Antônio Richieri-Costa : rechercher sur Z-Library

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1

Craniofrontonasal syndrome: Study of 41 patients

Saavedra, Dolores, Richieri-Costa, Antonio, Guion-Almeida, Maria Leine, Cohen, M. Michael

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 542 KB

1996

2

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

Célia M. Giacheti, Sthella Zanchetta, Elizandra Maranhe, Tatiana V. Cassab, Dagma V. Abramides, Deise H. Souza, Luciana P.M. De-Vitto, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 159 KB

english, 2007

3

Pfeiffer mutation in an apert patient: How wide is the spectrum of variability due to mutations in the FGFR2 gene?

Passos-Bueno, Maria Rita, Sertié, Andréa L., Zatz, Mayana, Richieri-Costa, Antonio

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 785 KB

english, 1997

4

Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses

Maria Rita Passos-Bueno, Andréa L. Sertié, Antonio Richieri-Costa, Luís G. Alonso, Mayana Zatz, Nivaldo Alonso, Décio Brunoni, Sandra F.M. Ribeiro

Journal:

American Journal of Medical Genetics Part A

Année:

1998

Langue:

english

Fichier:

PDF, 101 KB

english, 1998

5

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

Luciana Paula Maximino DeVitto, Dagma Venturni Marques Abramides, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 87 KB

english, 2005

6

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

Giselda Santiago, Dagma Venturini Marques Abramides, Luciana Paula Maximino De-Vitto, Lucilene Arilho Ribeiro, Silvio Garcia Meira Jr, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 112 KB

english, 2006

7

Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case

Aline L. Petrin, Célia M. Giacheti, Luciana P. Maximino, Dagma V. M. Abramides, Sthella Zanchetta, Natalia F. Rossi, Antônio Richieri-Costa, Jeffrey C. Murray

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 479 KB

english, 2010

8

Cerebrofaciothoracic syndrome

Guion-Almeida, Maria Leine, Richieri-Costa, Antonio, Saavedra, Dolores, Cohen, M. Michael

Journal:

American Journal of Medical Genetics

Année:

1996

Fichier:

PDF, 217 KB

1996

9

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

Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Richieri-Costa, Antonio

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 450 KB

english, 1999

10

“New” autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: Report on a Brazilian family.

Sthella Zanchetta, Kouzaburo Ohara, Patricia T. Rodrigues, Ester L.L. Carvalho, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2000

Langue:

english

Fichier:

PDF, 269 KB

english, 2000

11

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

Alessandra Splendore, Elias O. Silva, Luís G. Alonso, Antônio Richieri-Costa, Nivaldo Alonso, Alberto Rosa, Gerson Carakushanky, Denise P. Cavalcanti, Décio Brunoni, Maria Rita Passos-Bueno

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 242 KB

english, 2000

12

Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: Report of a Brazilian family

Antonio Richieri-Costa, Maria Leine Guion-Almeida, Dr. Newton Freire-Maia, Marta Pinheiro

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 474 KB

english, 1992

13

Reply to Dr. Fried

Elaine S. O. Rodini, Dr. Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 49 KB

english, 1992

14

Waardenburg syndrome: Clinical differentiation between types I and II

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

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 251 KB

english, 2003

15

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

Maria Leine Guion-Almeida, Ligiane Alves Machado-Paula, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 411 KB

english, 2004

16

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

Antonio Richieri-Costa, Lucilene Arilho Ribeiro

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 83 KB

english, 2005

17

Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defects

Lucilene Arilho Ribeiro, Rita de Cássia M. Guerini, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 79 KB

english, 2005

18

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

Lucilene Arilho Ribeiro, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 156 KB

english, 2005

19

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

Lucilene Arilho Ribeiro, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 136 KB

english, 2005

20

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

Dania Guerra, Otto Sanchez, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 192 KB

english, 2005

21

Holoprosencephaly: Clinical evaluation on audiological and brainstem electrophysiological profiles

Melissa Z. Antoneli, Sthella Zanchetta, Neivo L. Zorzetto, Lucilene A. Ribeiro, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 147 KB

english, 2006

22

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

Fedik Rahimov, Lucilene Arilho Ribeiro, Eziquiel de Miranda, Antonio Richieri-Costa, Jeffrey C. Murray

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 412 KB

english, 2006

23

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

Lucilene Arilho Ribeiro, Jeffrey C. Murray, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 70 KB

english, 2006

24

SIX3 mutations with holoprosencephaly

Lucilene Arilho Ribeiro, Kenia B. El-Jaick, Maximilian Muenke, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 392 KB

english, 2006

25

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

Juliana Forte Mazzeu, Eliete Pardono, Angela M. Vianna-Morgante, Antônio Richieri-Costa, Chong Ae Kim, Décio Brunoni, Lúcia Martelli, Carlos Eugênio F. de Andrade, Guilherme Colin, Paulo A. Otto

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 95 KB

english, 2007

26

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

Roseli Maria Zechi-Ceide, Maria Leine Guion-Almeida, Sthella Zanchetta, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 407 KB

english, 2007

27

Cerebro-oculo-nasal syndrome: 13 new Brazilian cases

Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 922 KB

english, 2007

28

Reply to Hunter's letter on the “misuse of the descriptor “Marfanoid””

