檢索結果 - Netchine, Irene

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

獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文