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Antonio Richieri-Costa

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Brazil

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George L Wehby; Hrishikesh Chakraborty; Têmis Maria Félix; Norman Goco; Danilo Moretti-Ferreira; Carla Padovani; Rui Pereira; Antonio Richieri-Costa; Josiane Souza; Jeffrey C Murray
High dosage folic acid supplementation, oral cleft recurrence and fetal growth.
Lucilene A Ribeiro; Antonio Richieri-Costa; Erich Roessler; Nan Zhou; Settara Chandrasekharappa; Ping Hu; Marypat Jones; Daniel E Pineda-Alvarez; Maximilian Muenke
Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.
Nancy Mizue Kokitsu-Nakata; Jeffrey Clark Murray; Aline Lourenço Petrin; Daniela Vera Cruz dos Santos; Jason Paul Heard; Laura E Henkle; Siulan Vendramini-Pittoli; Antonio Richieri-Costa
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.

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2013: George L Wehby; Hrishikesh Chakraborty; Têmis Maria Félix; Norman Goco; Danilo Moretti-Ferreira; Carla Padovani; Rui Pereira; Antonio Richieri-Costa; Josiane Souza; Jeffrey C Murray
High dosage folic acid supplementation, oral cleft recurrence and fetal growth.
International journal of environmental research and public health 2013;10(2):590-605.
2012: Lucilene A Ribeiro; Antonio Richieri-Costa; Erich Roessler; Nan Zhou; Settara Chandrasekharappa; Ping Hu; Marypat Jones; Daniel E Pineda-Alvarez; Maximilian Muenke
Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.
Birth defects research. Part A, Clinical and molecular teratology 2012;94(11):912-7.
2012: Nancy Mizue Kokitsu-Nakata; Jeffrey Clark Murray; Aline Lourenço Petrin; Daniela Vera Cruz dos Santos; Jason Paul Heard; Laura E Henkle; Siulan Vendramini-Pittoli; Antonio Richieri-Costa
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.
American journal of medical genetics. Part A 2012;158A(8):2003-8.
2012: Janete Mary Baaclini Galante Severini; Antonio Richieri-Costa; Gisele da Silva Dalben; Terumi Okada Ozawa
Dental anomalies in Richieri-Costa-Pereira syndrome.
Oral surgery, oral medicine, oral pathology and oral radiology 2012;114(1):99-106.
2012: Maria Leine Guion-Almeida; Fernanda Sarquis Jehee; Maria Rita Passos-Bueno; Antonio Richieri-Costa; Roseli Maria Zechi-Ceide
Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion.
American journal of medical genetics. Part A 2012;158A(7):1676-9.
2012: Lucilene Arilho Ribeiro-Bicudo; Maria Leine Guion-Almeida; Chiara Legnaro; Rodrigo G Quiezi; Antonio Richieri-Costa
Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies.
American journal of medical genetics. Part A 2012;158A(5):1233-5.
2012: George L Wehby; Carla Padovani; Rui Pereira; Fernanda Queiros; Antonio Richieri-Costa; Hrishikesh Chakraborty; Temis Felix; Norman Goco; Camilla Vila Nova Guimaraes; Tyler Hartwell; Lorette Javois; Steve Litavecz; Danilo Moretti-Ferreira; Jeffrey C Murray
Oral cleft prevention program (OCPP).
BMC pediatrics 2012;12():184.
2012: Erich Roessler; Raman Sood; Kshitij Srivastava; Blake Carrington; Laura Elnitski; Benjamin Feldman; Sung-Kook Hong; Ping Hu; Ward F Odenwald; Hanna Petrykowska; Lucilene A Ribeiro; Antonio Richieri-Costa; Maximilian Muenke
Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly.
PloS one 2012;7(7):e39026.
2011: Tatiana Vialôgo Cassab; Célia Maria Giacheti; Sthella Zanchetta; Neivo Luiz Zorzetto; Antonio Richieri-Costa
Auditory findings and electrophysiologics in individuals with G/BBB syndrome.
Brazilian journal of otorhinolaryngology 2011;77(6):768-74.
2011: Melissa Zattoni Antoneli; Kátia Flores Genaro; Célia Maria Giacheti; Neivo Luiz Zorzetto; Antonio Richieri-Costa
Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles.
Brazilian journal of otorhinolaryngology 2011;77(5):611-5.
