Search Results - Netchine, Irene

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  1. 1
    SAT-039 GNAS-miRNAs Are Likely Involved in the Phenotype of Patients with Pseudohypoparathyroidism 1B/iPPSD3

    SAT-039 GNAS-miRNAs Are Likely Involved in the Phenotype of Patients with Pseudohypoparathyroidism 1B/iPPSD3 by Hanna, Patrick, Netchine, Irène, Le Stunff, Catherine, Linglart, Agnès

    Published 2019
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  2. 2
    IGF2: Development, Genetic and Epigenetic Abnormalities

    IGF2: Development, Genetic and Epigenetic Abnormalities by Sélénou, Céline, Brioude, Frédéric, Giabicani, Eloïse, Sobrier, Marie-Laure, Netchine, Irène

    Published 2022
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  3. 3
    Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit

    Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit by Donadille, Bruno, Houang, Muriel, Netchine, Irène, Siffroi, Jean-Pierre, Christin-Maitre, Sophie

    Published 2018
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  4. 4
    New Horizons in Short Children Born Small for Gestational Age

    New Horizons in Short Children Born Small for Gestational Age by Netchine, Irène, van der Steen, Manouk, López-Bermejo, Abel, Koledova, Ekaterina, Maghnie, Mohamad

    Published 2021
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  5. 5
    Dysgenesis of the Internal Carotid ArteryAssociated with Transsphenoidal Encephalocele:A Neural Crest Syndrome?

    Dysgenesis of the Internal Carotid ArteryAssociated with Transsphenoidal Encephalocele:A Neural Crest Syndrome? by Blustajn, Jerry, Netchine, Irène, Frédy, Daniel, Bakouche, Pierre, Piekarski, Jean Daniel, Meder, Jean François

    Published 1999
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  6. 6
    Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

    Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion by Giabicani, Eloïse, Chantot-Bastaraud, Sandra, Bonnard, Adeline, Rachid, Myriam, Whalen, Sandra, Netchine, Irène, Brioude, Frédéric

    Published 2019
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  7. 7
    A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

    A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome by Azzi, Salah, Salem, Jennifer, Thibaud, Nathalie, Chantot-Bastaraud, Sandra, Lieber, Eli, Netchine, Irène, Harbison, Madeleine D

    Published 2015
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  8. 8
    Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants

    Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants by Pham, Aurélie, Sobrier, Marie-Laure, Giabicani, Eloïse, Le Jules Fernandes, Marilyne, Mitanchez, Delphine, Brioude, Fréderic, Netchine, Irène

    Published 2021
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  9. 9
    Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot

    Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot by Houang, Muriel, Nguyen-Khoa, Thao, Eguether, Thibaut, Ribault, Bettina, Brabant, Séverine, Polak, Michel, Netchine, Irène, Lamazière, Antonin

    Published 2022
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  10. 10
    Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network

    Growth Restriction and Genomic Imprinting-Overlapping Phenotypes Support the Concept of an Imprinting Network by Eggermann, Thomas, Davies, Justin H., Tauber, Maithé, van den Akker, Erica, Hokken-Koelega, Anita, Johansson, Gudmundur, Netchine, Irène

    Published 2021
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  11. 11
    Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

    Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction by Chantot-Bastaraud, Sandra, Stratmann, Svea, Brioude, Frédéric, Begemann, Matthias, Elbracht, Miriam, Graul-Neumann, Luitgard, Harbison, Madeleine, Netchine, Irène, Eggermann, Thomas

    Published 2017
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  12. 12
    Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth

    Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth by Pham, Aurelie, Mitanchez, Delphine, Forhan, Anne, Perin, Laurence, Le Bouc, Yves, Brioude, Frederic, Sobrier, Marie-Laure, Heude, Barbara, Netchine, Irene

    Published 2022
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  13. 13
    Degree of methylation of ZAC1 (PLAGL1) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort

    Degree of methylation of ZAC1 (PLAGL1) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort by Azzi, Salah, Sas, Theo CJ, Koudou, Yves, Le Bouc, Yves, Souberbielle, Jean-Claude, Dargent-Molina, Patricia, Netchine, Irène, Charles, Marie-Aline

    Published 2014
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  14. 14
    Dental pulp stem cells as a promising model to study imprinting diseases

    Dental pulp stem cells as a promising model to study imprinting diseases by Giabicani, Eloïse, Pham, Aurélie, Sélénou, Céline, Sobrier, Marie-Laure, Andrique, Caroline, Lesieur, Julie, Linglart, Agnès, Poliard, Anne, Chaussain, Catherine, Netchine, Irène

    Published 2022
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  15. 15
    Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

    Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care by Eggermann, Thomas, Netchine, Irène, Temple, I Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah, Grønskov, Karin, Riccio, Andrea, Linglart, Agnès, Maher, Eamonn R

    Published 2015
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  16. 16
    Clinical utility gene card for: Beckwith–Wiedemann Syndrome

    Clinical utility gene card for: Beckwith–Wiedemann Syndrome by Eggermann, Thomas, Algar, Elizabeth, Lapunzina, Pablo, Mackay, Deborah, Maher, Eamonn R, Mannens, Marcel, Netchine, Irène, Prawitt, Dirk, Riccio, Andrea, Temple, I Karen, Weksberg, Rosanna

    Published 2014
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  17. 17
    Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development

    Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development by Netchine, Irène, Azzi, Salah, Houang, Muriel, Seurin, Danielle, Perin, Laurence, Ricort, Jean-Marc, Daubas, Claudine, Legay, Christine, Mester, Jan, Herich, Robert, Godeau, François, Le Bouc, Yves

    Published 2009
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  18. 18
    Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders

    Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders by Abi Habib, Walid, Brioude, Frédéric, Azzi, Salah, Rossignol, Sylvie, Linglart, Agnès, Sobrier, Marie-Laure, Giabicani, Éloïse, Steunou, Virginie, Harbison, Madeleine D., Le Bouc, Yves, Netchine, Irène

    Published 2019
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  19. 19
    Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

    Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4 by Machinis, Kalotina, Pantel, Jacques, Netchine, Irène, Léger, Juliane, Camand, Olivier J. A., Sobrier, Marie-Laure, Moal, Florence Dastot-Le, Duquesnoy, Philippe, Abitbol, Marc, Czernichow, Paul, Amselem, Serge

    Published 2001
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  20. 20
    Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci by Eggermann, Thomas, de Nanclares, Guiomar Perez, Maher, Eamonn R., Temple, I. Karen, Tümer, Zeynep, Monk, David, Mackay, Deborah J. G., Grønskov, Karen, Riccio, Andrea, Linglart, Agnès, Netchine, Irène

    Published 2016
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