Search Results - "Badens, C"

New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration by Allegrini, B., Jedele, S., David Nguyen, L., Mignotet, M., Rapetti-Mauss, R., Etchebest, C., Fenneteau, O., Loubat, A., Boutet, A., Thomas, C., Durin, J., Petit, A., Badens, C., Garçon, L., Da Costa, L., Guizouarn, H.

“…The K + channel activated by the Ca 2+ , KCNN4, has been shown to contribute to red blood cell dehydration in the rare hereditary hemolytic anemia, the…”
Get full text

Health status and quality of life in β-thalassemia adults in Marseille, France by Soubrier, C, Jean, E, De Sainte Marie, B, Agouti, I, Seguier, J, Lavoipierre, V, Clapasson, C, Iline, N, Gonin, J, Giorgi, R, Schleinitz, N, Thuret, I, Badens, C, Bernit, E

“…The life expectancy of β-thalassemia patients has increased over the last 20 years. In this study, we evaluated the current health status and quality of life…”
Get full text

Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review by Chavany, J., Cano, A., Roquelaure, B., Bourgeois, P., Boubnova, J., Gaignard, P., Hoebeke, C., Reynaud, R., Rhomer, B., Slama, A., Badens, C., Chabrol, B., Fabre, A.

“…Acute liver failure (ALF) in childhood is a life-threatening emergency. ALF is often caused by drug toxicity, autoimmune hepatitis, inherited metabolic…”
Get full text

Primary red cell hydration disorders: Pathogenesis and diagnosis by Caulier, A., Rapetti‐Mauss, R., Guizouarn, H., Picard, V., Garçon, L., Badens, C.

“…Hydration status is critical for erythrocyte survival and is mainly determined by intracellular cation content. Active pumps, passive transporters, and ion…”
Get full text

NISCH syndrome, a rare cause of neonatal cholestasis: A case report by Szepetowski, S, Lacoste, C, Mallet, S, Roquelaure, B, Badens, C, Fabre, A

“…NISCH syndrome is a rare autosomal recessive disease. It is characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and neonatal sclerosing…”
Get full text

Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome by Lacoste, C., Leheup, B., Agouti, I., Mowat, D., Giuliano, F., Badens, C.

Get full text

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment by Thauvin-Robinet, C, Thomas, S, Sinico, M, Aral, B, Burglen, L, Gigot, N, Dollfus, H, Rossignol, S, Raynaud, M, Philippe, C, Badens, C, Touraine, R, Gomes, C, Franco, B, Lopez, E, Elkhartoufi, N, Faivre, L, Munnich, A, Boddaert, N, Maldergem, L Van, Encha-Razavi, F, Lyonnet, S, Vekemans, M, Escudier, E, Attié-Bitach, T

Get full text

In utero seizures revealing dentato‐olivary dysplasia caused by SCN2A mutation by Sauvestre, F., Moutton, S., Badens, C., Broussin, B., Carles, D., Houcinat, N., Lacoste, C., Marguet, F., Pecheux, C., Villard, L., Pelluard, F., Laquerrière, A., André, G.

Get full text

Next-generation DNA sequencing in clinical diagnostics by Lacoste, C, Fabre, A, Pécheux, C, Lévy, N, Krahn, M, Malzac, P, Bonello-Palot, N, Badens, C, Bourgeois, P

“…The advent of next generation sequencing (NGS) technologies is so scale-changing that it modifies molecular diagnostics indications and induces laboratories to…”
Get full text

Analytical evaluation of the Capillarys 2 Flex piercing for routine haemoglobinopathies diagnosis by Agouti, I., Merono, F., Bonello-Palot, N., Badens, C.

“…Summary To evaluate the analytical performance of a new capillary electrophoresis instrument, the Capillarys 2 Flex piercing (Sebia, France), allowing the…”
Get full text

Severe neonatal seizures: From molecular diagnosis to precision therapy? by Milh, M., Cacciagli, P., Ravix, C., Badens, C., Lépine, A., Villeneuve, N., Villard, L.

“…Early onset epileptic encephalopathies (EOEE) are heterogeneous group of severe epilepsies that still need to be better defined and characterized. On a genetic…”
Get full text

The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA by Kirk, EP, Malaty-Brevaud, V, Martini, N, Lacoste, C, Levy, N, Maclean, K, Davies, L, Philip, N, Badens, C

Get full text

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation by Corbani, S., Chouery, E., Fayyad, J., Fawaz, A., El Tourjuman, O., Badens, C., Lacoste, C., Delague, V., Megarbane, A.

“…Background  Rett syndrome (RTT), an X‐linked, dominant, neurodevelopment disorder represents 10% of female subjects with profound intellectual disability…”
Get full text

Information for parents of children with sickle cell trait detected by neonatal screening: A 10-year experience by Joly, P, Badens, C, Fekih, S, Philippe, N, Merono, F, Thuret, I, Pondarré, C

Get full text

A novel mechanism for thalassaemia intermedia by Badens, C, Mattei, MG, Imbert, AM, Lapouméroulie, C, Martini, N, Michel, G, Lena-Russo, D

“…Thalassaemia intermedia is a moderate form of thalassaemia resulting from various genetic defects. We report an undescribed mechanism leading to this…”
Get full text

B013 Genetic polymorphisms of the lamina maturation pathway and their association with the metabolic syndrome: the desir prospective study by Fontaine-Bisson, B, Alessi, M.-C, Saut, N, Fumeron, F, Marre, M, Dutour, A, Badens, C, Levy, N, Tichet, J, Juhan-Vague, I, Tregouet, D.-A, Balkau, B, Morange, P.-E

“…Aims/hypothesis Laminopathies are rare monogenic diseases, some of them exhibiting features of the metabolic syndrome. These diseases are mainly due to…”
Get full text

Outcome of a school screening programme for carriers of haemoglobin disease by Lena-Russo, D, Badens, C, Aubinaud, M, Merono, F, Paolasso, C, Martini, N, Mattei, J F

“…To assess the impact of a screening programme for haemoglobinopathies which was organised from 1978 to 1985 in high secondary schools of the Marseille region…”
Get more information

Dépistage néonatal de la drépanocytose au CHU de Nice : bilan des 8 dernières années by Berthet, S., Monpoux, F., Soummer, A.-M., Bérard, E., Sarles, J., Badens, C.

“…Le dépistage de la drépanocytose, la plus fréquente des hémoglobinopathies de transmission autosomique récessive, permet la détection des syndromes…”
Get full text

PRO58 CLINICAL AND ECONOMIC BURDEN OF TRANSFUSION-DEPENDENT BETA-THALASSEMIA IN FRANCE: A RETROSPECTIVE ANALYSIS OF THE FRENCH NATIONAL HEALTH DATA SYSTEM (SNDS) by Brousse, V., Badens, C., Quignot, N., Qi, L., Gatta, F., Paramore, C., Undreiner, L.

Get full text

New nonsense mutation (p.E250X) in the tyrosinase gene of a patient with oculocutaneous albinism type 1A by Aquaron, R, Hesse, S, Badens, C, Bonerandi, J-J

Get full text