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Papers authored by Hamel CP

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TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness.

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Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME,

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American journal of human genetics 85(5):720-9, 2009 Nov - Who cited this? | PubMed ID: 19896113 | Fulltext

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

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Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P,

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Human mutation 30(7):E692-705, 2009 Jul - Who cited this? | PubMed ID: 19319978 | Fulltext

Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity.

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Hamel CP, Meunier I, Arndt C, Ben Salah S, Lopez S, Bazalgette C, Bazalgette C, Zanlonghi X, Arnaud B, Defoort-Dellhemmes S, and Puech B

American journal of ophthalmology 147(4):609-20, 2009 Apr - Who cited this? | PubMed ID: 19181301 | Fulltext

Novel KCNV2 Mutations in Cone Dystrophy with Supernormal Rod Electroretinogram.

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Salah SB, Kamei S, Sénéćhal A, Lopez S, Bazalgette C, Bazalgette C, Eliaou CM, Zanlonghi X, and Hamel CP

American journal of ophthalmology 145(6):1099-106, 2008 Jun - Who cited this? | PubMed ID: 18400204 | Fulltext

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

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Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM,

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American journal of human genetics 81(5):1098, 2007 Nov - Who cited this? | PubMed ID: 17924349 | Fulltext

RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases.

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Ksantini M, Sénéchal A, Humbert G, Arnaud B, and Hamel CP

Ophthalmic genetics 28(1):31-7, 2007 Mar - Who cited this? | PubMed ID: 17454745 | Fulltext

Cone rod dystrophies.

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Hamel CP

Orphanet journal of rare diseases 2:7, 2007 - Who cited this? | PubMed ID: 17270046 | Fulltext

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.

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Humbert G, Delettre C, Sénéchal A, Bazalgette C, Barakat A, Bazalgette C, Arnaud B, Lenaers G, and Hamel CP

Investigative ophthalmology & visual science 47(11):4719-24, 2006 Nov - Who cited this? | PubMed ID: 17065479 | Fulltext

Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.

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Sénéchal A, Humbert G, Surget MO, Bazalgette C, Bazalgette C, Arnaud B, Arndt C, Laurent E, Brabet P, and Hamel CP

American journal of ophthalmology 142(4):702-4, 2006 Oct - Who cited this? | PubMed ID: 17011878 | Fulltext

Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network.

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Kamei S, Chen-Kuo-Chang M, Cazevieille C, Lenaers G, Olichon A, Bélenguer P, Roussignol G, Renard N, Eybalin M, Michelin A, Delettre C, Brabet P, and Hamel CP

Investigative ophthalmology & visual science 46(11):4288-94, 2005 Nov - Who cited this? | PubMed ID: 16249510 | Fulltext

Deafness and cochlear fibrocyte alterations in mice deficient for the inner ear protein otospiralin.

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Delprat B, Ruel J, Guitton MJ, Hamard G, Lenoir M, Pujol R, Puel JL, Brabet P, and Hamel CP

Molecular and cellular biology 25(2):847-53, 2005 Jan - Who cited this? | PubMed ID: 15632083 | Fulltext

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.

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Lorenz B, Wabbels B, Wegscheider E, Hamel CP, Drexler W, and Preising MN

Ophthalmology 111(8):1585-94, 2004 Aug - Who cited this? | PubMed ID: 15288992 | Fulltext

Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.

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Indelman M, Hamel CP, Bergman R, Nischal KK, Thompson D, Surget MO, Ramon M, Ganthos H, Miller B, Richard G, Lurie R, Leibu R, Russell-Eggitt I, and Sprecher E

The Journal of investigative dermatology 121(5):1217-20, 2003 Nov - Who cited this? | PubMed ID: 14708629 | Fulltext

Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.

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Delettre C, Lenaers G, Belenguer P, and Hamel CP

BMC genetics 4:8, 2003 May 7 - Who cited this? | PubMed ID: 12735796 | Fulltext

A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.

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Jacobi FK, Hamel CP, Arnaud B, Blin N, Broghammer M, Jacobi PC, Apfelstedt-Sylla E, and Pusch CM

American journal of ophthalmology 135(5):733-6, 2003 May - Who cited this? | PubMed ID: 12719097 | Fulltext

Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin.