2011: Irfan Saadi; Ursela Siddiqui; Annick Turbe-Doan; Cynthia C Morton; Jeffrey C Murray; Aline L Petrin; Antonio Richieri-Costa; Fowzan S Alkuraya; Resy Cavallesco; Robert P Erickson; Stephen S Gisselbrecht; Thomas W Glover; Wolfram Goessling; Arthur W Grix; James Harris; Hanne D Hove; Philippe Leboulch; Richard L Maas
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
American journal of human genetics 2011;89(1):44-55.
2011: Lucilene Arilho Ribeiro; Claudia Danielli Pereira Bertolacini; Rodrigo Gonçalves Quiezi; Antonio Richieri-Costa
A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis.
Clinical dysmorphology 2011;20(3):160-2.
2011: Francine Pinheiro Favaro; Roseli Maria Zechi-Ceide; Camila Wenceslau Alvarez; Luciana P Maximino; Luis Fernando B B Antunes; Antonio Richieri-Costa; Maria Leine Guion-Almeida
Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases.
American journal of medical genetics. Part A 2011;155A(2):322-31.
2011: Camila Ive Ferreira Oliveira; Antonio Richieri-Costa; Valéria Cristina Carvalho Ferrarese; Denise Cristina Móz Vaz; Agnes Cristina Fett-Conte
Birth defects in newborns and stillborns: an example of the Brazilian reality.
BMC research notes 2011;4():343.
2010: Aline L Petrin; Célia M Giacheti; Luciana P Maximino; Dagma V M Abramides; Sthella Zanchetta; Natalia F Rossi; Antonio Richieri-Costa; Jeffrey C Murray
Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case.
American journal of medical genetics. Part A 2010;152A(12):3164-72.
2010: Dionísia A C Lamônica; Luciana P Maximino; Mariza Ribeiro Feniman; Greyce K Silva; Sthella Zanchetta; Dagma V M Abramides; Maria Rita Passos-Bueno; Kátia Rocha; Antonio Richieri-Costa
Saethre-Chotzen Syndrome, Pro136His TWIST Mutation, Hearing Loss, and External and Middle Ear Structural Anomalies: Report on a Brazilian Family.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2010;47(5):548-52.
2010: Maria Leine Guion-Almeida; Antonio Richieri-Costa
Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis.
American journal of medical genetics. Part A 2010;152A(8):2039-42.
2010: Lucilene Arilho Ribeiro; Rodrigo Gonçalves Quiezi; Adriana Nascimento; Claudia Pereira Bertolacini; Antonio Richieri-Costa
Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients.
American journal of medical genetics. Part A 2010;152A(7):1688-94.
2010: Gisele da Silva Dalben; Antonio Richieri-Costa; Luís Antônio de Assis Taveira
Craniofacial morphology in patients with velocardiofacial syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2010;47(3):241-6.
2010: Dionisia Aparecida Cusin Lamonica; Luciana P Maximino; Dagma V M Abramides; Deise H Souza; Antonio Richieri-Costa
Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers.
Clinical dysmorphology 2010;19(2):76-8.
2010: Claudia Danielli Pereira Bertolacini; Antonio Richieri-Costa; Lucilene Arilho Ribeiro-Bicudo
Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.
Brain & development 2010;32(3):217-22.
2010: Antonio Richieri-Costa; Lucilene Arilho Ribeiro
Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):149-57.
2009: Antonio Richieri-Costa; Maria Leine Guion-Almeida
Nonsyndromic alar clefts: report of five Brazilian patients.
American journal of medical genetics. Part A 2009;149A(12):2765-7.
2009: Maria Leine Guion-Almeida; Antonio Richieri-Costa
Severe midline craniofacial anomalies: overlap with Pai syndrome.
Clinical dysmorphology 2009;18(3):154-7.
2009: Fernanda Sarquis Jehee; Beatriz A Burin; Kátia M Rocha; Roseli Zechi-Ceide; Daniela F Bueno; Luciano Brito; Josiane Souza; Gabriela Ferraz Leal; Antonio Richieri-Costa; Nivaldo Alonso; Paulo A Otto; Maria Rita Passos-Bueno
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?
American journal of medical genetics. Part A 2009;149A(6):1319-22.
2009: Roseli Maria Zechi-Ceide; Lucilene Arilho Ribeiro; Salmo Raskin; Claudia Danielli Pereira Bertolacini; Maria Leine Guion-Almeida; Antonio Richieri-Costa
Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes.
American journal of medical genetics. Part A 2009;149A(6):1277-9.
