Search Results - "Hardelin, J P"

The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al by Hardelin, J-P, Dodé, C

“…Kallmann syndrome (KS) combines hypogonadotropic hypogonadism and anosmia. Anosmia is related to the absence or hypoplasia of the olfactory bulbs and tracts…”
Get more information

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment by Bonnet, C., Louha, M., Loundon, N., Michalski, N., Verpy, E., Smagghe, L., Hardelin, J.-P., Rouillon, I., Jonard, L., Couderc, R., Gherbi, S., Garabedian, E.N., Denoyelle, F., Petit, C., Marlin, S.

“…Hearing impairment is characterized by great genetic heterogeneity. We report the identification, by whole exome sequencing, of two different nonsense…”
Get full text

Clinical genetics of Kallmann syndrome by Dodé, C, Hardelin, J.-P

“…Résumé Le syndrome de Kallmann-de Morsier associe hypogonadisme hypogonadotrope et anosmie. Il se caractérise par une hétérogénéité à la fois génétique et…”
Get full text

MOLECULAR GENETICS OF HEARING LOSS by Petit, Christine, Levilliers, Jacqueline, Hardelin, Jean-Pierre

“…Hereditary isolated hearing loss is genetically highly heterogeneous. Over 100 genes are predicted to cause this disorder in humans. Sixty loci have been…”
Get full text

Migration of luteinizing hormone-releasing hormone (LHRH) neurons in early human embryos by Schwanzel-Fukuda, M., Crossin, K.L., Pfaff, D.W., Bouloux, P.M.G., Hardelin, J.-P., Petit, C.

“…Luteinizing hormone‐releasing hormone (LHRH) neurons originate in the epithelium of the medial olfactory pit and migrate from the nose into the forebrain along…”
Get full text

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules by Legouis, R, Hardelin, J P, Levilliers, J, Claverie, J M, Compain, S, Wunderle, V, Millasseau, P, Le Paslier, D, Cohen, D, Caterina, D

“…Kallmann syndrome associates hypogonadotropic hypogonadism and anosmia and is probably due to a defect in the embryonic migration of olfactory and…”
Get more information

Kallmann syndrome: towards molecular pathogenesis by Hardelin, Jean-Pierre

“…Gonadotropin Releasing Hormone (GnRH) is a key regulator of reproduction and sexual behaviour. During the last decade, embryological studies have clarified the…”
Get full text

X Chromosome-Linked Kallmann Syndrome: Stop Mutations Validate the Candidate Gene by Hardelin, Jean-Pierre, Levilliers, Jacqueline, del Castillo, Ignacio, Cohen-Salmon, Martine, Legouis, Renaud, Blanchard, Stephane, Compain, Sylvie, Bouloux, Pierre, Kirk, Jeremy, Moraine, Claude, Chaussain, Jean-Louis, Weissenbach, Jean, Petit, Christine

“…Kallmann syndrome represents the association of hypogonadotropic hypogonadism with anosmia. This syndrome is from a defect in the embryonic migratory pathway…”
Get full text

Molecular Characterization of the Ankle-Link Complex in Cochlear Hair Cells and Its Role in the Hair Bundle Functioning by Michalski, Nicolas, Michel, Vincent, Bahloul, Amel, Lefevre, Gaelle, Barral, Jeremie, Yagi, Hideshi, Chardenoux, Sebastien, Weil, Dominique, Martin, Pascal, Hardelin, Jean-Pierre, Sato, Makoto, Petit, Christine

“…Several lines of evidence indicate that very large G-protein-coupled receptor 1 (Vlgr1) makes up the ankle links that connect the stereocilia of hair cells at…”
Get full text

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome by Hardelin, J P, Levilliers, J, Blanchard, S, Carel, J C, Leutenegger, M, Pinard-Bertelletto, J P, Bouloux, P, Petit, C

“…Kallmann syndrome represents the association of hypogonadotropic hypogonadism with anosmia. Three modes of transmission, X chromosome-linked, autosomal…”
Get more information

Xp22.3 deletions in isolated familial Kallmann's syndrome by Hardelin, J P, Levilliers, J, Young, J, Pholsena, M, Legouis, R, Kirk, J, Bouloux, P, Petit, C, Schaison, G

“…Several familial cases of Kallmann's syndrome (KS) have been reported, among which the X-chromosome-linked mode of inheritance is the most frequent. The gene…”
Get more information

