PubMed

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent M, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias E, Tolmie J, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Del Pozo JS, Muñoz E, Gennery A, Salih M, Noruzinia M, Prescott K, Ramos L, Stark Z, Fieggen K, Chabrol B, Sarda P, Edery P, Bloch-Zupan A, Fawcett H, Pham D, Egly J, Lehmann A, Sarasin A, Dollfus H.

Hum Mutat. 2009 Nov 5. [Epub ahead of print]PMID: 19894250 [PubMed - as supplied by publisher]Related articles

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.

Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B.

Proc Natl Acad Sci U S A. 2009 Nov 17;106(46):19581-6. Epub 2009 Nov 3.PMID: 19887631 [PubMed - in process]Related articles

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

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, Dollfus H.

Am J Med Genet A. 2009 Oct;149A(10):2141-6.PMID: 19764023 [PubMed - in process]Related articles

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

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, Badano JL, McCallion AS, Katsanis N, Amiel J.

Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13921-6. Epub 2009 Jul 31.PMID: 19666486 [PubMed - indexed for MEDLINE]Related articles

[Epidemiology of age related macular degeneration]

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

J Fr Ophtalmol. 2009 Jun;32(6):440-51. Epub 2009 Jun 9. French. PMID: 19515460 [PubMed - in process]Related articles

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

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, Amati-Bonneau P.

Hum Mutat. 2009 Jul;30(7):E692-705.PMID: 19319978 [PubMed - indexed for MEDLINE]Related articles

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

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, Michaelides M, Moore AT, Kirkham J, Inglehearn CF.

Am J Hum Genet. 2009 Feb;84(2):266-73. Epub 2009 Feb 5.PMID: 19200525 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):1820-5. Epub 2009 Feb 3.PMID: 19190184 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Hennies HC, Horn D.

Hum Mutat. 2009 Feb;30(2):E404-20.PMID: 19006247 [PubMed - indexed for MEDLINE]Related articles

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

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

J Med Genet. 2008 Sep;45(9):564-71. Epub 2008 Jul 15.PMID: 18628313 [PubMed - indexed for MEDLINE]Related articles

Hereditary optic neuropathies share a common mitochondrial coupling defect.

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

Ann Neurol. 2008 Jun;63(6):794-8.PMID: 18496845 [PubMed - indexed for MEDLINE]Related articles

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

Dollfus H, Pelletier V.

Rev Prat. 2007 Nov 30;57(18):2000-1. French. No abstract available. PMID: 18389551 [PubMed - indexed for MEDLINE]Related articles

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

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

Nat Genet. 2008 Apr;40(4):443-8. Epub 2008 Mar 9. Erratum in: Nat Genet. 2008 Jul;40(7):927. Al-Fadhel, Majid [corrected to Alfadhel, Majid]. PMID: 18327255 [PubMed - indexed for MEDLINE]Related articles

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

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

Eur J Hum Genet. 2008 Mar;16(3):320-7. Epub 2008 Jan 9.PMID: 18183039 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Dollfus H, Eliot MM, Faivre L, Duvillard C, Couderc R, Garabedian EN, Petit C, Feldmann D, Denoyelle F.

Eur J Hum Genet. 2007 Nov;15(11):1145-55. Epub 2007 Jul 18.PMID: 17637808 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Amiel J.

Hum Mutat. 2007 Aug;28(8):790-6.PMID: 17397038 [PubMed - indexed for MEDLINE]Related articles

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

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

Hum Mutat. 2007 Apr;28(4):416.PMID: 17345604 [PubMed - indexed for MEDLINE]Related articles

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

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

Adv Exp Med Biol. 2006;572:9-14. No abstract available. PMID: 17249548 [PubMed - indexed for MEDLINE]Related articles

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

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

Am J Med Genet A. 2007 Jan 15;143(2):208-13. No abstract available. PMID: 17163542 [PubMed - indexed for MEDLINE]Related articles

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

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, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H.

Am J Hum Genet. 2007 Jan;80(1):1-11. Epub 2006 Nov 15.PMID: 17160889 [PubMed - indexed for MEDLINE]Related articlesFree article

Late onset stroke and myocardial infarction in Williams syndrome.

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

Eur J Neurol. 2006 Dec;13(12):e3-4. No abstract available. PMID: 17116204 [PubMed - indexed for MEDLINE]Related articles

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

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

Med Sci (Paris). 2006 Nov;22(11):901-4. French. No abstract available. PMID: 17101080 [PubMed - indexed for MEDLINE]Related articles

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

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

J Neurol Neurosurg Psychiatry. 2007 Jun;78(6):656-7. Epub 2006 Nov 6. No abstract available. PMID: 17088329 [PubMed - indexed for MEDLINE]Related articles

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

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, Rozet JM.

Hum Mutat. 2007 Jan;28(1):81-91.PMID: 16969763 [PubMed - indexed for MEDLINE]Related articles

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

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

J Fr Ophtalmol. 2006 Apr;29(4):422-5. French. PMID: 16885811 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Dollfus H.

