Maria Rita Passos-Bueno

Summary

Country: Brazil

Publications

  1. pmc Genetics and management of the patient with orofacial cleft
    Luciano Abreu Brito
    Human Genome Research Center, Institute of Biosciences, University of Sao Paulo, 05508 090 São Paulo, SP, Brazil
    Plast Surg Int 2012:782821. 2012
  2. pmc Optimization of parameters for a more efficient use of adipose-derived stem cells in regenerative medicine therapies
    Meire Aguena
    Institute of Biosciences, University of Sao Paulo, 05508 090 São Paulo, Brazil
    Stem Cells Int 2012:303610. 2012
  3. pmc A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems
    Luciano V Araújo
    EACH School of Arts, Sciences and Humanities, University of Sao Paulo, Rua Arlindo Béttio, 1000, Ermelino Matarazzo, Sao Paulo, Brazil
    BMC Genomics 12:S13. 2011
  4. ncbi request reprint Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study
    Maria Rita Passos-Bueno
    Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Brazil
    Cleft Palate Craniofac J 41:387-91. 2004
  5. doi request reprint Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations
    Maria Rita Passos-Bueno
    Human Genome Center, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    Front Oral Biol 12:107-43. 2008
  6. doi request reprint Syndromes of the first and second pharyngeal arches: A review
    Maria Rita Passos-Bueno
    Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Brazil
    Am J Med Genet A 149:1853-9. 2009
  7. ncbi request reprint Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2
    Maria Rita Passos-Bueno
    Centro de Estudo do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet 113:200-6. 2002
  8. ncbi request reprint Mutations in collagen 18A1 and their relevance to the human phenotype
    Maria Rita Passos-Bueno
    Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociencias, USP, 05508 900 Sao Paulo, SP, Brazil
    An Acad Bras Cienc 78:123-31. 2006
  9. ncbi request reprint A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction
    Cibele Masotti
    Instituto de Biociencias, Universidade de Sao Paulo, Departamento de Biologia, Rua do Matao, 277 Sala 200, 05508 900 São Paulo SP, Brazil
    Gene 359:44-52. 2005
  10. doi request reprint Mesenchymal stem cells derived from canine umbilical cord vein--a novel source for cell therapy studies
    Eder Zucconi
    Human Genome Research Center, Department of Genetic and Evolutive Biology, University of Sao Paulo, Sao Paulo, Brazil
    Stem Cells Dev 19:395-402. 2010

Collaborators

Detail Information

Publications67

  1. pmc Genetics and management of the patient with orofacial cleft
    Luciano Abreu Brito
    Human Genome Research Center, Institute of Biosciences, University of Sao Paulo, 05508 090 São Paulo, SP, Brazil
    Plast Surg Int 2012:782821. 2012
    ....
  2. pmc Optimization of parameters for a more efficient use of adipose-derived stem cells in regenerative medicine therapies
    Meire Aguena
    Institute of Biosciences, University of Sao Paulo, 05508 090 São Paulo, Brazil
    Stem Cells Int 2012:303610. 2012
    ..Finally, pump-assisted aspiration can be used without any significant harm to the viability of cells...
  3. pmc A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems
    Luciano V Araújo
    EACH School of Arts, Sciences and Humanities, University of Sao Paulo, Rua Arlindo Béttio, 1000, Ermelino Matarazzo, Sao Paulo, Brazil
    BMC Genomics 12:S13. 2011
    ..Additionally, the routines of genomics laboratory are typically characterized by high parallelism in testing and constant procedure changes...
  4. ncbi request reprint Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study
    Maria Rita Passos-Bueno
    Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Brazil
    Cleft Palate Craniofac J 41:387-91. 2004
    ..To contribute to a better understanding of the role of this gene in the occurrence of CL/P we undertook a case-control study including patients and controls ascertained in different regions of the country...
  5. doi request reprint Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations
    Maria Rita Passos-Bueno
    Human Genome Center, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    Front Oral Biol 12:107-43. 2008
    ....
  6. doi request reprint Syndromes of the first and second pharyngeal arches: A review
    Maria Rita Passos-Bueno
    Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Brazil
    Am J Med Genet A 149:1853-9. 2009
    ....
