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Autosomal recessive primary microcephaly due to ASPM mutations: An update
Pascaline Létard
,
Séverine Drunat
,
Yoann Vial
,
Sarah Duerinckx
,
Anais Ernault
et al.
Journal articles
hal-02393637v1
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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing
Martin Krahn
,
Valérie Biancalana
,
Mathieu Cerino
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Aurélien Perrin
,
Laurence Michel-Calemard
et al.
Journal articles
hal-02434896v1
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Serum GH concentration must now be expressed in mass units in France like in the rest of the world
Philippe Chanson
,
Rachel Reynaud
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Régis Coutant
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Agnès Linglart
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Marc Nicolino
et al.
Journal articles
hal-02616910v1
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Corticotroph tumor progression after bilateral adrenalectomy (Nelson’s syndrome): systematic review and expert consensus recommendations
Martin Reincke
,
Adriana Albani
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Guillaume Assie
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Irina Bancos
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Thierry Brue
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Journal articles
hal-03662879v1
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Patients with KCNH1 -related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
Marion Aubert Mucca
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Olivier Patat
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Sandra Whalen
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Lionel Arnaud
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Giulia Barcia
et al.
Journal articles
hal-03244899v1
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Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
Nuria Bramswig
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Aida Bertoli-Avella
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Beate Albrecht
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Aida Al Aqeel
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Amal Alhashem
et al.
Journal articles
hal-01932799v1
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Distinct regulations driving YAP1 expression loss in poroma, porocarcinoma and RB1 ‐deficient skin carcinoma
Thibault Kervarrec
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Eric Frouin
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Christine Collin
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Anne Tallet
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Matthias Tallegas
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Journal articles
hal-04077169v1
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NUT Is a Specific Immunohistochemical Marker for the Diagnosis of YAP1-NUTM1-rearranged Cutaneous Poroid Neoplasms
Nicolas Macagno
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Thibault Kervarrec
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Pierre Sohier
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Brigitte Poirot
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Aurélie Haffner
et al.
Journal articles
hal-03210178v1
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Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants
Pauline Romanet
,
Marie-Francoise Odou
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Marie-Odile North
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Alexandru Saveanu
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Lucie Coppin
et al.
Journal articles
hal-02461447v1
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Severe maternal morbidity in preterm cesarean delivery: A systematic review and meta-analysis
Julie Blanc
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Noémie Rességuier
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Anderson Loundou
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Laurent Boyer
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Pascal Auquier
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Journal articles
hal-03828877v1
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Association of Intravenous Immunoglobulins plus Methylprednisolone vs Immunoglobulins Alone with Course of Fever in Multisystem Inflammatory Syndrome in Children
Naïm Ouldali
,
Julie Toubiana
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Denise Antona
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Étienne Javouhey
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Fouad Madhi
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Journal articles
hal-03171224v1
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Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: Results from the international TOSCA study
Anna C. Jansen
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Elena Belousova
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Mirjana P. Benedik
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Tom Carter
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Vincent Cottin
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Journal articles
hal-03603520v1
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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
Pleuntje van der Sluijs
,
Marieke Joosten
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Caroline Alby
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Tania Attié-Bitach
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Kelly Gilmore
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Journal articles
hal-04102377v1
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Repint of ``Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity
S. Tordjman
,
D. Cohen
,
G. M. Anderson
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M. Botbol
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R. Canitano
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Journal articles
hal-01812461v1
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AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability
Aline Brechet
,
Rebecca Buchert
,
Jochen Schwenk
,
Sami Boudkkazi
,
Gerd Zolles
et al.
Journal articles
hal-02044718v1
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Les mutations du gène NONO sont responsables d’un nouveau syndrome de déficience intellectuelle lié au dysfonctionnement des synapses inhibitrices
Maéva Langouët Langouët
,
Dennis Mircsof
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Marlène Rio
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Jeanne Amiel
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Steven Brown
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Journal articles
hal-02142248v1
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Hyper inflammatory syndrome following COVID-19 mRNA vaccine in children: A national post-authorization pharmacovigilance study
Naim Ouldali
,
Haleh Bagheri
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Francesco Salvo
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Denise Antona
,
Antoine Pariente
et al.
Journal articles
hal-03696532v1
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Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel- Lindau disease spectrum or with paraganglioma
Alexandre Buffet
,
Bruna Calsina
,
Shahida Flores
,
Sophie Giraud
,
Marion Lenglet
et al.
Journal articles
hal-02484923v1
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Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signalling
Elise Marechal
,
Anne Poliard
,
Kilian Henry
,
Mathias Moreno
,
Mathilde Legrix
et al.
2023
Preprints, Working Papers, ...
hal-03809038v1
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The Balance Between Cytotoxic T-cell Lymphocytes and Immune Checkpoint Expression in the Prognosis of Colon Tumors
Laetitia Marisa
,
Magali Svrcek
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Ada Collura
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Etienne Becht
,
Pascale Cervera
et al.
Journal articles
hal-01727817v1
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DUX 4 and DUX4 downstream target genes are expressed in fetal FSHD muscles
M Ferreboeuf
,
V. Mariot
,
B. Bessières
,
A Vasiljevic
,
Tania Attié-Bitach
et al.
18th International Congress of The World Muscle Society, Oct 2013, Pacific Grove, CA, United States. pp.823, ⟨10.1016/j.nmd.2013.06.640⟩
Conference papers
hal-01907613v1
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Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma
Jacques W.M. Lenders
,
Michiel Kerstens
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Laurence Amar
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Aleksander Prejbisz
,
Mercedes Robledo
et al.
Journal articles
hal-02863915v1
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Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis
Océane Landon-Cardinal
,
Diane Friedman
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Marguerite Guiguet
,
Pascal Laforet
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Nicholas Heming
et al.
Journal articles
hal-02377514v1
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Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
Frederic Vely
,
Vincent Barlogis
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Evelyne Marinier
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Marie-Edith Coste
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Beatrice Dubern
et al.
Journal articles
hal-02000323v1
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Lack of Prognostic Value of CTNNB1 Mutation Profile in Desmoid-Type Fibromatosis
Nicolas Penel
,
Sylvie Bonvalot
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André-Michel Bimbai
,
Alexandra Meurgey
,
François Le Loarer
et al.
Journal articles
hal-03925659v1
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Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) on diagnosis of Cushing's syndrome
Antoine Tabarin
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Guillaume Assie
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Pascal Barat
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Fideline Bonnet
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Jean Francois Bonneville
et al.
Journal articles
hal-03604251v1
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault
,
Anne-Marie Guerrot
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Michelle Morrow
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Catherine Schramm
,
Francisca Millan Zamora
et al.
Journal articles
hal-03820933v1
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Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49
Mario Abaji
,
Svetlana Gorokhova
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Nathalie da Silva
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Tiffany Busa
,
Maude Grelet
et al.
Journal articles
hal-03780226v1
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INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
Lauren Mascibroda
,
Mohammad Shboul
,
Nathan Elrod
,
Laurence Colleaux
,
Hanan Hamamy
et al.
Journal articles
hal-03820934v1
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State‐of‐the‐art therapies for Rett syndrome
Nicolas Panayotis
,
Yann Ehinger
,
Marie Solenne Felix
,
Jean‐christophe Roux
Journal articles
hal-03809156v1
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