List of works by Siulan Vendramini-Pittoli

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

scientific article published in October 2015

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

scientific article published on 27 June 2012

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

scientific article published on June 2007

Auriculo-condylar syndrome. Confronting a diagnostic challenge

scientific article published on 21 November 2011

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

scientific article

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

scientific article published on 26 October 2016

Mandibulofacial dysostosis Bauru type: Refining the phenotype.

scientific article

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?

scientific article published on 01 December 2009

Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

scientific article

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

scientific article

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

scientific article

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

scientific article published on April 2009

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

scientific article published in April 2017

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