Richieri Costa, Antonio: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

51

Clinical Genetic Study of 144 Patients With Nonsyndromic Hearing Loss

Kokitsu-Nakata, Nancy Mizue, Guion-Almeida, Maria Leine, Richieri-Costa, Antonio

Journal:

American Journal of Audiology

Year:

2004

Language:

english

File:

PDF, 154 KB

english, 2004

52

Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles

Antoneli, Melissa Zattoni, Giacheti, Célia Maria, Genaro, Kátia Flores, Zorzetto, Neivo Luiz, Richieri-Costa, Antonio

Journal:

Brazilian Journal of Otorhinolaryngology

Year:

2011

Language:

english

File:

PDF, 241 KB

english, 2011

53

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

Zechi-Ceide, Roseli Maria, Jesus Oliveira, Nélio Alessando, Guion-Almeida, Maria Leine, Antunes, Luís Fernando B.B., Richieri-Costa, Antonio, Passos-Bueno, Maria Rita Santos

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 103 KB

english, 2008

54

Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?

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

Journal:

Clinical Dysmorphology

Year:

1999

File:

PDF, 2.35 MB

1999

55

Cerebrofaciothoracic syndrome

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

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 217 KB

1996

56

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

Year:

2009

Language:

english

File:

PDF, 266 KB

english, 2009

57

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

Year:

2009

Language:

english

File:

PDF, 115 KB

english, 2009

58

Síndrome de Silver-Russell: relato de caso

Rossi, Natalia Freitas, Ueda, Kelly Hitomi, Richieri-Costa, Antonio, Giacheti, Célia Maria

Journal:

Year:

2006

File:

PDF, 256 KB

2006

59

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

Year:

2004

Language:

english

File:

PDF, 411 KB

english, 2004

60

Nonsyndromic alar clefts: Report of five Brazilian patients

Antonio Richieri-Costa, Maria Leine Guion-Almeida

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 85 KB

english, 2009

61

Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype

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

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 1.09 MB

english, 2001

62

Transforming Growth Factor-α and Nonsyndromic Cleft Lip With or Without Palate in Brazilian Patients: Results of a Large Case-Control Study

Passos-Bueno, Maria Rita, Gaspar, Dinamar A., Kamiya, Tânia, Tescarollo, Graziela, Rabanéa, Daniel, Richieri-Costa, Antonio, Alonso, Nivaldo, Araújo, Belmino

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2004

Language:

english

File:

PDF, 33 KB

english, 2004

63

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

Lucilene Arilho Ribeiro, Antonio Richieri-Costa

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 136 KB

english, 2005

64

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

Year:

2007

Language:

english

File:

PDF, 922 KB

english, 2007

65

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

Year:

2010

Language:

english

File:

PDF, 589 KB

english, 2010

66

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:

Year:

1978

Language:

english

File:

PDF, 426 KB

english, 1978

67

10.1038/78119

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

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 333 KB

english, 2000

68

Tooth abnormalities and soft tissue changes in patients with velocardiofacial syndrome

Gisele da Silva Dalben, Antonio Richieri-Costa, Luís Antônio de Assis Taveira

Journal:

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology

Year:

2008

Language:

english

File:

PDF, 357 KB

english, 2008

69

Fluorescence in situ hybridization (FISH) screening for the 22q11.2 deletion in patients with clinical features of velocardiofacial syndrome but without cardiac anomalies

Sandrin-Garcia, Paula, Richieri-Costa, Antonio, Tajara, Eloiza Helena, Carvalho-Salles, Andréa Borduchi, Fett-Conte, Agnes Cristina

Journal:

Genetics and Molecular Biology

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

70

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

Year:

2005

Language:

english

File:

PDF, 156 KB

english, 2005

71

Variable phenotypic manifestations of a K44N mutation in the TGIF gene

Antonio Richieri-Costa, Lucilene Arilho Ribeiro

Journal:

Brain and Development

Year:

2008

Language:

english

File:

PDF, 361 KB

english, 2008

72

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

Agnes L. Nishimura, Miguel Mitne-Neto, Helga C.A. Silva, Antônio Richieri-Costa, Susan Middleton, Duilio Cascio, Fernando Kok, João R.M. Oliveira, Tom Gillingwater, Jeanette Webb, Paul Skehel, Mayana

