Search Results - "Touraine, R L"

Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study by Aknin-Seifer, I.E., Touraine, R.L., Lejeune, H., Jimenez, C., Chouteau, J., Siffroi, J.P., McElreavey, K., Bienvenu, T., Patrat, C., Levy, R.

“…BACKGROUND: Recent data emphasized the implication of polymerase γ (POLG) CAG repeats in infertility, making it a very attractive gene for study. A comparison…”
Get full text

The bystander effect in the HSVtk/ganciclovir system and its relationship to gap junctional communication by TOURAINE, R. L, ISHII-MORITA, H, RAMSEY, W. J, BLAESE, R. M

“…The bystander effect (BSE) is an interesting and important property of the herpes thymidine kinase/ganciclovir (hTK/GCV) system of gene therapy for cancer…”
Get full text

Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain by Touraine, Renaud L., Attié-Bitach, Tania, Manceau, Eric, Korsch, Eckhard, Sarda, Pierre, Pingault, Véronique, Encha-Razavi, Féréchté, Pelet, Anna, Augé, Joelle, Nivelon-Chevallier, Annie, Holschneider, Alexander Mathias, Munnes, Marc, Doerfler, Walter, Goossens, Michel, Munnich, Arnold, Vekemans, Michel, Lyonnet, Stanislas

“…Waardenburg syndrome type 4 (WS4), also called Shah-Waardenburg syndrome, is a rare neurocristopathy that results from the absence of melanocytes and intrinsic…”
Get full text

A simple, low cost and non‐invasive method for screening Y‐chromosome microdeletions in infertile men by Aknin‐Seifer, I.E., Touraine, R.L., Lejeune, H., Laurent, J.L., Lauras, B., Levy, R.

“…BACKGROUND: Recent investigations emphasized a high prevalence of Y‐chromosome microdeletions in men having severely impaired spermatogenesis. Screening of…”
Get full text

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia by Mornet, E, Taillandier, A, Peyramaure, S, Kaper, F, Muller, F, Brenner, R, Bussière, P, Freisinger, P, Godard, J, Le Merrer, M, Oury, J F, Plauchu, H, Puddu, R, Rival, J M, Superti-Furga, A, Touraine, R L, Serre, J L, Simon-Bouy, B

“…Hypophosphatasia is an inherited disorder characterised by defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline…”
Get full text

Enhancement of the herpes simplex virus thymidine kinase/ganciclovir bystander effect and its antitumor efficacy in vivo by pharmacologic manipulation of gap junctions by Touraine, R L, Vahanian, N, Ramsey, W J, Blaese, R M

“…Apigenin, a flavinoid, and lovastatin, an HMG-CoA reductase inhibitor, upregulated gap junction (GJ) function and dye transfer in tumors expressing GJ and were…”
Get more information

Hepatic tumours during androgen therapy in Fanconi anaemia by TOURAINE, R. L, BERTRAND, Y, FORAY, P, GILLY, J, PHILIPPE, N

“…The occurrence of liver tumours in the course of Fanconi anaemia (FA) has been well documented. We present a case, review the literature and conclude that…”
Get full text

Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene by Poujois, A, Antoine, J-Ch, Combes, A, Touraine, R L

Get full text

A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient by Touraine, R L, Rolland, M O, Divry, P, Mathieu, M, Guibaud, P, Bozon, D

Get more information

Impaired autonomic control of the heart by SOX10 mutation by Korsch, E, Steinkuhle, J, Massin, M, Lyonnet, S, Touraine, R L

“…The autonomic nervous system plays an important role in the generation of complex heart rate dynamics that enable an organism to adapt to stress. Little is…”
Get full text

Failure of warfarin in treatment of calcinosis universalis by Lassoued, K, Saiag, P, Anglade, M C, Roujeau, J C, Touraine, R L

Get more information

Anuric nephropathies with fatal evolution by DEROT, M, BERNARD, J, TOURAINE, R L

Get more information

Two fast methods for detection of Y-microdeletions by Aknin-Seifer, Isabelle E, Touraine, Renaud L, Faure, Anne-Karen, Fellmann, Florence, Chouteau, Jacques, Levy, Rachel

“…To test two recently available commercial kits: the new Promega Y Chromosome Deletion Detection System 2.0 kit and the Bird-Set kits (Y Chromosome UE and…”
Get more information

Y chromosome microdeletion screening in infertile men in France:a survey of French practice based on 88 IVF centres by Aknin‐Seifer, Isabelle Esther, Lejeune, Hervé, Touraine, Renaud Laurian, Levy, Rachel

“…Y chromosome microdeletion screening is advised in cases of severely impaired spermatogenesis. Improvements in molecular biological techniques have made…”
Get full text

Kaposi's sarcoma and AIDS by Saïag, P, Touraine, R L

Get more information

A simple, low-cost and non-invasive method for screening Y microdeletions in infertile men by Aknin-Seifer, I, Touraine, R-L, Lejeune, H, Laurent, J-L, Lauras, B, Levy, R

“…Recent investigations showed a high prevalence of Y chromosome microdeletions in men with severely impaired spermatogenesis. Screening for these men is…”
Get full text

Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene by Poujois, A, Antoine, J-Ch, Combes, A, Touraine, R L

Get full text

Genetics and hyperphenylalaninemias in 1992 by Touraine, R L, Guibaud, P

“…Hyperphenylalaninemias result from different enzymatic impairment, the most common and best studied which is phenylalanine hydroxylase (PAH) deficiency. The…”
Get more information

Acute renal insufficiency by TOURAINE, R L

Get more information

Recent acquisitions in pneumology for the use of the general practitioner by LESOBRE, R, TOURAINE, R L

Get more information