Rezultati pretrage - Netchine, Irène

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

Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst

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 od Giabicani, Eloïse, Chantot-Bastaraud, Sandra, Bonnard, Adeline, Rachid, Myriam, Whalen, Sandra, Netchine, Irène, Brioude, Frédéric

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

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

Preuzmi cijeli tekst Preuzmi cijeli tekst

Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders od 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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst

Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4 od 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

Preuzmi cijeli tekst Preuzmi cijeli tekst

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci od 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

Preuzmi cijeli tekst Preuzmi cijeli tekst Preuzmi cijeli tekst