List of works - Roseli Maria Zechi-Ceide

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

scientific article

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

scientific article

Auriculo-condylar syndrome. Confronting a diagnostic challenge

scientific article published on 21 November 2011

Auriculo-condylar syndrome: additional patients

scientific article published on 01 October 2002

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

scientific article published on 14 November 2007

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

scientific article

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

scientific article published in December 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.

scientific article published on 26 March 2014

Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.

scientific article

EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome

scientific article published on 2 March 2017

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

scientific article published on 24 May 2012

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

scientific article

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

scientific article published in January 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.

scientific article published in July 2007

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

scientific article published on 26 October 2016

Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings

scientific article published on 18 June 2012

Mandibulofacial dysostosis Bauru type: Refining the phenotype.

scientific article

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?

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

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

scientific article

Novel mutations inIRF6in nonsyndromic cleft lip with or without cleft palate: When shouldIRF6mutational screening be done?

scientific article published on 01 June 2009

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

scientific article

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

scientific article

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

scientific article published on 01 April 2008

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

scientific article published on 22 December 2010

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

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

scientific article published in April 2017

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

scientific article published in July 2008

List of works by Roseli Maria Zechi-Ceide

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

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

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

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

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.

Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.

EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome

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

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.

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

Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings

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?

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

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

Novel mutations inIRF6in nonsyndromic cleft lip with or without cleft palate: When shouldIRF6mutational screening be done?

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.

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

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

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

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