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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 asExpand
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GJB2 mutations and degree of hearing loss: a multicenter study.
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, whichExpand
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Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
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
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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 mutationsExpand
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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
BackgroundUsher syndrome (USH) combines sensorineural deafness with blindness. It is inherited in an autosomal recessive mode. Early diagnosis is critical for adapted educational and patientExpand
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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
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 involvedExpand
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GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
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 inExpand
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Results of cochlear implantation in two children with mutations in the OTOF gene.
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 presenceExpand
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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 newExpand
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Auditory Neuropathy or Endocochlear Hearing Loss?
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
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