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Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations
Enzo Cohen
,
Sabrina Belkacem
,
Soumeya Fedala
,
Nathalie Collot
,
Eliane Khallouf
,
et al.
Article dans une revue
inserm-03712902v1
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IGF2: Development, Genetic and Epigenetic Abnormalities
Céline Sélénou
,
Frédéric Brioude
,
Eloïse Giabicani
,
Marie-Laure Sobrier
,
Irène Netchine
Article dans une revue
hal-03711849v1
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Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD
Marie-Laure Sobrier
,
Yu-Cheng Tsai
,
Christelle Pérez
,
Bruno Leheup
,
Tahar Bouceba
,
et al.
Article dans une revue
hal-01304122v1
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Contribution of Functionally Assessed GHRHR Mutations to Idiopathic Isolated Growth Hormone Deficiency in a Cohort of 312 Unrelated Patients
Enzo Cohen
,
Sabrina Belkacem
,
Soumeya Fedala
,
Nathalie Collot
,
Eliane Khallouf
,
et al.
57th Annual Meeting of the European Society for Paediatric Endocrinology, Sep 2018, Athenes, Grece, Greece
Communication dans un congrès
inserm-03934333v1
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Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities
C. Perez
,
Florence Dastot-Le Moal
,
N. Collot
,
M. Legendre
,
I. Abadie
,
et al.
Article dans une revue
inserm-03888901v1
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Symptomatic Heterozygotes and Prenatal Diagnoses in a Nonconsanguineous Family with Syndromic Combined Pituitary Hormone Deficiency Resulting from Two Novel LHX3 Mutations
Marie-Laure Sobrier
,
Cécile Brachet
,
Marie-Pierre Vié-Luton
,
Christelle Perez
,
Bruno Copin
,
et al.
Article dans une revue
inserm-03889540v1
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Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders
Walid Abi Habib
,
Frédéric Brioude
,
Salah Azzi
,
Sylvie Rossignol
,
Agnès Linglart
,
et al.
Article dans une revue
hal-02090873v1
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