Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

…, A Boulila-ElGaïed, M Grati, H Ayadi… - Human molecular …, 1997 - academic.oup.com
Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect.
In >80% of the cases, the mode of transmission is autosomal recessive. To date, 14 loci …

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene

…, G Lévy, F Levi-Acobas, M Drira, H Ayadi… - Nature …, 1997 - nature.com
Hereditary non-syndromic profound deafness affects about 1 in 2000 children prior to language
acquisition. In 80% of the cases, the mode of transmission is autosomal recessive. The …

Usher syndrome type IG (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

…, ZB Zina, C Hamel, A Gal, H Ayadi… - Human molecular …, 2003 - academic.oup.com
Usher syndrome type I (USH1) is the most frequent cause of hereditary deaf–blindness in
humans. Seven genetic loci (USH1A-G) have been implicated in this disease to date, and four …

Gene and protein markers of diabetic nephropathy

…, L Molina, B Jardin-Watelet, H Ayadi… - Nephrology Dialysis …, 2008 - academic.oup.com
Diabetic nephropathy (DN) develops in a large number of type 1 (T1D) and type 2 diabetic (T2D)
patients after a variable latency period. DN absolute number is increasing because of …

[HTML][HTML] Analysis of skewed X-chromosome inactivation in females with rheumatoid arthritis and autoimmune thyroid diseases

…, M Mnif, Z Bahloul, NR Farid, T Ozcelik, H Ayadi - Arthritis research & …, 2009 - Springer
Introduction The majority of autoimmune diseases such as rheumatoid arthritis (RA) and
autoimmune thyroid diseases (AITDs) are characterized by a striking female predominance …

Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice

…, I Soto, P Söderkvist, GR Howell, RS Smith, H Ayadi… - Nature …, 2011 - nature.com
Angle-closure glaucoma (ACG) is a subset of glaucoma affecting 16 million people 1 , 2 , 3 .
Although 4 million people are bilaterally blind from ACG 4 , 5 , the causative molecular …

Association study of VDR gene with rheumatoid arthritis in the French population

…, L Michou, A Rebai, F Cornélis, H Ayadi - Genes & …, 2005 - nature.com
Vitamin D is a potent regulator of calcium homeostasis and may have immunomodulatory
effects. The influence of vitamin D on human autoimmune disease is controversial. The aim of …

Consanguinity and endogamy in Northern Tunisia and its impact on non‐syndromic deafness

…, N Beltaief, S Hachicha, H Ayadi - … Official Publication of …, 2004 - Wiley Online Library
Deafness is an important health problem in the Tunisian population, especially in isolates
where the prevalence ranges from 2 to 8%. To evaluate the effect of inbred unions on deafness…

Proteomic approaches for discovering biomarkers of diabetic nephropathy

…, C Bolvin, C Kifagi, F Jarraya, H Ayadi… - Nephrology Dialysis …, 2010 - academic.oup.com
More and more patients worldwide suffer from end-stage renal disease which often is secondary
to diabetes (eg 36.9% of all US patients with end-stage renal disease have a diabetic …

A Newly Identified Locus for Usher Syndrome Type I, USH1E, Maps to Chromosome 21q21

…, J Kaplan, S Gerber, C Vincent, H Ayadi… - Human molecular …, 1997 - academic.oup.com
Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized
by congenital hearing loss combined with retinitis pigmentosa. This dual sensorineural …