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3q29 duplications: A cohort of 46 patients and a literature review
Marie Massier
,
Martine Doco-Fenzy
,
Matthieu Egloff
,
Xavier Le Guillou
,
Gwenaël Le Guyader
Article dans une revue
hal-04488411v1
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Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
Alexia Bourgois
,
Varoona Bizaoui
,
Cindy Colson
,
Aline Vincent-Devulder
,
Arnaud Molin
Article dans une revue
hal-04273045v1
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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
Article dans une revue
hal-03283891v1
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Intermittent Bi-Daily Sub-cutaneous Teriparatide Administration in Children With Hypoparathyroidism: A Single-Center Experience
Julie Bernardor
,
Sacha Flammier
,
Sara Cabet
,
Sandrine Lemoine
,
Roland Chapurlat
Article dans une revue
hal-03468273v1
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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
Article dans une revue
hal-03432717v1
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Differential diagnosis of vitamin D‐related hypercalcemia using serum vitamin D metabolite profiling
Martin Kaufmann
,
Karl‐peter Schlingmann
,
Linor Berezin
,
Arnaud Molin
,
Jesse Sheftel
Article dans une revue
hal-03218618v1
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The interest of oral calcium loads test in the diagnosis and management of pediatric nephrolithiasis with hypercalciuria: Experience from a tertiary pediatric centre
M. Mosca
,
A. Bertholet-Thomas
,
S. Lemoine
,
C. Garnier
,
C. Machon
Article dans une revue
hal-02901934v1
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Cytosolic sequestration of the vitamin D receptor as a therapeutic option for vitamin D-induced hypercalcemia
Daniela Rovito
,
Anna y Belorusova
,
Sandra Chalhoub
,
Anna-Isavella Rerra
,
Elvire Guiot
Article dans une revue
hal-03193197v1
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Fluconazole as a New Therapeutic Tool to Manage Patients With NPTIIc (SLC34A3) Mutation: A Case Report
A. Bertholet-Thomas
,
N. Tram
,
L. Dubourg
,
S. Lemoine
,
A. Molin
Article dans une revue
hal-02195305v1
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Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study
L. Jourdan-Voyen
,
R. Touraine
,
J. P. Masutti
,
T. Busa
,
C. Vincent-Delorme
Article dans une revue
hal-02465924v1
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High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B
Cindy Colson
,
Matthieu Decamp
,
Nicolas Gruchy
,
Nadia Coudray
,
Céline Ballandonne
Article dans une revue
hal-02267572v1
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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
Article dans une revue
hal-02393579v1
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Association between night-time surgery and occurrence of intraoperative adverse events and postoperative pulmonary complications
C. Gregoretti
,
A.S. Neto
,
L. Ball
,
M.F.V. Melo
,
C. Putensen
Article dans une revue
hal-02936793v1
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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
Article dans une revue
hal-02461467v1
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Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations
Marguerite Hureaux
,
Arnaud Molin
,
Nadine Jay
,
Anne Hélène Saliou
,
Emmanuel Spaggiari
Article dans une revue
hal-02392766v1
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Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia
Arnaud Molin
,
Marie Nowoczyn
,
Nadia Coudray
,
Céline Ballandonne
,
Geneviève Abeguilé
Article dans une revue
hal-02272241v1
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Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D
Pauline Baudart
,
Arnaud Molin
,
Johann Cesini
,
Glenville Jones
,
Martin Kaufmann
Article dans une revue
hal-02154837v1
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Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations
Annie Laquerrière
,
Camille Maillard
,
Mara Cavallin
,
Françoise Chapon
,
Florent Marguet
Article dans une revue
hal-02304847v1
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Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
Arnaud Molin
,
Arnaud Wiedemann
,
Nick Demers
,
Martin Kaufmann
,
Jérémy Do Cao
Article dans une revue
hal-02154934v1
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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
Article dans une revue
hal-03128845v1
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Patients with isolated oligo/hypodontia caused by RUNX2 duplication
Arnaud Molin
,
Serena Lopez-Cazaux
,
Olivier Pichon
,
Marie Vincent
,
Bertrand Isidor
Article dans une revue
hal-02517083v1
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CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait
A. Molin
,
R. Baudoin
,
M. Kaufmann
,
J. Souberbielle
,
A. Ryckewaert
Article dans une revue
hal-02423834v1
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