  7. ncbi request reprint Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2
    Maria Rita Passos-Bueno
    Centro de Estudo do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet 113:200-6. 2002
    ..Therefore, clinical and laboratory analyses in our patients suggest that their phenotype represents a new syndrome very likely caused by mutation in a gene different from those studied...
  8. ncbi request reprint Mutations in collagen 18A1 and their relevance to the human phenotype
    Maria Rita Passos-Bueno
    Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociencias, USP, 05508 900 Sao Paulo, SP, Brazil
    An Acad Bras Cienc 78:123-31. 2006
    ..This review besides illustrating the functional importance of collagen XVIII in eye development and its structure maintenance throughout life, it also shows its role in other tissues and organs, such as nervous system and kidney...
  9. ncbi request reprint A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction
    Cibele Masotti
    Instituto de Biociencias, Universidade de Sao Paulo, Departamento de Biologia, Rua do Matao, 277 Sala 200, 05508 900 São Paulo SP, Brazil
    Gene 359:44-52. 2005
    ..This promoter variant represents a candidate allele to explain the clinical variability in patients bearing TCS...
  10. doi request reprint Mesenchymal stem cells derived from canine umbilical cord vein--a novel source for cell therapy studies
    Eder Zucconi
    Human Genome Research Center, Department of Genetic and Evolutive Biology, University of Sao Paulo, Sao Paulo, Brazil
    Stem Cells Dev 19:395-402. 2010
    ..Furthermore, our results open possibilities to use cUCV cells in preclinical trials for many well-characterized canine model conditions homologs to human diseases...
  11. pmc FGFR2 mutation confers a less drastic gain of function in mesenchymal stem cells than in fibroblasts
    Erika Yeh
    Human Genome Center, Department of Genetics and Evolutive Biology, Institute of Bioscience, University of Sao Paulo, Rua do Matao, 277, Sao Paulo, SP CEP 05508 900, Brazil
    Stem Cell Rev 8:685-95. 2012
    ..We propose that cells from the periosteum have a more important role in the premature fusion of cranial sutures than previously thought and that molecules in JNK pathway are strong candidates for the treatment of AS patients...
  12. pmc Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells
    Roberto D Fanganiello
    Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Brazil
    Mol Med 13:422-42. 2007
    ....
  13. pmc Human stem cell cultures from cleft lip/palate patients show enrichment of transcripts involved in extracellular matrix modeling by comparison to controls
    Daniela Franco Bueno
    Human Genome Research Center, Biosciences Institute of University of Sao Paulo USP, Sao Paulo, Sao Paulo, Brazil
    Stem Cell Rev 7:446-57. 2011
    ..This comparative approach should lead to a more rapid identification of gene networks predisposing to this complex malformation syndrome than conventional gene mapping technologies...
  14. pmc Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients
    Cibele Masotti
    Centro de Estudos do Genoma Humano, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
    BMC Med Genet 10:136. 2009
    ..Haploinsufficiency of the gene product (treacle) during embryonic development is the proposed molecular mechanism underlying TCS. However, it is still unknown if TCOF1 expression levels are decreased in post-embryonic human cells...
  15. doi request reprint IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population
    Luciano A Brito
    Human Genome Research Center, Department of Genetics, Institute de Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 158:2170-5. 2012
    ..We did not find any correlation between expression levels and genotypes of the two loci, and it is possible that these SNPs have a functional role in some specific period of embryogenesis...
  16. ncbi request reprint Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate
    Dinamar A Gaspar
    Human Genome Center, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    Eur J Hum Genet 12:521-6. 2004
    ..Therefore, our results reinforce the idea that the maternal MTHFR genotype plays a significant role in susceptibility to CL/P, but its teratogenic effect depends on the genotype of the offspring...
  17. doi request reprint Reconstruction of large cranial defects in nonimmunosuppressed experimental design with human dental pulp stem cells
    André de Mendonça Costa
    Departamento de Cirurgia Plástica e Queimaduras, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil
    J Craniofac Surg 19:204-10. 2008
    ..Our findings suggest that hDPSC is an additional cell resource for correcting large cranial defects in rats and constitutes a promising model for reconstruction of human large cranial defects in craniofacial surgery...
