List of works - Antonio Richieri-Costa

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

scientific article published on 30 January 2008

22q11.2 deletion syndrome in diverse populations

scientific article published in April 2017

A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities

scientific article published in December 2007

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

scientific article

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

Achados audiológicos e eletrofisiológicos de indivíduos com a síndrome G/BBB

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

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

scientific article published on 01 August 2005

Auditory findings and electrophysiologics in individuals with G/BBB syndrome

scientific article

Birth defects in newborns and stillborns: an example of the Brazilian reality ⬇️

scientific article published on September 9, 2011

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

Cerebro-oculo-nasal syndrome: 13 new Brazilian cases

scientific article published in December 2007

Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.

scientific article published on 22 January 2015

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

scientific article

Clinical genetic study of 144 patients with nonsyndromic hearing loss

scientific article published in December 2004

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

scientific article

Cover Image, Volume 173A, Number 9, September 2017.

scientific article published in September 2017

Craniofacial morphology in patients with velocardiofacial syndrome

scientific article published in May 2010

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

scientific article published on 15 July 2011

Dental anomalies in Richieri-Costa-Pereira syndrome ⬇️

scientific article published on 01 July 2012

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome

scientific article published on 29 February 2016

Down syndrome in diverse populations

scientific article published in January 2017

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

scientific article published on 2 March 2017

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

Fluency aspects of oral narrative task in del22q11.2 syndrome

scientific article

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

scientific article published on 01 August 2010

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

scientific article published in May 2009

Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles

scientific article published in September 2011

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

scientific article

High dosage folic acid supplementation, oral cleft recurrence and fetal growth

scientific article published on 4 February 2013

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

scientific article published in January 2008

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: Clinical evaluation on audiological and brainstem electrophysiological profiles

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

scientific article published on 26 October 2016

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

scientific article published on 01 October 2006

Language, behavior and neurodevelopment in Joubert syndrome: a case report

scientific article published in November 2016

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

scientific article published in July 2006

Mandibulofacial dysostosis Bauru type: Refining the phenotype

scientific article

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

scientific article

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

scientific article

Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia

scientific article published in July 2005

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

scientific article

Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers.

scientific article published in April 2010

Nonsyndromic alar clefts: report of five Brazilian patients

scientific article published on 01 December 2009

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

scientific article published on 01 June 2009

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

scientific article

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

scientific article published on 7 February 2007

Oral cleft prevention program (OCPP).

scientific article

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

scientific article published on 01 April 2008

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

Reply to Dr. Finsterer “Callosal Agenesis and Left Ventricular Hypertrabeculation/Noncompaction”

Reply to Hunter's letter on the "misuse of the descriptor "Marfanoid"".

scientific article

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

scientific article published on 22 December 2010

SIX3 mutations with holoprosencephaly

scientific article published on 01 December 2006

Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.

scientific article

Severe midline craniofacial anomalies: overlap with Pai syndrome

scientific article published on 01 July 2009

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

Síndrome de Silver-Russell: relato de caso

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

scientific article

Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome

scientific article published on 13 June 2008

Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study

scientific article published in July 2004

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

scientific article

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

Variable phenotypic manifestations of a K44N mutation in the TGIF gene

scientific article published on 06 September 2007

Waardenburg syndrome: clinical differentiation between types I and II

scientific article published on 01 March 2003

[Aging and human communication]

scientific article published on 01 October 2008

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures

scientific article published on 01 August 2005

List of works by Antonio Richieri-Costa

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

22q11.2 deletion syndrome in diverse populations

A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities

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

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

Achados audiológicos e eletrofisiológicos de indivíduos com a síndrome G/BBB

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

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

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

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

Auditory findings and electrophysiologics in individuals with G/BBB syndrome

Birth defects in newborns and stillborns: an example of the Brazilian reality ⬇️

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

Cerebro-oculo-nasal syndrome: 13 new Brazilian cases

Cleft lip/palate, short stature, and developmental delay in a boy with a 5.6-mb interstitial deletion involving 10p15.3p14.

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 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

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

Cover Image, Volume 173A, Number 9, September 2017.

Craniofacial morphology in patients with velocardiofacial syndrome

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

Dental anomalies in Richieri-Costa-Pereira syndrome ⬇️

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome

Down syndrome in diverse populations

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

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

Fluency aspects of oral narrative task in del22q11.2 syndrome

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

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

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

Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles

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

High dosage folic acid supplementation, oral cleft recurrence and fetal growth

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

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: Clinical evaluation on audiological and brainstem electrophysiological profiles

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

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

Language, behavior and neurodevelopment in Joubert syndrome: a case report

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

Mandibulofacial dysostosis Bauru type: Refining the phenotype

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

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia

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

Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers.

Nonsyndromic alar clefts: report of five Brazilian patients

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

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 cleft prevention program (OCPP).

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

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?

Reply to Dr. Finsterer “Callosal Agenesis and Left Ventricular Hypertrabeculation/Noncompaction”

Reply to Hunter's letter on the "misuse of the descriptor "Marfanoid"".

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

SIX3 mutations with holoprosencephaly

Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.

Severe midline craniofacial anomalies: overlap with Pai syndrome

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

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

Síndrome de Silver-Russell: relato de caso

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

Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome

Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study

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

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

Variable phenotypic manifestations of a K44N mutation in the TGIF gene

Waardenburg syndrome: clinical differentiation between types I and II

[Aging and human communication]

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures