L. Mansour-Hendili

发表

Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients

L. Garçon, B. Funalot, I. Radford‐Weiss, 2022, American journal of hematology.

Exome sequencing for diagnosis of congenital hemolytic anemia

N. Costedoat-Chalumeau, B. Funalot, F. Galactéros, 2020, Orphanet Journal of Rare Diseases.

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.

M. Polak, P. Houillier, X. Jeunemaître, 2016, The Journal of clinical endocrinology and metabolism.

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

K. Dahan, P. Houillier, X. Jeunemaître, 2015, Human mutation.

Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation

G. Bouyer, L. Garçon, L. Kiger, 2021, American journal of hematology.

Rapid Gardos Hereditary Xerocytosis Diagnosis in 8 Families Using Reticulocyte Indices

L. Garçon, F. Galactéros, V. Picard, 2021, Frontiers in Physiology.

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

B. Knebelmann, G. Deschênes, S. Lemoine, 2017, Journal of the American Society of Nephrology : JASN.

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

S. Amselem, L. Gouya, A. Clément, 2016, Human molecular genetics.

Germline SFTPA 1 mutation in familial idiopathic interstitial pneumonia and lung cancer

S. Amselem, L. Gouya, A. Clément, 2016 .

CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels

M. Keck, S. Lourdel, J. Teulon, 2014, Pflügers Archiv - European Journal of Physiology.

CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels

A. Blanchard, M. Keck, S. Lourdel, 2013, Pflügers Archiv - European Journal of Physiology.

Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency.

B. Donadille, P. Touraine, C. Dodé, 2016, The Journal of clinical endocrinology and metabolism.

VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis

C. Garel, B. Funalot, F. Galactéros, 2021, American journal of hematology.

Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome

R. Salomon, P. Niaudet, A. Garnier, 2014, BMC Pediatrics.

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis

F. Girodon, H. Cario, A. Gimenez-Roqueplo, 2022, Haematologica.

Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis

M. Carcao, B. Funalot, P. Joly, 2023, British journal of haematology.

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias

S. Amselem, J. Siffroi, N. Collot, 2018, Sexual Development.

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

S. Amselem, L. Gouya, A. Clément, 2016, Human molecular genetics.

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis

T. Haferlach, N. Casadevall, F. Girodon, 2023, Haematologica.

Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis

S. Cunat, J. Schved, P. Aguilar-Martinez, 2018, European journal of haematology.