  18. ncbi request reprint COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its "frizzled" motif is associated with obesity in diabetes type 2 patients
    Flavia I V Errera
    Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
    An Acad Bras Cienc 80:167-77. 2008
    ..048), and increases the chance of obesity in 2.8 times. Therefore, our data suggest the involvement of collagen XVIII in human adipogenesis and susceptibility to obesity...
  19. doi request reprint Stem cells as a good tool to investigate dysregulated biological systems in autism spectrum disorders
    Karina Griesi-Oliveira
    Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brasil
    Autism Res 6:354-61. 2013
    ..In summary, our results suggest that ASD share deregulated pathways and revealed that SHEDs represent an alternative cell source to be used in the understanding of the biological mechanisms involved in the etiology of ASD...
  20. ncbi request reprint Alveolar osseous defect in rat for cell therapy: preliminary report
    Cassio Eduardo Raposo-Amaral
    Institute of Craniofacial and Plastic Surgery, Campinas, SP, Brazil
    Acta Cir Bras 25:313-7. 2010
    ..Additionally, we also aimed to determine the osteogenesis process of this osseous defect in the 1 month period post-surgery...
  21. pmc Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate
    Gerson Shigeru Kobayashi
    Human Genome Research Center, Institute for Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    PLoS ONE 8:e65677. 2013
    ..These results are in accordance with the hypothesis of aetiological overlap between this malformation and cancer, and suggest a new pathogenic mechanism for the disease...
  22. pmc Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome
    Erika Yeh
    Human Genome Center, Department of Genetics and Evolutive Biology, Institute of Bioscience, University of Sao Paulo, Sao Paulo, SP, Brazil
    PLoS ONE 8:e60439. 2013
    ..Our approach thus led to the identification of new target genes directly or indirectly associated with FGFR2 which are contributing to the pathophysiology of AS...
  23. ncbi request reprint An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome
    Fernanda Sarquis Jehee
    Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 139:221-6. 2005
    ..We also discuss the involvement of other potential genes within the duplicated segment and its relationship with clinical symptoms of our patient, as well as the laboratory abnormalities found in his mother, a carrier of the duplication...
  24. doi request reprint Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate
    Luciano Abreu Brito
    Centro de Pesquisa sobre o Genoma Humano e Células Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brasil
    Hum Mutat 36:1029-33. 2015
    ..002). We concluded that CDH1 contributes to NSCL/P with mainly rare, moderately penetrant variants, and CDH1 haploinsufficiency is the likely etiological mechanism. ..
  25. doi request reprint Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil
    Luciano Abreu Brito
    Human Genome Research Center, Institute of Biosciences, University of Sao Paulo, Brazil
    Birth Defects Res A Clin Mol Teratol 94:464-8. 2012
    ..We performed a structured association approach combined with transcriptional analysis of the MYC gene to dissect the role of rs987525 in oral clefting susceptibility in the ethnically admixed Brazilian population...
  26. ncbi request reprint Functional vascular endothelial growth factor -634G>C SNP is associated with proliferative diabetic retinopathy: a case-control study in a Brazilian population of European ancestry
    Flavia I V Errera
    Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Rua do Matão 277, CEP 05508 900 São Paulo, Brazil
    Diabetes Care 30:275-9. 2007
    ....
  27. doi request reprint Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation
    Debora R Bertola
    Instituto da Criança HC FMUSP, Sao Paulo, Brazil
    Am J Med Genet A 161:600-4. 2013
    ..We speculate that a different mechanism, a dominant-negative effect, is responsible for the distinct phenotype in this family...
  28. doi request reprint Auriculo-condylar syndrome. Confronting a diagnostic challenge
    Nancy Mizue Kokitsu-Nakata
    Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo HRCA USP, Bauru, SP, Brazil
    Am J Med Genet A 158:59-65. 2012
    ..1-q23.3) was excluded in our familial case, reinforcing the hypothesis of genetic heterogeneity for this condition. A review of the literature focusing diagnostic criteria and features of ACS was performed...
  29. doi request reprint Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7
    Roseli Maria Zechi-Ceide
    Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo HRCA USP, Bauru, SP, Brazil
    Am J Med Genet A 158:1680-5. 2012
    ..31. Our case reinforces FERD3L as candidate gene for intellectual disability and suggested that genes located in 3p21.3 can be related to hyper IgE phenotype...
