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Papers authored by Hardelin JP

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Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells.

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Michalski N, Michel V, Caberlotto E, Lefèvre GM, van Aken AF, Tinevez JY, Bizard E, Houbron C, Weil D, Hardelin JP, Richardson GP, Kros CJ, Martin P, and Petit C

Pflugers Archiv : European journal of physiology 459(1):115-30, 2009 Nov - Who cited this? | PubMed ID: 19756723 | Fulltext

Kallmann syndrome.

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Dodé C and Hardelin JP

European journal of human genetics : EJHG 17(2):139-46, 2009 Feb - Who cited this? | PubMed ID: 18985070 | Fulltext

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity.

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Monnier C, Dodé C, Fabre L, Teixeira L, Labesse G, Pin JP, Hardelin JP, and Rondard P

Human molecular genetics 18(1):75-81, 2009 Jan 1 - Who cited this? | PubMed ID: 18826963 | Fulltext

Stereocilin-deficient mice reveal the origin of cochlear waveform distortions.

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Verpy E, Weil D, Leibovici M, Goodyear RJ, Hamard G, Houdon C, Lefèvre GM, Hardelin JP, Richardson GP, Avan P, and Petit C

Nature, 2008 Oct 8 - Who cited this? | PubMed ID: 18849963 | Fulltext

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.

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Leroy C, Fouveaut C, Leclercq S, Jacquemont S, Boullay HD, Lespinasse J, Delpech M, Dupont JM, Hardelin JP, and Dodé C

European journal of human genetics : EJHG 16(7):865, 2008 Jul - Who cited this? | PubMed ID: 18285834 | Fulltext

A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth.

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Lefèvre G, Michel V, Weil D, Lepelletier L, Bizard E, Wolfrum U, Hardelin JP, and Petit C

Development (Cambridge, England) 135(8):1427, 2008 Apr - Who cited this? | PubMed ID: 18339676 | Fulltext

Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.

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Salenave S, Chanson P, Bry H, Pugeat M, Cabrol S, Carel JC, Murat A, Lecomte P, Brailly S, Hardelin JP, Dodé C, and Young J

The Journal of clinical endocrinology and metabolism 93(3):758-63, 2008 Mar - Who cited this? | PubMed ID: 18160472 | Fulltext

The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.

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Hardelin JP and Dodé C

Sexual development 2(4-5):181-93, 2008 - Who cited this? | PubMed ID: 18987492 | Fulltext

Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning.

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Michalski N, Michel V, Bahloul A, Lefèvre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin JP, Sato M, and Petit C

The Journal of neuroscience : the official journal of the Society for Neuroscience 27(24):6478, 2007 Jun 13 - Who cited this? | PubMed ID: 17567809 | Fulltext

Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis.

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Cohen-Salmon M, Regnault B, Cayet N, Caille D, Demuth K, Hardelin JP, Janel N, Meda P, and Petit C

Proceedings of the National Academy of Sciences of the United States of America 104(15):6229, 2007 Apr 10 - Who cited this? | PubMed ID: 17400755 | Fulltext

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.

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Dodé C, Fouveaut C, Mortier G, Janssens S, Bertherat J, Mahoudeau J, Kottler ML, Chabrolle C, Gancel A, François I, Devriendt K, Wolczynski S, Pugeat M, Pineiro-Garcia A, Murat A, Bouchard P,

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Human mutation 28(1):97, 2007 Jan - Who cited this? | PubMed ID: 17154279 | Fulltext

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

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Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C,

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PLoS genetics 2(10):e175, 2006 Oct 20 - Who cited this? | PubMed ID: 17054399 | Fulltext

PHR1, an integral membrane protein of the inner ear sensory cells, directly interacts with myosin 1c and myosin VIIa.

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Etournay R, El-Amraoui A, Bahloul A, Blanchard S, Roux I, Pézeron G, Michalski N, Daviet L, Hardelin JP, Legrain P, and Petit C

Journal of cell science 118(Pt 13):2891-9, 2005 Jul 1 - Who cited this? | PubMed ID: 15976448 | Fulltext

Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient.

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Gannagé-Yared MH, Dodé C, Ghanem I, Chouery E, Jalkh N, Hardelin JP, and Mégarbané A

European journal of endocrinology / European Federation of Endocrine Societies 152(6):813-7, 2005 Jun - Who cited this? | PubMed ID: 15941919 | Fulltext

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly.

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Delprat B, Michel V, Goodyear R, Yamasaki Y, Michalski N, El-Amraoui A, Perfettini I, Legrain P, Richardson G, Hardelin JP, and Petit C

Human molecular genetics 14(3):401-10, 2005 Feb 1 - Who cited this? | PubMed ID: 15590698 | Fulltext

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).

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Albuisson J, Pêcheux C, Carel JC, Lacombe D, Leheup B, Lapuzina P, Bouchard P, Legius E, Matthijs G, Wasniewska M, Delpech M, Young J, Hardelin JP, and Dodé C

Human mutation 25(1):98-9, 2005 Jan - Who cited this? | PubMed ID: 15605412 | Fulltext

[Usher syndrome type I and the differentiation of inner ear sensory cells' hair bundles].

