S. Delmaghani

发表

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

C. Petit, M. Mustapha, D. Weil, 2003, Human molecular genetics.

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes

E. Vizi, P. Avan, C. Petit, 2015, Cell.

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

Fabienne Wong Jun Tai, P. Avan, C. Petit, 2020, Proceedings of the National Academy of Sciences.

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome

P. Avan, C. Petit, A. El-Amraoui, 2018, The Journal of clinical investigation.

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

N. Ben-Tal, M. Lathrop, P. Avan, 2006, Nature Genetics.

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

C. Petit, S. Chardenoux, J. Hardelin, 2016, American journal of human genetics.

Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage

P. Avan, C. Petit, S. Delmaghani, 2019, Proceedings of the National Academy of Sciences.

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

F. Speleman, C. Petit, R. Coimbra, 2003, Nature Genetics.

THE MOLECULAR BASIS OF BTHALASSEMIA MUTATION IN FARS PROVINCE, IRAN

F. Mahboudi, S. Delmaghani, A. Merat, 1996 .

The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification

A. El-Amraoui, S. Delmaghani, 2022, Human genetics.

The Frequencies of three Factor IX-Linked Restriction Fragment Length Polymorphisms in Iranian Patients with Hemophilia B

R. Sharifian, S. Delmaghani, A. Mehr, 2004 .

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.

Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

Steve D. M. Brown, Stuart L. Johnson, S. Wells, 2019, EMBO molecular medicine.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

C. Petit, D. Weil, T. Yang, 2008, Clinical genetics.

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.

C. Petit, D. Weil, N. Michalski, 2012, Human molecular genetics.

Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges

A. El-Amraoui, S. Delmaghani, 2020, Journal of clinical medicine.

DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21–12.1

M. Lathrop, C. Petit, D. Weil, 2003, European Journal of Human Genetics.