  30. ncbi request reprint Histological and radiological changes in cranial bone in the presence of bone wax
    Cassio Eduardo Raposo-Amaral
    Institute of Craniofacial and Plastic Surgery, Campinas, SP, Brazil
    Acta Cir Bras 26:274-8. 2011
    ..To quantify the amount of bone formation in the calvarial region of Wistar rats after craniotomy using bone wax as a haemostatic agent...
  31. doi request reprint Increased In Vitro Osteopotential in SHED Associated with Higher IGF2 Expression When Compared with hASCs
    Roberto Dalto Fanganiello
    Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Rua do Matao, 277, Sala 200, Sao Paulo, SP, Brazil, 05508 090
    Stem Cell Rev 11:635-44. 2015
    ..This study unravels osteogenic properties in SHED, implying IGF2 as a potential biomarker of MSCs with higher osteopotential, and unveils IGF2 loss-of-imprinting in SHED...
  32. doi request reprint Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies
    Luciano A Brito
    Human Genome Research Center, Institute of Biosciences, University of Sao Paulo, Brazil
    Am J Med Genet A 155:1581-7. 2011
    ..The data presented here will be useful in interpreting results from molecular analyses and show that care must be taken when pooling samples from different populations for association studies...
  33. ncbi request reprint A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21
    Alessandra Starling
    Human Genome Research Center, Department of Biology, University of Sao Paulo, Sao Paulo, Brazil
    Eur J Hum Genet 12:1033-40. 2004
    ..62 for marker D4S2964. Flanking markers place this locus between D4S2947 and D4S2409, within an interval of 9 cM. We propose to classify this AD form of LGMD as LGMD1G...
  34. doi request reprint Fat grafts supplemented with adipose-derived stromal cells in the rehabilitation of patients with craniofacial microsomia
    Daniela Y S Tanikawa
    Division of Plastic and Reconstructive Surgery, University of Sao Paulo School of Medicine, Sao Paulo, Brazil
    Plast Reconstr Surg 132:141-52. 2013
    ....
  35. doi request reprint Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features
    Ellaine Carvalho
    Genetics Unit, Instituto da Criança, Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 167:1039-46. 2015
    ....
  36. ncbi request reprint Effects of uterine cervix constriction on Wistar rats
    Cassio Eduardo Raposo-Amaral
    Institute of Craniofacial and Plastic Surgery, SOBRAPAR, Campinas, SP, Brazil
    Acta Cir Bras 25:469-74. 2010
    ..To verify if uterine cerclage can induce craniosynostosis or any cranial deformity in new born Wistar rats...
  37. ncbi request reprint Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion
    Nélio A J Oliveira
    Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Birth Defects Res A Clin Mol Teratol 76:629-33. 2006
    ..Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly...
  38. pmc Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy
    Danielle P Moreira
    Centro de Pesquisas sobre o Genoma Humano e Células Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brasil
    PLoS ONE 9:e107705. 2014
    ..Also, it suggests that the likelihood of a greater number of positive MLPA results might be found for the 15q13.3 and 22q13 regions by prioritizing ASD-affected individuals with epilepsy. ..
  39. doi request reprint Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities
    Débora Bertola
    Unidade de Genetica, Instituto da Criança, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet A 152:2599-603. 2010
    ..The clinical impact of this latter finding still remains to be elucidated. Further studies are necessary to address more precisely the role of cathepsin K in suture patency...
  40. ncbi request reprint An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses
    Fernanda S Jehee
    Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
    Am J Med Genet A 143:1912-8. 2007
    ..An overlapping region of less than 1.2 Mb was identified and included the duplication of genes FGF3 and FGF4 in both individuals. We discuss the possible implications of dosage effects of these genes in the onset of craniosynostosis...
  41. doi request reprint Functionally conserved cis-regulatory elements of COL18A1 identified through zebrafish transgenesis
    Erika Kague
    Centro de Estudo do Genoma Humano, Department Genetica e Biologia Evolutiva, Instituto de Biociencias Universidade de São Paulo, Brazil
    Dev Biol 337:496-505. 2010
    ..More generally, we show that combining functional data with targeted analyses for phylogenetic conservation can reveal conserved cis-regulatory elements in the large number of cases where computational alignment alone falls short...
