Publications by authors named "Antonio Richieri-Costa"

97 Publications

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

Authors:

Siulan Vendramini-Pittoli Rosana Maria Candido-Souza Rodrigo Gonçalves Quiezi Roseli Maria Zechi-Ceide Nancy Mizue Kokitsu-Nakata Fernanda Sarquis Jehee Lucilene Arilho Ribeiro-Bicudo David R FitzPatrick Maria Leine Guion-Almeida Antonio Richieri-Costa

J Pediatr Genet 2020 Dec 3;9(4):258-262. Epub 2020 Jan 3.

Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.

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December 2020

[Formula: see text] Neuropsychological functioning and its relationship with brain anatomical measures of children and adolescents with non-syndromic cleft lip and palate.

Authors:

Patrícia Soares Baltazar Bodoni Renata Ferranti Leoni Arthur Bernardi do Vale Pedro Henrique Rodrigues da Silva Silvio Garcia Meira Junior Antonio Richieri Costa Maria De Lourdes Merighi Tabaquim

Child Neuropsychol 2021 Jan 16;27(1):2-16. Epub 2020 Jun 16.

Craniofacial Anomaly Rehabilitation Hospital, University of São Paulo , Bauru, Brazil.

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January 2021

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

Authors:

Rayane de Oliveira Pinto Adriano Porto Peixoto Ary Dos Santos Pinto Antonio Richieri-Costa Dirceu Barnabé Raveli Cristiano Tonello Gisele da Silva Dalben

J Craniofac Surg 2020 Jun;31(4):e356-e359

Pediatric and Community Dentistry Sector, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil.

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June 2020

Turner syndrome in diverse populations.

Authors:

Paul Kruszka Yonit A Addissie Cedrik Tekendo-Ngongang Kelly L Jones Sarah K Savage Neerja Gupta Nirmala D Sirisena Vajira H W Dissanayake C Sampath Paththinige Teresa Aravena Sheela Nampoothiri Dhanya Yesodharan Katta M Girisha Siddaramappa Jagdish Patil Saumya Shekhar Jamuar Jasmine Chew-Yin Goh Agustini Utari Nydia Sihombing Rupesh Mishra Neer Shoba Chitrakar Brenda C Iriele Ezana Lulseged Andre Megarbane Annette Uwineza Elizabeth Eberechi Oyenusi Oluwarotimi Bolaji Olopade Olufemi Adetola Fasanmade Milagros M Duenas-Roque Meow-Keong Thong Joanna Y L Tung Gary T K Mok Nicole Fleischer Godfrey M Rwegerera María Beatriz de Herreros Johnathan Watts Karen Fieggen Victoria Huckstadt Angélica Moresco María Gabriela Obregon Dalia Farouk Hussen Neveen A Ashaat Engy A Ashaat Brian H Y Chung Eben Badoe Sultana M H Faradz Mona O El Ruby Vorasuk Shotelersuk Ambroise Wonkam Ekanem Nsikak Ekure Shubha R Phadke Antonio Richieri-Costa Maximilian Muenke

Am J Med Genet A 2020 02 19;182(2):303-313. Epub 2019 Dec 19.

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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February 2020

Birth defects in Brazil: Outcomes of a population-based study.

Authors:

Camila Ive Ferreira Oliveira-Brancati Valéria Cristina Carvalho Ferrarese Antonio Richieri Costa Agnes Cristina Fett-Conte

Genet Mol Biol 2020 10;43(1):e20180186. Epub 2020 Feb 10.

Faculdade de Medicina de São José do Rio Preto (FAMERP/FUNFARME), São José do Rio Preto, SP, Brazil.

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February 2020

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

Authors:

Antonio Richieri-Costa Roseli M Zechi-Ceide Rosana M Candido-Souza Rejane A C Monteiro Cristiano Tonello Mariana L de Freitas Nancy M Kokitsu-Nakata Siulan Vendramini-Pittoli Juliana F Mazzeu Madelief Overes Roza Ali-Amin Marjon van Slegtenhorst Lies H Hoefsloot Fernanda S Jehee

Am J Med Genet A 2019 11 28;179(11):2170-2177. Epub 2019 Jul 28.

Institute of Education and Research, Santa Casa Belo Horizonte, Belo Horizonte, Minas Gerais, Brazil.

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November 2019

Craniofacial Morphology in Patients With Opitz G/BBB Syndrome.

Authors:

Gisele da Silva Dalben Daniela Gamba Garib Rayane de Oliveira Pinto Antonio Richieri-Costa Luís Antônio de Assis Taveira

Cleft Palate Craniofac J 2019 11 19;56(10):1366-1372. Epub 2019 Jun 19.

Discipline of Oral Pathology, Bauru Dental School, University of São Paulo, Bauru, Brazil.

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November 2019

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.

