Antonio Costa-Richieri

Bauru, SP, Brazil

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 35 publications

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Journal: Human mutation

Published: June 24, 2021

Neuropsychological functioning and its relationship with brain anatomical measures of children and adolescents with non-syndromic cleft lip and palate.

Neuropsychological functioning and its relationship with brain anatomical measures of children and adolescents with non-syndromic cleft lip and palate.

Journal: Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence

Published: June 18, 2020

Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations).

Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations).

Journal: The Journal of craniofacial surgery

Published: March 29, 2020

Turner syndrome in diverse populations.

Turner syndrome in diverse populations.

Journal: American journal of medical genetics. Part A

Published: September 11, 2019

Craniofacial Morphology in Patients With Opitz G/BBB Syndrome.

Craniofacial Morphology in Patients With Opitz G/BBB Syndrome.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association

Published: June 21, 2019

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.

Journal: Journal of pediatric genetics

Published: June 17, 2019

Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome.

Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome.

Journal: The Journal of craniofacial surgery

Published: June 05, 2018

Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.

Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.

Journal: American journal of medical genetics. Part A

Published: May 24, 2018

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.

Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling.

Journal: Human mutation

Published: April 09, 2018

Noonan syndrome in diverse populations.

Noonan syndrome in diverse populations.

Journal: American journal of medical genetics. Part A

Published: May 05, 2017

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Journal: European journal of human genetics : EJHG

Published: April 11, 2017

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

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

Journal: Human molecular genetics

Published: January 18, 2017

Showing 1-12 of 35

Last Updated: 09/26/2026