Célia M. Giacheti, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 27 KB

english, 2008

29

Schilbach–Rott/blepharofacioskeletal syndrome in a Brazilian patient

Daniel Rocha de Carvalho, Natalia Freitas Rossi, Silvana Schellini, Danilo Moretti-Ferreira, Antônio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 102 KB

english, 2008

30

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

Maria Leine Guion-Almeida, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 266 KB

english, 2009

31

Nonsyndromic alar clefts: Report of five Brazilian patients

Antonio Richieri-Costa, Maria Leine Guion-Almeida

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 85 KB

english, 2009

32

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

Roseli Maria Zechi-Ceide, Lucilene Arilho Ribeiro, Salmo Raskin, Claudia Danielli Pereira Bertolacini, Maria Leine Guion-Almeida, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 115 KB

english, 2009

33

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

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. Ott

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 134 KB

english, 2009

34

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

Antonio Richieri-Costa, Dagma V.M. Abramides, Luciana P. Maximino, Celia M. Giacheti, Dionisia A.C. Lamonica

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 45 KB

english, 2010

35

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

Lucilene Arilho Ribeiro, Rodrigo Gonçalves Quiezi, Adriana Nascimento, Claudia Pereira Bertolacini, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 341 KB

english, 2010

36

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

Maria Leine Guion-Almeida, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 176 KB

english, 2010

37

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

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

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2011

38

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

Antonio Richieri-Costa, Lucilene Arilho Ribeiro

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 589 KB

english, 2010

39

Partial monosomy 13 and 21 due to a familial 13/21 translocation

Priscila Guimarães Otto, Sergio Toledo, Antonio Richieri-Costa, Paulo Alberto Otto, Angela M. Vianna-Morgante, Sanae Kasahara

Journal:

Année:

1978

Langue:

english

Fichier:

PDF, 426 KB

english, 1978

40

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

Paula Sandrin-Garcia, Dagma V. M. Abramides, Lúcia R. Martelli, Ester S. Ramos, Antônio Richieri-Costa, Geraldo A. S. Passos

Journal:

Molecular and Cellular Biochemistry

Année:

2007

Langue:

english

Fichier:

PDF, 221 KB

english, 2007

41

10.1038/76074

Muenke, Maximilian, Gripp, Karen W., Wotton, David, Edwards, Michael C., Roessler, Erich, Ades, Lesley, Meinecke, Peter, Richieri-Costa, Antonio, Zackai, Elaine H., Massagué, Joan, Elledge, Stephen J.

Journal:

Nature Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 350 KB

english, 2000

42

10.1038/78119

Spritz, Richard A., Suzuki, Koji, Hu, Diane, Bustos, Tania, Zlotogora, Joel, Richieri-Costa, Antonio, Helms, Jill A.

Journal:

Nature Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 333 KB

english, 2000

43

10.1038/9718

Muenke, Maximilian, Wallis, Deeann E., Roessler, Erich, Hehr, Ute, Nanni, Luisa, Wiltshire, Tim, Richieri-Costa, Antonio, Gillessen-Kaesbach, Gabriele, Zackai, Elaine H., Rommens, Johanna

Journal:

Nature Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 357 KB

english, 1999

44

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

Vendramini, Siulan, Richieri-Costa, Antonio, Guion-Almeida, Maria Leine

Journal:

European Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 505 KB

english, 2007

45

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

Lucilene Arilho Ribeiro-Bicudo, Rodrigo G. Quiezi, Maria Leine Guion-Almeida, Chiara Legnaro, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 119 KB

english, 2012

46

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

Maria Leine Guion-Almeida, Antonio Richieri-Costa, Fernanda Sarquis Jehee, Maria Rita Santos Passos-Bueno, Roseli Maria Zechi-Ceide

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 134 KB

english, 2012

47

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

Nancy Mizue Kokitsu-Nakata, Aline Lourenço Petrin, Jason Paul Heard, Siulan Vendramini-Pittoli, Laura E Henkle, Daniela Vera Cruz dos Santos, Jeffrey Clark Murray, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 215 KB

english, 2012

48

Variable phenotypic manifestations of a K44N mutation in the TGIF gene

Antonio Richieri-Costa, Lucilene Arilho Ribeiro

Journal:

Brain and Development

Année:

2008

Langue:

english

Fichier:

PDF, 361 KB

english, 2008

49

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

Claudia Danielli Pereira Bertolacini, Antonio Richieri-Costa, Lucilene Arilho Ribeiro-Bicudo

Journal:

Brain and Development

Année:

2010

Langue:

english

Fichier:

PDF, 267 KB

english, 2010

50

Dental anomalies in Richieri-Costa-Pereira syndrome

Janete Mary Baaclini Galante Severini, Gisele da Silva Dalben, Antonio Richieri-Costa, Terumi Okada Ozawa

Journal:

Oral Surgery Oral Medicine Oral Pathology and Oral Radiology

Année:

2012

Langue:

english

Fichier:

PDF, 1.67 MB

english, 2012