檢索結果 - Roseli Maria Zechi‐Ceide

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  1. 1
    Say syndrome: A new Brazilian case

    Say syndrome: A new Brazilian case 由 M. L. Guion‐Almeida, Nancy Mizue Kokitsu‐Nakata, Roseli Maria Zechi‐Ceide

    出版 1998
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  2. 2
    Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

    Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings 由 Siulan Vendramini‐Pittoli, Nancy Mizue Kokitsu‐Nakata, Roseli Maria Zechi‐Ceide, Camila Wenceslau Alvarez, Lucilene Arilho Ribeiro, Antônio Richieri‐Costa

    出版 2016
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  3. 3
    Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

    Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 由 Roseli Maria Zechi‐Ceide, Melina Guerreiro Rodrigues, Fernanda Sarquis Jehee, Nancy Mizue Kokitsu‐Nakata, Maria Rita Passos‐Bueno, Maria Leine Guion‐Almeida

    出版 2012
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  4. 4
    Auriculo‐condylar syndrome. Confronting a diagnostic challenge

    Auriculo‐condylar syndrome. Confronting a diagnostic challenge 由 Nancy Mizue Kokitsu‐Nakata, Roseli Maria Zechi‐Ceide, Siulan Vendramini‐Pittoli, Vanessa Luiza Romanelli Tavares, Maria Rita Passos‐Bueno, Maria Leine Guion‐Almeida

    出版 2011
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  5. 5
    Richieri‐Costa–Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases

    Richieri‐Costa–Pereira syndrome: A unique acrofacial dysostosis type. An overview of the Brazilian cases 由 Francine Pinheiro Favaro, Roseli Maria Zechi‐Ceide, Camila Wenceslau Alvarez, Luciana Paula Maximino, Luís Fernando Benedito Bérgamo Antunes, Antônio Richieri‐Costa, Maria Leine Guion‐Almeida

    出版 2010
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  6. 6
    Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

    Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability 由 Bruno Faulin Gamba, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Siulan Vendramini‐Pittoli, Carla Rosenberg, Ana C.V. Krepischi Santos, Lucilene Arilho Ribeiro, Antônio Richieri‐Costa

    出版 2016
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  7. 7
    Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

    Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity 由 Cibele Masotti, Karina Griesi Oliveira, Tudor C. Poerner, Alessandra Splendore, Josiane Souza, Renato da Silva Freitas, Roseli Maria Zechi‐Ceide, Maria Leine Guion‐Almeida, Maria Rita Passos‐Bueno

    出版 2007
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  8. 8
    Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

    Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2 由 Siulan Vendramini‐Pittoli, Rosana Maria Candido‐Souza, Rodrigo Gonçalves Quiezi, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Fernanda Sarquis Jehee, Lucilene Arilho Ribeiro, David Fitzpatrick, Maria Leine Guion‐Almeida, Antônio Richieri‐Costa

    出版 2020
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  9. 9
    Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

    Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome 由 Christopher T. Gordon, Christopher Cunniff, Glenn E. Green, Roseli Maria Zechi‐Ceide, Jason M. Johnson, Alex Henderson, Florence Petit, Nancy Mizue Kokitsu‐Nakata, Maria Leine Guion‐Almeida, Arnold Münnich, Michael L. Cunningham, Stanislas Lyonnet, Jeanne Amiel

    出版 2014
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  10. 10
    Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development

    Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development 由 Gabriella Shih Ping Hsia, Camila Manso Musso, Lucas Alvizi, Luciano Abreu Brito, Gerson Shigeru Kobayashi, Rita C.M. Pavanello, Mayana Zatz, Alice Gardham, Emma Wakeling, Roseli Maria Zechi‐Ceide, Débora Romeo Bertola, Maria Rita Passos‐Bueno

    出版 2018
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  11. 11
    EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome

    EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome 由 Emily E. Miller, Gerson Shigeru Kobayashi, Camila Manso Musso, Miranda Allen, Felipe Augusto André Ishiy, Luiz Carlos de Caires, Ernesto Goulart, Karina Griesi‐Oliveira, Roseli Maria Zechi‐Ceide, Antônio Richieri‐Costa, Débora Romeo Bertola, Maria Rita Passos‐Bueno, Debra L. Silver

    出版 2017
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  12. 12
    Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

    Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears 由 Christopher T. Gordon, Florence Petit, Peter M. Kroisel, Linda P. Jakobsen, Roseli Maria Zechi‐Ceide, Myriam Oufadem, Christine Bôle‐Feysot, Solenn Pruvost, Cécile Masson, Frédéric Torès, Thierry Hieu, Patrick Nitschké, Pernille Lindholm, P. Pellerin, Maria Leine Guion‐Almeida, Nancy Mizue Kokitsu‐Nakata, Siulan Vendramini‐Pittoli, Arnold Münnich, Stanislas Lyonnet, Muriel Holder‐Espinasse, Jeanne Amiel

    出版 2013
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  13. 13
    A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects

    A Noncoding Expansion in EIF4A3 Causes Richieri-Costa-Pereira Syndrome, a Craniofacial Disorder Associated with Limb Defects 由 Francine Pinheiro Favaro, Lucas Alvizi, Roseli Maria Zechi‐Ceide, Débora Romeo Bertola, Têmis Maria Félix, Josiane Souza, Salmo Raskin, Stephen R.F. Twigg, Andrea M. J. Weiner, Pablo Armas, Ezequiel Margarit, Nora B. Calcaterra, G.R. Andersen, Simon J. McGowan, Andrew O.M. Wilkie, Antônio Richieri‐Costa, M. Almeida, Maria Rita Passos‐Bueno