2009: Maria Leine Guion-Almeida; Antonio Richieri-Costa
Frontonasal dysplasia, severe neuropsychological delay, and midline central nervous system anomalies: report of 10 Brazilian male patients.
American journal of medical genetics. Part A 2009;149A(5):1006-11.
2009: Renata L L Ferreira de Lima; Sarah A Hoper; Michella Ghassibe; Margaret E Cooper; Nicholas K Rorick; Shinji Kondo; Lori Katz; Mary L Marazita; John Compton; Sherri Bale; Ute Hehr; Michael J Dixon; Sandra Daack-Hirsch; Odile Boute; Bénédicte Bayet; Nicole Revencu; Christine Verellen-Dumoulin; Miikka Vikkula; Antonio Richieri-Costa; Danilo Moretti-Ferreira; Jeffrey C Murray; Brian C Schutte
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(4):241-7.
2008: Gisele da Silva Dalben; Antonio Richieri-Costa; L A de Assis Taveira
Tooth abnormalities and soft tissue alterations in patients with G/BBB syndrome.
Oral diseases 2008;14(8):747-53.
2008: Antonio Richieri-Costa
[Aging and human communication].
Pró-fono : revista de atualização científica 2008;20(4):215-6.
2008: Nancy Mizue Kokitsu-Nakata; Maria Leine Guion-Almeida; Antonio Richieri-Costa
22q11 deletion syndrome and limb anomalies: report on two Brazilian patients.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2008;45(5):561-6.
2008: Daniel Rocha de Carvalho; Natalia Freitas Rossi; Silvana Schellini; Danilo Moretti-Ferreira; Antonio Richieri-Costa
Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient.
American journal of medical genetics. Part A 2008;146A(16):2134-7.
2008: Gisele da Silva Dalben; Antonio Richieri-Costa; Luís Antônio de Assis Taveira
Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome.
Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics 2008;106(2):e46-51.
2008: Roseli Maria Zechi-Ceide; Nélio Alessando Jesus Oliveira; Maria Leine Guion-Almeida; Luís Fernando B B Antunes; Antonio Richieri-Costa; Maria Rita Passos-Bueno
Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene.
Clinical dysmorphology 2008;17(3):225-6.
2008: Célia M Giacheti; Antonio Richieri-Costa
Reply to Hunter's letter on the "misuse of the descriptor "Marfanoid"".
American journal of medical genetics. Part A 2008;146A(13):1772.
2008: Roseli Maria Zechi-Ceide; Nélio Alessando Jesus Oliveira; Maria Leine Guion-Almeida; Luís Fernando B B Antunes; Antonio Richieri-Costa; Maria Rita Passos-Bueno
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.
European journal of medical genetics 2008;51(3):183-96.
2008: Antonio Richieri-Costa; Roseli Maria Zechi-Ceide; Maria Leine Guion-Almeida
Oral teratoma, dextrocardia, and congenital heart defect: a nonrandom association or serendipity?
Clinical dysmorphology 2008;17(2):149-50.
2008: Antonio Richieri-Costa; Lucilene Arilho Ribeiro
Variable phenotypic manifestations of a K44N mutation in the TGIF gene.
Brain & development 2008;30(3):203-5.
2008: Maria Leine Guion-Almeida; Antonio Richieri-Costa; Roseli Maria Zechi-Ceide
Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder.
Clinical dysmorphology 2008;17(1):41-6.
2007: Maria Leine Guion-Almeida; Roseli Maria Zechi-Ceide; Antonio Richieri-Costa
Cerebro-oculo-nasal syndrome: 13 new Brazilian cases.
American journal of medical genetics. Part A 2007;143A(24):3252-66.
2007: Célia M Giacheti; Sthella Zanchetta; Elizandra Maranhe; Tatiana V Cassab; Dagma Venturini Marques Abramides; Deise H Souza; Luciana Paula Maximino De-Vitto; Antonio Richieri-Costa
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.
American journal of medical genetics. Part A 2007;143A(24):3137-9.
2007: Roseli Maria Zechi-Ceide; Maria Leine Guion-Almeida; Sthella Zanchetta; Antonio Richieri-Costa
Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union.
American journal of medical genetics. Part A 2007;143A(24):3295-301.
2007: Maria Leine Guion-Almeida; Cecília Mellado; Constanza Beltrán; Antonio Richieri-Costa
Pai syndrome: report of seven South American patients.
