Annales de Génétique

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ISSN : 0003-3995
Published by: Elsevier BV (10.1016)
Total articles ≅ 1,910
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Tina M. Caserta, Alyssa A. Knisley, Filemon K. Tan, Frank C. Arnett,
Published: 31 December 2004
Annales de Génétique, Volume 47, pp 359-363; https://doi.org/10.1016/j.anngen.2004.07.003

Abstract:
Transforming growth factor beta (TGFβ) is a secreted protein present in the circulation and is a critical regulator of the body's immune system. TGFβ is believed to control several components of the immune system and inhibit autoimmune reactions. Systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS) are prototypical human autoimmune diseases characterized by the circulating autoantibodies directed against nuclear antigens and immune complex deposition in various tissues leading to target organ inflammation and damage. Although the etiology of SLE is unknown, it has been observed that patients with SLE have lower levels of circulating TGFβ than healthy individuals. In addition, mice lacking the TGFβ1 gene develop a severe autoimmune disease that has features of both SS and SLE. Polymorphisms in the TGFβ1 gene may alter the mRNA expression levels and influence the plasma protein concentration. Of the known TGFβ 1 polymorphisms, only the C-509T polymorphism in the promoter region has been shown to be significantly associated with the plasma concentrations of TGFβ 1. In this study, we have conducted a blinded study to determine if the -509 TGFβ1 gene polymorphism is associated with SS or SLE. Genomic PCR and RFLP analysis of a 441 bp sequence encompassing the –509 polymorphism of the TGFβ gene indicated that there were no statistically significant clinical correlations.
, , E. Lloveras, E. Sarret, B. Fernandez, J. Egozcue
Published: 31 December 2004
Annales de Génétique, Volume 47, pp 429-432; https://doi.org/10.1016/j.anngen.2004.07.002

The publisher has not yet granted permission to display this abstract.
Published: 31 December 2004
Annales de Génétique, Volume 47, pp 439-441; https://doi.org/10.1016/s0003-3995(04)00113-3

, Muhterem Bahce, Fatih Atik, Zuhal Candemir, Isıl Kucun Kiraz, Pelin Zorlu, Davut Gül
Published: 31 December 2004
Annales de Génétique, Volume 47, pp 393-398; https://doi.org/10.1016/j.anngen.2004.03.009

The publisher has not yet granted permission to display this abstract.
R. Sassi, Slama Hmida, H. Kaabi, A. Hajjej, A. Abid, S. Abdelkefi, S. Yacoub, M. Maamar, N. Mojaat, L. Ben Hamed, et al.
Published: 31 December 2004
Annales de Génétique, Volume 47, pp 325-330; https://doi.org/10.1016/j.anngen.2004.05.001

The publisher has not yet granted permission to display this abstract.
, C. De Vigan, N. Baena, E. Cariati, C. Stoll, P.A. Boyd, M. Clementi
Published: 31 December 2004
Annales de Génétique, Volume 47, pp 373-380; https://doi.org/10.1016/j.anngen.2004.09.005

Abstract:
The objective of this study was to evaluate the contribution of ultrasound scanning to the prenatal detection of trisomy 21 in a large unselected European population. Data from 19 congenital malformation registers in 11 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient. Routine serum screening was offered in four of the 11 countries and routine screening on the basis of maternal age amniocentesis in all. The results show that overall 53% of cases of trisomy 21 were detected prenatally with a range from 3% in Lithuania to 88% in Paris. Ninety-eight percent of women whose babies were diagnosed before 24 weeks gestation chose to terminate the pregnancy. Centres/countries that offer serum screening do not have a significantly higher detection rate of trisomy 21 when compared to those that offer maternal age amniocentesis and anomaly scanning only. Fifty percent of trisomy 21 cases were born to women aged 35 years or more. In conclusions, second trimester ultrasound plays an important role in the prenatal diagnosis of trisomy 21. Of those cases prenatally diagnosed, 64% of cases in women <35 years and 36% of those in women ≥35 years were detected because of an ultrasound finding. Ultrasound soft markers accounted for 84% of the scan diagnoses. There is evidence of increasing maternal age across Europe with 50% of cases of trisomy 21 born to women aged 35 years or more.
Aline Receveur, Jeanne Ong, Laurent Merlin, Zahia Azgui, , Roland Berger,
Published: 31 December 2004
Annales de Génétique, Volume 47, pp 423-427; https://doi.org/10.1016/j.anngen.2004.08.004

The publisher has not yet granted permission to display this abstract.
Published: 31 December 2004
Annales de Génétique, Volume 47, pp 443-450; https://doi.org/10.1016/s0003-3995(04)00114-5

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