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Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. Identification of three genes that code for renal transporters and channels as… Expand
GJB2 mutations and degree of hearing loss: a multicenter study.
- R. L. Snoeckx, P. Huygen, +61 authors G. Van Camp
- American journal of human genetics
- 1 December 2005
Hearing impairment (HI) affects 1 in 650 newborns, which makes it the most common congenital sensory impairment. Despite extraordinary genetic heterogeneity, mutations in one gene, GJB2, which… Expand
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
- M. Konrad, M. Vollmer, +12 authors F. Hildebrandt
- Journal of the American Society of Nephrology…
- 1 August 2000
ABSTRACT.: Inherited hypokalemic renal tubulopathies are differentiated into at least three clinical subtypes: (1) the Gitelman variant of Bartter syndrome (GS); (2) hyperprostaglandin E syndrome,… Expand
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 19 laboratories in France. We have analyzed 7,420 CF alleles, demonstrating a total of 310 different mutations… Expand
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
- C. Bonnet, M. Grati, +38 authors F. Denoyelle
- Biology, Medicine
- Orphanet journal of rare diseases
- 11 May 2011
BackgroundUsher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patient… Expand
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
- Sébastien Albert, H. Blons, +27 authors F. Denoyelle
- European Journal of Human Genetics
- 1 June 2006
Sensorineural hearing loss is the most frequent sensory deficit of childhood and is of genetic origin in up to 75% of cases. It has been shown that mutations of the SLC26A4 (PDS) gene were involved… Expand
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
- S. Marlin, D. Feldmann, +33 authors F. Denoyelle
- Medicine, Biology
- Archives of otolaryngology--head & neck surgery
- 1 June 2005
OBJECTIVES To analyze the clinical features of hearing impairment and to search for correlations with the genotype in patients with DFNB1. DESIGN Case series. SETTING Collaborative study in… Expand
Results of cochlear implantation in two children with mutations in the OTOF gene.
- I. Rouillon, A. Marcolla, +8 authors N. Loundon
- International journal of pediatric…
- 1 April 2006
OBJECTIVE The purpose of the study is to present the results of cochlear implantation in case of deafness involving mutations in the OTOF gene. This form of deafness is characterized by the presence… Expand
NKX2‐1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain‐Lung‐Thyroid Syndrome”
NKX2‐1 (NK2 homeobox 1) is a critical regulator of transcription for the surfactant protein (SP)‐B and ‐C genes (SFTPB and SFTPC, respectively). We identified and functionally characterized two new… Expand
Auditory Neuropathy or Endocochlear Hearing Loss?
- N. Loundon, A. Marcolla, +5 authors E. Garabédian
- Otology & neurotology : official publication of…
- 1 July 2005
Aims: The purpose of the study was to define boundaries between endocochlear hearing loss and auditory neuropathy in children with congenital profound hearing loss and positive otoacoustic emissions.… Expand