  42. pmc Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism
    Camila Oliveira Freitas Machado
    Hospital Israelita Albert Einstein, Instituto de Ensino e Pesquisa, Sao Paulo, Brazil
    Eur J Hum Genet 24:59-65. 2016
    ..These findings suggest that disinhibited mTORC1 signaling may also contribute to the pathological process in patients with loss-of-function variants in CB. ..
  43. ncbi request reprint Characterization of human collagen XVIII promoter 2: interaction of Sp1, Sp3 and YY1 with the regulatory region and a SNP that increases transcription in hepatocytes
    Lucia M Armelin-Correa
    Department of Genetics and Evolution Biology, Bioscience Institute, University of Sao Paulo, Brazil
    Matrix Biol 24:550-9. 2005
    ..In addition, we also confirm the involvement of Sp1 in the regulation of this gene...
  44. doi request reprint New source of muscle-derived stem cells with potential for alveolar bone reconstruction in cleft lip and/or palate patients
    Daniela Franco Bueno
    Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil
    Tissue Eng Part A 15:427-35. 2009
    ..Our findings suggest that these cells represent a promising source of stem cells for alveolar bone grafting treatment, particularly in young CLP patients...
  45. pmc Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome
    Oscar Suzuki
    Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Mol Vis 15:801-9. 2009
    ..In addition, we tested whether mutations in this gene lead to absence of the COL18A1 gene product and attempted to better characterize the functional effect of a previously reported missense mutation...
  46. ncbi request reprint Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients
    Fernanda Sarquis Jehee
    Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Rua do Matão 277, Sala 200 CEP 05508 900 São Paulo, SP, Brazil
    Cleft Palate Craniofac J 43:148-51. 2006
    ..Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes...
  47. doi request reprint Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family
    Dionisia A C Lamonica
    University of Sao Paulo, College of Dentistry, Speech Pathology and Audiology Department, Bauru, SP, Brazil
    Cleft Palate Craniofac J 47:548-52. 2010
    ..To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome...
  48. doi request reprint Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries
    Fernanda Sarquis Jehee
    Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
    Eur J Med Genet 54:e425-32. 2011
    ..We also describe imbalances that were considered polymorphisms or rare variants, such as the new SNP that confounded the analysis of the 22q13.3 deletion syndrome...
  49. doi request reprint Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects
    Marilyse B L Fernandes
    Hospital de Reabilitação de Anomalias Craniofaciais, USP, Bauru, SP, Brazil
    Am J Med Genet A 170:1532-7. 2016
    ..5 ± 6.7). These reveal that molecular aspects are another factor that can be considered in studies of global and cognitive development of patients with Apert and Crouzon syndrome (CS). © 2016 Wiley Periodicals, Inc. ..
  50. pmc Neuromuscular disorders: genes, genetic counseling and therapeutic trials
    Mayana Zatz
    Human Genome and Research Center HUG CELL, Instituto de Biociencias, Universidade de Sao Paulo USP, Sao Paulo, SP, Brazil
    Genet Mol Biol 39:339-48. 2016
    ..Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country. ..
  51. doi request reprint Further evidence of the importance of RIT1 in Noonan syndrome
    Debora R Bertola
    Unidade de Genética do Instituto da Criança, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo SP, Brazil Instituto de Biociências, Universidade de Sao Paulo, Sao Paulo SP, Brazil
    Am J Med Genet A 164:2952-7. 2014
    ....
  52. doi request reprint Effects of antipsychotics with different weight gain liabilities on human in vitro models of adipose tissue differentiation and metabolism
    Andrea L Sertie
    Centro de Pesquisa Experimental, Instituto Israelita de Ensino e Pesquisa Albert Einstein, Sao Paulo, Brazil
    Prog Neuropsychopharmacol Biol Psychiatry 35:1884-90. 2011
    ..On the other hand, the haloperidol-mediated downregulation of the lipogenic capacity of human adipose tissue may be a possible mechanism contributing to its lower propensity to induce serious metabolic side effects...
  53. doi request reprint A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder
    Karina Griesi-Oliveira
    Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Med Genet B Neuropsychiatr Genet 159:529-36. 2012
    ..In light of recent findings on ASD genetic causes, the hypothesis that all these alterations might be acting in orchestration and contributing to the phenotype is also considered...
