal dysplasia is a heterogeneous group of skeletal disorders that has grown since the molecular basis of these conditions is in the process of research and discovery. Here, we report a Brazilian family with eight affected members over three generations with a phenotype similar to mesomelic Kantaputra dysplasia. This family presents marked shortening of the upper limbs with hypotrophy of the lower limbs and clubfeet without synostosis. Array‐based CNV analysis and exome sequencing of four family members failed to show any region or gene candidate. Interestingly, males were more severely affected than females in this family, suggesting that gender differences could play a role in the phenotypic expressivity of this condition.
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
Karina C. Silveira, Inara Chacon Fonseca, Connor Oborn, Parker Wengryn, Saima Ghafoor, et al.
Human Genetics, 2023
CYP26B1 metabolizes retinoic acid in the developing embryo to regulate its levels. A limited number of individuals with pathogenic variants in CYP26B1 have been documented with a varied phenotypic spectrum, spanning from a severe manifestation involving skull anomalies, craniosynostosis, encephalocele, radio-humeral fusion, oligodactyly, and a narrow thorax, to a milder presentation characterized by craniosynostosis, restricted radio-humeral joint mobility, hearing loss, and intellectual disability. Here, we report two families with CYP26B1-related phenotypes and describe the data obtained from functional studies of the variants. Exome and Sanger sequencing were used for variant identification in family 1 and family 2, respectively. Family 1 reflects a mild phenotype, which includes craniofacial dysmorphism with brachycephaly (without craniosynostosis), arachnodactyly, reduced radioulnar joint movement, conductive hearing loss, learning disability—and compound heterozygous CYP26B1 variants: (p.[(Pro118Leu)];[(Arg234Gln)]) were found. In family 2, a stillborn fetus presented a lethal phenotype with spina bifida occulta, hydrocephalus, poor skeletal mineralization, synostosis, limb defects, and a synonymous homozygous variant in CYP26B1: c.1083C > A. A minigene assay revealed that the synonymous variant created a new splice site, removing part of exon 5 (p.Val361_Asp382del). Enzymatic activity was assessed using a luciferase assay, demonstrating a notable reduction in exogenous retinoic acid metabolism for the variant p.Val361_Asp382del. (~ 3.5 × decrease compared to wild-type); comparatively, the variants p.(Pro118Leu) and p.(Arg234Gln) demonstrated a partial loss of metabolism (1.7× and 2.3× reduction, respectively). A proximity-dependent biotin identification assay reaffirmed previously reported ER-resident protein interactions. Additional work into these interactions is critical to determine if CYP26B1 is involved with other biological events on the ER. Immunofluorescence assay suggests that mutant CYP26B1 is still localized in the endoplasmic reticulum. These results indicate that novel pathogenic variants in CYP26B1 result in varying levels of enzymatic activity that impact retinoic acid metabolism and relate to the distinct phenotypes observed.
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek-Kiper, Sarah M Nikkel, et al.
Journal of Bone and Mineral Research, 2023
Lethal short-limb skeletal dysplasia Al-Gazali type (OMIM %601356), also called dysplastic cortical hyperostosis, Al-Gazali type, is an ultra-rare disorder previously reported in only three unrelated individuals. The genetic etiology for Al-Gazali skeletal dysplasia has up until now been unknown. Through international collaborative efforts involving seven clinical centers worldwide, a cohort of nine patients with clinical and radiographic features consistent with short-limb skeletal dysplasia Al-Gazali type was collected. The affected individuals presented with moderate intrauterine growth restriction, relative macrocephaly, hypertrichosis, large anterior fontanelle, short neck, short and stiff limbs with small hands and feet, severe brachydactyly, and generalized bone sclerosis with mild platyspondyly. Biallelic disease-causing variants in ADAMTSL2 were detected using massively parallel sequencing (MPS) and Sanger sequencing techniques. Six individuals were compound heterozygous and one individual was homozygous for pathogenic variants in ADAMTSL2. In one of the families, pathogenic variants were detected in parental samples only. Overall, this study sheds light on the genetic cause of Al-Gazali skeletal dysplasia and identifies it as a semi-lethal part of the spectrum of ADAMTSL2-related disorders. Furthermore, we highlight the importance of meticulous analysis of the pseudogene region of ADAMTSL2 where disease-causing variants might be located. © 2023 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation
Cynthia Silveira, Karina da Costa Silveira, Maria D. Lacarrubba-Flores, Maurício T. Sakata, Silvia N. Carbognani, et al.