Eur J Hum Genet. 2006 Nov;14(11):1195-203. Epub 2006 Jul 5.PMID: 16823392 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Pathol Biol (Paris). 2007 Feb;55(1):29-36. Epub 2006 May 11.PMID: 16690229 [PubMed - indexed for MEDLINE]Related articles

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

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, Leheup B, Raile K, Hennies HC, Horn D.

J Med Genet. 2006 May;43(5):e22.PMID: 16648375 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Dufier JL, Marsac C, Menasche M, Abitbol M.

BMC Med Genet. 2006 Apr 28;7:41.PMID: 16646960 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H.

Nat Genet. 2006 May;38(5):521-4. Epub 2006 Apr 2. Erratum in: Nat Genet. 2006 Jun;38(6):727. Da Silva, Eduardo [corrected to Silva, Eduardo D]. PMID: 16582908 [PubMed - indexed for MEDLINE]Related articles

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

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, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabédian EN, Couderc R, Marlin S, Denoyelle F.

Eur J Hum Genet. 2006 Jun;14(6):773-9.PMID: 16570074 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Mandel JL.

Eur J Hum Genet. 2006 Apr;14(4):418-25.PMID: 16493439 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Cormier-Daire V.

Arch Dis Child. 2006 Feb;91(2):178-82.PMID: 16428367 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

J Hum Genet. 2006;51(1):81-4. Epub 2005 Nov 25.PMID: 16308660 [PubMed - indexed for MEDLINE]Related articles

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

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, Kalscheuer V, Hanauer A.

Hum Genet. 2006 Jan;118(5):578-90. Epub 2005 Oct 26.PMID: 16249884 [PubMed - indexed for MEDLINE]Related articles

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

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, Eliot MM, Lupski JR, Kemp DT, Dollfus H, Tada M, Katsanis N, Forge A, Beales PL.

Nat Genet. 2005 Oct;37(10):1135-40. Epub 2005 Sep 18. Erratum in: Nat Genet. 2005 Dec;37(12):1381. PMID: 16170314 [PubMed - indexed for MEDLINE]Related articles

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

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, Lemarechal C, Dollfus H, Eliot MM, Delaunoy JL, David A, Calais C, Drouin-Garraud V, Obstoy MF, Goizet C, Duriez F, Fellmann F, Hélias J, Vigneron J, Montaut B, Matin-Coignard D, Faivre L, Baumann C, Lewin P, Petit C, Denoyelle F.

Arch Otolaryngol Head Neck Surg. 2005 Jun;131(6):481-7.PMID: 15967879 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Perrin-Schmitt F, Brandt C, Besancon AF, Mandel JL, Cossée M, Dollfus H.

Eur J Hum Genet. 2005 May;13(5):607-16.PMID: 15770229 [PubMed - indexed for MEDLINE]Related articlesFree article

[Update on Bardet-Biedl syndrome]

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

J Fr Ophtalmol. 2005 Jan;28(1):106-12. Review. French. PMID: 15767906 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Joubert M, Gaillard D, Jeanne-Pasquier C, Delezoide AL, Peter MO, Plessis G, Simon-Bouy B, Dollfus H, Le Merrer M, Munnich A, Encha-Razavi F, Vekemans M, Attié-Bitach T.

Am J Hum Genet. 2005 Mar;76(3):493-504. Epub 2005 Jan 21.PMID: 15666242 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B.

Eur J Hum Genet. 2005 Mar;13(3):302-8.PMID: 15657609 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Am J Ophthalmol. 2004 Dec;138(6):1016-21.PMID: 15629294 [PubMed - indexed for MEDLINE]Related articles

Dysmorphology and the orbital region: a practical clinical approach.

Dollfus H, Verloes A.

Surv Ophthalmol. 2004 Nov-Dec;49(6):547-61. Review.PMID: 15530943 [PubMed - indexed for MEDLINE]Related articles

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

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

Am J Hum Genet. 2004 Nov;75(5):801-6. Epub 2004 Sep 13.PMID: 15368195 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, Bonneau D.

J Med Genet. 2004 Sep;41(9):e110. No abstract available. PMID: 15342707 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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

Am J Hum Genet. 2004 Oct;75(4):639-46. Epub 2004 Aug 20.PMID: 15322982 [PubMed - indexed for MEDLINE]Related articlesFree article

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

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, David A, Calais C, Drouin-Garraud V, Obstoy MF, Bouccara D, Sterkers O, Huy PT, Goizet C, Duriez F, Fellmann F, Hélias J, Vigneron J, Montaut B, Lewin P, Petit C, Marlin S.

Am J Med Genet A. 2004 Jun 15;127A(3):263-7.PMID: 15150777 [PubMed - indexed for MEDLINE]Related articles

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

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, Rozet JM, Kaplan J.

Hum Mutat. 2004 Apr;23(4):306-17.PMID: 15024725 [PubMed - indexed for MEDLINE]Related articles

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

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, Malthièry Y, Hamel C, Reynier P.

Hum Mutat. 2003 Jun;21(6):656.PMID: 14961560 [PubMed - indexed for MEDLINE]Related articles

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

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

Am J Med Genet A. 2003 Dec 1;123A(2):204-7. Review.PMID: 14598350 [PubMed - indexed for MEDLINE]Related articles