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 506 KB

english, 2004

73

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

Year:

2005

Language:

english

File:

PDF, 79 KB

english, 2005

74

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

Year:

2012

Language:

english

File:

PDF, 215 KB

english, 2012

75

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

Year:

2012

Language:

english

File:

PDF, 1.67 MB

english, 2012

76

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

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

Journal:

Journal of Cranio-Maxillofacial Surgery

Year:

2014

Language:

english

File:

PDF, 627 KB

english, 2014

77

Unique Alterations of an Ultraconserved Non-Coding Element in the 3′UTR of ZIC2 in Holoprosencephaly

Roessler, Erich, Hu, Ping, Hong, Sung-Kook, Srivastava, Kshitij, Carrington, Blake, Sood, Raman, Petrykowska, Hanna, Elnitski, Laura, Ribeiro, Lucilene A., Richieri-Costa, Antonio, Feldman, Benjamin,

Journal:

Year:

2012

Language:

english

File:

PDF, 363 KB

english, 2012

78

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

Year:

2007

Language:

english

File:

PDF, 95 KB

english, 2007

79

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

Year:

2009

Language:

english

File:

PDF, 134 KB

english, 2009

80

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

Year:

2005

Language:

english

File:

PDF, 83 KB

english, 2005

81

Hypertelorism: interorbital growth, measurements, and pathogenetic considerations

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

Journal:

International Journal of Oral & Maxillofacial Surgery

Year:

1995

Language:

english

File:

PDF, 1.62 MB

english, 1995

82

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

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

Journal:

Molecular Syndromology

Year:

2016

Language:

english

File:

PDF, 200 KB

english, 2016

83

“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

Year:

2000

Language:

english

File:

PDF, 269 KB

english, 2000

84

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

Year:

2007

Language:

english

File:

PDF, 407 KB

english, 2007

85

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

Castro, Carlos H.B.C., Freitas, Patr??cia Z., Antoneli, Melissa Z., Santiago, Giselda, Ribeiro, Lucilene A., Richieri-Costa, Antonio

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 314 KB

english, 2005

86

Aspectos da fluência em tarefa de narrativa oral na síndrome del22q11.2

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

Journal:

Year:

2016

File:

PDF, 833 KB

2016

87

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

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

Journal:

Child Neuropsychology

Year:

2020

File:

PDF, 1.31 MB

2020

88

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

Year:

2010

Language:

english

File:

PDF, 176 KB

english, 2010

89

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

Year:

2008

Language:

english

File:

PDF, 27 KB

english, 2008

90

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

Year:

1992

Language:

english

File:

PDF, 474 KB

english, 1992

91

Frontonasal dysplasia: analysis of 21 cases and literature review

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

Journal:

International Journal of Oral & Maxillofacial Surgery

Year:

1996

Language:

english

File:

PDF, 2.62 MB

english, 1996

92

Linguagem, comportamento e neurodesenvolvimento na Síndrome de Joubert: relato de caso

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

Journal:

Year:

2016

File:

PDF, 846 KB

2016

93

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

Year:

2006

Language:

english

File:

PDF, 70 KB

english, 2006

94

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

Year:

2003

Language:

english

File:

PDF, 251 KB

english, 2003

95

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

Year:

2007

Language:

english

File:

PDF, 221 KB

english, 2007

96

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

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

Journal:

Human Molecular Genetics

Year:

2016

File:

PDF, 763 KB

2016

97

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

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

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 369 KB

english, 2008

98

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

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

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

99

Desordens do espectro alcoólico fetal e habilidades de comunicação: relato de caso familiar

Lamônica, Dionísia Aparecida Cusin, Gejão, Mariana Germano, Aguiar, Sushila Ninfa Rodrigues, Silva, Greyce Kelly da, Lopes, Andréa Cintra, Richieri-Costa, Antônio

Journal:

Revista da Sociedade Brasileira de Fonoaudiologia

Year:

2010

File:

PDF, 139 KB

2010

100

Craniofacial Morphology in Patients With Opitz G/BBB Syndrome

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

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2019

File:

PDF, 232 KB

2019

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски