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A. Molin · SciRah

Researcher profile · Semantic Scholar

A. Molin

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A. Molin — researcher profile on SciRah

h-index: 16
Works: 53
Citations: 840

Most-cited papers

CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.
A. Molin, R. Baudoin, M. Kaufmann, J. Souberbielle +13 more
2015Journal of Clinical Endocrinology and Metabolism125 citations
Semantic Scholar
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
J. Karolak, M. Vincent, G. Deutsch, T. Gambin +68 more
2019American Journal of Human Genetics111 citations Open access
Semantic Scholar
Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.
N. Richard, A. Molin, N. Coudray, Pauline Rault-Guillaume +2 more
2013Journal of Clinical Endocrinology and Metabolism79 citations Open access
Semantic Scholar
Vitamin D–Dependent Rickets Type 1B (25‐Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
A. Molin, A. Wiedemann, N. Demers, M. Kaufmann +13 more
2017Journal of Bone and Mineral Research67 citations Open access
Semantic Scholar
Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25‐(OH)2D3 in Affected Patients
M. Kaufmann, Nicole Morse, Billy J. Molloy, D. Cooper +6 more
2017Journal of Bone and Mineral Research53 citations Open access
Semantic Scholar
Differential diagnosis of vitamin D–related hypercalcemia using serum vitamin D metabolite profiling
M. Kaufmann, Karl P. Schlingmann, L. Berezin, A. Molin +11 more
2021Journal of Bone and Mineral Research39 citations Open access
Semantic Scholar
Cytosolic sequestration of the vitamin D receptor as a therapeutic option for vitamin D-induced hypercalcemia
D. Rovito, A. Belorusova, Sandra Chalhoub, Anna-Isavella Rerra +6 more
2020Nature Communications30 citations Open access
Semantic Scholar
Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D
A. Molin, S. Lemoine, M. Kaufmann, P. Breton +10 more
2021Frontiers in Endocrinology28 citations Open access
Semantic Scholar
Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations
M. Hureaux, A. Molin, N. Jay, A. Saliou +5 more
2018Pediatric nephrology (Berlin, West)23 citations
Semantic Scholar
Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene
C. Billon, A. Molin, C. Poirsier, A. Clémenson +29 more
2020Clinical Genetics21 citations
Semantic Scholar
Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome
L. Marcato, L. Turolla, E. Pompilii, C. Dupont +16 more
2014Clinical Case Reports21 citations Open access
Semantic Scholar
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations
A. Laquérriere, Camille Maillard, M. Cavallin, F. Chapon +10 more
2017Journal of Neuropathology and Experimental Neurology20 citations
Semantic Scholar
Fluconazole as a New Therapeutic Tool to Manage Patients With NPTIIc (SLC34A3) Mutation: A Case Report.
A. Bertholet-Thomas, Nathalie Tram, L. Dubourg, S. Lemoine +2 more
2019American Journal of Kidney Diseases19 citations Open access
Semantic Scholar
Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study
Laurélia Jourdan-Voyen, R. Touraine, J. Masutti, T. Busa +17 more
2019Archives of Disease in Childhood19 citations
Semantic Scholar
Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases
Pénélope Jordan, G. Dorval, Christelle Arrondel, V. Moriniére +25 more
2022Human Mutation17 citations Open access
Semantic Scholar
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome
M. Angelozzi, Anirudha Karvande, A. Molin, Alyssa L. Ritter +44 more
