IGF2: Development, Genetic and Epigenetic Abnormalities
Sélénou, Céline, Brioude, Frédéric, Giabicani, Eloïse, Sobrier, Marie-Laure, Netchine, Irène
Published in Cells (Basel, Switzerland) (10.06.2022)
Published in Cells (Basel, Switzerland) (10.06.2022)
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Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations
Cohen, Enzo, Belkacem, Sabrina, Fedala, Soumeya, Collot, Nathalie, Khallouf, Eliane, Dastot, Florence, Polak, Michel, Duquesnoy, Philippe, Brioude, Frederic, Rose, Sophie, Viot, Géraldine, Soleyan, Aude, Carel, Jean‐Claude, Sobrier, Marie‐Laure, Chanson, Philippe, Gatelais, Frédérique, Heinrichs, Claudine, Kaffel, Noureddine, Coutant, Regis, Savaş Erdeve, Şenay, Kurnaz, Erdal, Aycan, Zehra, Thalassinos, Caroline, Lyonnet, Stanislas, Şıklar, Zeynep, Berberoglu, Merih, Brachet, Cécile, Amselem, Serge, Legendre, Marie
Published in Human mutation (01.11.2019)
Published in Human mutation (01.11.2019)
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Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants
Pham, Aurélie, Sobrier, Marie-Laure, Giabicani, Eloïse, Le Jules Fernandes, Marilyne, Mitanchez, Delphine, Brioude, Fréderic, Netchine, Irène
Published in European journal of human genetics : EJHG (01.12.2021)
Published in European journal of human genetics : EJHG (01.12.2021)
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Journal Article
Dental pulp stem cells as a promising model to study imprinting diseases
Giabicani, Eloïse, Pham, Aurélie, Sélénou, Céline, Sobrier, Marie-Laure, Andrique, Caroline, Lesieur, Julie, Linglart, Agnès, Poliard, Anne, Chaussain, Catherine, Netchine, Irène
Published in International journal of oral science (02.04.2022)
Published in International journal of oral science (02.04.2022)
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Journal Article
Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth
Pham, Aurelie, Mitanchez, Delphine, Forhan, Anne, Perin, Laurence, Le Bouc, Yves, Brioude, Frederic, Sobrier, Marie-Laure, Heude, Barbara, Netchine, Irene
Published in Frontiers in endocrinology (Lausanne) (28.02.2022)
Published in Frontiers in endocrinology (Lausanne) (28.02.2022)
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Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism
Fritez, Nabila, Sobrier, Marie-Laure, Iraqi, Hinde, Vié-Luton, Marie-Pierre, Netchine, Irène, El Annas, Abdessamad, Pantel, Jacques, Collot, Nathalie, Rose, Sophie, Piterboth, William, Legendre, Marie, Chraibi, Abdelmjid, Amselem, Serge, Kadiri, Abdelkrim, Hilal, Latifa
Published in Clinical endocrinology (Oxford) (01.06.2015)
Published in Clinical endocrinology (Oxford) (01.06.2015)
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Journal Article
A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood
Tenenbaum-Rakover, Yardena, Sobrier, Marie-Laure, Amselem, Serge
Published in Clinical endocrinology (Oxford) (01.08.2011)
Published in Clinical endocrinology (Oxford) (01.08.2011)
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Journal Article
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency
Moers, Arpard v, Marcos, Elisabeth, Goossens, Michel, Schnabel, Dirk, Netchine, Irène, Maghnie, Mohamed, Amselem, Serge, Duriez, Bénédicte, Grüters, Annette, Sobrier, Marie-Laure, Krude, Heiko, Cacheux, Valère
Published in Nature genetics (01.06.2000)
Published in Nature genetics (01.06.2000)
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Journal Article
Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene
Iughetti, Lorenzo, Sobrier, Marie-Laure, Predieri, Barbara, Netchine, Irene, Carani, Cesare, Bernasconi, Sergio, Balli, Fiorella, Amselem, Serge
Published in Clinical endocrinology (Oxford) (01.07.2008)
Published in Clinical endocrinology (Oxford) (01.07.2008)
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Journal Article
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies
Canton, Ana Pinheiro Machado, Krepischi, Ana Cristina Victorino, Montenegro, Luciana Ribeiro, Costa, Silvia, Rosenberg, Carla, Steunou, Virginie, Sobrier, Marie-Laure, Santana, Lucas, Honjo, Rachel Sayuri, Kim, Chong Ae, de Zegher, Francis, Idkowiak, Jan, Gilligan, Lorna C, Arlt, Wiebke, Funari, Mariana Ferreira de Assis, Jorge, Alexander Augusto de Lima, Mendonca, Berenice Bilharinho, Netchine, Irène, Brito, Vinicius Nahime, Latronico, Ana Claudia
Published in Human reproduction (Oxford) (25.01.2021)
Published in Human reproduction (Oxford) (25.01.2021)
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Journal Article
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD
Sobrier, Marie-Laure, Tsai, Yu-Cheng, Pérez, Christelle, Leheup, Bruno, Bouceba, Tahar, Duquesnoy, Philippe, Copin, Bruno, Sizova, Daria, Penzo, Alfredo, Stanger, Ben Z, Cooke, Nancy E, Liebhaber, Stephen A, Amselem, Serge
Published in Human molecular genetics (01.02.2016)
Published in Human molecular genetics (01.02.2016)
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Journal Article
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients
Cohen, Enzo, Maghnie, Mohamad, Collot, Nathalie, Leger, Juliane, Dastot, Florence, Polak, Michel, Rose, Sophie, Touraine, Philippe, Duquesnoy, Philippe, Tauber, Maïté, Copin, Bruno, Bertrand, Anne-Marie, Brioude, Frederic, Larizza, Daniela, Edouard, Thomas, González Briceño, Laura, Netchine, Irène, Oliver-Petit, Isabelle, Sobrier, Marie-Laure, Amselem, Serge, Legendre, Marie
Published in The journal of clinical endocrinology and metabolism (01.01.2017)
Published in The journal of clinical endocrinology and metabolism (01.01.2017)
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Journal Article
Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders
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 in Science advances (01.02.2019)
Published in Science advances (01.02.2019)
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Journal Article
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes
Blum, Werner F., Klammt, Jürgen, Amselem, Serge, Pfäffle, Heike M., Legendre, Marie, Sobrier, Marie-Laure, Luton, Marie-Pierre, Child, Christopher J., Jones, Christine, Zimmermann, Alan G., Quigley, Charmian A., Cutler, Gordon B., Deal, Cheri L., Lebl, Jan, Rosenfeld, Ron G., Parks, John S., Pfäffle, Roland W.
Published in EBioMedicine (01.10.2018)
Published in EBioMedicine (01.10.2018)
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Journal Article
Symptomatic Heterozygotes and Prenatal Diagnoses in a Nonconsanguineous Family with Syndromic Combined Pituitary Hormone Deficiency Resulting from Two Novel LHX3 Mutations
Sobrier, Marie-Laure, Brachet, Cécile, Vié-Luton, Marie-Pierre, Perez, Christelle, Copin, Bruno, Legendre, Marie, Heinrichs, Claudine, Amselem, Serge
Published in The journal of clinical endocrinology and metabolism (01.03.2012)
Published in The journal of clinical endocrinology and metabolism (01.03.2012)
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Journal Article
Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4
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 in American journal of human genetics (01.11.2001)
Published in American journal of human genetics (01.11.2001)
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Journal Article
Novel HESX1 Mutations Associated with a Life-Threatening Neonatal Phenotype, Pituitary Aplasia, but Normally Located Posterior Pituitary and No Optic Nerve Abnormalities
Sobrier, Marie-Laure, Maghnie, Mohamad, Vié-Luton, Marie-Pierre, Secco, Andrea, di Iorgi, Natascia, Lorini, Renata, Amselem, Serge
Published in The journal of clinical endocrinology and metabolism (01.11.2006)
Published in The journal of clinical endocrinology and metabolism (01.11.2006)
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Journal Article
Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome
Amselem, S, Duquesnoy, P, Duriez, B, Dastot, F, Sobrier, M L, Valleix, S, Goossens, M
Published in Human molecular genetics (01.04.1993)
Published in Human molecular genetics (01.04.1993)
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