Jean-Pierre Hardelin researcher
Hardelin, Jean-Pierre
VIAF ID: 3233147373410641580006 (Personal)
Permalink: http://viaf.org/viaf/3233147373410641580006
Preferred Forms
- 100 1 _ ‡a Hardelin, Jean-Pierre
- 100 1 _ ‡a Hardelin, Jean-Pierre
- 100 0 _ ‡a Jean-Pierre Hardelin ‡c researcher
4xx's: Alternate Name Forms (1)
Works
Title | Sources |
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ANOMALIES DU GENE KAL DANS LE SYNDROME DE KALLMANN DE MORSIER LIE AU CHROMOSOME X | |
Anosmin-1 immunoreactivity during embryogenesis in a primitive eutherian mammal. | |
Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids | |
The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells | |
Cochlear outer hair cells undergo an apical circumference remodeling constrained by the hair bundle shape | |
Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient | |
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis | |
Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis | |
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential | |
A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth | |
Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions | |
Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice. | |
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing | |
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome | |
EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss | |
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment | |
Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells | |
[Hereditary deafness: molecular genetics]. | |
Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes. | |
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients | |
Kallmann syndrome: fibroblast growth factor signaling insufficiency? | |
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2 | |
Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations | |
Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G. | |
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice | |
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness | |
Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness | |
Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly | |
A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family | |
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis | |
Otoferlin acts as a Ca2+ sensor for vesicle fusion and vesicle pool replenishment at auditory hair cell ribbon synapses. | |
Pathophysiology of the x chromosome-linked kallmann's syndrome: a molecular approach. | |
Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation | |
PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa | |
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients | |
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome | |
Spectrin βV adaptive mutations and changes in subcellular location correlate with emergence of hair cell electromotility in mammalians. | |
Stereocilin-deficient mice reveal the origin of cochlear waveform distortions | |
A subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear. | |
Usher syndrome type I and the differentiation of inner ear sensory cells' hair bundles | |
Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia | |
Vezatin, an integral membrane protein of adherens junctions, is required for the sound resilience of cochlear hair cells | |
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness | |
X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene. |