List of works - Lucilene Arilho Ribeiro

A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis ⬇️

scientific article published on July 1, 2011

Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation

scientific article published on 01 August 2005

Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: new case and imaging review of previous cases

scientific article published on 01 August 2005

Clinical findings in patients with GLI2 mutations--phenotypic variability.

scientific article

Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort

scientific article

Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies

scientific article published on 11 April 2012

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

scientific article

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients

scientific article

Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil

scientific article published on February 2010

Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects

scientific article published on 01 August 2005

Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes

scientific article published on 01 June 2009

Holoprosencephaly-like phenotype: clinical and genetic perspectives

scientific article published in December 2006

Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate

scientific article

Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype

scientific article published on 01 October 2006

Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum?

scientific article published in July 2006

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease

scientific article published on January 2006

PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI

scientific article published on 01 December 2006

Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia. A new syndrome?

scientific article published on October 2005

Phonological awareness, working memory, reading and writing performances in familial dyslexia

scientific article

SIX3 mutations with holoprosencephaly

scientific article published on 01 December 2006

Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype

scientific article published on 01 December 2006

Single median maxillary central incisor, hypophyseal tumor, and SHH mutation

scientific article published on 01 August 2005

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.

scientific article published on 26 April 2009

Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence

article

Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly

scientific article

Variable phenotypic manifestations of a K44N mutation in the TGIF gene

scientific article published on 06 September 2007

X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome

article

List of works by Lucilene Arilho Ribeiro

A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis ⬇️

Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation

Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: new case and imaging review of previous cases

Clinical findings in patients with GLI2 mutations--phenotypic variability.

Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort

Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients

Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil

Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects

Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes

Holoprosencephaly-like phenotype: clinical and genetic perspectives

Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles

Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate

Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype

Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum?

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease

PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI

Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia. A new syndrome?

Phonological awareness, working memory, reading and writing performances in familial dyslexia

SIX3 mutations with holoprosencephaly

Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype

Single median maxillary central incisor, hypophyseal tumor, and SHH mutation

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.

Transmission analysis of candidate genes for nonsyndromic oral clefts in Brazilian parent-child triads with recurrence

Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly

Variable phenotypic manifestations of a K44N mutation in the TGIF gene

X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome