Antonio Richieri-Costa

Antonio Richieri-Costa

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Antonio Richieri-Costa

Antonio Richieri-Costa

Publications by authors named "Antonio Richieri-Costa"

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94Publications

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Craniofacial Morphology in Patients With Opitz G/BBB Syndrome.

Cleft Palate Craniofac J 2019 Nov 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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http://dx.doi.org/10.1177/1055665619857001DOI Listing
November 2019

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

Genet Mol Biol 2019 Aug 12. Epub 2019 Aug 12.

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

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http://dx.doi.org/10.1590/1678-4685-GMB-2018-0186DOI Listing
August 2019

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

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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http://dx.doi.org/10.1097/SCS.0000000000004588DOI Listing
September 2018

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

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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http://dx.doi.org/10.1597/16-161DOI Listing
July 2017

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

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

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

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http://dx.doi.org/10.1590/2317-1782/20162015184DOI Listing
July 2017

Mandibulofacial dysostosis Bauru type: Refining the phenotype.

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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http://dx.doi.org/10.1002/ajmg.a.38257DOI Listing
July 2017

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

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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http://dx.doi.org/10.1055/s-0036-1588028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423795PMC
June 2017

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

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

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

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http://dx.doi.org/10.1590/2317-1782/20162015179DOI Listing
March 2017

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

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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http://dx.doi.org/10.1159/000450971DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131332PMC
November 2016

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

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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http://link.springer.com/10.1007/s00438-015-1072-0
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http://dx.doi.org/10.1007/s00438-015-1072-0DOI Listing
December 2015

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

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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http://dx.doi.org/10.1097/MCD.0000000000000085DOI Listing
October 2015

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

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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http://dx.doi.org/10.1159/000371404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369120PMC
February 2015

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

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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http://dx.doi.org/10.1016/j.jcms.2014.08.007DOI Listing
December 2014

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

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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http://dx.doi.org/10.3233/PGE-13066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020977PMC
December 2013

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

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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http://dx.doi.org/10.3390/ijerph10020590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3635165PMC
February 2013

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

Birth Defects Res A Clin Mol Teratol 2012 Nov 27;94(11):912-7. Epub 2012 Jul 27.

Molecular Genetics Laboratory and Clinical Genetics Service, Hospital for Rehabilitation and Craniofacial Anomalies, University of Sao Paolo, Bauru, Sao Paolo, Brazil.

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http://dx.doi.org/10.1002/bdra.23047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501551PMC
November 2012

Auditory findings and electrophysiologics in individuals with G/BBB syndrome.

Braz J Otorhinolaryngol 2011 Nov-Dec;77(6):768-74

Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brasil.

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September 2012

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

Am J Med Genet A 2012 Aug 27;158A(8):2003-8. Epub 2012 Jun 27.

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

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http://dx.doi.org/10.1002/ajmg.a.35454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724514PMC
August 2012

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

Am J Med Genet A 2012 Jul 24;158A(7):1676-9. Epub 2012 May 24.

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

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http://dx.doi.org/10.1002/ajmg.a.35351DOI Listing
July 2012

Dental anomalies in Richieri-Costa-Pereira syndrome.

Oral Surg Oral Med Oral Pathol Oral Radiol 2012 Jul;114(1):99-106

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

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http://dx.doi.org/10.1016/j.oooo.2012.03.009DOI Listing
July 2012

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

Am J Med Genet A 2012 May 11;158A(5):1233-5. Epub 2012 Apr 11.

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

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http://dx.doi.org/10.1002/ajmg.a.35305DOI Listing
May 2012

Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles.

Braz J Otorhinolaryngol 2011 Sep-Oct;77(5):611-5

Rua Silvio Marchione, 3-20-Vila Universitária, Bauru-SP, Brazil.

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http://dx.doi.org/10.1590/s1808-86942011000500013DOI Listing
March 2012

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

BMC Res Notes 2011 Sep 9;4:343. Epub 2011 Sep 9.

Departamento de Biologia Molecular, Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, SP, Brasil.

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http://dx.doi.org/10.1186/1756-0500-4-343DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3180470PMC
September 2011

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

Am J Med Genet A 2011 Feb 22;155A(2):322-31. Epub 2010 Dec 22.

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

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http://dx.doi.org/10.1002/ajmg.a.33806DOI Listing
February 2011

Assessment of the auditory handicap in adults with unilateral hearing loss.

Braz J Otorhinolaryngol 2010 May-Jun;76(3):378-83

The Science of Communicaton Disorders, Sao Paulo University Hospital for the Rehabilitaton of Craniofacial Anomalies (HRAC-USP), Brazil.

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January 2011

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

Am J Med Genet A 2010 Aug;152A(8):2039-42

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

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http://dx.doi.org/10.1002/ajmg.a.33485DOI Listing
August 2010

Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients.

Am J Med Genet A 2010 Jul;152A(7):1688-94

Molecular Genetics Laboratory and Clinical Genetic Service, Hospital for Rehabilitation of Craniofacial Anomalies, USP, Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.33466DOI Listing
July 2010

Craniofacial morphology in patients with velocardiofacial syndrome.

Cleft Palate Craniofac J 2010 May;47(3):241-6

HRAC/USP-Setor de Odontopediatria e Saúde Coletiva, Rua Silvio Marchione, 3-20, Vila Universitária, CEP 17012-900, Bauru, SP, Brazil.

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http://dx.doi.org/10.1597/08-278.1DOI Listing
May 2010

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

Clin Dysmorphol 2010 Apr;19(2):76-8

Departamento de Fonoaudiologia, FOB-USP, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brazil.

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http://dx.doi.org/10.1097/MCD.0b013e32833034fcDOI Listing
April 2010

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

Brain Dev 2010 Mar 26;32(3):217-22. Epub 2009 Apr 26.

Hospital de Reabilitação de Anomalias Craniofaciais, Departament of Genetics, USP/Bauru, Rua Sílvio Marchione, 3-20, Bauru, SP, Brazil.

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http://dx.doi.org/10.1016/j.braindev.2009.02.014DOI Listing
March 2010

Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):149-57

Department of Clinical Genetics, Hospital de Reabilitação de Anornalias Craniofaciais, Universidade de São Paulo, Bauro, S.P., Brazil.

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http://dx.doi.org/10.1002/ajmg.c.30247DOI Listing
February 2010

Nonsyndromic alar clefts: report of five Brazilian patients.

Am J Med Genet A 2009 Dec;149A(12):2765-7

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

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http://dx.doi.org/10.1002/ajmg.a.32845DOI Listing
December 2009

Severe midline craniofacial anomalies: overlap with Pai syndrome.

Clin Dysmorphol 2009 Jul;18(3):154-7

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

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http://dx.doi.org/10.1097/MCD.0b013e32832443c8DOI Listing
July 2009

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

Am J Med Genet A 2009 Jun;149A(6):1277-9

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

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http://dx.doi.org/10.1002/ajmg.a.32844DOI Listing
June 2009

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

Am J Med Genet A 2009 Jun;149A(6):1319-22

Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.32849DOI Listing
June 2009

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

Am J Med Genet A 2009 May;149A(5):1006-11

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

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http://dx.doi.org/10.1002/ajmg.a.32717DOI Listing
May 2009

[Aging and human communication].

Pro Fono 2008 Oct-Dec;20(4):215-6

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http://dx.doi.org/10.1590/s0104-56872008000400002DOI Listing
April 2009

Cerebro-oculo-nasal syndrome: report of a case with a severe phenotype.

Am J Med Genet A 2009 Mar;149A(3):519-20

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

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http://dx.doi.org/10.1002/ajmg.a.32588DOI Listing
March 2009

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

Cleft Palate Craniofac J 2008 Sep 30;45(5):561-6. Epub 2008 Jan 30.

Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil.

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http://dx.doi.org/10.1597/06-170.1DOI Listing
September 2008

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.

Eur J Med Genet 2008 May-Jun;51(3):183-96. Epub 2008 Jan 9.

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Rua Silvio Marchione 3-20, CEP 17012-900, Bauru, SP, Brazil.

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http://dx.doi.org/10.1016/j.ejmg.2007.12.008DOI Listing
August 2008

Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008 Aug 13;106(2):e46-51. Epub 2008 Jun 13.

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

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http://dx.doi.org/10.1016/j.tripleo.2008.04.019DOI Listing
August 2008

Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.

Am J Med Genet A 2008 Aug;146A(16):2134-7

Departamento de Genética, Instituto de Biociências, Universidade Estadual Paulista/UNESP, Botucatu, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.32428DOI Listing
August 2008

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

Am J Med Genet A 2008 Jul;146A(13):1772

Departamento de Fonoaudiologia, UNESP, Marília, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.32373DOI Listing
July 2008

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

Clin Dysmorphol 2008 Jul;17(3):225-6

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

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http://dx.doi.org/10.1097/MCD.0b013e3282fe1b8eDOI Listing
July 2008

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

Clin Dysmorphol 2008 Apr;17(2):149-50

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

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http://dx.doi.org/10.1097/MCD.0b013e3282f254b7DOI Listing
April 2008

Variable phenotypic manifestations of a K44N mutation in the TGIF gene.

Brain Dev 2008 Mar 6;30(3):203-5. Epub 2007 Sep 6.