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Lavigne-Rebillard M, Delprat B, Surget MO, Griffoin JM, Weil D, Arbones M, Vincent R, and Hamel CP

Neurogenetics 4(3):137-40, 2003 Apr - Who cited this? | PubMed ID: 12687421 | Fulltext

Identification of preferentially expressed mRNAs in retina and cochlea.

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Maubaret C, Delettre C, Sola S, and Hamel CP

DNA and cell biology 21(11):781-91, 2002 Nov - Who cited this? | PubMed ID: 12489989 | Fulltext

What similarity between human and fission yeast proteins is required for orthology?.

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Lenaers G, Pelloquin L, Olichon A, Emorine LJ, Guillou E, Delettre C, Hamel CP, Ducommun B, and Belenguer P

Yeast (Chichester, England) 19(13):1125-6, 2002 Sep 30 - Who cited this? | PubMed ID: 12237853 | Fulltext

The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space.

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Olichon A, Emorine LJ, Descoins E, Pelloquin L, Brichese L, Gas N, Guillou E, Delettre C, Valette A, Hamel CP, Ducommun B, Lenaers G, and Belenguer P

FEBS letters 523(1-3):171-6, 2002 Jul 17 - Who cited this? | PubMed ID: 12123827 | Fulltext

Downregulation of otospiralin, a novel inner ear protein, causes hair cell degeneration and deafness.

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Delprat B, Boulanger A, Wang J, Beaudoin V, Guitton MJ, Ventéo S, Dechesne CJ, Pujol R, Lavigne-Rebillard M, Puel JL, and Hamel CP

The Journal of neuroscience : the official journal of the Society for Neuroscience 22(5):1718-25, 2002 Mar 1 - Who cited this? | PubMed ID: 11880501 | Fulltext

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

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Delettre C, Lenaers G, Pelloquin L, Belenguer P, and Hamel CP

Molecular genetics and metabolism 75(2):97-107, 2002 Feb - Who cited this? | PubMed ID: 11855928 | Fulltext

Mutation spectrum and splicing variants in the OPA1 gene.

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Delettre C, Griffoin JM, Kaplan J, Dollfus H, Lorenz B, Faivre L, Lenaers G, Belenguer P, and Hamel CP

Human genetics 109(6):584-91, 2001 Dec - Who cited this? | PubMed ID: 11810270 | Fulltext

Retinal dystrophies caused by mutations in RPE65: assessment of visual functions.

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Hamel CP, Griffoin JM, Lasquellec L, Bazalgette C, and Arnaud B

The British journal of ophthalmology 85(4):424-7, 2001 Apr - Who cited this? | PubMed ID: 11264131 | Fulltext

Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.

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Bareil C, Hamel CP, Delague V, Arnaud B, Demaille J, and Claustres M

Human genetics 108(4):328-34, 2001 Apr - Who cited this? | PubMed ID: 11379879 | Fulltext

[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].

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Hamel CP, Griffoin JM, Bazalgette C, Lasquellec L, Duval PA, Bareil C, Beaufrère L, Bonnet S, Eliaou C, Marlhens F, Schmitt-Bernard CF, Tuffery S, Claustres M, and Arnaud B

Journal francais d'ophtalmologie 23(10):985-95, 2000 Dec - Who cited this? | PubMed ID: 11139690 | Fulltext

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.

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Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, and Hamel CP

Nature genetics 26(2):207-10, 2000 Oct - Who cited this? | PubMed ID: 11017079 | Fulltext

Genetic analysis of RPE65: from human disease to mouse model.

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Redmond TM and Hamel CP

Methods in enzymology 316:705-24, 2000 - Who cited this? | PubMed ID: 10800710 | Fulltext

Expression pattern of mammalian cochlea outer hair cell (OHC) mRNA: screening of a rat OHC cDNA library.

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Harter C, Ripoll C, Lenoir M, Hamel CP, and Rebillard G

DNA and cell biology 18(1):1-10, 1999 Jan - Who cited this? | PubMed ID: 10025504 | Fulltext

[Clinical features and genetic analysis in a family with X-linked incomplete congenital stationary night blindness (CSNBi)].

