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authFullName_s : Nathalie Collot

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.
Human Mutation, 2019, 40 (11), pp.2033 - 2043. ⟨10.1002/humu.23847⟩
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.
American Journal of Human Genetics, 2007, 81 (6), pp.1169-85. ⟨10.1086/522090⟩
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 of Medical Case Reports, 2014, 8 (1), pp.471. ⟨10.1186/1752-1947-8-471⟩
Journal articles hal-03884742v1

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.
Human Mutation, 2016, 37 (8), pp.776-785. ⟨10.1002/humu.23005⟩
Journal articles inserm-03884295v1

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

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 of Clinical Endocrinology and Metabolism, 2017, 102 (1), pp.290-301. ⟨10.1210/jc.2016-3158⟩
Journal articles inserm-03837720v1

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

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.
American Journal of Human Genetics, 2016, 99 (2), pp.489-500. ⟨10.1016/j.ajhg.2016.06.022⟩
Journal articles inserm-03875562v1

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

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

Matthieu Peycelon , Lamisse Mansour-Hendili , Capucine Hyon , Nathalie Collot , Muriel Houang , et al.
Sexual Development, 2018, 11 (5-6), pp.293-297. ⟨10.1159/000485909⟩
Journal articles inserm-03837653v1

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.
American Journal of Human Genetics, 2013, 93 (3), pp.561-570. ⟨10.1016/j.ajhg.2013.07.013⟩
Journal articles inserm-03887837v1

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.
Clinical Endocrinology, 2015, 82 (6), pp.876-884. ⟨10.1111/cen.12706⟩
Journal articles istex hal-03884719v1