Departamento de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Rua Silvio Marchioni 320, CEP 17012-900, Bauru, SP, Brazil.

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http://dx.doi.org/10.1016/j.braindev.2007.07.012DOI Listing
March 2008

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

Clin Dysmorphol 2008 Jan;17(1):41-6

Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil.

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http://dx.doi.org/10.1097/MCD.0b013e328274244fDOI Listing
January 2008

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

Am J Med Genet A 2007 Dec;143A(24):3295-301

Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Sao Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.32019DOI Listing
December 2007

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

Am J Med Genet A 2007 Dec;143A(24):3252-66

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

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http://doi.wiley.com/10.1002/ajmg.a.32090
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http://dx.doi.org/10.1002/ajmg.a.32090DOI Listing
December 2007

Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.

Mol Cell Biochem 2007 Sep 11;303(1-2):9-17. Epub 2007 Apr 11.

Molecular Immunogenetics Group, Department of Genetics, Faculty of Medicine of Ribeirão Preto, University of São Paulo (USP), Ribeirao Preto, SP, Brazil.

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http://dx.doi.org/10.1007/s11010-007-9450-5DOI Listing
September 2007

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

Clin Ophthalmol 2007 Jun;1(2):183-7

Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2704508PMC
June 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.

Eur J Hum Genet 2007 Apr 7;15(4):411-21. Epub 2007 Feb 7.

Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brazil.

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http://www.nature.com/articles/5201770
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http://dx.doi.org/10.1038/sj.ejhg.5201770DOI Listing
April 2007

[Macrosomia and auditory abilities: a comparative study].

Pro Fono 2005 May-Aug;17(2):223-32

Fonoaudióloga, Doutora em Ciências Biológicas pelo Instituto de Biociências da Universidade Estadual Paulista, Botucatu.

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http://dx.doi.org/10.1590/s0104-56872005000200011DOI Listing
March 2007

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

Am J Med Genet A 2007 Feb;143(4):320-5

Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.31592DOI Listing
February 2007

SIX3 mutations with holoprosencephaly.

Am J Med Genet A 2006 Dec;140(23):2577-83

Laboratorio de Genetica Molecular do HRAC-USP, Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.31377DOI Listing
December 2006

PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.

Am J Med Genet A 2006 Dec;140(23):2584-6

Serviço de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.31369DOI Listing
December 2006

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

Am J Med Genet A 2006 Dec;140(23):2571-6

Department of Pediatrics, University of Iowa, Iowa, USA.

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http://dx.doi.org/10.1002/ajmg.a.31370DOI Listing
December 2006

Holoprosencephaly: clinical evaluation on audiological and brainstem electrophysiological profiles.

Am J Med Genet A 2006 Oct;140(19):2142-5

Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.31296DOI Listing
October 2006

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

Am J Med Genet A 2006 Oct;140(19):2085-90

Division of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, University of São Paulo, Bauru, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.31311DOI Listing
October 2006

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

Cleft Palate Craniofac J 2006 Jul;43(4):429-34

Speech-Hearing Genetics Department, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil.

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http://dx.doi.org/10.1597/05-060.1DOI Listing
July 2006

Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia. A new syndrome?

Clin Dysmorphol 2005 Oct;14(4):197-201

Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil.

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http://dx.doi.org/10.1097/00019605-200510000-00006DOI Listing
October 2005

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

Am J Med Genet A 2005 Aug;136A(4):377-80

Unidad de Genética Medica, Escuela de Ciencias de la Salud, Núcleo Bolívar, Universidad de Oriente, Ciudad Bolívar, Estado Bolívar, Venezuela.

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http://dx.doi.org/10.1002/ajmg.a.30665DOI Listing
August 2005

Clinical genetic study of 144 patients with nonsyndromic hearing loss.

Am J Audiol 2004 Dec;13(2):99-103

Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil.

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http://dx.doi.org/10.1044/1059-0889(2004/013)DOI Listing
December 2004

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

Am J Med Genet A 2004 Aug;129A(2):156-61

Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.30153DOI Listing
August 2004

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

Cleft Palate Craniofac J 2004 Jul;41(4):387-91

Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Brazil.

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http://dx.doi.org/10.1597/03-054.1DOI Listing
July 2004

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

Int J Med Sci 2004 10;1(1):34-42. Epub 2004 Mar 10.

Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru-SP, Brasil.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1074508PMC
http://dx.doi.org/10.7150/ijms.1.34DOI Listing
March 2004

Waardenburg syndrome: clinical differentiation between types I and II.

Am J Med Genet A 2003 Mar;117A(3):223-35

Departamento de Biologia, Instituto de Biociências USP, Caixa Postal 11461, 05422-970 São Paulo SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.10193DOI Listing
March 2003