2022Journal of Medical Genetics16 citations Open access
Semantic Scholar
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B
C. Colson, M. Décamp, N. Gruchy, N. Coudray +8 more
2019Bone16 citations Open access
Semantic Scholar
Maternal Transmission Ratio Distortion of GNAS Loss‐of‐Function Mutations
S. Snanoudj, A. Molin, C. Colson, N. Coudray +13 more
2019Journal of Bone and Mineral Research15 citations Open access
Semantic Scholar
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
A. Molin, G. Benoist, C. Jeanne-Pasquier, Nadia Elkartoufi +7 more
2013European Journal of Medical Genetics14 citations
Semantic Scholar
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases
C. Racine, A. Denommé-Pichon, Camille Engel, F. Tran Mau-Them +32 more
2023Journal of Medical Genetics13 citations Open access
Semantic Scholar
Genotype-phenotype description of Vitamin-D Dependent Rickets 1A: CYP27B1 p.(Ala129Thr) variant induces a milder disease.
Marie-Noelle Meaux, J. Harambat, A. Rothenbuhler, J. Léger +14 more
2022Journal of Clinical Endocrinology and Metabolism10 citations
Semantic Scholar
Patients with isolated oligo/hypodontia caused by RUNX2 duplication
A. Molin, S. Lopez-Cazaux, Olivier Pichon, M. Vincent +2 more
2015American Journal of Medical Genetics. Part A10 citations
Semantic Scholar
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders
M. Grelet, Véronique Blanck, S. Sigaudy, N. Philip +17 more
2019Orphanet Journal of Rare Diseases8 citations Open access
Semantic Scholar
10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
C. Messiaen, C. Racine, Ahlem Khatim, L. Soussand +107 more
2021Orphanet Journal of Rare Diseases7 citations Open access
Semantic Scholar
Hyperparathyroidism complicating CYP 24A1 mutations.
Camille Loyer, C. Leroy, A. Molin, M. Odou +9 more
2016Annales d'Endocrinologie7 citations
Semantic Scholar
Fluconazole in hypercalciuric patients with increased 1,25(OH)2D levels: the prospective, randomized, placebo-controlled, double-blind FLUCOLITH trial
A. Bertholet-Thomas, Aurélie Portefaix, S. Flammier, C. Dhelens +9 more
2022Trials6 citations Open access
Semantic Scholar
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 +4 more
2020Journal of Pediatric Urology6 citations Open access
Semantic Scholar
Practice of pathological examinations in stillbirths: A 10-year retrospective study.
F. Jones, P. Thibon, M. Guyot, A. Molin +4 more
2017Journal of Gynecology Obstetrics and Human Reproduction6 citations
Semantic Scholar
Intermittent Bi-Daily Sub-cutaneous Teriparatide Administration in Children With Hypoparathyroidism: A Single-Center Experience
J. Bernardor, S. Flammier, S. Cabet, S. Lemoine +4 more
2021Frontiers in Pediatrics5 citations Open access
Semantic Scholar
Prolonged 25-OH Vitamin D Deficiency Does Not Impair Bone Mineral Density in Adult Patients With Vitamin D 25-Hydroxylase Deficiency (CYP2R1)
A. Wiedemann, E. Renard, A. Molin, G. Weryha +3 more
2020Calcified Tissue International5 citations
Semantic Scholar
Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.
A. Molin, M. Nowoczyn, N. Coudray, Céline Ballandone +6 more
2019European Journal of Medical Genetics5 citations Open access
Semantic Scholar
Calcium pyrophosphate deposition disease revealing a hypersensitivity to vitamin D.
P. Baudart, A. Molin, Johann Césini, Glenville Jones +3 more
2017Joint, bone, spine : revue du rhumatisme5 citations
Semantic Scholar
Prenatal Diagnosis of Aicardi‐Goutières Syndrome: A Sonographic Mimicry of Cytomegalovirus Fetopathy
Zelda Stewart, A. Molin, N. Leporrier, F. Belloy +6 more
2015Journal of ultrasound in medicine5 citations
Semantic Scholar
Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis.
J. Lambert, P. Baudart, A. De Sandre-Giovannoli, A. Molin +1 more
2019Joint, bone, spine : revue du rhumatisme4 citations
Semantic Scholar
Changes in fetal autopsy patterns over a 10-year period
F. Jones, P. Thibon, C. Jeanne-Pasquier, M. Mandon +4 more
2016Archives of Disease in Childhood: Fetal and Neonatal Edition2 citations
Semantic Scholar
Two French Families with Vitamin D Dependency Rickets Type 1B Harbor Homozygous Recessive Expression Of CYP2R1 Mutations L99P and G42_L46DEL INSR
A. Molin, F. Feillet, N. Demers, A. Wiedemann +4 more
20162 citations
Semantic Scholar
SFP CO-32 - Mutation du gène de la 25-hydroxylase (CYP2R1) : une cause rare de rachitisme vitamino-résistant.
A. Wiedemann, A. Molin, L. Mainard, B. Dousset +4 more
20141 citations
Semantic Scholar
Les défauts multiples de l’empreinte sont des évènements rares dans les Pseudohypoparathyroïdies de type 1b (PHP1b) sporadiques
Sacha Weber, A. Molin, Natalie E Sacco, C. Colson +5 more
20200 citations
Semantic Scholar
Ossifications ectopiques et défaut d’éruption dentaire systématisé : un phénotype clinique non rapporté
A. Brun, A. Molin, M. Kottler, F. Vaysse +1 more
20190 citations
Semantic Scholar
Etude des causes génétiques de dérégulation du métabolisme de la vitamine D
A. Molin
20190 citations
Semantic Scholar
P570 : Exploration moléculaire des gènes CYP24A1, SLC34A1 et SLC34A3 dans une cohorte de patients avechypersensibilité à la vitamine D
A. Molin, C. Ballandonne, N. Coudray, L. Parscau +5 more
20180 citations
Semantic Scholar
MOLECULAR STUDY OF A COHORT OF 185 PATIENTS WITH SUSPECTED 25-HYDROXYVITAMIN D 24-HYDROXYLASE DEFICIENCY
A. Molin, P. Breton, Céline Ballandonne, N. Coudray +1 more
20180 citations
Semantic Scholar
[Antenatal diagnosis of an umbilical cord hemangioma].
M. Berar, P. Balouet, C. Chappey, M. Dreyfus +2 more
2018Gynécologie Obstétrique Fertilité & Sénologie0 citations
Semantic Scholar
Hypersensibilité à la vitamine D : étude moléculaire d’une cohorte de 185 patients
A. Molin, P. Breton, C. Ballandonne, N. Coudray +1 more
2018Annales d'Endocrinologie0 citations
Semantic Scholar
Absence d’ostéoporose chez 3 patients porteurs d’un déficit en CYP2R1 (25 hydroxylation de la vitamine D) malgré 17 ans sans traitement
A. Wiedemann, E. Renard, Lea Demarquet, A. Molin +4 more
2018Annales d'Endocrinologie0 citations
Semantic Scholar
Chondrocalcinose articulaire révélant une hypersensibilité à la vitamine D
P. Baudart, A. Molin, J. Cesini, Glenville Jones +3 more
20170 citations
Semantic Scholar
Nouvelle stratégie diagnostique des hypercalcémies idiopathiques
A. Molin, R. Baudoin, M. Vantyghem, M. Castanet +3 more
20140 citations
Semantic Scholar
Loss of Function CYP24A1 Mutations in Patients with Hypercalcemia and Low Pth level: an Autosomal Dominant or Recessive Trait?
A. Molin, R. Baudouin, N. Coudray, M. Figueres +2 more
20140 citations
Semantic Scholar
Recurrent post-surgical hyperparathyroidism: think of CYP 24A1 mutations!
Camille Loyer, C. Leroy, D. Huglo, S. Boury +4 more
20140 citations
Semantic Scholar
Les mutations du gène GNAS situées sur l’allèle d’origine paternelles sont associées à un retard de croissance intra-utérin sévère suggérant un rôle de XL-alpha-s dans le développement fœtal
N. Richard, A. Molin, N. Coudray, G. Abéguilé +1 more
20130 citations
Semantic Scholar

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