Molecular Syndromology, 2023
Introduction: Pathogenic variants in the SLC26A2/DTDST gene cause the following spectrum of phenotypes: achondrogenesis 1B (ACG1B), atelosteogenesis 2 (AO2), diastrophic dysplasia (DTD), and recessive-multiple epiphyseal dysplasia (rMED), the first 2 being lethal. Here, we report a cohort and a comprehensive literature review on a genotype-phenotype correlation of SLC26A2/DTDST-related disorders. Methods: The local patients were genotyped by Sanger sequencing or next-generation sequencing (NGS). We reviewed data from the literature regarding phenotype, zygosity, and genotype in parallel. Results: The local cohort enrolled 12 patients, including one with a Desbuquois-like phenotype. All but one showed biallelic mutations, however, only one allele mutated in a fetus presenting ACG1B was identified. The literature review identified 42 articles and the analyses of genotype and zygosity included the 12 local patients. Discussion: The R279W variant was the most prevalent among the local patients. It was in homozygosity (hmz) in 2 patients with rMED and in compound heterozygosity (chtz) in 9 patients. The genotype and zygosity review of all patients led to the following conclusions: DTD is the most common phenotype in Finland due to a Finnish mutation (c.727–1G>C). Outside of Finland, rMED is the most prevalent phenotype, usually associated with R279W in hmz. In contrast, DTD’s genotype is usually in chtz. Despite a large number of variants (38), just 8 are recurrent (R279W, C653S, c.−26+2T>C, R178*, K575Sfs*10, V340del, G663R, T512K). The last 3 in hmz lead to lethal phenotypes. The Finnish mutation is found only in chtz outside of Finland, being associated with all 4 classical phenotypes. The p.R178* and p.K575Sfs*10 variants should be viewed as lethal mutations since both were mainly described with lethal phenotypes and were never reported in hmz. The existence of 9 patients with only one mutated allele suggests that other mutations in the other allele of these patients still need to be unveiled.
Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients
Juan Llerena, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg, et al.
BMC Pediatrics, 2022
Background Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression. Additionally, patients affected with this condition have higher frequency of sleep disorders, ear infections, hearing loss and slowed development milestones. Considering these clinical features, we aimed to summarize the regional experts’ recommendations for the multidisciplinary management of patients with achondroplasia in Latin America, a vast geographic territory with multicultural characteristics and with socio-economical differences of developing countries. Methods Latin American experts (from Argentina, Brazil, Chile and Colombia) particiáted of an Advisory Board meeting (October 2019), and had a structured discussion how patients with achondroplasia are followed in their healthcare centers and punctuated gaps and opportunities for regional improvement in the management of achondroplasia. Results Practical recommendations have been established for genetic counselling, prenatal diagnosis and planning of delivery in patients with achondroplasia. An outline of strategies was added as follow-up guidelines to specialists according to patient developmental phases, amongst them neurologic, orthopedic, otorhinolaryngologic, nutritional and anthropometric aspects, and related to development milestones. Additionally, the role of physical therapy, physical activity, phonoaudiology and other care related to the quality of life of patients and their families were discussed. Preoperative recommendations to patients with achondroplasia were also included. Conclusions This study summarized the main expert recommendations for the health care professionals management of achondroplasia in Latin America, reinforcing that achondroplasia-associated comorbidities are not limited to orthopedic concerns.
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Giorgia Di Lorenzo, Lena M. Westermann, Timur A. Yorgan, Julian Stürznickel, Nataniel F. Ludwig, et al.
Genetics in Medicine, 2021
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias
Karina C. Silveira, Thatiane Y. Kanazawa, Cynthia Silveira, Maria D. J. Lacarrubba‐Flores, Benilton S. Carvalho, et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2021
New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly
Viviane Freitas de Castro, Daniel Mattos, Flavia Martinez de Carvalho, Denise Pontes Cavalcanti, Milagros M. Duenas-Roque, et al.
Molecular Syndromology, 2021
Identification of genomic imbalances in oral clefts
Elaine Lustosa-Mendes, Ana P. dos Santos, Társis P. Vieira, Erlane M. Ribeiro, Adriana A. Rezende, et al.
Jornal De Pediatria, 2021
A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients
Nataniel F Ludwig, Fernanda Sperb-Ludwig, Dévora N Randon, Pricila Bernardi, Liane R Giuliani, et al.