  54. ncbi request reprint Telethonin protein expression in neuromuscular disorders
    Mariz Vainzof
    Center for the Study of the Human Genome, Department Biology, IBUSP, University of Sao Paulo, R do Matão, 277, sala 220 Cidade Universitária, Sao Paulo, Brazil
    Biochim Biophys Acta 1588:33-40. 2002
    ..Therefore, the primary deficiency of calpain-3, dysferlin, sarcoglycans, and dystrophin do not seem to alter telethonin expression...
  55. ncbi request reprint Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation
    Roseli Maria Zechi-Ceide
    Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, USP, Sao Paulo, SP, Brazil
    Clin Dysmorphol 16:163-6. 2007
    ..960G>C) in the propositus and in his mother; and a single nucleotide polymorphism (c.175-5C>G) in the propositus and in his father. Clinical and genetic aspects of this case are discussed...
  56. doi request reprint Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
    Guilherme Lopes Yamamoto
    Unidade de Genetica, Instituto da Criança, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil Centro de Pesquisa sobre o Genoma Humano e Células Tronco, Instituto de Biociências da Universidade de São Paulo, Sao Paulo, Sao Paulo, Brazil
    J Med Genet 52:413-21. 2015
    ..The identification of novel genes associated with Noonan syndrome has become increasingly challenging, since they might be responsible for very small fractions of the cases...
  57. doi request reprint MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the Brazilian population
    Sibele Nascimento de Aquino
    Department of Oral Diagnosis, School of Dentistry, State University of Campinas, Piracicaba, Sao Paulo, Brazil
    Birth Defects Res A Clin Mol Teratol 100:30-5. 2014
    ..The aim of this study was to evaluate the association of rs2274976 and rs2236225 in the pathogenesis of NSCL/P...
  58. pmc Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
    Vanessa L Romanelli Tavares
    Centro de Pesquisas do Genoma Humano e Células Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Eur J Hum Genet 23:481-5. 2015
    ..Structural modeling shows that all five altered GNAI3 residues identified to date cluster in a region involved in GDP/GTP binding. We hypothesize that all GNAI3 variants lead to dominant negative effects. ..
  59. doi request reprint Stem cell proliferation under low intensity laser irradiation: a preliminary study
    Fernanda de P Eduardo
    Hospital Israelita Albert Einstein, Unit of Bone Marrow Transplantation, São Paulo 05651 901, SP, Brazil
    Lasers Surg Med 40:433-8. 2008
    ..The aim of this in vitro study was to evaluate the potential effect of laser phototherapy (660 nm) on human dental pulp stem cell (hDPSC) proliferation...
  60. ncbi request reprint Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity
    Cibele Masotti
    Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil
    Eur J Hum Genet 16:145-52. 2008
    ..Therefore, our results led to the mapping of a first locus of ACS (ACS1) and also showed evidence for genetic heterogeneity, suggesting that there are at least two loci responsible for this phenotype...
  61. ncbi request reprint Parental origin of mutations in sporadic cases of Treacher Collins syndrome
    Alessandra Splendore
    Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Rua do Matão 277, CEP 05508 900, Cidade Universitaria, Sao Paulo, SP, Brazil
    Eur J Hum Genet 11:718-22. 2003
    ..A discussion on the parental origin of mutations and paternal age effect in other diseases is included...
  62. pmc Collybistin and gephyrin are novel components of the eukaryotic translation initiation factor 3 complex
    Andrea L Sertie
    Department of Genetics and Evolutive Biology, Institute of Bioscience, University of Sao Paulo, Brazil
    BMC Res Notes 3:242. 2010
    ..However, little is known about additional CB partners and functions...
  63. ncbi request reprint How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?
    Oscar T Suzuki
    Hum Mutat 25:314-5; author reply 316. 2005
  64. ncbi request reprint CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene
    Boris Keren
    Clinical Genetic Unit, Department of Medical Genetics, APHP, Robert Debre University Hospital, 48 Boulevard Serurier, 75019 Paris, France
    Am J Med Genet A 143:1514-8. 2007
  65. pmc RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
    Dagan Jenkins
    Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Am J Hum Genet 80:1162-70. 2007
    ....
  66. ncbi request reprint Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction
    Todd S Zorick
    Am J Med Genet A 127:321-3. 2004
  67. ncbi request reprint TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders
    Alessandra Splendore
    Am J Med Genet 111:324-7. 2002