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Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
Published in:
Nature Genetics, 2000, v. 25, n. 2, p. 182, doi. 10.1038/76041
By:
- Netchine, Irène;
- Sobrier, Marie-Laure;
- Krude, Heiko;
- Schnabel, Dirk;
- Maghnie, Mohamed;
- Marcos, Elisabeth;
- Duriez, Bénédicte;
- Cacheux, Valère;
- Moers, Arpard v.;
- Goossens, Michel;
- Grüters, Annette;
- Amselem, Serge
Publication type:
Article
Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
Published in:
2016
By:
- 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
Publication type:
journal article
Novel HESX1 Mutations Associated with a LifeThreatening Neonatal Phenotype, Pituitary Aplasia, but Normally Located Posterior Pituitary and No Optic Nerve Abnormalities.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 11, p. 4528, doi. 10.1210/jc.2006-0426
By:
- Sobrier, Marie-Laure;
- Maghnie, Mohamad;
- Vié-Luton, Marie-Pierre;
- Secco, Andrea;
- di Iorgi, Natascia;
- Lorini, Renata;
- Amselem, Serge
Publication type:
Article
Nine Novel Growth Hormone Receptor Gene Mutations in Patients with Laron Syndrome.
Published in:
Journal of Clinical Endocrinology & Metabolism, 1997, v. 82, n. 2, p. 435, doi. 10.1210/jcem.82.2.3725
By:
- Sobrier, Marie-Laure;
- Dastot, Florence;
- Duquesnoy, Philippe;
- Kandemir, Nurgün;
- Yordam, Nursen;
- Goossens, Michel;
- Amselem, Serge
Publication type:
Article
Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities.
Published in:
European Journal of Endocrinology, 2012, v. 167, n. 1, p. 85, doi. 10.1530/EJE-12-0026
By:
- Pe'rez, Christelle;
- Moal, Florence Dastot-Le;
- Collot, Nathalie;
- Legendre, Marie;
- Abadie, Isabelle;
- Bertrand, Anne-Marie;
- Amselem, Serge;
- Sobrier, Marie-Laure
Publication type:
Article
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Published in:
2021
By:
- 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;
- Zegher, Francis de;
- 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
Publication type:
journal article
Dental pulp stem cells as a promising model to study imprinting diseases.
Published in:
International Journal of Oral Science, 2022, v. 14, n. 1, p. 1, doi. 10.1038/s41368-022-00169-1
By:
- Giabicani, Eloïse;
- Pham, Aurélie;
- Sélénou, Céline;
- Sobrier, Marie-Laure;
- Andrique, Caroline;
- Lesieur, Julie;
- Linglart, Agnès;
- Poliard, Anne;
- Chaussain, Catherine;
- Netchine, Irène
Publication type:
Article
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 3, p. 472, doi. 10.1093/hmg/ddv486
By:
- Sobrier, Marie-Laure;
- Yu-Cheng Tsai;
- 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
Publication type:
Article
Unusual Phenotypic Features in a Patient with a Novel Splice Mutation in the GHRHR Gene.
Published in:
Molecular Medicine, 2008, v. 14, n. 5/6, p. 286, doi. 10.2119/2007-00128.Hilal
By:
- Hilal, Latifa;
- Hajaji, Yassir;
- Vie-Luton, Marie-Pierre;
- Ajaltouni, Zeina;
- Benazzouz, Bouchra;
- Chana, Maha;
- Chraïbi, Adelmajid;
- Kadiri, Abdelkrim;
- Amselem, Serge;
- Sobrier, Marie-Laure
Publication type:
Article
IGF2 : Development, Genetic and Epigenetic Abnormalities.
Published in:
Cells (2073-4409), 2022, v. 11, n. 12, p. 1886, doi. 10.3390/cells11121886
By:
- Sélénou, Céline;
- Brioude, Frédéric;
- Giabicani, Eloïse;
- Sobrier, Marie-Laure;
- Netchine, Irène
Publication type:
Article
Low Maternal DLK1 Levels at 26 Weeks Is Associated With Small for Gestational Age at Birth.
Published in:
Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.836731
By:
- Pham, Aurelie;
- Mitanchez, Delphine;
- Forhan, Anne;
- Perin, Laurence;
- Le Bouc, Yves;
- Brioude, Frederic;
- Sobrier, Marie-Laure;
- Heude, Barbara;
- Netchine, Irene
Publication type:
Article
Oriented Scanning Is the Leading Mechanism Underlying 5' Splice Site Selection in Mammals.
Published in:
PLoS Genetics, 2006, v. 3, n. 3, p. e138, doi. 10.1371/journal.pgen.0020138
By:
- Borensztajn, Keren;
- Sobrier, Marie-Laure;
- Duquesnoy, Philippe;
- Fischer, Anne-Marie;
- Tapon-Bretaudière, Jacqueline;
- Amselem, Serge
Publication type:
Article
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Published in:
Human Mutation, 2019, v. 40, n. 11, p. 2033, doi. 10.1002/humu.23847
By:
- 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
Publication type:
Article
Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary.
Published in:
Human Mutation, 2005, v. 25, n. 5, p. 503, doi. 10.1002/humu.9332
By:
- Sobrier, Marie-Laure;
- Netchine, Irène;
- Heinrichs, Claudine;
- Thibaud, Nathalie;
- Vié-Luton, Marie-Pierre;
- Van Vliet, Guy;
- Amselem, Serge
Publication type:
Article
Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.
Published in:
Clinical Endocrinology, 2015, v. 82, n. 6, p. 876, doi. 10.1111/cen.12706
By:
- 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
Publication type:
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.
Published in:
Clinical Endocrinology, 2011, v. 75, n. 2, p. 214, doi. 10.1111/j.1365-2265.2011.04028.x
By:
- Tenenbaum-Rakover, Yardena;
- Sobrier, Marie-Laure;
- Amselem, Serge
Publication type:
Article
Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene.
Published in:
2008
By:
- Iughetti, Lorenzo;
- Sobrier, Marie-Laure;
- Predieri, Barbara;
- Netchine, Irene;
- Carani, Cesare;
- Bernasconi, Sergio;
- Balli, Fiorella;
- Amselem, Serge
Publication type:
Letter
Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 4, p. 355
By:
- Amselem, Serge;
- Duquesnoy, Philippe;
- Duriez, Bénédicte;
- Dastot, Florence;
- Sobrier, Marie-Laure;
- Valleix, Sophie;
- Goossens, Michel
Publication type:
Article

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