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uORF-creating mutations in Van der Woude syndrome: why it is important to study 5’UTRs
Magalie Lodin
,
Julie Galimand
,
Florence Dastot - Le Moal
,
Bruno Copin
,
Sandra Mercier
,
et al.
European Society of Human Genetics, Jun 2022, Vienne, Austria
Conference poster
inserm-03922101v1
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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.
Journal articles
inserm-03712902v1
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Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Nadège Bondurand
,
Florence Dastot-Le Moal
,
Laure Stanchina
,
Nathalie Collot
,
Viviane Baral
,
et al.
Journal articles
inserm-00196715v1
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Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report
Ilham Ratbi
,
Nawfal Fejjal
,
Marie Legendre
,
Nathalie Collot
,
Serge Amselem
,
et al.
Journal articles
hal-03884742v1
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Mutations in GAS8 , a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization
Ludovic Jeanson
,
Lucie Thomas
,
Bruno Copin
,
André Coste
,
Isabelle Sermet-Gaudelus
,
et al.
Journal articles
inserm-03884295v1
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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
Conference papers
inserm-03934333v1
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Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients
Enzo Cohen
,
Mohamad Maghnie
,
Nathalie Collot
,
Juliane Leger
,
Florence Dastot
,
et al.
Journal articles
inserm-03837720v1
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Contribution des mutations du gène GHRHR aux déficits isolés en hormone de croissance non syndromiques dans une large cohorte de 313 patients indépendants
Sabrina Belkacem
,
Enzo Cohen
,
Soumeya Fedala
,
Nathalie Collot
,
Eliane Khallouf
,
et al.
Assises de Génétique Humaine et Médicale, Jan 2018, Nantes (FR), France
Conference poster
inserm-03952757v1
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Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility
Elma El Khouri
,
Lucie Thomas
,
Ludovic Jeanson
,
Emilie Bequignon
,
Benoit Vallette
,
et al.
Journal articles
inserm-03875562v1
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uORF-creating-mutations in Van der Woude syndrome: why it is important to study 5’UTRs
Magalie Lodin
,
Julie Galimand
,
Florence Dastot - Le Moal
,
Bruno Copin
,
Sandra Mercier
,
et al.
Assises de Génétique, Feb 2022, Rennes (FR), France
Conference papers
inserm-03922478v1
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Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias
Matthieu Peycelon
,
Lamisse Mansour-Hendili
,
Capucine Hyon
,
Nathalie Collot
,
Muriel Houang
,
et al.
Journal articles
inserm-03837653v1
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Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
Esther Kott
,
Marie Legendre
,
Bruno Copin
,
Jean-François Papon
,
Florence Dastot-Le Moal
,
et al.
Journal articles
inserm-03887837v1
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Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism
Nabila Fritez
,
Marie-Laure Sobrier
,
Hinde Iraqi
,
Marie-Pierre Vié-Luton
,
Irène Netchine
,
et al.
Journal articles
istex
hal-03884719v1
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