    出版 2013
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  14. 14
    Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

    Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect 由 Vanessa Luiza Romanelli Tavares, Christopher T. Gordon, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Norine Voisin, Tiong Yang Tan, Andrew A. Heggie, Siulan Vendramini‐Pittoli, Evan J. Propst, Blake C. Papsin, Tatiana Teixeira Torres, Henk P.J. Buermans, Luciane P. Capelo, Johan T. den Dunnen, Maria Leine Guion‐Almeida, Stanislas Lyonnet, Jeanne Amiel, Maria Rita Passos‐Bueno

    出版 2014
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  15. 15
    Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

    Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes 由 Stephen R.F. Twigg, Christian Babbs, Marijke E.P. van den Elzen, Anne Goriely, Stephen Taylor, Simon J. McGowan, Eleni Giannoulatou, Lorne Lonie, Jiannis Ragoussis, Elham Sadighi Akha, Samantha J.L. Knight, Roseli Maria Zechi‐Ceide, Jeannette Hoogeboom, Barbara R. Pober, Helga V. Toriello, Steven A. Wall, Maria Rita Passos‐Bueno, Han G. Brunner, Irene M.J. Mathijssen, Andrew O.M. Wilkie

    出版 2013
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  16. 16
    Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

    Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly 由 Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart Douglas, Danielle C. Lynch, Chandree L. Beaulieu, Maria Leine Guion‐Almeida, Roseli Maria Zechi‐Ceide, Blanca Gener, Gabriele Gillessen‐Kaesbach, Caroline Nava, Geneviève Baujat, Denise Horn, Usha Kini, Almuth Caliebe, Yasemin Alanay, Gülen Eda Ütine, Dorit Lev, Jürgen Kohlhase, Arthur W. Grix, Dietmar Lohmann, Ute Hehr, Detlef Böhm, Jacek Majewski, Dennis E. Bulman, Dagmar Wieczorek, Kym M. Boycott

    出版 2012
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  17. 17
    Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia

    Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia 由 Christopher T. Gordon, K. Nicole Weaver, Roseli Maria Zechi‐Ceide, Erik Madsen, André L. P. Tavares, Myriam Oufadem, Yukiko Kurihara, Igor Adameyko, Arnaud Picard, Sylvain Breton, S. Pierrot, Martin Biosse Duplan, Norine Voisin, Cécile Masson, Christine Bôle‐Feysot, Patrick Nitschké, Marie-Ange Delrue, Didier Lacombe, Maria Leine Guion‐Almeida, Priscila Padilha Moura, Daniela Gamba Garib, Arnold Münnich, Patrik Ernfors, Robert B. Hufnagel, Robert J. Hopkin, Hiroki Kurihara, Howard M. Saal, David D. Weaver, Nicholas Katsanis, Stanislas Lyonnet, Christelle Golzio, David E. Clouthier, Jeanne Amiel

    出版 2015
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  18. 18
    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases 由 Nancy Végas, Zeynep Demir, Christopher T. Gordon, Sylvain Breton, Vanessa Luiza Romanelli Tavares, Hugo Moisset, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Hon‐Yin Chung, Nicole Revençu, Daphné Lehalle, Florence Petit, Evan J. Propst, Blake C. Papsin, John H. Phillips, Linda P. Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H. Gerkes, Chiara Leoni, Peter M. Kroisel, Tiong Yang Tan, Alex Henderson, Paulien A. Terhal, Lina Basel‐Vanagaite, A. Alkindy, Susan M. White, Maria Rita Passos‐Bueno, Véronique Pingault, Loïc de Pontual, Jeanne Amiel

    出版 2022
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  19. 19
    Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries

    Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries 由 Patricia C. Mazzonetto, Darine Villela, Ana Cristina Victorino Krepischi, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Marcelo G. Paula, Matheus Carvalho Bürger, Ana Gabriela Caldas Oliveira, Gustavo G. G. Fonseca, Roberto Giugliani, Mariluce Riegel, Débora Romeo Bertola, Guilherme Lopes Yamamoto, Maria Rita Passos‐Bueno, Gabriele da Silva Campos, Ana Claudia Dantas Machado, Juliana F. Mazzeu, Eduardo Perrone, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Társis Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil‐da‐Silva‐Lopes, Daniela Koeller Rodrigues Vieira, Raquel Boy, João Monteiro de Pina Neto, Cristovam Scapulatempo‐Neto, Fernanda Milanezi, Carla Rosenberg

    出版 2023
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  20. 20
    Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries

    Low‐pass whole genome sequencing as a cost‐effective alternative to chromosomal microarray analysis for low‐ and middle‐income countries 由 Patricia C. Mazzonetto, Darine Villela, Ana Cristina Victorino Krepischi, Paulo Marques Pierry, Adriano Bonaldi, Luiz Gustavo Dufner‐Almeida, Marcelo G. Paula, Matheus Carvalho Bürger, Ana Gabriela de Oliveira, Gustavo G. G. Fonseca, Roberto Giugliani, Mariluce Riegel, Débora Romeo Bertola, Guilherme Lopes Yamamoto, Maria Rita Passos‐Bueno, Gabriele da Silva Campos, Ana Claudia Dantas Machado, Juliana F. Mazzeu, Eduardo Perrone, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Társis Paiva Vieira, Carlos Eduardo Steiner, Vera Lúcia Gil‐da‐Silva‐Lopes, Daniela Koeller Rodrigues Vieira, Raquel Boy, João Monteiro de Pina Neto, Cristovam Scapulatempo‐Neto, Fernanda Milanezi, Carla Rosenberg

    出版 2024
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