Výsledky vyhledávání

Récidive d’une dystrophie de Groenouw de type I après photokératectomie thérapeutique

Autor: J.L. Kemeny, I. Creveaux, Daniel F. Schorderet, B. Dastugue, J.-B. Deriot, M.-L. Couleangon, M. Gerard, D. Rigal, F. Pilon, Frédéric Chiambaretta

Publikováno v: Journal Français d'Ophtalmologie. 27:449-456

But La dystrophie corneenne Groenouw de type I est due a des mutations du gene BIGH-3. Transmise selon le mode autosomique dominant, elle se caracterise par la presence de depots stromaux en flocon de neige, superficiels et profonds entrainant une ba

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::25ce4b6721983bea55b69d0b0a2dc441
https://doi.org/10.1016/s0181-5512(04)96164-5

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Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme

Autor: J. Hermabessière, B. Dastugue, D. Boucher, C. Jimenez, I. Creveaux, Geneviève Grizard

Publikováno v: Molecular Human Reproduction. 5:587-593

The present study was undertaken to evaluate the frequency and nature of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in infertile patients undergoing intracytoplasmic sperm injection. A total of 90 patients were s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::101e990c8158904c54c91d0b77679991
https://doi.org/10.1093/molehr/5.6.587

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Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method

Autor: Catherine Boileau, N. Loux, B. Saint-Jore, F. Dairou, Truffert J, J. L. de Gennes, Claudine Junien, P. Douste-Blazy, B. Dastugue, Benlian P, G. Collod

Publikováno v: Hum Mutat
Hum Mutat, 1992, 1 (4), pp.325-32. ⟨10.1002/humu.1380010411⟩

To investigate the molecular basis of familial hypercholesterolemia (FH) in France, we applied the single strand conformation polymorphism (SSCP) method to the promoter region and the 18 exons of the low density lipoprotein receptor (LDLR) gene. Seve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cba04b173b8e3a68554abba9731c4457
https://doi.org/10.1002/humu.1380010411

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[Evaluation of rapid, semi-quantitative assay of C-reactive protein in whole blood, Actim CRP]

Autor: B, Evrard, L, Roszyk, S, Fattal, B, Dastugue, V, Sapin

Publikováno v: Annales de biologie clinique. 63(5)

We evaluated a rapid and semi-quantitative C-Reactive Protein test on whole blood, the Actim CRP (Fumouze). Based on immuno-chromatography technology, this test ranked the blood sample in four groups:10 mg/L, 10-40 mg/L, 40-80 mg/L and80 mg/L. This e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::04426b582eec544b31f6e4f233475609
https://pubmed.ncbi.nlm.nih.gov/16230290

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[Outcome of hyperlactatemia and lipodystrophy syndromes in patients infected with human immunodeficiency virus]

Autor: G, Marceau, C, Jacomel, S, Ughetto, L, Roszyk, B, Dastugue, H, Laurichesse, V, Sapin

Publikováno v: Annales de biologie clinique. 62(4)

HIV-positive persons requiring a highly active antiretroviral therapy containing one or more nucleosidic reverse transcriptase inhibitors associated with or without protease inhibitors are exposed to metabolic side effects among which lipodystrophy a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7a6d43aa92e5f1d06af3490a888decb6
https://pubmed.ncbi.nlm.nih.gov/15297245

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[Early recurrence of Groenouw type I corneal dystrophy after phototherapeutic keratectomy. Molecular biology study suggests epithelial genesis]

Autor: F, Chiambaretta, F, Pilon, J-B, Deriot, M, Gerard, M-L, Couleangon, D F, Schorderet, J-L, Kemeny, B, Dastugue, I, Creveaux, D, Rigal

Publikováno v: Journal francais d'ophtalmologie. 27(5)

Granular corneal dystrophy Groenouw type 1 (GGI) is a rare autosomal dominant disease caused by allelic mutations of the BIGH3 gene. The specific phenotype is characterized by granular opacities (white, sharply demarcated spots resembling bread crumb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::962bdbee903fba1cb05ce3249043ac0e
https://pubmed.ncbi.nlm.nih.gov/15179300

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Hyperlactatemia and HIV-infected Patients with Nucleoside Analog Reverse-transcriptase Inhibitors Treatment: the Clermont HIV Cohort Study

Autor: C. Boniol, L. Cormerai, O. Boespflug-Tanguy, V. Sapin, G. Marceau, B. Dastugue, J. Beytout, Hélène Laurichesse, C. Jacomet

Publikováno v: Mitochondrial Disorders ISBN: 9782817809311

Severe lactic acidosis is a rare but potentially fatal metabolic complication of treatment of HIV-infected patients with nucleoside analog reverse transcriptase inhibitors (NTRIs). This disorder associated with lactic acid metabolism was firstly repo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a295ae0d171cbb232f03ee8737e0a049
https://doi.org/10.1007/978-2-8178-0929-8_12

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Use of transgenic mice model for understanding the placentation: towards clinical applications in human obstetrical pathologies?

Autor: V, Sapin, L, Blanchon, A F, Serre, D, Lémery, B, Dastugue, S J, Ward

Publikováno v: Transgenic research. 10(5)

The mammalian embryo and fetus are unable to develop without a well-established, functional placenta. This transitory yet indispensable structure attaches the conceptus to the uterus and establishes the vascular connections necessary for nutrient and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::de0b30940bf75fb38270a849f604aeea
https://pubmed.ncbi.nlm.nih.gov/11708649

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Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease

Autor: F, Cailloux, F, Gauthier-Barichard, C, Mimault, V, Isabelle, V, Courtois, G, Giraud, B, Dastugue, O, Boespflug-Tanguy

Publikováno v: European journal of human genetics : EJHG. 8(11)

Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2 (SPG2) are X-linked developmental defects of myelin formation affecting the central nervous system (CNS). They differ clinically in the onset and severity of the motor disability but bo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f5b81dda4d3f69e3a85a60dd06a854da
https://pubmed.ncbi.nlm.nih.gov/11093273

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