The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population
暂无分享,去创建一个
H. Rouba | A. Barakat | Redouane Boulouiz | O. Abidi | Halima Nahili | M. Kandil | Safaa Bounaceur | M. Charif
[1] B. Delprat,et al. Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss. , 2012, Biochemical and biophysical research communications.
[2] E. Farrokhi,et al. A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame , 2011, American journal of medical genetics. Part A.
[3] H. Benrahma,et al. Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss. , 2010, International journal of pediatric otorhinolaryngology.
[4] J. Veltman,et al. Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. , 2010, American journal of human genetics.
[5] Jm Schulze. LRTOMT: a new tone in understanding the symphony of non‐syndromic deafness , 2009, Clinical genetics.
[6] H. Rouba,et al. The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population. , 2008, Biochemical and biophysical research communications.
[7] H. Rouba,et al. Carrier frequencies of mutations/polymorphisms in the connexin 26 gene (GJB2) in the Moroccan population. , 2008, Genetic testing.
[8] G. Nürnberg,et al. A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family , 2008, American journal of medical genetics. Part A.
[9] H. Rouba,et al. Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness. , 2008, International journal of pediatric otorhinolaryngology.
[10] B. van der Zwaag,et al. Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans , 2008, Nature Genetics.
[11] G. Koob,et al. A catechol-O-methyltransferase that is essential for auditory function in mice and humans , 2008, Proceedings of the National Academy of Sciences.
[12] H. Rouba,et al. GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation. , 2007, International journal of pediatric otorhinolaryngology.
[13] A. Tlili,et al. Localization of a Novel Autosomal Recessive Non‐syndromic Hearing Impairment Locus DFNB63 to Chromosome 11q13.3‐q13.4 , 2007, Annals of human genetics.
[14] S. Riazuddin,et al. Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2–q13.3 , 2007, Human Genetics.
[15] C. Cremers,et al. A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2–q13.4 , 2007, Journal of Molecular Medicine.
[16] Paul J. Harrison,et al. Catechol-o-Methyltransferase, Cognition, and Psychosis: Val158Met and Beyond , 2006, Biological Psychiatry.
[17] A. Griffith,et al. Human nonsyndromic sensorineural deafness. , 2003, Annual review of genomics and human genetics.
[18] M. A. Carrondo,et al. Kinetics and crystal structure of catechol-o-methyltransferase complex with co-substrate and a novel inhibitor with potential therapeutic application. , 2002, Molecular pharmacology.
[19] M. Owen,et al. High rates of schizophrenia in adults with velo-cardio-facial syndrome (VCFS) , 1999, Schizophrenia Research.
[20] R. Shprintzen,et al. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[21] P. Argos,et al. Suggestions for "safe" residue substitutions in site-directed mutagenesis. , 1991, Journal of molecular biology.
[22] A. Eisenberg,et al. A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. , 1989, Nucleic acids research.
[23] G. Camp,et al. The hereditary hearing loss homepage , 1997 .