Canlyniadau Chwilio - Fernanda Sarquis Jehee

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  1. 1
    Molecular aspects of craniosynostoses: implications in diagnosis and genetic counseling

    Molecular aspects of craniosynostoses: implications in diagnosis and genetic counseling gan Maria Rita Passos‐Bueno, Fernanda Sarquis Jehee, Lúcia Maria Libório Armelin

    Cyhoeddwyd 2001
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  2. 2
    Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil

    Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil gan Gabrielle S. Vianna, Paula Frassinetti Vasconcelos de Medeiros, A.F. Alves, T. O. Silva, Fernanda Sarquis Jehee

    Cyhoeddwyd 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 gan Roseli Maria Zechi‐Ceide, Melina Guerreiro Rodrigues, Fernanda Sarquis Jehee, Nancy Mizue Kokitsu‐Nakata, Maria Rita Passos‐Bueno, Maria Leine Guion‐Almeida

    Cyhoeddwyd 2012
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  4. 4
    Methylation profile of SNRPN gene and its correlation with weight and chronological age

    Methylation profile of SNRPN gene and its correlation with weight and chronological age gan Natália Virtude Carobin, F.V.M. Rubatino, Mariana L. de Freitas, Patrícia Peres de Oliveira, Rafaella X. Pietra, Adriana Bosco, Fernanda Sarquis Jehee

    Cyhoeddwyd 2015
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  5. 5
    Carpenter syndrome: extended <i>RAB23</i> mutation spectrum and analysis of nonsense‐mediated mRNA decay

    Carpenter syndrome: extended <i>RAB23</i> mutation spectrum and analysis of nonsense‐mediated mRNA decay gan Dagan Jenkins, Gareth Baynam, Luc De Catte, Nursel Elçioǧlu, Michael T. Gabbett, Louanne Hudgins, Jane A. Hurst, Fernanda Sarquis Jehee, Christine Oley, Andrew O.M. Wilkie

    Cyhoeddwyd 2011
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  6. 6
    Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

    Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries gan Roberta Lelis Dutra, Rachel Sayuri Honjo, Leslie Domenici Kulikowski, Fernanda Andrade Macaferri da Fonseca, Patrícia C. Pieri, Fernanda Sarquis Jehee, Débora Romeo Bertola, Chong Ae Kim

    Cyhoeddwyd 2012
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  7. 7
    An Xq22.3 duplication detected by comparative genomic hybridization microarray (<i>Array‐CGH</i>) defines a new locus (<i>FGS5</i>) for FG syndrome

    An Xq22.3 duplication detected by comparative genomic hybridization microarray (<i>Array‐CGH</i>) defines a new locus (<i>FGS5</i>) for FG syndrome gan Fernanda Sarquis Jehee, Carla Rosenberg, Ana Cristina Victorino Krepischi, Fernando Kok, Jeroen Knijnenburg, Guy Froyen, Angela Maria Vianna‐Morgante, John M. Opitz, Maria Rita Passos‐Bueno

    Cyhoeddwyd 2005
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  8. 8
    High-fat diet feeding reduces the expression of Rab3a, Rab3gap1, and Rab3Gap2 genes that are pivotal to neuronal exocytosis

    High-fat diet feeding reduces the expression of Rab3a, Rab3gap1, and Rab3Gap2 genes that are pivotal to neuronal exocytosis gan Luana Assis Ferreira, Fernando Victor Martins Rubatino, Mariana Lacerda de Freitas, Leonardo Rossi de Oliveira, Célio José de Castro, Fernanda Sarquis Jehee, Adriana Bosco, Karla Fernandes

    Cyhoeddwyd 2021
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  9. 9
    Manipulation of primer affinity improves high-resolution melting accuracy for imprinted genes

    Manipulation of primer affinity improves high-resolution melting accuracy for imprinted genes gan F.V.M. Rubatino, Natália Virtude Carobin, Mariana L. de Freitas, Patrícia Peres de Oliveira, Rafaella X. Pietra, P.P.R. Oliveira, Adriana Bosco, Fernanda Sarquis Jehee

    Cyhoeddwyd 2015
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  10. 10
    Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries

    Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countrie... gan Fernanda Sarquis Jehee, Jean Tetsuo Takamori, Paula Frassinetti Vasconcelos de Medeiros, Ana Carolina Barbosa Pordeus, Flávia Roche Moreira Latini, Débora Romeo Bertola, Chong Ae Kim, Maria Rita Passos‐Bueno

    Cyhoeddwyd 2011
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  11. 11
    SNX3, UBE2O and SNX27 Protein Expressions are Altered in the Hypothalamus of High-Fat Diet Fed Mice. Possible Implications for Retrograde Protein Trafficking

    SNX3, UBE2O and SNX27 Protein Expressions are Altered in the Hypothalamus of High-Fat Diet Fed Mice. Possible Implications for Retrograde Protein Trafficking gan Leonardo Rossi de Oliveira, Nathalia Augusta de Oliveira Gomes, Luana Assis Ferreira, Mariana Lacerda de Freitas, Aryane Mayra Fernandes, Célio José de Castro, Fernanda Sarquis Jehee, Adriana Bosco, Karla Fernandes

    Cyhoeddwyd 2019
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  12. 12
    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 gan 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

    Cyhoeddwyd 2020
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  13. 13
    Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test

    Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test gan Rejane A.C. Monteiro, Mariana L. de Freitas, Gabrielle S. Vianna, Valdirene T. de Oliveira, Rafaella X. Pietra, Luana C.A. Ferreira, Patrícia Rocha, Michele da S. Gonçalves, Giovana da C. César, Joziele de Souza Lima, Paula Frassinetti Vasconcelos de Medeiros, Juliana F. Mazzeu, Fernanda Sarquis Jehee