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Schmitt-Bernard CF, Bareil C, Hamel CP, Beaufrere L, Arnaud B, Claustres M, and de Meeus A

Journal francais d'ophtalmologie 21(4):251-6, 1998 Apr - Who cited this? | PubMed ID: 9759413 | Fulltext

Rat messenger RNA for the retinal pigment epithelium-specific protein RPE65 gradually accumulates in two weeks from late embryonic days.

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Manès G, Leducq R, Kucharczak J, Pagès A, Schmitt-Bernard CF, and Hamel CP

FEBS letters 423(2):133-7, 1998 Feb 20 - Who cited this? | PubMed ID: 9512345 | Fulltext

Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.

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Marlhens F, Griffoin JM, Bareil C, Arnaud B, Claustres M, and Hamel CP

European journal of human genetics : EJHG 6(5):527-31, 1998 - Who cited this? | PubMed ID: 9801879 | Fulltext

RPE65, the major retinal pigment epithelium microsomal membrane protein, associates with phospholipid liposomes.

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Tsilou E, Hamel CP, Yu S, and Redmond TM

Archives of biochemistry and biophysics 346(1):21-7, 1997 Oct 1 - Who cited this? | PubMed ID: 9328280 | Fulltext

Mutations in RPE65 cause Leber's congenital amaurosis.

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Marlhens F, Bareil C, Griffoin JM, Zrenner E, Amalric P, Eliaou C, Liu SY, Harris E, Redmond TM, Arnaud B, Claustres M, and Hamel CP

Nature genetics 17(2):139-41, 1997 Oct - Who cited this? | PubMed ID: 9326927 | Fulltext

Identification of preferentially expressed cochlear genes by systematic sequencing of a rat cochlea cDNA library.

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Soto-Prior A, Lavigne-Rebillard M, Lenoir M, Ripoll C, Rebillard G, Vago P, Pujol R, and Hamel CP

Brain research. Molecular brain research 47(1-2):1-10, 1997 Jul - Who cited this? | PubMed ID: 9221896 | Fulltext

Molecular cloning and expression of alpha parvalbumin in the guinea pig cochlea.

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Soto-Prior A, Cluzel M, Renard N, Ripoll C, Lavigne-Rebillard M, Eybalin M, and Hamel CP

Brain research. Molecular brain research 34(2):337-42, 1995 Dec 28 - Who cited this? | PubMed ID: 8750839 | Fulltext

The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3.

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Hamel CP, Jenkins NA, Gilbert DJ, Copeland NG, and Redmond TM

Genomics 20(3):509-12, 1994 Apr - Who cited this? | PubMed ID: 8034329 | Fulltext

Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro.

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Hamel CP, Tsilou E, Pfeffer BA, Hooks JJ, Detrick B, and Redmond TM

The Journal of biological chemistry 268(21):15751-7, 1993 Jul 25 - Who cited this? | PubMed ID: 8340400 | Fulltext

A developmentally regulated microsomal protein specific for the pigment epithelium of the vertebrate retina.

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Hamel CP, Tsilou E, Harris E, Pfeffer BA, Hooks JJ, Detrick B, and Redmond TM

Journal of neuroscience research 34(4):414-25, 1993 Mar 1 - Who cited this? | PubMed ID: 8474143 | Fulltext

Murine coronavirus induces an acute and long-lasting disease of the retina.

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Robbins SG, Hamel CP, Detrick B, and Hooks JJ

Laboratory investigation; a journal of technical methods and pathology 62(4):417-26, 1990 Apr - Who cited this? | PubMed ID: 2159082 | Fulltext

Evaluation of Ia expression in rat ocular tissues following inoculation with interferon-gamma.

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Hamel CP, Detrick B, and Hooks JJ

Experimental eye research 50(2):173-82, 1990 Feb - Who cited this? | PubMed ID: 2107092 | Fulltext

Nonspecific immunoglobulin E in aqueous humor: evaluation in uveitis.

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Hamel CP, De Luca H, Billotte C, Offret H, and Bloch-Michel E

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 227(5):489-93, 1989 - Who cited this? | PubMed ID: 2806935 | Fulltext

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