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El-Amraoui A, Lefèvre G, Hardelin JP, and Petit C

Medecine sciences : M/S 21(8-9):737-40, 2005 - Who cited this? | PubMed ID: 16115459 | Fulltext

Kallmann syndrome: fibroblast growth factor signaling insufficiency?.

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Dodé C and Hardelin JP

Journal of molecular medicine (Berlin, Germany) 82(11):725, 2004 Nov - Who cited this? | PubMed ID: 15365636 | Fulltext

[Kallmann De Morsier syndrome: FGF-signaling insufficiency?].

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Dodé C and Hardelin JP

Médecine sciences : M/S 20(8-9):793 - Who cited this? | PubMed ID: 15361347 | Fulltext

[Hereditary deafness: molecular genetics].

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Hardelin JP, Denoyelle F, Levilliers J, Simmler MC, and Petit C

Medecine sciences : M/S 20(3):311-6, 2004 Mar - Who cited this? | PubMed ID: 15067576 | Fulltext

Molecular mechanism of a frequent genetic form of deafness.

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Michel V, Hardelin JP, and Petit C

The New England journal of medicine 349(7):716-7, 2003 Aug 14 - Who cited this? | PubMed ID: 12917317 | Fulltext

X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.

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Massin N, Pêcheux C, Eloit C, Bensimon JL, Galey J, Kuttenn F, Hardelin JP, Dodé C, and Touraine P

The Journal of clinical endocrinology and metabolism 88(5):2003, 2003 May - Who cited this? | PubMed ID: 12727945 | Fulltext

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

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Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S,

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Nature genetics 33(4):463, 2003 Apr - Who cited this? | PubMed ID: 12627230 | Fulltext

Anosmin-1 immunoreactivity during embryogenesis in a primitive eutherian mammal.

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Dellovade TL, Hardelin JP, Soussi-Yanicostas N, Pfaff DW, Schwanzel-Fukuda M, and Petit C

Brain research. Developmental brain research 140(2):157, 2003 Feb 16 - Who cited this? | PubMed ID: 12586422 | Fulltext

Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.

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Teubner B, Michel V, Pesch J, Lautermann J, Cohen-Salmon M, Söhl G, Jahnke K, Winterhager E, Herberhold C, Hardelin JP, Petit C, and Willecke K

Human molecular genetics 12(1):13-21, 2003 Jan 1 - Who cited this? | PubMed ID: 12490528 | Fulltext

Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death.

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Cohen-Salmon M, Ott T, Michel V, Hardelin JP, Perfettini I, Eybalin M, Wu T, Marcus DC, Wangemann P, Willecke K, and Petit C

Current biology : CB 12(13):1106-11, 2002 Jul 9 - Who cited this? | PubMed ID: 12121617 | Fulltext

A subtracted cDNA library from the zebrafish (Danio rerio) embryonic inner ear.

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Coimbra RS, Weil D, Brottier P, Blanchard S, Levi M, Hardelin JP, Weissenbach J, and Petit C

Genome research 12(6):1007-11, 2002 Jun - Who cited this? | PubMed ID: 12045154 | Fulltext

Kallmann syndrome: towards molecular pathogenesis.

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Hardelin JP

Molecular and cellular endocrinology 179(1-2):75, 2001 Jun 20 - Who cited this? | PubMed ID: 11420131 | Fulltext

Molecular genetics of hearing loss.

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Petit C, Levilliers J, and Hardelin JP

Annual review of genetics 35:589-646, 2001 - Who cited this? | PubMed ID: 11700295 | Fulltext

Unconventional myosin VIIA is a novel A-kinase-anchoring protein.

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Küssel-Andermann P, El-Amraoui A, Safieddine S, Hardelin JP, Nouaille S, Camonis J, and Petit C

The Journal of biological chemistry 275(38):29654-9, 2000 Sep 22 - Who cited this? | PubMed ID: 10889203 | Fulltext

KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway.

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Kharkovets T, Hardelin JP, Safieddine S, Schweizer M, El-Amraoui A, Petit C, and Jentsch TJ

Proceedings of the National Academy of Sciences of the United States of America 97(8):4333-8, 2000 Apr 11 - Who cited this? | PubMed ID: 10760300 | Fulltext

Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.

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Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, and Ayadi H

American journal of medical genetics 90(1):38-44, 2000 Jan 3 - Who cited this? | PubMed ID: 10602116 | Fulltext

Kallmann syndrome.

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Hardelin JP, Soussi-Yanicostas N, Ardouin O, Levilliers J, and Petit C

Advances in oto-rhino-laryngology 56:268-74, 2000 - Who cited this? | PubMed ID: 10868244 | Fulltext

[Genetic anomalies of the gonadotropic axis].

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de Roux N, Morel Y, and Hardelin JP

La Revue du praticien 49(12):1277, 1999 Jun 15 - Who cited this? | PubMed ID: 10488658 | Fulltext

Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome.