Journal of Inborn Errors of Metabolism and Screening, 2021
Introduction to the special issue on Clinical Genetics in Latin America
Carlos E. Prada, Denise Cavalcanti, Ida Vanessa Doederlein Schwartz, Yuri A. Zarate
American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2020
Skeletal dysplasias in Latin America
Denise P. Cavalcanti, Virginia Fano, Cecilia Mellado, Maria Dora J. Lacarrubba‐Flores, Cynthia Silveira, et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2020
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A
Cristina T. N. Medina, Renata Sandoval, Gabriela Oliveira, Karina da Costa Silveira, Denise P. Cavalcanti, et al.
American Journal of Medical Genetics Part A, 2020
Inflammation markers in the saliva of infants born from Zika-infected mothers: exploring potential mechanisms of microcephaly during fetal development
Diogo N. de Oliveira, Estela O. Lima, Carlos F. O. R. Melo, Jeany Delafiori, Tatiane M. Guerreiro, et al.
Scientific Reports, 2019
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
Shahida Moosa, Guilherme L. Yamamoto, Lutz Garbes, Katharina Keupp, Ana Beleza-Meireles, et al.
American Journal of Human Genetics, 2019
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
Hae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, Eunkyung Lee, Jieun Seo, et al.
American Journal of Human Genetics, 2019
Femoral-facial syndrome: A review of the literature and 14 additional patients including a monozygotic discordant twin pair
Maria Dora Jazmin Lacarrubba‐Flores, Daniel Rocha Carvalho, Erlane Marques Ribeiro, Carolina Araujo Moreno, Ana Carolina Esposito, et al.
American Journal of Medical Genetics Part A, 2018
In reply to “Short-rib syndrome Beemer-Langer type, a short history”
Denise P. Cavalcanti
American Journal of Medical Genetics Part A, 2018
Eduardo E. Castilla (1933-2017): El grande TROESMA
Denise Pontes Cavalcanti
American Journal of Medical Genetics Part A, 2018
Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome
Carolina Araujo Moreno, Nara Sobreira, Elizabeth Pugh, Peng Zhang, Gary Steel, et al.
European Journal of Human Genetics, 2018
Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia
Maria E.S. Gomes, Thatiane Y. Kanazawa, Fernanda R. Riba, Natálya G. Pereira, Maria C.C. Zuma, et al.
Molecular Syndromology, 2018
CranFlow: An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies
Roberta M. Volpe‐Aquino, Isabella L. Monlleó, Elaine Lustosa‐Mendes, Amanda F. Mora, Agnes C. Fett‐Conte, et al.
Birth Defects Research, 2018
Rare genetic diseases: update on diagnosis, treatment and online resources
Robert E. Pogue, Denise P. Cavalcanti, Shreya Shanker, Rosangela V. Andrade, Lana R. Aguiar, et al.
Drug Discovery Today, 2018
Beemer–Langer syndrome is a ciliopathy due to biallelic mutations in IFT122
Karina C. Silveira, Carolina A. Moreno, Denise P. Cavalcanti
American Journal of Medical Genetics Part A, 2017
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII
Francyne Kubaski, Ana Carolina Brusius-Facchin, Robert W. Mason, Pravin Patel, Maira G. Burin, et al.
Prenatal Diagnosis, 2017
The phenotypic spectrum of congenital Zika syndrome
Miguel del Campo, Ian M. L. Feitosa, Erlane M. Ribeiro, Dafne D. G. Horovitz, André L. S. Pessoa, et al.
American Journal of Medical Genetics Part A, 2017
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings
Cynthia Silveira, Gabriela F. Leal, Denise P. Cavalcanti
American Journal of Medical Genetics Part A, 2016
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes
Carolina Araujo Moreno, Konradin Metze, Elizete Aparecida Lomazi, Débora Romeo Bertola, Ricardo Henrique Almeida Barbosa, et al.
American Journal of Medical Genetics Part A, 2016
Possible association between Zika virus infection and microcephaly — Brazil, 2015
Lavinia Schuler-Faccini, Erlane M. Ribeiro, Ian M.L. Feitosa, Dafne D.G. Horovitz, Denise P. Cavalcanti, et al.
Morbidity and Mortality Weekly Report, 2016
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region
Thaís Fenz Araujo, Erlane Marques Ribeiro, Anderson Pontes Arruda, Carolina Araujo Moreno, Paula Frassinetti Vasconcelos de Medeiros, et al.