Authors:

Erich Roessler Ping Hu Juliana Marino Sungkook Hong Rachel Hart Seth Berger Ariel Martinez Yu Abe Paul Kruszka James W Thomas James C Mullikin Yupeng Wang Wendy S W Wong John E Niederhuber Benjamin D Solomon Antônio Richieri-Costa L A Ribeiro-Bicudo Maximilian Muenke

Hum Mutat 2018 10 26;39(10):1416-1427. Epub 2018 Jul 26.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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October 2018

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

Authors:

Rayane de Oliveira Pinto Adriano Porto Peixoto Ary Dos Santos Pinto Antonio Richieri-Costa Roseli Maria Zechi-Ceide Terumi Okada Ozawa Gisele da Silva Dalben

J Craniofac Surg 2018 Sep;29(6):1596-1600

Pediatric and Community Dentistry Sector, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil.

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September 2018

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

Eur J Hum Genet 2018 02 18;26(2):210-219. Epub 2018 Jan 18.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands.

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February 2018

Noonan syndrome in diverse populations.

Authors:

Paul Kruszka Antonio R Porras Yonit A Addissie Angélica Moresco Sofia Medrano Gary T K Mok Gordon K C Leung Cedrik Tekendo-Ngongang Annette Uwineza Meow-Keong Thong Premala Muthukumarasamy Engela Honey Ekanem N Ekure Ogochukwu J Sokunbi Nnenna Kalu Kelly L Jones Julie D Kaplan Omar A Abdul-Rahman Lisa M Vincent Amber Love Khadija Belhassan Karim Ouldim Ihssane El Bouchikhi Anju Shukla Katta M Girisha Siddaramappa J Patil Nirmala D Sirisena Vajira H W Dissanayake C Sampath Paththinige Rupesh Mishra Eva Klein-Zighelboim Bertha E Gallardo Jugo Miguel Chávez Pastor Hugo H Abarca-Barriga Steven A Skinner Eloise J Prijoles Eben Badoe Ashleigh D Gill Vorasuk Shotelersuk Patroula Smpokou Monisha S Kisling Carlos R Ferreira Leon Mutesa Andre Megarbane Antonie D Kline Amy Kimball Emmy Okello Peter Lwabi Twalib Aliku Emmanuel Tenywa Nonglak Boonchooduang Pranoot Tanpaiboon Antonio Richieri-Costa Ambroise Wonkam Brian H Y Chung Roger E Stevenson Marshall Summar Kausik Mandal Shubha R Phadke María G Obregon Marius G Linguraru Maximilian Muenke

Am J Med Genet A 2017 Sep 27;173(9):2323-2334. Epub 2017 Jul 27.

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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September 2017

Mandibulofacial dysostosis Bauru type: Refining the phenotype.

Authors:

Priscila P Moura Nancy M Kokitsu-Nakata Marília S Yatabe Siulan Vendramini-Pittoli Pedro H Hori Maria L Guion-Almeida Daniela G Garib Antonio Richieri-Costa Roseli M Zechi-Ceide

Am J Med Genet A 2017 Jul 30;173(7):1747-1753. Epub 2017 May 30.

Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA/USP), Bauru, São Paulo, Brazil.

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July 2017

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

Authors:

Antonio Richieri-Costa Siulan Vendramini-Pittoli Nancy Mizue Kokitsu-Nakata Roseli Maria Zechi-Ceide Camila Wenceslau Alvarez Lucilene Arilho Ribeiro-Bicudo

J Pediatr Genet 2017 Jun 14;6(2):103-106. Epub 2016 Sep 14.

Departamento de Genética, Instituto de Ciências Biológicas, Universidade Federal de Goias, Goiania, Goiás, Brazil.

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June 2017

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

Authors:

Emily E Miller Gerson S Kobayashi Camila M Musso Miranda Allen Felipe A A Ishiy Luiz Carlos de Caires Ernesto Goulart Karina Griesi-Oliveira Roseli M Zechi-Ceide Antonio Richieri-Costa Debora R Bertola Maria Rita Passos-Bueno Debra L Silver

Hum Mol Genet 2017 06;26(12):2177-2191

Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA.

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June 2017

22q11.2 deletion syndrome in diverse populations.

Am J Med Genet A 2017 Apr;173(4):879-888

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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April 2017

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

Authors:

Dionísia Aparecida Cusin Lamônica Camila da Costa Ribeiro Antonio Richieri-Costa Célia Maria Giacheti

Codas 2016 Nov-Dec;28(6):823-827

Universidade Estadual Paulista - UNESP - Marília (SP), Brasil.

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July 2017

Down syndrome in diverse populations.

Am J Med Genet A 2017 Jan;173(1):42-53

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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January 2017

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

Authors:

Bruno F Gamba Roseli M Zechi-Ceide Nancy M Kokitsu-Nakata Siulan Vendramini-Pittoli Carla Rosenberg Ana C V Krepischi Santos Lucilene Ribeiro-Bicudo Antonio Richieri-Costa

Mol Syndromol 2016 Nov 26;7(6):344-348. Epub 2016 Oct 26.

Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, Brazil.

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November 2016

Fluency aspects of oral narrative task in del22q11.2 syndrome.

Authors:

Amanda Oliveira Santos Natalia Freitas Rossi Maria da Conceição Faria Freitas Tandel Antonio Richieri-Costa Célia Maria Giacheti

Codas 2016 Jul-Aug;28(4):373-8. Epub 2016 Aug 4.

Universidade Estadual Paulista - UNESP - Marília (SP), Brasil.

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March 2017

About Cuddapah et al. Paper Entitled "IRF6 Sequencing in Interrupted Clefting".

Authors:

Camila Wenceslau Alvarez Maria Leine Guion-Almeida Antonio Richieri-Costa

Cleft Palate Craniofac J 2017 07 21;54(4):494. Epub 2016 Jul 21.

Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil.

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July 2017

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

Authors:

Sungkook Hong Ping Hu Juliana Marino Sophia B Hufnagel Robert J Hopkin Alma Toromanović Antonio Richieri-Costa Lucilene A Ribeiro-Bicudo Paul Kruszka Erich Roessler Maximilian Muenke

Hum Mol Genet 2016 05 29;25(10):1912-1922. Epub 2016 Feb 29.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA,

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May 2016

Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies.

Authors:

Bruno Faulin Gamba Antônio Richieri-Costa Silvia Costa Carla Rosenberg Lucilene Arilho Ribeiro-Bicudo

Mol Genet Genomics 2015 Dec 4;290(6):2213-6. Epub 2015 Jun 4.

Department of Genetics, Institute of Biosciences, University of São Paulo State, Botucatu, SP, Brazil.

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December 2015

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

Authors:

Bruno F Gamba Carla Rosenberg Silvia Costa Antonio Richieri-Costa Lucilene A Ribeiro-Bicudo

Mol Syndromol 2015 Feb 22;6(1):39-43. Epub 2015 Jan 22.

Department of Genetics, Institute of Biosciences, São Paulo, Brazil ; Department of Genetics, Institute of Biosciences, Federal University of Goias, Goiânia, Brazil.

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February 2015

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

Authors:

Siulan Vendramini-Pittoli Maria L Guion-Almeida Juliana M Santos Silvio M Garcia Júnior Mauricio M Yoshida Antonio Richieri-Costa Nancy M Kokitsu-Nakata

Clin Dysmorphol 2015 Oct;24(4):144-50

aDepartment of Clinical Genetics bProgram of Postgraduate in Science of Rehabilitation cDepartment of Craniofacial Surgery, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo dMedical Diagnosis Imaging, Portuguese Charity Hospital, Bauru, São Paulo, Brazil.

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October 2015

Clinical and genetic study on 356 Brazilian patients with a distinct phenotype of cleft lip and palate without alveolar ridge involvement.

Authors:

Camila Wenceslau Alvarez Maria Leine Guion-Almeida Antonio Richieri-Costa

J Craniomaxillofac Surg 2014 Dec 7;42(8):1952-7. Epub 2014 Sep 7.

Clinical Genetics Department of the Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, (HRCA-USP), Bauru, SP, Brazil.

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December 2014

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

Authors:

Francine P Favaro Lucas Alvizi Roseli M Zechi-Ceide Debora Bertola Temis M Felix Josiane de Souza Salmo Raskin Stephen R F Twigg Andrea M J Weiner Pablo Armas Ezequiel Margarit Nora B Calcaterra Gregers R Andersen Simon J McGowan Andrew O M Wilkie Antonio Richieri-Costa Maria L G de Almeida Maria Rita Passos-Bueno

Am J Hum Genet 2014 Jan 19;94(1):120-8. Epub 2013 Dec 19.

Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, 05508-090, São Paulo, São Paulo, Brasil. Electronic address:

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January 2014

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

Authors:

Siulan Vendramini-Pittoli Maria L Guion-Almeida Antonio Richieri-Costa Juliana M Santos Nancy M Kokitsu-Nakata

J Pediatr Genet 2013 Dec;2(4):173-80

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, SP, Brazil.

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December 2013

A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.

Authors:

Roseli Maria Zechi-Ceide Priscila Padilha Moura Salmo Raskin Antonio Richieri-Costa Maria Leine Guion-Almeida

Am J Med Genet A 2013 Aug 9;161A(8):2088-94. Epub 2013 Jul 9.

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC/USP), Bauru, São Paulo, Brazil.

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August 2013

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

Authors:

George L Wehby Têmis Maria Félix Norman Goco Antonio Richieri-Costa Hrishikesh Chakraborty Josiane Souza Rui Pereira Carla Padovani Danilo Moretti-Ferreira Jeffrey C Murray

Int J Environ Res Public Health 2013 Feb 4;10(2):590-605. Epub 2013 Feb 4.

Department of Health Management and Policy, University of Iowa, Iowa City, IA 52242, USA.

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February 2013

Oral cleft prevention program (OCPP).

Authors:

George L Wehby Norman Goco Danilo Moretti-Ferreira Temis Felix Antonio Richieri-Costa Carla Padovani Fernanda Queiros Camilla Vila Nova Guimaraes Rui Pereira Steve Litavecz Tyler Hartwell Hrishikesh Chakraborty Lorette Javois Jeffrey C Murray

BMC Pediatr 2012 Nov 26;12:184. Epub 2012 Nov 26.

University of Iowa, Iowa City, IA, USA.

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November 2012