American journal of medical genetics. Part A 2007;143A(24):3273-9.
2007: Paula Sandrin-Garcia; Dagma Venturini Marques Abramides; Lúcia Martelli; Ester Silveira Ramos; Antonio Richieri-Costa; Geraldo A S Passos
Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2.
Molecular and cellular biochemistry 2007;303(1-2):9-17.
2007: Maria Leine Guion-Almeida; Siulan Vendramini-Pittoli; Antonio Richieri-Costa
Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients.
Clinical ophthalmology (Auckland, N.Z.) 2007;1(2):183-7.
2007: Siulan Vendramini; Antonio Richieri-Costa; Maria Leine Guion-Almeida
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.
European journal of human genetics : EJHG 2007;15(4):411-21.
2007: Juliana Forte Mazzeu; Eliete Pardono; Angela M Vianna-Morgante; Antonio Richieri-Costa; Chong Ae Kim; Decio Brunoni; Lúcia Martelli; Carlos Eugênio F de Andrade; Guilherme Colin; Paulo A Otto
Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.
American journal of medical genetics. Part A 2007;143(4):320-5.
2006: Fedik Rahimov; Lucilene Arilho Ribeiro; Eziquiel de Miranda; Antonio Richieri-Costa; Jeffrey C Murray
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
American journal of medical genetics. Part A 2006;140(23):2571-6.
2006: Antonio Richieri-Costa; Lucilene Arilho Ribeiro
Single maxillary central incisor, holoprosencephaly, and holoprosencephaly-like phenotype.
American journal of medical genetics. Part A 2006;140(23):2594-7.
2006: Antonio Richieri-Costa; Lucilene Arilho Ribeiro
Holoprosencephaly-like phenotype: clinical and genetic perspectives.
American journal of medical genetics. Part A 2006;140(23):2587-93.
2006: Lucilene Arilho Ribeiro; Jeffrey C Murray; Antonio Richieri-Costa
PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.
American journal of medical genetics. Part A 2006;140(23):2584-6.
2006: Lucilene Arilho Ribeiro; Kenia B El-Jaick; Maximilian Muenke; Antonio Richieri-Costa
SIX3 mutations with holoprosencephaly.
American journal of medical genetics. Part A 2006;140(23):2577-83.
2006: Maria Leine Guion-Almeida; Antonio Richieri-Costa
Frontonasal malformation, first branchial arch anomalies, congenital heart defect, and severe central nervous system involvement: a possible "new" autosomal recessive syndrome?
American journal of medical genetics. Part A 2006;140(22):2478-81.
2006: Giselda Santiago; Dagma Venturini Marques Abramides; Luciana Paula Maximino De-Vitto; Lucilene Arilho Ribeiro; Silvio Garcia Meira; Antonio Richieri-Costa
Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype.
American journal of medical genetics. Part A 2006;140(19):2085-90.
2006: Melissa Z Antoneli; Sthella Zanchetta; Neivo L Zorzetto; Lucilene Arilho Ribeiro; Antonio Richieri-Costa
Holoprosencephaly: clinical evaluation on audiological and brainstem electrophysiological profiles.
American journal of medical genetics. Part A 2006;140(19):2142-5.
2006: Antonio Richieri-Costa; Lucilene Arilho Ribeiro
Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum?
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2006;43(4):429-34.
2005: Carlos Castro; Patrícia Z Freitas; Melissa Z Antoneli; Giselda Santiago; Lucilene Arilho Ribeiro; Antonio Richieri-Costa
Periventricular neuronal heterotopia, oro-facio-digital anomalies, and microphthalmia. A new syndrome?
Clinical dysmorphology 2005;14(4):197-201.
2005: Antonio Richieri-Costa; C M Giacheti; Dagma Venturini Marques Abramides; Mariza Ribeiro Feniman; C G R Baldelin
Arachnoidal cyst, orofacial dysplasia, poor motor control, and severe language delay.
American journal of medical genetics. Part A 2005;137(1):110-1.
2005: Dania Guerra; Otto Sanchez; Antonio Richieri-Costa
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures.
American journal of medical genetics. Part A 2005;136A(4):377-80.
2005: Lucilene Arilho Ribeiro; Rita de Cássia M Guerini; Antonio Richieri-Costa
Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects.
American journal of medical genetics. Part A 2005;136A(4):350-1.
2005: Lucilene Arilho Ribeiro; Antonio Richieri-Costa
Single median maxillary central incisor, hypophyseal tumor, and SHH mutation.
