A novel mutation 3090 G > A of the mitochondrial 16S ribosomal RNA associated with myopathy

Autor: Philippe Jauzac, Anne Lombès, Marie-Hélène Read, Françoise Chapon, N. Leporrier, A. Mouadil, Stéphane Schaeffer, B. Deslandes, Stéphane Allouche, D. Herlicoviez, Laurent Coulbault

Publikováno v: Biochemical and Biophysical Research Communications. 362:601-605

We describe a young woman who presented with a progressive myopathy since the age of 9. Spectrophotometric analysis of the respiratory chain in muscle tissue revealed combined and profound complex I, III, II + III, and IV deficiency ranging from 60%

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de00ad421adfa18457b415a18540b8b1
https://doi.org/10.1016/j.bbrc.2007.08.040

Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases

Autor: N, Gruchy, F, Vialard, E, Blondeel, N, Le Meur, G, Joly-Hélas, P, Chambon, M, Till, M, Herbaut-Graux, A, Vigouroux-Castera, A, Coussement, J, Lespinasse, F, Amblard, M, Jimenez, L, Lebel Roy Camille, F, Carré-Pigeon, E, Flori, F, Mugneret, S, Jaillard, C, Yardin, R, Harbuz, M, Collonge Rame, P, Vago, M, Valduga, N, Leporrier

Publikováno v: Prenatal Diagnosis
Prenatal Diagnosis, Wiley, 2014, 34 (12), pp.1133-8. ⟨10.1002/pd.4439⟩
Prenatal Diagnosis, 2014, 34 (12), pp.1133-8. ⟨10.1002/pd.4439⟩

International audience; The objectives of this study were to report pregnancy outcomes after prenatal diagnosis of Turner syndrome (TS) and to compare and assess termination of pregnancy rates during two periods. The intervals selected were before an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a83182b4e21c9df4ca8891c15e723a2f
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01116593

Fifteen new mutations (-195CT, L-12X, 298-2AG, T117N, A159T, R229S, 997+2TA, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

Autor: A, Taillandier, E, Cozien, F, Muller, Y, Merrien, E, Bonnin, C, Fribourg, B, Simon-Bouy, J L, Serre, E, Bieth, R, Brenner, M P, Cordier, S, De Bie, F, Fellmann, P, Freisinger, V, Hesse, R C, Hennekam, D, Josifova, L, Kerzin-Storrar, N, Leporrier, M T, Zabot, E, Mornet

Publikováno v: Human mutation. 15(3)

Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and liver/bone/kidney-type alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1d17aed1850152d5cb962a92c75bd886
https://pubmed.ncbi.nlm.nih.gov/10679946

A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

Autor: H, Mittre, A, Bahlous, N, Leporrier, P, Leymarie

Publikováno v: Human mutation. 14(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9f6c8cebfb69b8ffc9b2b0c707ccd0ef
https://pubmed.ncbi.nlm.nih.gov/10425081

Anomalies des Secretions des Vesicules Seminales et Fecondation in Vitro

Autor: M. A. Drosdowsky, N. Leporrier, J. Izard, I. Denis, A. Sauvalle, M. Herlicoviez, E. Szerman-Joly, D. Herlicoviez

Publikováno v: Andrologie. 1:66-66

Nous avons examine les resultats de FIV pour des couples ou l’homme presentait comme seule anomalie du sperme un faible taux de fructose. Le taux de segmentation des ovocytes tout comme le taux de grossesse n’est pas different dans ce groupe comp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fa39e3af9284d6b5765771a0325552c8
https://doi.org/10.1007/bf03034172