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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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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.
David Cheillan
,
Marie Joncquel-Chevalier Curt
,
Gilbert Briand
,
Gajja Salomons
,
Karine Mention-Mulliez
,
et al.
Journal articles
inserm-00780328v1
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An Investigation of O-Demethyl Tramadol/Tramadol Ratio for Cytochrome P450 2D6 Phenotyping: The CYTRAM Study
Blandine de la Gastine
,
Soizic Percevault
,
Laurent Varin
,
Nicolas Richard
,
Fabienne Fobe
,
et al.
Journal articles
hal-03842709v1
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Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome
Sarah Snanoudj
,
Patrick Mordel
,
Quentin Dupas
,
Cécile Schanen
,
Alina Arion
,
et al.
Journal articles
hal-02394273v1
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A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family
Andreea Apetrei
,
Arnaud Molin
,
Nicolas Gruchy
,
Manon Godin
,
Claire Bracquemart
,
et al.
Journal articles
hal-03283891v1
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1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients
Clémence Jacquin
,
Emilie Landais
,
Céline Poirsier
,
Alexandra Afenjar
,
Ahmad Akhavi
,
et al.
Journal articles
hal-03899297v1
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Identification by whole genome sequencing of a 140Kb inversion in GNAS locus involving NPELP1 and Xlas gene in a family presenting an autosomal dominant pseudohypoparathyroidism type 1b
Andreea Apetrei
,
Arnaud Molin
,
Cindy Colson
,
H. Mittre
,
Matthieu Decamp
,
et al.
Assise de génétique Humaine et Médicale 2020, Jan 2020, Tours, France
Conference poster
hal-03283983v1
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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Virginie Carmignac
,
Julie Thevenon
,
Lesley Ades
,
Bert Callewaert
,
Sophie Julia
,
et al.
Journal articles
hal-01670135v1
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P570 : Exploration moléculaire des gènes CYP24A1, SLC34A1 et SLC34A3 dans une cohorte de patients avechypersensibilité à la vitamine D
Arnaud Molin
,
Céline Ballandonne
,
Nadia Coudray
,
Loic de Parscau
,
Xavier Parent
,
et al.
9ème Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France
Conference poster
hal-02391900v1
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Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature
Marie-Laure Vuillaume
,
Marie-Pierre Moizard
,
Sylvie Rossignol
,
Edouard Cottereau
,
Sandrine Vonwill
,
et al.
Journal articles
hal-02393015v1
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Syndrome Tricho-rhino-phalangien de type I: description clinique et moléculaire chez 15 cas non apparentés
Alexia Bourgois
,
Varoona Bizaoui
,
Kara Ranguin
,
Thibaud Armand
,
Stéphanie Arpin
,
et al.
10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France
Conference poster
hal-03213023v1
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Facial features in Harlequin ichthyosis: Clinical findings about 4 cases
J.-D. Kün-Darbois
,
A. Molin
,
C. Jeanne-Pasquier
,
A. Pare
,
H. Bénateau
,
et al.
Journal articles
hal-03128845v1
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Duplication of 10q24 locus: broadening the clinical and radiological spectrum
Muriel Holder-Espinasse
,
Aleksander Jamsheer
,
Fabienne Escande
,
Joris Andrieux
,
Florence Petit
,
et al.
Journal articles
hal-02268426v1
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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Xavier Hubert Jaglin
,
Karine Poirier
,
Yoann Saillour
,
Emmanuelle Buhler
,
Guoling Tian
,
et al.
Journal articles
inserm-00404834v1
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P040 : TANC2 : un nouveau gène responsable de troubles neuro développementaux ?
Cindy Colson
,
Manon Godin
,
Matthieu Decamp
,
Joris Andrieux
,
Hervé Mittre
,
et al.
9ème Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France. 2018
Conference poster
hal-02391846v1
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Enhanced chondrogenesis of bone marrow-derived stem cells by using a combinatory cell therapy strategy with BMP-2/TGF-β1, hypoxia, and COL1A1/HtrA1 siRNAs
Florence Legendre
,
David Ollitrault
,
Tangni Gómez-Leduc
,
Mouloud Bouyoucef
,
Magalie Hervieu
,
et al.
Journal articles
hal-02285453v1
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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Justyna A. Karolak
,
Marie Vincent
,
Gail Deutsch
,
Tomasz Gambin
,
Benjamin Cogne
,
et al.
Journal articles
hal-02461467v1
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Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosis
Charles Herbaux
,
Nicolas Duployez
,
Catherine Badens
,
Nicolas Poret
,
Claude Gardin
,
et al.
Journal articles
inserm-02913994v1
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Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients
Sarah Grotto
,
Jean-Marie Cuisset
,
Stéphane Marret
,
Séverine Drunat
,
Patricia Faure
,
et al.
Journal articles
hal-02452334v1
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
Hui Guo
,
Elisa Bettella
,
Paul Marcogliese
,
Rongjuan Zhao
,
Jonathan Andrews
,
et al.
Journal articles
hal-02336893v1
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An apoptosis methylation prognostic signature for early lung cancer in the IFCT-0002 trial.
Florence de Fraipont
,
Guénaëlle Levallet
,
Christian Creveuil
,
Emmanuel Bergot
,
Michèle Beau-Faller
,
et al.
Journal articles
hal-00718845v1
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Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D
Arnaud Molin
,
Sandrine Lemoine
,
Martin Kaufmann
,
Pierre Breton
,
Marie Nowoczyn
,
et al.
Journal articles
hal-03432717v1
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HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals
Deepika d'Cunha Burkardt
,
Anna Zachariou
,
Chey Loveday
,
Clare Allen
,
David Amor
,
et al.
Journal articles
hal-02393762v1
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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly
Ina Schanze
,
Jens Bunt
,
Jonathan W.C. Lim
,
Denny Schanze
,
Ryan Dean
,
et al.
Journal articles
hal-01999378v1
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Caractérisation phénotypique et génotypique des réarrangements chromosomiques en 1q21.1: description d'une nouvelle cohorte de 34 patients et revue de la littérature
Alexia Bourgois
,
Marion Gérard
,
Varoona Bizaoui
,
Cindy Colson
,
Aline Vincent
,
et al.
11e Assises de Génétique Humaine et Médicale, Feb 2022, Rennes, France.
Conference poster
hal-03640241v1
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Identification of I1171N resistance mutation in ALK-positive non-small-cell lung cancer tumor sample and circulating tumor DNA
Alison Johnson
,
Pascal Do
,
Nicolas Richard
,
Catherine Dubos
,
Jean Jacques Michels
,
et al.
Journal articles
hal-02423855v1
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15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients
Clémence Vanlerberghe
,
Florence Petit
,
Valérie Malan
,
Catherine Vincent-Delorme
,
Sonia Bouquillon
,
et al.
Journal articles
hal-02135606v1
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Intra-species chromosome-length polymorphism in Geotrichum candidum revealed by pulsed field gel electrophoresis.
Stéphanie Gente
,
Nathalie N. Desmasures
,
Cyril Jacopin
,
Ghislaine Plessis
,
Martine Beliard
,
et al.
Journal articles
istex
hal-02087044v1
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Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis
Julie-Charlotte Lambert
,
Pauline Baudart
,
Annachiara de Sandre-Giovannoli
,
Arnaud Molin
,
Christian Marcelli
Journal articles
hal-02393579v1
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Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRbeta-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique.
Barbara Cauwelier
,
Hélène Cavé
,
Carine Gervais
,
Michel Lessard
,
Carole Barin
,
et al.
Journal articles
inserm-00348517v1
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