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Hardelin JP, Julliard AK, Moniot B, Soussi-Yanicostas N, Verney C, Schwanzel-Fukuda M, Ayer-Le Lievre C, and Petit C

Developmental dynamics : an official publication of the American Association of Anatomists 215(1):26, 1999 May - Who cited this? | PubMed ID: 10340754 | Fulltext

Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner.

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Soussi-Yanicostas N, Faivre-Sarrailh C, Hardelin JP, Levilliers J, Rougon G, and Petit C

Journal of cell science 111 ( Pt 19):2953-65, 1998 Oct - Who cited this? | PubMed ID: 9730987 | Fulltext

Molecular approach to the pathogenesis of renal anomalies in Kallmann's syndrome and in the branchio-oto-renal syndrome.

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Hardelin JP, Soussi-Yanicostas N, Levilliers J, Kalatzis V, Abdelhak S, Cohen-Salmon M, and Petit C

Advances in nephrology from the Necker Hospital 28:419-28, 1998 - Who cited this? | PubMed ID: 9890002 | Fulltext

Kallmann's syndrome.

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Hardelin JP

Human reproduction (Oxford, England) 12(11 Suppl):104-6, 1997 Nov - Who cited this? | PubMed ID: 9433965 | Fulltext

Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system.

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Soussi-Yanicostas N, Hardelin JP, Arroyo-Jimenez MM, Ardouin O, Legouis R, Levilliers J, Traincard F, Betton JM, Cabanié L, and Petit C

Journal of cell science 109 ( Pt 7):1749-57, 1996 Jul - Who cited this? | PubMed ID: 8832397 | Fulltext

Migration of luteinizing hormone-releasing hormone (LHRH) neurons in early human embryos.

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Schwanzel-Fukuda M, Crossin KL, Pfaff DW, Bouloux PM, Hardelin JP, and Petit C

The Journal of comparative neurology 366(3):547-57, 1996 Mar 11 - Who cited this? | PubMed ID: 8907364 | Fulltext

The human SOX11 gene: cloning, chromosomal assignment and tissue expression.

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Jay P, Gozé C, Marsollier C, Taviaux S, Hardelin JP, Koopman P, and Berta P

Genomics 29(2):541-5, 1995 Sep 20 - Who cited this? | PubMed ID: 8666406 | Fulltext

A molecular approach to the pathophysiology of the X chromosome-linked Kallmann's syndrome.

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Hardelin JP and Petit C

Bailliere's clinical endocrinology and metabolism 9(3):489-507, 1995 Jul - Who cited this? | PubMed ID: 7575329 | Fulltext

Early expression of the KAL gene during embryonic development of the chick.

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Legouis R, Hardelin JP, Petit C, and Ayer-Le Lièvre C

Anatomy and embryology 190(6):549-62, 1994 Dec - Who cited this? | PubMed ID: 7893008 | Fulltext

Analysis of a brain-specific isozyme. Expression and chromatin structure of the rat aldolase C gene and transgenes.

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Makeh I, Thomas M, Hardelin JP, Briand P, Kahn A, and Skala H

The Journal of biological chemistry 269(6):4194-200, 1994 Feb 11 - Who cited this? | PubMed ID: 8307981 | Fulltext

Xp22.3 deletions in isolated familial Kallmann's syndrome.

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Hardelin JP, Levilliers J, Young J, Pholsena M, Legouis R, Kirk J, Bouloux P, Petit C, and Schaison G

The Journal of clinical endocrinology and metabolism 76(4):827-31, 1993 Apr - Who cited this? | PubMed ID: 8473391 | Fulltext

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

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Hardelin JP, Levilliers J, Blanchard S, Carel JC, Leutenegger M, Pinard-Bertelletto JP, Bouloux P, and Petit C

Human molecular genetics 2(4):373-7, 1993 Apr - Who cited this? | PubMed ID: 8504298 | Fulltext

Characterization and chromosomal assignment of a human cDNA encoding a protein related to the murine 102-kDa cadherin-associated protein (alpha-catenin).

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Claverie JM, Hardelin JP, Legouis R, Levilliers J, Bougueleret L, Mattei MG, and Petit C

Genomics 15(1):13-20, 1993 Jan - Who cited this? | PubMed ID: 8432524 | Fulltext

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.

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Hardelin JP, Levilliers J, del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J, and Moraine C

Proceedings of the National Academy of Sciences of the United States of America 89(17):8190-4, 1992 Sep 1 - Who cited this? | PubMed ID: 1518845 | Fulltext

The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.

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Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, and Caterina D

Cell 67(2):423-35, 1991 Oct 18 - Who cited this? | PubMed ID: 1913827 | Fulltext

A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3).

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Bouloux PM, Hardelin JP, Munroe P, Kirk JM, Legouis R, Levilliers J, Hazan J, Weissenbach J, and Petit C

Nucleic acids research 19(19):5453, 1991 Oct 11 - Who cited this? | PubMed ID: 1923841 | Fulltext

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