American journal of medical genetics. Part A 2005;136A(4):346-7.
2005: Antonio Richieri-Costa; Lucilene Arilho Ribeiro
Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: new case and imaging review of previous cases.
American journal of medical genetics. Part A 2005;136A(4):352-3.
2005: Lucilene Arilho Ribeiro; Antonio Richieri-Costa
Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutation.
American journal of medical genetics. Part A 2005;136A(4):348-9.
2005: Luciana Paula Maximino Devitto; Dagma Venturini Marques Abramides; Antonio Richieri-Costa
Newly recognized overgrowth syndrome with macrosomia, macrocrania, hyperostosis of the cranial vault, mental deficiency, seizures, poor motor control, and orofacial dyspraxia.
American journal of medical genetics. Part A 2005;136(2):219-20.
2005: Luciana de Paula Maximino De Vitto; Dagma Venturini Marques Abramides; Carolina Ferreira Campos; Mariana Sodário Cruz; Mariza Ribeiro Feniman; Antonio Richieri-Costa
[Macrosomia and auditory abilities: a comparative study].
Pró-fono : revista de atualização científica 2005;17(2):223-32.
2004: Nancy Mizue Kokitsu-Nakata; Maria Leine Guion-Almeida; Antonio Richieri-Costa
Clinical genetic study of 144 patients with nonsyndromic hearing loss.
American journal of audiology 2004;13(2):99-103.
2004: Agnes L Nishimura; Miguel Mitne-Neto; Helga C A Silva; Antonio Richieri-Costa; Susan Middleton; Duilio Cascio; Fernando Kok; João R M Oliveira; Tom Gillingwater; Jeanette Webb; Paul Skehel; Mayana Zatz
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.
American journal of human genetics 2004;75(5):822-31.
2004: Maria Leine Guion-Almeida; Ligiane Alves Machado-Paula; Antonio Richieri-Costa
Newly recognized syndrome with heminasal aplasia and ocular anomalies or wider spectrum of heminasal aplasia/atypical clefting syndrome?
American journal of medical genetics. Part A 2004;129A(2):156-61.
2004: Maria Rita Passos-Bueno; Dinamar A Gaspar; Tânia Kamiya; Graziela Tescarollo; Daniel Rabanéa; Antonio Richieri-Costa; Nivaldo Alonso; Belmino C Araújo
Transforming growth factor-alpha and nonsyndromic cleft lip with or without palate in Brazilian patients: results of a large case-control study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2004;41(4):387-91.
2004: Ana Carolina B Marçano; Kit Doudney; Claire Braybrook; R Squires; Michael A Patton; M M Lees; Antonio Richieri-Costa; Andrew C Lidral; Jeffrey C Murray; Gudrun E Moore; Philip Stanier
TBX22 mutations are a frequent cause of cleft palate.
Journal of medical genetics 2004;41(1):68-74.
2003: R L L Ferreira de Lima; Danilo Moretti-Ferreira; Antonio Richieri-Costa; Jeffrey C Murray
Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome.
American journal of medical genetics. Part A 2003;122A(1):56-8.
2003: Maria Leine Guion-Almeida; Antonio Richieri-Costa
Acrofrontofacionasal dysostosis: report of the third Brazilian family.
American journal of medical genetics. Part A 2003;119A(2):238-41.
2003: Eliete Pardono; Yolande van Bever; Jenneke van den Ende; Poti C Havrenne; Paula Iughetti; Sylvia R P Maestrelli; Orozimbo Costa F; Antonio Richieri-Costa; Oswaldo Frota-Pessoa; Paulo A Otto
Waardenburg syndrome: clinical differentiation between types I and II.
American journal of medical genetics. Part A 2003;117A(3):223-35.
2002: Shinji Kondo; Brian C Schutte; Rebecca J Richardson; Bryan Bjork; Alexandra S Knight; Yoriko Watanabe; Emma Howard; Renata L L Ferreira de Lima; Sandra Daack-Hirsch; Achim Sander; Donna M McDonald-McGinn; Elaine H Zackai; Edward J Lammer; Arthur S Aylsworth; Holly H Ardinger; Andrew C Lidral; Barbara R Pober; Lina Moreno; Mauricio Arcos-Burgos; Consuelo Valencia; Claude Houdayer; Michel Bahuau; Danilo Moretti-Ferreira; Antonio Richieri-Costa; Michael J Dixon; Jeffrey C Murray
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Nature genetics 2002;32(2):285-9.
