Richieri Costa, Antonio: search on Z-Library

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

1

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

Year:

2007

Language:

english

File:

PDF, 159 KB

english, 2007

2

Craniofrontonasal syndrome: Study of 41 patients

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

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 542 KB

1996

3

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

Year:

2010

Language:

english

File:

PDF, 479 KB

english, 2010

4

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

Year:

1997

Language:

english

File:

PDF, 785 KB

english, 1997

5

FG syndrome update 1988: Note of 5 new patients and bibliography

John M. Opitz, Antonio Richieri-Da Costa, Jon M. Aase, Paul J. Benke

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 1.07 MB

english, 1988

6

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

Year:

1998

Language:

english

File:

PDF, 101 KB

english, 1998

7

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

Year:

2005

Language:

english

File:

PDF, 87 KB

english, 2005

8

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

Year:

2006

Language:

english

File:

PDF, 112 KB

english, 2006

9

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

Year:

2008

Language:

english

File:

PDF, 102 KB

english, 2008

10

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

Year:

2012

Language:

english

File:

PDF, 134 KB

english, 2012

11

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

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

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 264 KB

english, 2008

12

Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

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

Journal:

Molecular Syndromology

Year:

2015

Language:

english

File:

PDF, 360 KB

english, 2015

13

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

Year:

2010

Language:

english

File:

PDF, 341 KB

english, 2010

14

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

Year:

1999

Language:

english

File:

PDF, 357 KB

english, 1999

15

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

Camila Ive Ferreira Oliveira, Antonio Richieri-Costa, Valéria Cristina Carvalho Ferrarese, Denise Cristina Móz Vaz, Agnes Cristina Fett-Conte

Journal:

BMC Research Notes

Year:

2011

Language:

english

File:

PDF, 137 KB

english, 2011

16

High Dosage Folic Acid Supplementation, Oral Cleft Recurrence and Fetal Growth

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

Journal:

International Journal of Environmental Research and Public Health

Year:

2013

Language:

english

File:

PDF, 484 KB

english, 2013

17

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

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

Journal:

International Journal of Medical Sciences

Year:

2004

Language:

english

File:

PDF, 493 KB

english, 2004

18

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

Language:

english

File:

PDF, 232 KB

english, 2019

19

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:

Year:

2000

Language:

english

File:

PDF, 242 KB

english, 2000

20

Reply to Dr. Fried

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

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 49 KB

english, 1992

21

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

Year:

1999

Language:

english

File:

PDF, 450 KB

english, 1999

22

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

Year:

2006

Language:

english

File:

PDF, 147 KB

english, 2006

23

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

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

24

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

Year:

2011

Language:

english

File:

PDF, 1.10 MB

english, 2011

25

Macrostomia, Preauricular Tags, and External Ophthalmoplegia: A New Autosomal Dominant Syndrome Within the Oculoauriculovertebral Spectrum?

Richieri-Costa, Antonio, Ribeiro, Lucilene Arilho

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2006

Language:

english

File:

PDF, 562 KB

english, 2006

26

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

Lucilene A. Ribeiro, Erich Roessler, Ping Hu, Daniel E. Pineda-Alvarez, Nan Zhou, MaryPat Jones, Settara Chandrasekharappa, Antonio Richieri-Costa, Maximilian Muenke

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2012

Language:

english

File:

PDF, 738 KB

english, 2012

27

A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis

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

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 128 KB

english, 2011

28

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

Year:

2005

Language:

english

File:

PDF, 192 KB

english, 2005

29

SIX3 mutations with holoprosencephaly

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

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 392 KB

english, 2006

30

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

Lamonica, Dionisia Aparecida Cusin, Maximino, Luciana P., Abramides, Dagma V.M., Souza, Deise H., Richieri-Costa, Antonio

Journal:

Clinical Dysmorphology

Year:

2010

Language:

english

File:

PDF, 170 KB

english, 2010

31

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

Language:

english

File:

PDF, 763 KB

english, 2016

32

Hypoglossia-Hypodactyly Syndrome in a Brazilian Child

Zanini, Silvio A., Seara, Simone, Willhelm, Ricardo, Heitz, Claiton, Tershakowec, Mark, da Costa, Antonio Richieri

Journal:

Journal of Craniofacial Surgery

Year:

1992

File:

PDF, 139 KB

1992

33

Achados audiológicos e eletrofisiológicos de indivíduos com a síndrome G/BBB

Cassab, Tatiana Vialôgo, Zanchetta, Sthella, Giacheti, Célia Maria, Zorzetto, Neivo Luiz, Richieri-Costa, Antonio

Journal:

Brazilian Journal of Otorhinolaryngology

Year:

2011

Language:

english

File:

PDF, 379 KB

english, 2011

34

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

Year:

2007

Language:

english

File:

PDF, 505 KB

english, 2007

35

Craniofacial Morphology in Patients With Velocardiofacial Syndrome

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

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2010

Language:

english

File:

PDF, 164 KB

english, 2010

36

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

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

Journal:

Molecular Genetics and Genomics

Year:

2015

Language:

english

File:

PDF, 573 KB

english, 2015

37

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

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

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 100 KB

english, 2008

38

Mandibulofacial dysostosis Bauru type: Refining the phenotype

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

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 1.22 MB

english, 2017

39

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

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

Journal:

Journal of Craniofacial Surgery

Year:

2018

Language:

english

File:

PDF, 209 KB

english, 2018

40

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

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

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 710 KB

english, 2013

41

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

Pinto, Rayane de Oliveira, Peixoto, Adriano Porto, Pinto, Ary dos Santos, Richieri-Costa, Antonio, Raveli, Dirceu BarnabÃ©, Tonello, Cristiano, Dalben, Gisele da Silva

Journal:

Journal of Craniofacial Surgery

Year:

2020

File:

PDF, 186 KB

2020

42

An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft

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

Journal:

Clinical Dysmorphology

Year:

2015

Language:

english

File:

PDF, 285 KB

english, 2015

43

Severe midline craniofacial anomalies: overlap with Pai syndrome

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

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 254 KB

english, 2009

44

A elaboraçao de um ambiente virtual de aprendizagem em síndromes genéticas

Picolini, Mirela Machado, Blasca, Wanderléia Quinhoeiro, Richieri-Costa, Antonio, Maximino, Luciana Paula

Journal:

Year:

2013

Language:

english

File:

PDF, 832 KB

english, 2013

45

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

Nancy Mizue Kokitsu-Nakata, Siulan Vendramini Paulovich Pittoli, Antonio Richieri da Costa

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 111 KB

english, 2009

46

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

Year:

2012

Language:

english

File:

PDF, 119 KB

english, 2012

47

22q11 Deletion Syndrome and Limb Anomalies: Report on Two Brazilian Patients

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

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2008

Language:

english

File:

PDF, 1.12 MB

english, 2008

48

TRIGONOCEPHALY

Zanini, Silvio A., Neto, Eliseu Paglioli, Viterbo, Fausto, da Costa, Antonio Richieri, Tershakowec, M.

Journal:

Journal of Craniofacial Surgery

Year:

1992

File:

PDF, 389 KB

1992

49

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

Year:

2000

Language:

english

File:

PDF, 350 KB

english, 2000

50

Saethre-Chotzen Syndrome, Pro136His TWIST Mutation, Hearing Loss, and External and Middle Ear Structural Anomalies: Report on a Brazilian Family

Lamônica, Dionísia A. C., Maximino, Luciana P., Feniman, Mariza Ribeiro, Silva, Greyce K., Zanchetta, Sthella, Abramides, Dagma V. M., Passos-Bueno, Maria Rita, Rocha, Kátia, Richieri-Costa, Antonio

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2010

Language:

english

File:

PDF, 920 KB

english, 2010

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@1delivery.pm

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