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Papers authored by Dollfus H

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Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

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Stoetzel C, Riehm S, Bennouna Greene V, Pelletier V, Vigneron J, Leheup B, Marion V, Hellé S, Danse JM, Thibault C, Moulinier L, Veillon F, and Dollfus H

American journal of medical genetics. Part A 149A(10):2141-6, 2009 Oct - Who cited this? | PubMed ID: 19764023 | Fulltext

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

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de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, Attie-Bitach T,

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Proceedings of the National Academy of Sciences of the United States of America 106(33):13921-6, 2009 Aug 18 - Who cited this? | PubMed ID: 19666486 | 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

[Epidemiology of age related macular degeneration.].

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Leveziel N, Delcourt C, Zerbib J, Dollfus H, Kaplan J, Benlian P, Coscas G, Souied EH, and Soubrane G

Journal francais d'ophtalmologie 32(6):440-51, 2009 Jun - Who cited this? | PubMed ID: 19515460 | Fulltext

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.

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Marion V, Stoetzel C, Schlicht D, Messaddeq N, Koch M, Flori E, Danse JM, Mandel JL, and Dollfus H

Proceedings of the National Academy of Sciences of the United States of America 106(6):1820-5, 2009 Feb 10 - Who cited this? | PubMed ID: 19190184 | Fulltext

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

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Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Walter Kuss A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K, Apse K,

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Human mutation 30(2):E404-20, 2009 Feb - Who cited this? | PubMed ID: 19006247 | Fulltext

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

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Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M,

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American journal of human genetics 84(2):266-73, 2009 Feb - Who cited this? | PubMed ID: 19200525 | Fulltext

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.

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Laugel V, Dalloz C, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Valayannopoulos V, Sarasin A, and Dollfus H

Journal of medical genetics 45(9):564-71, 2008 Sep - Who cited this? | PubMed ID: 18628313 | Fulltext

Hereditary optic neuropathies share a common mitochondrial coupling defect.

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Chevrollier A, Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C, Eng MF, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V, Bonneau D, and Reynier P

Annals of neurology 63(6):794-8, 2008 Jun - Who cited this? | PubMed ID: 18496845 | Fulltext

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

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Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, and Katsanis N

Nature genetics 40(4):443-8, 2008 Apr - Who cited this? | PubMed ID: 18327255 | Fulltext

Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.

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Laugel V, Dalloz C, Stary A, Cormier-Daire V, Desguerre I, Renouil M, Fourmaintraux A, Velez-Cruz R, Egly JM, Sarasin A, and Dollfus H

European journal of human genetics : EJHG 16(3):320-7, 2008 Mar - Who cited this? | PubMed ID: 18183039 | Fulltext

[Vision disorders in children: what type of genetic counseling?].

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Dollfus H and Pelletier V

La Revue du praticien 57(18):2000-1, 2007 Nov 30 - Who cited this? | PubMed ID: 18389551 | Fulltext

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.

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Lévêque M, Marlin S, Jonard L, Procaccio V, Reynier P, Amati-Bonneau P, Baulande S, Pierron D, Lacombe D, Duriez F, Francannet C, Mom T, Journel H, Catros H, Drouin-Garraud V, Obstoy MF,

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European journal of human genetics : EJHG 15(11):1145-55, 2007 Nov - Who cited this? | PubMed ID: 17637808 | Fulltext

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.

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de Pontual L, Pelet A, Clement-Ziza M, Trochet D, Antonarakis SE, Attie-Bitach T, Beales PL, Blouin JL, Dastot-Le Moal F, Dollfus H, Goossens M, Katsanis N, Touraine R, Feingold J, Munnich A, Lyonnet S,

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Human mutation 28(8):790-6, 2007 Aug - Who cited this? | PubMed ID: 17397038 | Fulltext

Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.

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Fleury M, Barbier R, Ziegler F, Mohr M, Caron O, Dollfus H, Tranchant C, and Warter JM

Journal of neurology, neurosurgery, and psychiatry 78(6):656-7, 2007 Jun - Who cited this? | PubMed ID: 17088329 | Fulltext

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

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Perrault I, Delphin N, Hanein S, Gerber S, Dufier JL, Roche O, Defoort-Dhellemmes S, Dollfus H, Fazzi E, Munnich A, Kaplan J, and Rozet JM

Human mutation 28(4):416, 2007 Apr - Who cited this? | PubMed ID: 17345604 | Fulltext

Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.

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Schluth C, Cossée M, Girard-Lemaire F, Carelle N, Dollfus H, Jeandidier E, and Flori E

Pathologie-biologie 55(1):29-36, 2007 Feb - Who cited this? | PubMed ID: 16690229 | Fulltext

Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family.

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Deffert C, Niel F, Mochel F, Barrey C, Romana C, Souied E, Stoetzel C, Goossens M, Dollfus H, Verloes A, Girodon E, and Gerard-Blanluet M

American journal of medical genetics. Part A 143(2):208-13, 2007 Jan 15 - Who cited this? | PubMed ID: 17163542 | Fulltext

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

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Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM,

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American journal of human genetics 80(1):1-11, 2007 Jan - Who cited this? | PubMed ID: 17160889 | Fulltext

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

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Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, and Rozet JM

Human mutation 28(1):81-91, 2007 Jan - Who cited this? | PubMed ID: 16969763 | Fulltext

Late onset stroke and myocardial infarction in Williams syndrome.

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Blanc F, Wolff V, Talmant V, Attali P, Germain P, Flori E, Toutain A, Dollfus H, and Tranchant C

European journal of neurology : the official journal of the European Federation of Neurological Societies 13(12):e3-4, 2006 Dec - Who cited this? | PubMed ID: 17116204 | Fulltext

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

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Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, and Dollfus H

European journal of human genetics : EJHG 14(11):1195-203, 2006 Nov - Who cited this? | PubMed ID: 16823392 | Fulltext

[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].

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Dollfus H, Muller J, Stoetzel C, Laurier V, Bonneau D, Mégarbané A, Poch O, and Mandel JL

Medecine sciences : M/S 22(11):901-4, 2006 Nov - Who cited this? | PubMed ID: 17101080 | Fulltext

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

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Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM,

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European journal of human genetics : EJHG 14(6):773, 2006 Jun - Who cited this? | PubMed ID: 16570074 | Fulltext

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

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Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M,

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Nature genetics 38(5):521-4, 2006 May - Who cited this? | PubMed ID: 16582908 | Fulltext

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

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Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, Lacombe D, Verloes A, Chrzanowska KH, Maegawa GH, Chitayat D, Kotzot D, Huhle D, Meinecke P, Albrecht B, Mathijssen I,

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Journal of medical genetics 43(5):e22, 2006 May - Who cited this? | PubMed ID: 16648375 | Fulltext

[Ondine's Curse and rare oculomotor abnormalities: a case report].

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Michel G, Villega F, Desprez P, Dollfus H, and Speeg-Schatz C

Journal francais d'ophtalmologie 29(4):422-5, 2006 Apr - Who cited this? | PubMed ID: 16885811 | Fulltext

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.

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Cossée M, Demeer B, Blanchet P, Echenne B, Singh D, Hagens O, Antin M, Finck S, Vallee L, Dollfus H, Hegde S, Springell K, Thelma BK, Woods G, Kalscheuer V, and Mandel JL

European journal of human genetics : EJHG 14(4):418-25, 2006 Apr - Who cited this? | PubMed ID: 16493439 | Fulltext

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays.

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Pasquier L, Laugel V, Lazaro L, Dollfus H, Journel H, Edery P, Goldenberg A, Martin D, Heron D, Le Merrer M, Rustin P, Odent S, Munnich A, Sarasin A, and Cormier-Daire V

Archives of disease in childhood 91(2):178, 2006 Feb - Who cited this? | PubMed ID: 16428367 | Fulltext

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.

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Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gécz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R,

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Human genetics 118(5):578-90, 2006 Jan - Who cited this? | PubMed ID: 16249884 | Fulltext

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.

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Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, and Dollfus H

Journal of human genetics 51(1):81-4, 2006 - Who cited this? | PubMed ID: 16308660 | Fulltext

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

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Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J,

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BMC medical genetics 7:41, 2006 - Who cited this? | PubMed ID: 16646960 | Fulltext

Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.

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Hanein S, Perrault I, Gerber S, Dollfus H, Dufier JL, Feingold J, Munnich A, Bhattacharya S, Kaplan J, Sahel JA, Rozet JM, and Leveillard T

Advances in experimental medicine and biology 572:9-14, 2006 - Who cited this? | PubMed ID: 17249548 | Fulltext

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.

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Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, Copp AJ,

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Nature genetics 37(10):1135, 2005 Oct - Who cited this? | PubMed ID: 16170314 | Fulltext

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

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Marlin S, Feldmann D, Blons H, Loundon N, Rouillon I, Albert S, Chauvin P, Garabédian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H,

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Archives of otolaryngology--head & neck surgery 131(6):481-7, 2005 Jun - Who cited this? | PubMed ID: 15967879 | Fulltext

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

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Hichri H, Stoetzel C, Laurier V, Caron S, Sigaudy S, Sarda P, Hamel C, Martin-Coignard D, Gilles M, Leheup B, Holder M, Kaplan J, Bitoun P, Lacombe D, Verloes A, Bonneau D,

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European journal of human genetics : EJHG 13(5):607, 2005 May - Who cited this? | PubMed ID: 15770229 | Fulltext

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

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Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G,

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European journal of human genetics : EJHG 13(3):302, 2005 Mar - Who cited this? | PubMed ID: 15657609 | Fulltext

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

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Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, Ozilou C, Auge J, Brahimi N, Etchevers H, Detrait E, Esculpavit C, Audollent S, Goudefroye G, Gonzales M, Tantau J, Loget P,

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American journal of human genetics 76(3):493-504, 2005 Mar - Who cited this? | PubMed ID: 15666242 | Fulltext

[Update on Bardet-Biedl syndrome].

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Dollfus H, Verloes A, Bonneau D, Cossée M, Perrin-Schmitt F, Brandt C, Flament J, and Mandel JL

Journal francais d'ophtalmologie 28(1):106-12, 2005 Jan - Who cited this? | PubMed ID: 15767906 | Fulltext

Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia.

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Vincent MC, Gallai R, Olivier D, Speeg-Schatz C, Flament J, Calvas P, and Dollfus H

American journal of ophthalmology 138(6):1016-21, 2004 Dec - Who cited this? | PubMed ID: 15629294 | Fulltext

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

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Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Mégarbané A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, and Cormier-Daire V

American journal of human genetics 75(5):801-6, 2004 Nov - Who cited this? | PubMed ID: 15368195 | Fulltext

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

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Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, Dollfus H, Hamel C, Dufier JL, Munnich A, Kaplan J, and Rozet JM

American journal of human genetics 75(4):639-46, 2004 Oct - Who cited this? | PubMed ID: 15322982 | Fulltext

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.

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Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H, Belenguer P, Malthièry Y, Lenaers G, and Bonneau D

Journal of medical genetics 41(9):e110, 2004 Sep - Who cited this? | PubMed ID: 15342707 | Fulltext

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.

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Feldmann D, Denoyelle F, Chauvin P, Garabédian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Le Maréchal C, Dollfus H, Eliot MM, Delaunoy JP,

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American journal of medical genetics. Part A 127(3):263-7, 2004 Jun 15 - Who cited this? | PubMed ID: 15150777 | Fulltext

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

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Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, Calvas P, Dollfus H, Hamel C, Lopponen T, Munier F, Santos L, Shalev S, Zafeiriou D, Dufier JL, Munnich A,

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Human mutation 23(4):306-17, 2004 Apr - Who cited this? | PubMed ID: 15024725 | Fulltext

Dysmorphology and the orbital region: a practical clinical approach.

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Dollfus H and Verloes A

Survey of ophthalmology 49(6):547-61, 2004 - Who cited this? | PubMed ID: 15530943 | Fulltext

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

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Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, and Cormier-Daire V

American journal of medical genetics. Part A 123(2):204-7, 2003 Dec 1 - Who cited this? | PubMed ID: 14598350 | Fulltext

Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.

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Lagier-Tourenne C, Tranebaerg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Bétard C, Warter JM, and Koenig M

European journal of human genetics : EJHG 11(10):770-8, 2003 Oct - Who cited this? | PubMed ID: 14512967 | Fulltext

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

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Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D,

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Human mutation 21(6):656, 2003 Jun - Who cited this? | PubMed ID: 14961560 | Fulltext

Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.

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Dollfus H, Stoetzel C, Riehm S, Lahlou Boukoffa W, Bediard Boulaneb F, Quillet R, Abu-Eid M, Speeg-Schatz C, Francfort JJ, Flament J, Veillon F, and Perrin-Schmitt F

Clinical genetics 63(2):117-20, 2003 Feb - Who cited this? | PubMed ID: 12630957 | Fulltext

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