2002: Paula Sandrin-Garcia; C Macedo; Lúcia Martelli; Ester Silveira Ramos; Maria Leine Guion-Almeida; Antonio Richieri-Costa; Geraldo A S Passos
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome.
Clinical genetics 2002;61(5):380-3.
2002: Roseli Maria Zechi-Ceide; Maria Leine Guion-Almeida; Antonio Richieri-Costa
Guadalajara camptodactyly syndrome type I: report on a new case.
Clinical dysmorphology 2002;11(2):129-32.
2001: Maria Leine Guion-Almeida; Antonio Richieri-Costa
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype.
Clinical dysmorphology 2001;10(2):81-6.
2000: Sthella Zanchetta; K Ohara; P T Rodrigues; E L Carvalho; Antonio Richieri-Costa
"New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family.
American journal of medical genetics 2000;95(1):13-6.
2000: Maria Leine Guion-Almeida; Antonio Richieri-Costa
Amniotic band sequence versus the autosomal recessive microcephaly, facial clefting, and preaxial polydactyly syndrome.
Clinical dysmorphology 2000;9(4):297-9.
2000: Maria Leine Guion-Almeida; Roseli Maria Zechi-Ceide; Antonio Richieri-Costa
Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome.
Clinical dysmorphology 2000;9(4):269-72.
2000: Maria Leine Guion-Almeida; Nancy Mizue Kokitsu-Nakata; Antonio Richieri-Costa
Clinical variability in cerebro-oculo-nasal syndrome: report on two additional cases.
Clinical dysmorphology 2000;9(4):253-7.
1999: Maria Leine Guion-Almeida; Antonio Richieri-Costa
New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients.
American journal of medical genetics 1999;87(3):237-44.
1999: Maria Leine Guion-Almeida; Roseli Maria Zechi-Ceide; Antonio Richieri-Costa
Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients.
American journal of medical genetics 1999;87(1):72-7.
1999: Maria Leine Guion-Almeida; Antonio Richieri-Costa
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?
Clinical dysmorphology 1999;8(1):1-4.
1998: Maria Rita Passos-Bueno; Antonio Richieri-Costa; Andréa L Sertié; A Kneppers
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
Journal of medical genetics 1998;35(8):677-9.
1998: Maria Rita Passos-Bueno; Andréa L Sertié; Antonio Richieri-Costa; Luis Alonso; Mayana Zatz; Nivaldo Alonso; Decio Brunoni; S F Ribeiro
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
American journal of medical genetics 1998;78(3):237-41.
1997: Maria Rita Passos-Bueno; Andréa L Sertié; Mayana Zatz; Antonio Richieri-Costa
Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?
American journal of medical genetics 1997;71(2):243-5.
1997: Luciana Paula Maximino De-Vitto; O A Costa; M C Bevilaqua; S Passerotti; Antonio Richieri-Costa
New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: report on two Brazilian patients.
American journal of medical genetics 1997;70(3):247-9.
1996: Maria Leine Guion-Almeida; Antonio Richieri-Costa; D Saavedra; M Michael Cohen
Frontonasal dysplasia: analysis of 21 cases and literature review.
International journal of oral and maxillofacial surgery 1996;25(2):91-7.
1996: Maria Leine Guion-Almeida; Antonio Richieri-Costa; D Saavedra; M Michael Cohen
Cerebrofaciothoracic syndrome.
American journal of medical genetics 1996;61(2):152-3.
1996: D Saavedra; Antonio Richieri-Costa; Maria Leine Guion-Almeida; M Michael Cohen
Craniofrontonasal syndrome: study of 41 patients.
American journal of medical genetics 1996;61(2):147-51.
1996: Maria Leine Guion-Almeida; E S Rodini; S C Pereira; Antonio Richieri-Costa
Amniotic bands and the EEC syndrome.
Birth defects original article series 1996;30(1):171-7.
1995: M Michael Cohen; Antonio Richieri-Costa; Maria Leine Guion-Almeida; D Saavedra
Hypertelorism: interorbital growth, measurements, and pathogenetic considerations.
International journal of oral and maxillofacial surgery 1995;24(6):387-95.
1994: Antonio Richieri-Costa; R J Gorlin
Oblique facial clefts: report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity.
American journal of medical genetics 1994;53(3):222-6.
1994: Antonio Richieri-Costa; Maria Leine Guion-Almeida; J R Lauris; D M Ferreira
Newly recognized autosomal recessive faciothoracoskeletal syndrome.
American journal of medical genetics 1994;49(2):224-8.
1993: Antonio Richieri-Costa; S C Pereira
Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients.
American journal of medical genetics 1993;47(5):707-9.
1993: Antonio Richieri-Costa; Maria Leine Guion-Almeida
Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause.
American journal of medical genetics 1993;47(5):702-6.
1993: N M Nakata; Maria Leine Guion-Almeida; Antonio Richieri-Costa
Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity.
American journal of medical genetics 1993;47(3):330-2.
1993: Antonio Richieri-Costa; L Pirolo Júnior; M Michael Cohen
Carpenter syndrome with normal intelligence: Brazilian girl born to consanguineous parents.
American journal of medical genetics 1993;47(2):281-3.
1993: Antonio Richieri-Costa; Maria Leine Guion-Almeida; M M Cohen
Newly recognized autosomal recessive MCA/MR/overgrowth syndrome.
American journal of medical genetics 1993;47(2):278-80.
1993: Antonio Richieri-Costa; M A Bortolozo; J R Lauris; R C Lauris; Maria Leine Guion-Almeida; D Marques; D Moreti
Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance.
American journal of medical genetics 1993;46(6):659-64.
1993: Antonio Richieri-Costa; Maria Leine Guion-Almeida; E S Rodini; S C Pereira; M Michael Cohen
Newly recognized blepharofacioskeletal syndrome.
American journal of medical genetics 1993;46(6):620-2.
1993: Antonio Richieri-Costa; U Frederigue Júnior; Maria Leine Guion-Almeida
Holoprosencephaly, hamartomatous growth of the cerebrum, dysplastic gangliocytoma of the cerebellum, unique brain anomalies, and renal agenesis in a Brazilian infant born to a diabetic mother: a clinical and pathologic study.
Birth defects original article series 1993;29(1):389-94.
1993: Antonio Richieri-Costa; Maria Leine Guion-Almeida
Heteropagus epignathus: report on a Brazilian twin.
Birth defects original article series 1993;29(1):383-7.
1993: Antonio Richieri-Costa; Maria Leine Guion-Almeida; U Frederigue Júnior
Conjoined twins: report of a Brazilian twin belonging to the category duplicatas incompleta, an atypical parasite twinning type.
Birth defects original article series 1993;29(1):273-7.
1992: A C Nardi; U Ferreira; N R Netto Júnior; L A Magna; E S Rodini; Antonio Richieri-Costa
Urinary tract involvement in EEC syndrome: a clinical study in 25 Brazilian patients.
American journal of medical genetics 1992;44(6):803-6.
1992: Antonio Richieri-Costa; Maria Leine Guion-Almeida; N A Pagnan
Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family.
American journal of medical genetics 1992;44(6):800-2.
1992: Y van Bever; J J van den Ende; Antonio Richieri-Costa
Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients.
American journal of medical genetics 1992;44(5):683-90.
1992: S C Pereira; C M Rocha; Maria Leine Guion-Almeida; Antonio Richieri-Costa
Postaxial acrofacial dysostosis: report on two patients.
American journal of medical genetics 1992;44(3):274-9.
1992: Antonio Richieri-Costa; Maria Leine Guion-Almeida; N Freire-Maia; M Pinheiro
Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family.
American journal of medical genetics 1992;44(2):158-62.
1992: Maria Leine Guion-Almeida; Antonio Richieri-Costa
Acrocallosal syndrome: report of a Brazilian girl.
American journal of medical genetics 1992;43(6):938-41.
1992: Maria Leine Guion-Almeida; Antonio Richieri-Costa
Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome.
American journal of medical genetics 1992;43(6):929-31.
1992: Maria Leine Guion-Almeida; Antonio Richieri-Costa
CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients.
American journal of medical genetics 1992;43(6):918-28.
1992: Maria Leine Guion-Almeida; Antonio Richieri-Costa
Aarskog syndrome in a Brazilian boy born to consanguineous parents.
American journal of medical genetics 1992;43(5):808-10.
1992: Antonio Richieri-Costa; Maria Leine Guion-Almeida; A L Ramos
Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies.
American journal of medical genetics 1992;43(3):565-8.
1992: Antonio Richieri-Costa; S C Pereira
Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome.
American journal of medical genetics 1992;42(5):681-7.
1992: J J van den Ende; Y van Bever; E S Rodini; Antonio Richieri-Costa
Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents.
American journal of medical genetics 1992;42(4):467-9.
1992: Antonio Richieri-Costa; Maria Leine Guion-Almeida
Short stature, mental retardation, eye anomalies, and cleft lip/palate.
American journal of medical genetics 1992;42(4):449-52.
1992: E S Rodini; Antonio Richieri-Costa
Autosomal recessive blepharoptosis, cleft lip/palate, dental anomalies, and ectrodactyly.
American journal of medical genetics 1992;42(3):340-2.
1992: E S Rodini; A Nardi; Maria Leine Guion-Almeida; Antonio Richieri-Costa
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome.
American journal of medical genetics 1992;42(3):276-80.
1991: Antonio Richieri-Costa; Maria Leine Guion-Almeida; J van den Ende
Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia.
American journal of medical genetics 1991;41(3):330-2.
1991: E S Rodini; J A Freitas; Antonio Richieri-Costa
Ectrodactyly, cleft lip/palate syndrome.
American journal of medical genetics 1991;38(4):539-41.
1991: Antonio Richieri-Costa
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family.
American journal of medical genetics 1991;38(1):9-12.
1990: E S Rodini; Antonio Richieri-Costa
EEC syndrome: report on 20 new patients, clinical and genetic considerations.
American journal of medical genetics 1990;37(1):42-53.
1990: E O Rodini; J A Freitas; Antonio Richieri-Costa
Rapp-Hodgkin syndrome: report of a Brazilian family.
American journal of medical genetics 1990;36(4):463-6.
1990: E S Rodini; Antonio Richieri-Costa
Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome.
American journal of medical genetics 1990;36(4):473-6.
1990: Antonio Richieri-Costa; E de Miranda; T Y Kamiya; Dertia Villalba Freire Maia
Autosomal dominant tibial hemimelia-polysyndactyly-triphalangeal thumbs syndrome: report of a Brazilian family.
American journal of medical genetics 1990;36(1):1-6.
1989: Antonio Richieri-Costa; Maria Leine Guion-Almeida
Atypical postaxial acrofacial dysostosis (AFD): diabetic embryopathy or a new AFD syndrome?
American journal of medical genetics 1989;33(4):450-2.
1989: Antonio Richieri-Costa; Maria Leine Guion-Almeida
Postaxial acrofacial dysostosis: report of a Brazilian patient.
American journal of medical genetics 1989;33(4):447-9.
1989: Antonio Richieri-Costa; L Montagnoli; T Y Kamiya
Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies.
American journal of medical genetics 1989;33(1):121-4.
1988: Antonio Richieri-Costa; E de Miranda
Short stature, abnormal ears, monodactylous tetraectrodactyly, cleft palate in a Brazilian boy.
American journal of medical genetics 1988;31(3):559-64.
1987: Antonio Richieri-Costa; Decio Brunoni; J Laredo Filho; S Kasinski
Tibial aplasia-ectrodactyly as variant expression of the Gollop-Wolfgang complex: report of a Brazilian family.
American journal of medical genetics 1987;28(4):971-80.
1987: Antonio Richieri-Costa
Tibial hemimelia-cleft lip/palate in a Brazilian child born to consanguineous parents.
American journal of medical genetics 1987;28(2):325-9.
1987: Antonio Richieri-Costa; I Ferrareto; D Masiero; C R da Silva
Tibial hemimelia: report on 37 new cases, clinical and genetic considerations.
American journal of medical genetics 1987;27(4):867-84.
1985: Antonio Richieri-Costa; G M Colletto; P A Otto
Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome?
American journal of medical genetics 1985;21(4):637-42.
1985: Antonio Richieri-Costa; G M Colletto; T R Gollop; D Masiero
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.
American journal of medical genetics 1985;20(4):631-8.
1983: A Grimaldi; D Masiero; Antonio Richieri-Costa; A Freire-Maia
Variable expressivity of the acheiropodia gene.
American journal of medical genetics 1983;16(4):631-4.
1983: Antonio Richieri-Costa; T R Gollop; P G Otto
Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities--type Waardenburg.
American journal of medical genetics 1983;14(4):607-15.
1983: Antonio Richieri-Costa; T R Gollop; G M Colletto
Brief clinical report: syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family.
American journal of medical genetics 1983;14(2):225-9.