Lista de obras -

22q11 deletion syndrome and limb anomalies: report on two Brazilian patients.

artículo científico publicado en 2008

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

artículo científico publicado en 2006

Acrofrontofacionasal dysostosis: Report of the third Brazilian family ⬇️

artículo científico publicado el 1 de junio de 2003

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

artículo científico publicado en 2015

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

artículo científico publicado en 2007

Atypical facial clefting in a patient with Goltz syndrome

artículo científico publicado en 2006

Aural atresia and microtia in Kabuki syndrome.

artículo científico publicado en 2003

Aural atresia, microtia, complex heart defect, and hearing loss syndrome: additional case

artículo científico publicado en 2003

Auriculo-condylar syndrome. Confronting a diagnostic challenge

artículo científico publicado en 2011

Auriculo-condylar syndrome: additional patients

artículo científico publicado en 2002

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

artículo científico publicado en 2007

Blepharocheilodontic (BCD) syndrome: expanding the phenotype?

scientific article published on 01 September 2003

Cerebro-oculo-nasal syndrome: 13 new Brazilian cases.

artículo científico publicado en 2007

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis

scientific article published on 09 January 2008

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Clinical genetic study of 144 patients with nonsyndromic hearing loss

artículo científico publicado en 2004

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

Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis

artículo científico publicado en 2010

Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient ⬇️

artículo científico publicado el 1 de octubre de 2003

Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion

scientific article published on 24 May 2012

Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs

artículo científico publicado en 2004

Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients.

artículo científico publicado en 2009

Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?

artículo científico publicado en 2006

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

artículo científico publicado en 2012

Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder.

artículo científico publicado en 2008

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

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.

artículo científico publicado en 2007

Mandibulofacial dysostosis Bauru type: Refining the phenotype.

artículo científico publicado en 2017

Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?

scientific article published on 01 July 2010

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?

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

artículo científico publicado en 2015

Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?

artículo científico publicado en 2004

Nonsyndromic alar clefts: report of five Brazilian patients

scientific article published on 01 December 2009

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

artículo científico publicado en 2014

Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union.

artículo científico publicado en 2007

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

artículo científico publicado en 2007

Oral teratoma, dextrocardia, and congenital heart defect: a nonrandom association or serendipity?

artículo científico publicado en 2008

Pai syndrome: report of seven South American patients

scientific article published on 01 December 2007

Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases

artículo científico publicado en 2010

Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

Severe midline craniofacial anomalies: overlap with Pai syndrome

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Teebi hypertelorism syndrome: additional cases

artículo científico publicado en 2003

Terminal osseous dysplasia and pigmentary defects in a Brazilian girl.

artículo científico publicado en 2008

The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological Considerations

artículo científico publicado en 2004

Unusual nasal duplication in two patients.

artículo científico publicado en 2004

Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene

artículo científico publicado en 2008

Lista de obras de

22q11 deletion syndrome and limb anomalies: report on two Brazilian patients.

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

Acrofrontofacionasal dysostosis: Report of the third Brazilian family ⬇️

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

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

Atypical facial clefting in a patient with Goltz syndrome

Aural atresia and microtia in Kabuki syndrome.

Aural atresia, microtia, complex heart defect, and hearing loss syndrome: additional case

Auriculo-condylar syndrome. Confronting a diagnostic challenge

Auriculo-condylar syndrome: additional patients

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

Blepharocheilodontic (BCD) syndrome: expanding the phenotype?

Cerebro-oculo-nasal syndrome: 13 new Brazilian cases.

Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

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

Clinical genetic study of 144 patients with nonsyndromic hearing loss

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

Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis

Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: report on a male patient ⬇️

Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion

Frontonasal dysplasia, neuronal migration error and lymphoedema of limbs

Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients.

Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder.

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

Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.

Mandibulofacial dysostosis Bauru type: Refining the phenotype.

Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?

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?

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

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?

Nonsyndromic alar clefts: report of five Brazilian patients

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

Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union.

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

Oral teratoma, dextrocardia, and congenital heart defect: a nonrandom association or serendipity?

Pai syndrome: report of seven South American patients

Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases

Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

Severe midline craniofacial anomalies: overlap with Pai syndrome

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

Teebi hypertelorism syndrome: additional cases

Terminal osseous dysplasia and pigmentary defects in a Brazilian girl.

The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal Encephalocele, and Eye Anomalies - Phenotypic and Aetiological Considerations

Unusual nasal duplication in two patients.

Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene