M. Hmani-Aifa

发表

A TLR4 polymorphism is associated with asthma and reduced lipopolysaccharide-induced interleukin-12(p70) responses in Swedish children.

P. Söderkvist, O. Vaarala, X. Mai, 2004, The Journal of allergy and clinical immunology.

DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.

A. Tlili, S. Masmoudi, H. Ayadi, 2011, European journal of medical genetics.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

B. van der Zwaag, H. Kremer, S. Riazuddin, 2008, Nature Genetics.

A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1

M. Khairallah, P. Söderkvist, A. Rebaï, 2009, Human Genetics.

Molecular identification of Helicobacter DNA present in human colorectal adenocarcinomas by 16S rDNA PCR amplification and pyrosequencing analysis.

K. Fransén, P. Söderkvist, H. Monstein, 2005, Journal of medical microbiology.

High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.

M. Tekin, M. Mustapha, S. Baig, 2010, Genetic testing and molecular biomarkers.

Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.

P. Söderkvist, L. Largueche, L. Matri, 2013, Gene.

Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families

P. Söderkvist, M. Hmani-Aifa, Annette Molbaek, 2019, Clinical & experimental ophthalmology.

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family

W. Kimberling, S. Riazuddin, P. Söderkvist, 2009, European Journal of Human Genetics.

Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.

F. Moreno, Mariem Ben Said, S. Masmoudi, 2012, International journal of pediatric otorhinolaryngology.

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

Richard S. Smith, P. Söderkvist, G. Howell, 2011, Nature Genetics.

Distinctive audiometric features between USH2A and USH2B subtypes of Usher syndrome

W. Kimberling, H. Ayadi, D. Orten, 2002, Journal of medical genetics.