Search Results - "Boulila, A"

Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene by Denoyelle, Françoise, Weil, Dominique, Maw, Marion A., Wilcox, Stephen A., Lench, Nicholas J., Allen-Powell, Denise R., Osborn, Amelia H., Dahl, Hans-Henrik M., Middleton, Anna, Houseman, Mark J., Dodé, Catherine, Marlin, Sandrine, Boulila-ElGaïed, Amel, Grati, Mohammed, Ayadi, Hammadi, BenArab, Saïda, Bitoun, Pierre, Lina-Granade, Geneviève, Godet, Jacqueline, Mustapha, Mirna, Loiselet, Jacques, El-Zir, Élie, Aubois, Anne, Joannard, Alain, Levilliers, Jacqueline, Garabédian, Éréa-Noël, Mueller, Robert F., McKinlay Gardner, R. J., Petit, Christine

“…Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect. In >80% of the cases, the mode of transmission is autosomal…”
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Genetic variation of Tunisian Teucrium polium L. (Lamiaceae) natural populations assessed by isozymes and rapd markers by Boulila, A, Béjaoui, A, Messaoud, C, Boussaid, M

“…Genetic diversity and structure of seven natural populations of Teucrium polium were assessed using forty-six electrophoretic bands revealed by seven isozymes,…”
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Genetic diversity and population structure of Hypericum humifusum L. (Hypericacae) in Tunisia: Implications for conservation by Béjaoui, A., Boulila, A., Messaoud, C., Rejeb, M. N., Boussaid, M.

“…Sixteen Tunisian natural populations of Hypericum humifusum from different bioclimates (sub-humid, upper semi-arid and lower semi-arid) were assessed for their…”
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Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE by MASMOUDI, SABER, ELGAIED-BOULILA, AMEL, KASSAB, ILYES, ARAB, SAIDA BEN, BLANCHARD, STEPHANE, BOUZOUITA, JA-EL, DRIRA, MOHAMED, KASSAB, AICHA, HACHICHA, SLAH, PETIT, CHRISTINE, AYADI, HAMMADI

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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness by Masmoudi, S., Antonarakis, S.E., Schwede, T., Ghorbel, A.M., Grati, M., Pappasavas, M.-P., Drira, M., Elgaied-Boulila, A., Wattenhofer, M., Rossier, C., Scott, H.S., Ayadi, H., Guipponi, M.

“…Regarding this article: The corresponding author of this article regrets that the last name of one of the co‐authors was misspelled. Dr. M’hamed GRATI was…”
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Deposition of anti-actin antibodies in the kidney of a patient with systemic lupus erythematosus under immunosuppressive treatment by BOULILA, A, HACHICHA, J, ADYEL, F. Z, JLIDI, R, AVRAMEAS, S, TERNYNCK, T, AYADI, H

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Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome by Hmani-Aifa, M, Arab, S Ben, Kharrat, K, Orten, D J, Boulila-Elgaied, A, Drira, M, Hachicha, S, Kimberling, W J, Ayadi, H

“…According to a study performed in various ethnic populations, USH2A is responsible for more than 85% of USH2 cases. 9 This genetic form showed considerable…”
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222 - A Novel Endoscopic Pyloromyotomy Technique for Minimally Invasive Esophagectomy by Boulila, Cyril A., Renaud, Stéphane, Al-Lawati, Yaseen, Hasbini, Karim, Abou-Malhab, Joe, Ramirez-GarciaLuna, Jose L., Lee, Emma, Mueller, Carmen L., Spicer, Jonathan, Molina, Juan-Carlos, Cools-Lartigue, Jonathan, Ferri, Lorenzo E.

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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness by Masmoudi, Saber, Antonarakis, Stylianos E., Schwede, Torsten, Ghorbel, Abdel Monem, Gratri, M'hamed, Pappasavas, Marie-Pierre, Drira, Mohamed, Elgaied-Boulila, Amel, Wattenhofer, Marie, Rossier, Colette, Scott, Hamish S., Ayadi, Hammadi, Guipponi, Michel

“…Recently the TMPRSS3 gene, which encodes a transmembrane serine protease, was found to be responsible for two non‐syndromic recessive deafness loci located on…”
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Expression of the autoreactive Ig repertoire in a large family, with high prevalence of thyroid autoimmune diseases by Chabchoub, I, Makni, H, Boulila-el Gaied, A, Maalej, A, Abid, M, Jouida, J, Ayadi, H

“…We have investigated the autoreactive Ig repertoire expressed by sera Ig of patients and healthy relatives individuals, who belong to a large family with high…”
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Contribution of DFNB1 and DFNB2 loci to neurosensory deafness in affected Tunisian families by Boulila-Elgaïed, A, Masmoudi, S, Drira, M, Gouia, M, Chaib, H, Petit, C, Ayadi, H

“…Classical studies have demonstrated genetic heterogeneity for nonsyndromic autosomal recessive congenital neurosensory deafness. The first two DFNB1 and DFNB2…”
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A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2 by Hmani, M, Ghorbel, A, Boulila-Elgaied, A, Ben Zina, Z, Kammoun, W, Drira, M, Chaabouni, M, Petit, C, Ayadi, H

“…Usher type II syndrome is defined by the association of retinitis pigmentosa, appearing in the late second to early third decade of life, with congenital…”
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Characterization of autoantibody activities in sera anti-DNA antibody and circulating immune complexes from 12 systemic lupus erythematosus patients by Adyel, F Z, Hentati, B, Boulila, A, Hachicha, J, Ternynck, T, Avrameas, S, Ayadi, H

“…To examine autoantibodies present in patients with active systemic lupus erythematosus (SLE), sera, circulating immune complexes (CIC), and antibodies purified…”
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Androgen receptor gene CAG repeats length in fertile and infertile Tunisian men by Hadjkacem, Lobna, Hadj-Kacem, Hassen, Boulila, Amel, Bahloul, Ali, Ayadi, Hammadi, Ammar-Keskes, Leila

“…Several reports implicated a relation between the trinucleotide (CAG) repeat length in the androgen receptor (AR) gene and male infertility. But such result…”
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Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation by Masmoudi, Saber, Charfedine, Ilhem, Hmani, Mounira, Grati, M'hamed, Ghorbel, Abdel Monem, Elgaied-Boulila, Amel, Drira, Mohamed, Hardelin, Jean-Pierre, Ayadi, Hammadi

“…Pendred syndrome comprises congenital sensorineural hearing loss, thyroid goiter, and positive perchlorate discharge test. Recently, this autosomal recessive…”
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Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates by Ben Arab, Saïda, Hmani, Mounira, Denoyelle, Françoise, Boulila-Elgaied, Amel, Chardenoux, Sebastien, Hachicha, Slah, Petit, Christine, Ayadi, Hammadi

“…Geographically isolated populations have been successfully used to localize genes for recessive inherited diseases, including non‐syndromic sensorineural…”
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Deposition of anti-actin antibodies in the kidney of a patient with systemic lupus erythematosus under immunosuppressive treatment by Boulila, A., Hachicha, J., Adyel, F. Z., Jlidi, R., Avrameas, S., Ternynck, T., Ayadi, H.

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Immunological analysis of 16 antinuclear antibodies in disseminated lupus erythematosus by Boulila Elgaied, A, Hintati, B, Fakhfakh, F, Karray, H, Hachicha, J, Jarraya, A, Ayadi, H

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