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Structure: Internal structure identifier : 164454
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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.
Human Mutation, 2018, 39 (3), pp.319-332. ⟨10.1002/humu.23381⟩
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.
Orphanet Journal of Rare Diseases, 2012, 7 (1), pp.96. ⟨10.1186/1750-1172-7-96⟩
Journal articles inserm-00780328v1

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.
Pharmaceutics, 2022, 14 (10), pp.2177. ⟨10.3390/pharmaceutics14102177⟩
Journal articles hal-03842709v1

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.
Molecular Genetics & Genomic Medicine, 2019, 7 (8), pp.e815. ⟨10.1002/mgg3.815⟩
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.
Bone Reports, 2021, 14, pp.101073. ⟨10.1016/j.bonr.2021.101073⟩
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.
American Journal of Medical Genetics Part A, 2023, 191 (2), pp.445-458. ⟨10.1002/ajmg.a.63041⟩
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.
American Journal of Human Genetics, 2012, 91 (5), pp.950 - 957. ⟨10.1016/j.ajhg.2012.10.002⟩
Journal articles hal-01670135v1

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

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.
Human Mutation, 2018, 39 (6), pp.790-805. ⟨10.1002/humu.23428⟩
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

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.
Revue de Stomatologie, de Chirurgie Maxillo-faciale et de Chirurgie Orale, 2016, 117 (1), pp.51-53. ⟨10.1016/j.revsto.2015.11.007⟩
Journal articles hal-03128845v1

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Muriel Holder-Espinasse , Aleksander Jamsheer , Fabienne Escande , Joris Andrieux , Florence Petit , et al.
European Journal of Human Genetics, 2019, 27 (4), pp.525-534. ⟨10.1038/s41431-018-0326-9⟩
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.
Nature Genetics, 2009, 41 (6), pp.746-752. ⟨10.1038/ng.380⟩
Journal articles inserm-00404834v1

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.
Scientific Reports, 2017, 7 (1), pp.3406. ⟨10.1038/s41598-017-03579-y⟩
Journal articles hal-02285453v1

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.
American Journal of Human Genetics, 2019, 104 (2), pp.213-228. ⟨10.1016/j.ajhg.2018.12.010⟩
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.
American Journal of Hematology, 2015, 90 (8), pp.737-738. ⟨10.1002/ajh.24073⟩
Journal articles inserm-02913994v1

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 of Neuromuscular Diseases, 2016, 3 (4), pp.487-495. ⟨10.3233/JND-160177⟩
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.
Nature Communications, 2019, 10 (1), pp.4679. ⟨10.1038/s41467-019-12435-8⟩
Journal articles hal-02336893v1

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.
Clinical Cancer Research, 2012, 18 (10), pp.2976-2786. ⟨10.1158/1078-0432.CCR-11-2797⟩
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.
Frontiers in Endocrinology, 2021, 12, ⟨10.3389/fendo.2021.736240⟩
Journal articles hal-03432717v1

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.
American Journal of Medical Genetics Part A, 2019, 179 (10), pp.2049-2055. ⟨10.1002/ajmg.a.61321⟩
Journal articles hal-02393762v1

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

Ina Schanze , Jens Bunt , Jonathan W.C. Lim , Denny Schanze , Ryan Dean , et al.
American Journal of Human Genetics, 2018, 103 (5), pp.752-768. ⟨10.1016/j.ajhg.2018.10.006⟩
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

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.
Lung Cancer, 2016, 99, pp.38-40. ⟨10.1016/j.lungcan.2016.06.010⟩
Journal articles hal-02423855v1

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.
European Journal of Medical Genetics, 2015, 58 (3), pp.140-147. ⟨10.1016/j.ejmg.2015.01.002⟩
Journal articles hal-02135606v1

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.
International Journal of Food Microbiology, 2002, 76 (1-2), pp.127-134. ⟨10.1016/S0168-1605(02)00023-5⟩
Journal articles istex hal-02087044v1

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
Joint Bone Spine, 2019, 86 (4), pp.525-527. ⟨10.1016/j.jbspin.2018.11.008⟩
Journal articles hal-02393579v1

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.
Leukemia, 2007, 21 (1), pp.121-8. ⟨10.1038/sj.leu.2404410⟩
Journal articles inserm-00348517v1