Siulan Vendramini-Pittoli

Siulan Vendramini-Pittoli

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Siulan Vendramini-Pittoli

Siulan Vendramini-Pittoli

Publications by authors named "Siulan Vendramini-Pittoli"

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17Publications

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Mandibulofacial dysostosis Bauru type: Refining the phenotype.

Am J Med Genet A 2017 Jul 30;173(7):1747-1753. Epub 2017 May 30.

Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA/USP), Bauru, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.38257DOI Listing
July 2017

Multisystem Involvement in a Patient with a Mutation: Clinical and Imaging Findings.

J Pediatr Genet 2017 Jun 14;6(2):103-106. Epub 2016 Sep 14.

Departamento de Genética, Instituto de Ciências Biológicas, Universidade Federal de Goias, Goiania, Goiás, Brazil.

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http://dx.doi.org/10.1055/s-0036-1588028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423795PMC
June 2017

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Am J Med Genet A 2017 Apr;173(4):938-945

Centro de Pesquisas Sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.38101DOI Listing
April 2017

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.

Mol Syndromol 2016 Nov 26;7(6):344-348. Epub 2016 Oct 26.

Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.

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http://dx.doi.org/10.1159/000450971DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131332PMC
November 2016

An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases.

Clin Dysmorphol 2015 Oct;24(4):144-50

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, São Paulo, Brazil.

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http://dx.doi.org/10.1097/MCD.0000000000000085DOI Listing
October 2015

Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases.

J Pediatr Genet 2013 Dec;2(4):173-80

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, SP, Brazil.

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http://dx.doi.org/10.3233/PGE-13066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020977PMC
December 2013

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.

Am J Med Genet A 2012 Aug 27;158A(8):2003-8. Epub 2012 Jun 27.

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.35454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724514PMC
August 2012

Auriculo-condylar syndrome. Confronting a diagnostic challenge.

Am J Med Genet A 2012 Jan 21;158A(1):59-65. Epub 2011 Nov 21.

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.34337DOI Listing
January 2012

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?

Am J Med Genet A 2009 Dec;149A(12):2762-4

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.32816DOI Listing
December 2009

Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature.

Clin Dysmorphol 2009 Apr;18(2):67-77

Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Sao Paulo, Brazil.

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https://insights.ovid.com/crossref?an=00019605-200904000-000
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http://dx.doi.org/10.1097/MCD.0b013e328323a7ddDOI Listing
April 2009

Cerebro-oculo-nasal syndrome: report of a case with a severe phenotype.

Am J Med Genet A 2009 Mar;149A(3):519-20

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Sao Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.32588DOI Listing
March 2009

Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients.

Clin Ophthalmol 2007 Jun;1(2):183-7

Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2704508PMC
June 2007