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family by Behlouli, A, Bonnet, C, Abdi, S, Hasbellaoui, M, Boudjenah, F, Hardelin, J.-P, Louha, M, Makrelouf, M, Ammar-Khodja, F, Zenati, A, Petit, C

“…Abstract Congenital deafness is certainly one of the most common monogenic diseases in humans, but it is also one of the most genetically heterogeneous, which…”
Get full text

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome by Soussi-Yanicostas, Nadia, Baverel, Françoise, Dupont, Jean-Michel, Cabrol, Sylvie, Levilliers, Jacqueline, Bouchard, Philippe, Kottler, Marie-Laure, Sanchez-Franco, Franco, Delmaghani, Sedigheh, Petit, Christine, Hardelin, Jean-Pierre, Delpech, Marc, De Paepe, Anne, Carel, Jean-Claude, Compain-Nouaille, Sylvie, Richard, Odile, Young, Jacques, Coimbra, Roney S, Goulet-Salmon, Barbara, Cruaud, Corinne, Le Tessier, Dominique, Vermeulen, Stefan, Delemarre-van de Waal, Henriette, Le Dû, Nathalie, Speleman, Frank, Saura, Robert, Bachelot, Yvan, Dodé, Catherine, Amalfitano, Andrea, Pêcheux, Christophe

“…We took advantage of overlapping interstitial deletions at chromosome 8p11-p12 in two individuals with contiguous gene syndromes and defined an interval of…”
Get full text

Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential by Teubner, Barbara, Michel, Vincent, Pesch, Jörg, Lautermann, Jürgen, Cohen-Salmon, Martine, Söhl, Goran, Jahnke, Klaus, Winterhager, Elke, Herberhold, Claus, Hardelin, Jean-Pierre, Petit, Christine, Willecke, Klaus

“…The gap junction protein connexin30 (Cx30) is expressed in a variety of tissues that include epithelial and mesenchymal structures of the inner ear. We…”
Get full text

Targeted Ablation of Connexin26 in the Inner Ear Epithelial Gap Junction Network Causes Hearing Impairment and Cell Death by Cohen-Salmon, Martine, Ott, Thomas, Michel, Vincent, Hardelin, Jean-Pierre, Perfettini, Isabelle, Eybalin, Michel, Wu, Tao, Marcus, Daniel C., Wangemann, Philine, Willecke, Klaus, Petit, Christine

“…Mutations in the gene encoding the gap junction protein connexin26 (Cx26) are responsible for the autosomal recessive isolated deafness, DFNB1, which accounts…”
Get full text

The Human SOX11 Gene: Cloning, Chromosomal Assignment and Tissue Expression by JAY, PHILIPPE, GOZÉ, CATHERINE, MARSOLLIER, CATHERINE, TAVIAUX, SYLVIE, HARDELIN, JEAN-PIERRE, KOOPMAN, PETER, BERTA, PHILIPPE

“…The mammalian testis determining gene SRY contains an HMG box-related DNA binding motif. By analogy a family of genes related to SRY in the HMG domain have…”
Get full text

KCNQ4, a K+Channel Mutated in a Form of Dominant Deafness, Is Expressed in the Inner Ear and the Central Auditory Pathway by Kharkovets, Tatjana, Hardelin, Jean-Pierre, Safieddine, Saaid, Schweizer, Michaela, El-Amraoui, Aziz, Petit, Christine, Jentsch, Thomas J.

“…Mutations in the potassium channel gene KCNQ4 underlie DFNA2, an autosomal dominant form of progressive hearing loss in humans. In the mouse cochlea, the…”
Get full text

Analysis of a brain-specific isozyme. Expression and chromatin structure of the rat aldolase C gene and transgenes by MAKEH, T, THOMAS, M, HARDELIN, J.-P, BRIAND, P, KAHN, A, SKALA, H

“…Aldolase C mRNA is detected by Northern blot in all fetal tissues in rat; it is very abundant in the adult brain and undetectable in the other adult tissues…”
Get full text

A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3) by BOULOUX, P.-M. G, HARDELIN, J.-P, MUNROE, P, KIRK, J. M. W, LEGOUIS, R, LEVILLIERS, J, HAZAN, J, WEISSENBACH, J, PETIT, C

“…Images…”
Get full text

Kallmann syndrome by Hardelin, J P, Soussi-Yanicostas, N, Ardouin, O, Levilliers, J, Petit, C

Get more information