Siulan Vendramini-Pittoli

Summary

Country: Brazil

Publications

  1. ncbi request reprint Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature
    Siulan Vendramini
    Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Brazil
    Eur J Hum Genet 15:411-21. 2007
  2. doi request reprint Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature
    Siulan Vendramini-Pittoli
    Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Sao Paulo, Brazil
    Clin Dysmorphol 18:67-77. 2009
  3. 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
  4. ncbi request reprint Auriculo-condylar syndrome: additional patients
    Maria Leine Guion-Almeida
    Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Sao Paulo, Brazil
    Am J Med Genet 112:209-14. 2002
  5. ncbi request reprint A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
    Maria Leine Guion-Almeida
    Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, University of Sao Paulo USP, SP, Bauru, Brazil
    Clin Dysmorphol 15:171-4. 2006
  6. pmc Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability
    Bruno F Gamba
    Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies HRCA, University of Sao Paulo, Bauru, Brazil
    Mol Syndromol 7:344-348. 2016
  7. pmc Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome
    Nancy Mizue Kokitsu-Nakata
    Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo HRCA USP, Bauru, Sao Paulo, Brazil
    Am J Med Genet A 158:2003-8. 2012
  8. doi request reprint Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?
    Maria Leine Guion-Almeida
    Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies HRAC, University of Sao Paulo, Bauru, SP, Brazil
    Am J Med Genet A 149:2762-4. 2009
  9. doi request reprint An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases
    Siulan Vendramini-Pittoli
    aDepartment of Clinical Genetics bProgram of Postgraduate in Science of Rehabilitation cDepartment of Craniofacial Surgery, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo dMedical Diagnosis Imaging, Portuguese Charity Hospital, Bauru, Sao Paulo, Brazil
    Clin Dysmorphol 24:144-50. 2015
  10. 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

Collaborators

  • Antonio Richieri-Costa
  • Maria Leine Guion-Almeida
  • Maria Rita Passos-Bueno
  • Tiong Y Tan
  • Evan J Propst
  • Christopher T Gordon
  • Nancy Mizue Kokitsu-Nakata
  • Bruno F Gamba
  • Roseli M Zechi-Ceide
  • Vanessa L Romanelli Tavares
  • Siulan Vendramini
  • Elaine Sbroggio de Oliveira Rodini
  • Nancy M Kokitsu-Nakata
  • Ana C V Krepischi Santos
  • Lucilene Ribeiro-Bicudo
  • Carla Rosenberg
  • Andrew A Heggie
  • Blake C Papsin
  • Norine Voisin
  • Henk Buermans
  • Johan T den Dunnen
  • Tatiana T Torres
  • Jeanne Amiel
  • Stanislas Lyonnet
  • Luciane Portas Capelo
  • Vanessa Luiza Romanelli Tavares
  • Jeffrey Clark Murray
  • Jason Paul Heard
  • Roseli Maria Zechi-Ceide
  • Daniela Vera Cruz Dos Santos
  • Laura E Henkle
  • Aline Lourenço Petrin
  • Ligiane Alves Machado-Paula

Detail Information

Publications12

  1. ncbi request reprint Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature
    Siulan Vendramini
    Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Brazil
    Eur J Hum Genet 15:411-21. 2007
    ..We postulate that radial defects associated with OAVS might represent a subset within this spectrum...
  2. doi request reprint Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature
    Siulan Vendramini-Pittoli
    Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Sao Paulo, Brazil
    Clin Dysmorphol 18:67-77. 2009
    ..We suggest that oculoauriculovertebral spectrum with autosomal dominant inheritance is characterized mainly by bilateral auricular involvement and rarely presents extracranial anomalies...
  3. 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...
  4. ncbi request reprint Auriculo-condylar syndrome: additional patients
    Maria Leine Guion-Almeida
    Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, Sao Paulo, Brazil
    Am J Med Genet 112:209-14. 2002
    ..Variation in the severity of the abnormalities was observed. We discuss the findings in our patients in relation to those in the literature...
  5. ncbi request reprint A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
    Maria Leine Guion-Almeida
    Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, University of Sao Paulo USP, SP, Bauru, Brazil
    Clin Dysmorphol 15:171-4. 2006
    ..We believe that this combination of signs represents a new mandibulofacial dysostosis syndrome whose etiology is unknown...
  6. pmc Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability
    Bruno F Gamba
    Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies HRCA, University of Sao Paulo, Bauru, Brazil
    Mol Syndromol 7:344-348. 2016
    ..Our patient presents with a spectrum of unusual malformations of 1q21.1 deletion syndrome not reported up to date...
  7. pmc Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome
    Nancy Mizue Kokitsu-Nakata
    Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo HRCA USP, Bauru, Sao Paulo, Brazil
    Am J Med Genet A 158:2003-8. 2012
    ..To our knowledge this is the first report of a Brazilian family with recurrence of this syndrome...
  8. doi request reprint Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?
    Maria Leine Guion-Almeida
    Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies HRAC, University of Sao Paulo, Bauru, SP, Brazil
    Am J Med Genet A 149:2762-4. 2009
    ..To date only three males and one female, all sporadic cases, with a similar condition have been reported. This article describes the first familial case with this rare condition indicating autosomal dominant or X-linked inheritance...
  9. doi request reprint An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases
    Siulan Vendramini-Pittoli
    aDepartment of Clinical Genetics bProgram of Postgraduate in Science of Rehabilitation cDepartment of Craniofacial Surgery, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo dMedical Diagnosis Imaging, Portuguese Charity Hospital, Bauru, Sao Paulo, Brazil
    Clin Dysmorphol 24:144-50. 2015
    ..Here, we report on two unrelated cases with a typical phenotype of OAVS and a Tessier 30 associated cleft. One of them also had other atypical facial clefts. We discuss the association between atypical facial clefts and OAVS. ..
  10. 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. ..
  11. pmc Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients
    Maria Leine Guion-Almeida
    Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de Sao Paulo, Bauru, SP, Brazil
    Clin Ophthalmol 1:183-7. 2007
    ..Clinical manifestations presented by these patients represent a MCA/MR syndrome of unknown etiology. Considerations about syndromic delineation, genetic aspects, and differential diagnosis are discussed...
  12. ncbi request reprint Atypical facial clefting in a patient with Goltz syndrome
    Elaine Sbroggio de Oliveira Rodini
    Am J Med Genet A 140:1616. 2006