    Cyhoeddwyd 2017
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  14. 14
    RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

    RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity gan Dagan Jenkins, Dominik Seelow, Fernanda Sarquis Jehee, Chad A. Perlyn, Luís Garcia Alonso, Daniela Franco Bueno, Dian Donnai, Dragana Josifiova, Irene M.J. Mathijssen, Jenny E.V. Morton, Karen Helene Ørstavik, Elizabeth Sweeney, Steven A. Wall, Jeffrey L. Marsh, Peter Nürnberg, Maria Rita Passos‐Bueno, Andrew O.M. Wilkie

    Cyhoeddwyd 2007
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  15. 15
    Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature

    Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature gan Emily S Doherty, Felicitas Lacbawan, Donald W. Hadley, Carmen C. Brewer, Christopher Zalewski, H. Jeff Kim, Beth Solomon, Kenneth N. Rosenbaum, Demetrio L. Domingo, Thomas C. Hart, Brian P. Brooks, LaDonna Immken, R. Brian Lowry, Virginia Kimonis, Alan Shanske, Fernanda Sarquis Jehee, Maria Rita Passos‐Bueno, Carol Knightly, Donna M. McDonald‐McGinn, Elaine H. Zackai, Maximilian Muenke

    Cyhoeddwyd 2007
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  16. 16
    Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

    Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice gan Lisenka E.L.M. Vissers, Timothy C. Cox, A. Murat Maga, Kieran M. Short, Fenny Wiradjaja, Irene M. Janssen, Fernanda Sarquis Jehee, Débora Romeo Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L. Cunningham, Peter J. Anderson, Simeon A. Boyadjiev, Maria Rita Passos‐Bueno, Joris A. Veltman, Ian Smyth, Michael F. Buckley, Tony Roscioli

    Cyhoeddwyd 2011
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  17. 17
    Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes

    Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes gan Gabrielle S. Vianna, Mariana L. de Freitas, Valdirene T. de Oliveira, Rafaella X. Pietra, Michele da S. Gonçalves, Patrícia Rocha, Rejane A.C. Monteiro, Luana C.A. Ferreira, Rosana R. Xavier, Andréia M. Carvalho, Patrícia R. de M. Lima, Maria Augusta N.P. Monteiro, Elvis C. Mateo, Juliana Gurgel‐Giannetti, Giovana da C. César, Joziele de Souza Lima, Paula Frassinetti Vasconcelos de Medeiros, Fernanda Sarquis Jehee

    Cyhoeddwyd 2016
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  18. 18
    Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins

    Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins gan Fernanda Sarquis Jehee, Valdirene T. de Oliveira, Juliana Gurgel‐Giannetti, Rafaella X. Pietra, F.V.M. Rubatino, Natália Virtude Carobin, Gabrielle S. Vianna, Mariana L. de Freitas, Karla Fernandes, Beatriz S. V. Ribeiro, Hennie T. Brüggenwirth, Roza Ali‐Amin, Janson J. White, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski, Monica Castro Varela, Célia Priszkulnik Koiffmann, Carla Rosenberg, Claudia M.B. Carvalho

    Cyhoeddwyd 2017
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  19. 19
    Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

    Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study gan Lisanne van Prooyen Schuurman, Erik A. Sistermans, Diane Van Opstal, Lidewij Henneman, Mireille N. Bekker, Caroline J. Bax, Mijntje J. Pieters, Katelijne Bouman, Sonja de Munnik, Nicolette S. den Hollander, Karin E. M. Diderich, Brigitte H. W. Faas, Ilse Feenstra, Attie T. J. I. Go, Mariëtte J.V. Hoffer, Marieke Joosten, Fenne L. Komdeur, Klaske D. Lichtenbelt, Maria Lombardi, Marike Polak, Fernanda Sarquis Jehee, Heleen Schuring‐Blom, Servi J.C. Stevens, Malgorzata I. Srebniak, Ron F. Suijkerbuijk, Gita Tan-Sindhunata, Karuna R. M. van der Meij, Merel C. van Maarle, Vivian Vernimmen, Shama L. van Zelderen‐Bhola, Nicolien T. van Ravesteyn, Maarten F. C. M. Knapen, Merryn Macville, Robert‐Jan H. Galjaard

    Cyhoeddwyd 2022
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  20. 20
    TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

    TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands gan Karuna R. M. van der Meij, Erik A. Sistermans, Merryn Macville, Servi J.C. Stevens, Caroline J. Bax, Mireille N. Bekker, Caterina M. Bilardo, Elles M. J. Boon, Marjan Boter, Karin E. M. Diderich, Christine de Die‐Smulders, L. Duin, Brigitte H. W. Faas, Ilse Feenstra, Monique C. Haak, Mariëtte J.V. Hoffer, Nicolette S. den Hollander, Iris H.I.M. Hollink, Fernanda Sarquis Jehee, Maarten F. C. M. Knapen, Angelique J. A. Kooper, Irene M. van Langen, Klaske D. Lichtenbelt, Ingeborg H. Linskens, Merel C. van Maarle, Dick Oepkes, Mijntje J. Pieters, G. Heleen Schuring‐Blom, Esther Sikkel, Birgit Sikkema‐Raddatz, Dominique Smeets, Malgorzata I. Srebniak, Ron F. Suijkerbuijk, Gita Tan-Sindhunata, A. Jeanine E. M. van der Ven, Shama L. van Zelderen‐Bhola, Lidewij Henneman, Robert-Jan H. Galjaard, Diane Van Opstal, Marjan M. Weiss

    Cyhoeddwyd 2019
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