European Journal of Medical Research, 2016
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene-the clinical and radiological follow-up
Karina C. Silveira, Luciana C. Bonadia, Andrea Superti‐Furga, Débora R. Bertola, Alexander A.L. Jorge, et al.
American Journal of Medical Genetics Part A, 2015
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations
Eduardo P. Mattos, Maria Teresa V. Sanseverino, José Antônio A. Magalhães, Júlio César L. Leite, Temis Maria Félix, et al.
Genetics and Molecular Biology, 2015
Frequency of the allelic variant c.1150T > C in exon 10 of the fibroblast growth factor receptor 3 (FGFR3) gene is not increased in patients with pathogenic mutations and related chondrodysplasia phenotypes
Thatiane Yoshie Kanazawa, Luciana Cardoso Bonadia, Denise Pontes Cavalcanti
Genetics and Molecular Biology, 2014
Molecular analysis of holoprosencephaly in South America
Clarice Pagani Savastano, Kênia Balbi El-Jaick, Marcelo Aguiar Costa-Lima, Cristina Maria Batista Abath, Sebastiano Bianca, et al.
Genetics and Molecular Biology, 2014
Downregulation of 14q32 micrornas in primary human desmoplastic medulloblastoma
Danielle Ribeiro Lucon, Cristiane de Souza Rocha, Rogerio Bastos Craveiro, Dagmar Dilloo, Izilda A. Cardinalli, et al.
Frontiers in Oncology, 2013
Non-immune hydrops fetalis: A prospective study of 53 cases
Carolina A. Moreno, Thatiane Kanazawa, Ricardo Barini, Marcelo L. Nomura, Kléber C. Andrade, et al.
American Journal of Medical Genetics Part A, 2013
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders
Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake, Ryo Kogawa, Aritoshi Iida, et al.
American Journal of Human Genetics, 2013
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
Céline Huber, Eissa Ali Faqeih, Deborah Bartholdi, Christine Bole-Feysot, Zvi Borochowitz, et al.
American Journal of Human Genetics, 2013
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia
Marleen Simon, Ana Belinda Campos‐Xavier, Lauréane Mittaz‐Crettol, Eugenia Ribeiro Valadares, Daniel Carvalho, et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics, 2012
Clinical epidemiology of skeletal dysplasias in South America
Cecília O. Barbosa‐Buck, Iêda M. Orioli, Maria da Graça Dutra, Jorge Lopez‐Camelo, Eduardo E. Castilla, et al.
American Journal of Medical Genetics Part A, 2012
NEK1 and DYNC2H1 are both involved in short rib polydactyly majewski type but not in Beemer Langer cases
Joyce El Hokayem, Céline Huber, Adeline Couvé, Jacqueline Aziza, Geneviève Baujat, et al.
Journal of Medical Genetics, 2012
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
Denise P Cavalcanti, Celine Huber, Kim-Hanh Le Quan Sang, Geneviève Baujat, Felicity Collins, et al.
Journal of Medical Genetics, 2011
Identification of CANT1 Mutations in Desbuquois Dysplasia
Céline Huber, Bénédicte Oulès, Marta Bertoli, Mounia Chami, Mélanie Fradin, et al.
American Journal of Human Genetics, 2009
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome
F Brancati, L Bernardini, DP Cavalcanti, C Romano, A Novelli, et al.
Clinical Genetics, 2009
DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
Nathalie Dagoneau, Marie Goulet, David Geneviève, Yves Sznajer, Jelena Martinovic, et al.
American Journal of Human Genetics, 2009
High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation
F S Jehee, A C V Krepischi-Santos, K M Rocha, D P Cavalcanti, C A Kim, et al.
Journal of Medical Genetics, 2008
Early exposure to yellow fever vaccine during pregnancy
Denise P. Cavalcanti, Maria Antonieta Salomão, Jorge Lopez‐Camelo, Mônica A. Pessoto, The Campinas Group of Yellow Fever Immunization during Pregnancy
Tropical Medicine and International Health, 2007
Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype-phenotype correlation
Laura Bernardini, Anna Capalbo, Maria Gabriella D'Avanzo, Isabella Torrente, Paola Grammatico, et al.
European Journal of Medical Genetics, 2007
Fraser and ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1
Denise Pontes Cavalcanti, Verena Matejas, Daniela Luquetti, Marcos Fernando Mello, Martin Zenker
American Journal of Medical Genetics Part A, 2007
Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects
Danielle R. Lucon, Luciene M. Zanchetta, Denise P. Cavalcanti
Genetics and Molecular Biology, 2006
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients
Fernanda Sarquis Jehee, Luis G. Alonso, Denise P. Cavalcanti, Chong Kim, Steven A. Wall, et al.
Cleft Palate Craniofacial Journal, 2006
The effects of yellow fever immunization (17DD) inadvertently used in early pregnancy during a mass campaign in Brazil
C SUZANO, E AMARAL, H SATO, P PAPAIORDANOU
Vaccine, 2006
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly
FS Jehee, D Johnson, LG Alonso, DP Cavalcanti, E De Sá Moreira, et al.
Clinical Genetics, 2005
Molecular findings in Brazilian patients with osteogenesis imperfecta
Journal of Applied Genetics, 2005
Interphase-FISH study in three patients with tetraploid/diploid mosaicism
Denise P. Cavalcanti, Luciene M. Zanchetta
European Journal of Medical Genetics, 2005
Scalp lesions in Turner syndrome: A result of lymphoedema?
Mariam Patrícia Auada, Maria Letícia Cintra, Maria Beatriz Puzzi, Danilo Viana, Denise Pontes Cavalcanti
Clinical Dysmorphology, 2004
Importance of the clinical genetics evaluation on hydrocephalus
Marta Wey-Vieira, Denise Pontes Cavalcanti, Vera Lúcia Gil Silva Lopes
Arquivos De Neuro Psiquiatria, 2004
Incidence of congenital hydrocephalus and the role of the prenatal diagnosis
Denise P. Cavalcanti, Maria A. Salomão
Jornal De Pediatria, 2003
Prenatal exposure to misoprostol and vascular disruption defects: A case-control study
F.R. Vargas, L. Schuler-Faccini, D. Brunoni, C. Kim, V.F.A. Meloni, et al.
American Journal of Medical Genetics, 2000
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
Alessandra Splendore, Elias O. Silva, Lu�s G. Alonso, Ant�nio Richieri-Costa, Nivaldo Alonso, et al.
Human Mutation, 2000
Dandy-walker malformation with postaxial polydactyly: Further evidence for autosomal recessive inheritance
D.P. Cavalcanti, M.A. Salom�o
American Journal of Medical Genetics, 1999
Thalidomide, a current teratogen in South America
Teratology, 1996
Limb reduction defects in South America
Eduardo E. Castilla, Denise P. Cavalcanti, Maria G. Dutra, Jorge S. Lopez‐Camelo, Joaquin E. Paz, et al.
BJOG an International Journal of Obstetrics Gynaecology, 1995
Two cases of Y;autosome translocations: A 45,X male and a clinically trisomy 18 patient
Solange B. Farah, Clarisa F. Ramos, Maricilda P. de Mello, Edi L. Sartorato, Nina Horelli‐Kuitunen, et al.
American Journal of Medical Genetics, 1994
Limb anomalies following chorionic villus sampling: A registry based case- control study
Pierpaolo Mastroiacovo, Lorenzo Davide Botto, Denise Pontes Cavalcanti, Faustina Lalatta, Angelo Selicorni, et al.
American Journal of Medical Genetics, 1992
Limb-reduction defects and chorion villus sampling
Pierpaolo Mastroiacovo, Denise Pontes Cavalcanti, Giovanni Monni, Rosa Maria Ibba, Rosalba Lai, et al.
Lancet, 1991
Use of Y-chromosome-specific DNA probes to evaluate an XX male.
Brazilian Journal of Medical and Biological Research Revista Brasileira De Pesquisas Medicas E Biologicas Sociedade Brasileira De Biofisica Et Al, 1991
Unknown syndrome: Abnormal fades, hypothyroidism, postaxial Polydactyly, and severe retardation: A third patient
D P Cavalcanti
Journal of Medical Genetics, 1989
Chromosome analysis of 52 spontaneous abortuses in Brazil
Revista Brasileira De Genetica, 1988
Tetrasomy 9p caused by idic (9) (pter→q13→pter)
Denise Pontes Cavalcanti, Iris Ferrari, José Carlos Cabral de Almeida, João Monteiro de Pina Neto, José A. de Oliveira, et al.
American Journal of Medical Genetics, 1987

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