SODIUM- AND POTASSIUM-DEPENDENT ADENOSINE TRIPHOSPHATASE OF ELECTRIC ORGAN: INTERACTION WITH OUABAIN IN SITU, IN A MEMBRANE FRACTION, AND IN THE SOLUBILIZED FORM.ZUBLER FAIVRE L; DUNANT Y.1976; MOLEC. PHARMACOL.; U.S.A.; DA. 1976; VOL. 12; NO 6; PP. 1007-1018; BIBL. 27 REF.Article

DERIVES C-GLYCOSYLIQUES. XIV. SYNTHESE DE GLYCOSYL-5-DELTA ₂-ISOXAZOLINESTRONCHET JMJ; JACCARD THORNDAHL S; FAIVRE L et al.1973; HELV. CHIM. ACTA; SUISSE; DA. 1973; VOL. 56; NO 4; PP. 1303-1309; ABS. ANGL.; BIBL. 18 REF.Serial Issue

Maîtrise de l'énergie dans les collectivités locales : recueil d'expériences = Energy control in local authorities. A set of experiencesFAIVRE, L; TESSIER, P.Cahiers du Centre scientifique et technique du bâtiment. 2000, Num 3259, issn 0008-9850, 29 p., Livraison 413, Etudes et RecherchesArticle

A Prenatal Case of Inverted Duplication With Terminal Deletion of 5p Not Including the Cat-Like Cry Critical RegionMOSCA, A. L; CALLIER, P; SAGOT, P et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 8, pp 2031-2034, issn 1552-4825, 4 p.Article

Les tests génétiques présymptomatiques chez le mineur: enquête auprès des généticiens français et position du groupe français de génétique prédictive = Genetic testing in asymptomatic minors: A survey among French geneticistsJOLY, L; THAUVIN-ROBINET, C; HERON, D et al.Archives de pédiatrie (Paris). 2010, Vol 17, Num 7, pp 1000-1007, issn 0929-693X, 8 p.Article

Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutationsSOLE, G; COUPRY, I; FAIVRE, L et al.Journal of neurology, neurosurgery and psychiatry. 2009, Vol 80, Num 12, pp 1394-1398, issn 0022-3050, 5 p.Article

Detection of an Interstitial 3q21.1-q21.3 Deletion in a Child With Multiple Congenital Abnormalities, Mental Retardation, Pancytopenia, and MyelodysplasiaCALLIER, P; FAIVRE, L; HUET, F et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 6, pp 1323-1326, issn 1552-4825, 4 p.Article

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies : an international study of 1009 probandsFAIVRE, L; COLLOD-BEROUD, G; STHENEUR, C et al.Journal of medical genetics. 2008, Vol 45, Num 6, pp 384-390, issn 0022-2593, 7 p.Article

Array-CGH in a Series of 30 Patients With Mental Retardation, Dysmorphic Features, and Congenital Malformations Detected an Interstitial 1p22.2-p31.1 Deletion in a Patient With Features Overlapping the Goldenhar SyndromeCALLIER, P; FAIVRE, L; TEYSSIER, J . R et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 16, pp 2109-2115, issn 1552-4825, 7 p.Article

Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip-palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24)CALLIER, P; FAIVRE, L; LE MERRER, M et al.European journal of medical genetics. 2007, Vol 50, Num 6, pp 455-464, issn 1769-7212, 10 p.Article

Les ataxies spinocérébelleuses = Spinocerebellar ataxiasTHAUVIN-ROBINET, C; FAIVRE, L; CAZENEUVE, C et al.La Lettre du neurologue. 2013, Num 8, pp 234-239, issn 1276-9339, 6 p.Article

What can we learn from old microdeletion syndromes using array-CGH screening?MOSCA-BOIDRON, A. L; BOUQUILLON, S; MANOUVRIER-HANU, S et al.Clinical genetics. 2012, Vol 82, Num 1, pp 41-47, issn 0009-9163, 7 p.Article

Cytogenetic and Array-CGH Characterization of a 6q27 Deletion in a Patient With Developmental Delay and Features of Ehlers—Danlos SyndromeMOSCA, A. L; CALLIER, P; MUGNERET, F et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 5, pp 1314-1317, issn 1552-4825, 4 p.Article

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screeningTHAUVIN-ROBINET, C; MUNCK, A; CLAUSTRES, M et al.Journal of medical genetics. 2009, Vol 46, Num 11, pp 752-758, issn 0022-2593, 7 p.Article

Tubulopathy and pancytopaenia with normal pancreatic function : A variant of Pearson syndromeATALE, Agnès; BONNEAU-AMATI, Patrizia; MUNNICH, A et al.European journal of medical genetics. 2009, Vol 52, Num 1, pp 23-26, issn 1769-7212, 4 p.Article

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasiaZANNI, G; SAILLOUR, Y; RODRIGUEZ, D et al.Neurology. 2005, Vol 65, Num 9, pp 1364-1369, issn 0028-3878, 6 p.Article

Spectrum of NSD1 mutations in Sotos and Weaver syndromesRIO, M; CLECH, L; RAOUL, O et al.Journal of medical genetics. 2003, Vol 40, Num 6, pp 436-440, issn 0022-2593, 5 p.Article

Acromicric dysplasia : long term outcome and evidence of autosomal dominant inheritanceFAIVRE, L; LE MERRER, M; RUSSELL, K et al.Journal of medical genetics. 2001, Vol 38, Num 11, pp 745-749, issn 0022-2593Article

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speechBONNET, C; ANDRIEUX, J; THIRIEZ, G et al.Journal of medical genetics. 2010, Vol 47, Num 6, pp 377-384, issn 0022-2593, 8 p.Article

Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome : Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major CriterionFAIVRE, L; COLLOD-BEROUD, G; KIOTSEKOGLOU, A et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 5, pp 854-860, issn 1552-4825, 7 p.Article

The adolescent and adult form of cobalamin C disease : clinical and molecular spectrumTHAUVIN-ROBINET, C; ROZE, E; MOREAU, T et al.Journal of neurology, neurosurgery and psychiatry. 2008, Vol 79, Num 6, pp 725-728, issn 0022-3050, 4 p.Article

Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndromeCALLIER, P; FAIVRE, L; MUGNERET, F et al.American journal of medical genetics. 2005, Vol 137A, Num 2, pp 204-207, issn 0148-7299, 4 p.Article

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotypeFAIVRE, L; CORMIER-DAIRE, V; PRIEUR, M et al.Journal of medical genetics. 2002, Vol 39, Num 8, pp 594-596, issn 0022-2593Article

Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4qFAIVRE, L; RADFORD, I; VIOT, G et al.Annales de génétique (Paris). 2000, Vol 43, Num 1, pp 35-38, issn 0003-3995Article

Improvement of cystic fibrosis using antitumoral drugs : a hypothesisFAIVRE, L; BONNEFONT, J.-P; LYONNET, S et al.Medical hypotheses. 2000, Vol 54, Num 4, pp 580-581, issn 0306-9877Article