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<italic>FOXE3</italic> mutations: genotype‐phenotype correlations.
Published in:
Clinical Genetics, 2018, v. 93, n. 4, p. 837, doi. 10.1111/cge.13177
By:
- Plaisancié, J.;
- Ragge, N. K.;
- Dollfus, H.;
- Kaplan, J.;
- Lehalle, D.;
- Francannet, C.;
- Morin, G.;
- Colineaux, H.;
- Calvas, P.;
- Chassaing, N.
Publication type:
Article
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study.
Published in:
Clinical Genetics, 2017, v. 92, n. 5, p. 477, doi. 10.1111/cge.12972
By:
- Tardieu, C.;
- Jung, S.;
- Niederreither, K.;
- Prasad, M.;
- Hadj‐Rabia, S.;
- Philip, N.;
- Mallet, A.;
- Consolino, E.;
- Sfeir, E.;
- Noueiri, B.;
- Chassaing, N.;
- Dollfus, H.;
- Manière, M.C.;
- Bloch‐Zupan, A.;
- Clauss, F.
Publication type:
Article
Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome.
Published in:
Clinical Genetics, 2016, v. 90, n. 1, p. 79, doi. 10.1111/cge.12697
By:
- Braun, J.J.;
- Noblet, V.;
- Kremer, S.;
- Molière, S.;
- Dollfus, H.;
- Marion, V.;
- Goetz, N.;
- Muller, J.;
- Riehm, S.
Publication type:
Article
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.
Published in:
Clinical Genetics, 2015, v. 87, n. 5, p. 430, doi. 10.1111/cge.12437
By:
- Chaussenot, A.;
- Rouzier, C.;
- Quere, M.;
- Plutino, M.;
- Ait‐El‐Mkadem, S.;
- Bannwarth, S.;
- Barth, M.;
- Dollfus, H.;
- Charles, P.;
- Nicolino, M.;
- Chabrol, B.;
- Vialettes, B.;
- Paquis‐Flucklinger, V.
Publication type:
Article
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
Published in:
Clinical Genetics, 2015, v. 87, n. 2, p. 161, doi. 10.1111/cge.12342
By:
- Sathya Priya, C.;
- Sen, P.;
- Umashankar, V.;
- Gupta, N.;
- Kabra, M.;
- Kumaramanickavel, G.;
- Stoetzel, C.;
- Dollfus, H.;
- Sripriya, S.
Publication type:
Article
Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome.
Published in:
Clinical Genetics, 2014, v. 86, n. 6, p. 521, doi. 10.1111/cge.12391
By:
- Braun, J.‐J.;
- Noblet, V.;
- Durand, M.;
- Scheidecker, S.;
- Zinetti‐Bertschy, A.;
- Foucher, J.;
- Marion, V.;
- Muller, J.;
- Riehm, S.;
- Dollfus, H.;
- Kremer, S.
Publication type:
Article
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Published in:
Clinical Genetics, 2014, v. 86, n. 4, p. 326, doi. 10.1111/cge.12275
By:
- Chassaing, N.;
- Causse, A.;
- Vigouroux, A.;
- Delahaye, A.;
- Alessandri, J.‐L.;
- Boespflug‐Tanguy, O.;
- Boute‐Benejean, O.;
- Dollfus, H.;
- Duban‐Bedu, B.;
- Gilbert‐Dussardier, B.;
- Giuliano, F.;
- Gonzales, M.;
- Holder‐Espinasse, M.;
- Isidor, B.;
- Jacquemont, M.‐L.;
- Lacombe, D.;
- Martin‐Coignard, D.;
- Mathieu‐Dramard, M.;
- Odent, S.;
- Picone, O.
Publication type:
Article
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 ( BBS17) mutations.
Published in:
Clinical Genetics, 2014, v. 85, n. 5, p. 476, doi. 10.1111/cge.12198
By:
- Schaefer, E.;
- Lauer, J.;
- Durand, M.;
- Pelletier, V.;
- Obringer, C.;
- Claussmann, A.;
- Braun, J.‐J.;
- Redin, C.;
- Mathis, C.;
- Muller, J.;
- Schmidt‐Mutter, C.;
- Flori, E.;
- Marion, V.;
- Stoetzel, C.;
- Dollfus, H.
Publication type:
Article
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
Published in:
Clinical Genetics, 2014, v. 85, n. 2, p. 172, doi. 10.1111/cge.12129
By:
- M'hamdi, O.;
- Redin, C.;
- Stoetzel, C.;
- Ouertani, I.;
- Chaabouni, M.;
- Maazoul, F.;
- M'rad, R.;
- Mandel, J.L.;
- Dollfus, H.;
- Muller, J.;
- Chaabouni, H.
Publication type:
Article
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Published in:
Clinical Genetics, 2013, v. 84, n. 1, p. 86, doi. 10.1111/cge.12013
By:
- Thauvin‐Robinet, C;
- Thomas, S;
- Sinico, M;
- Aral, B;
- Burglen, L;
- Gigot, N;
- Dollfus, H;
- Rossignol, S;
- Raynaud, M;
- Philippe, C;
- Badens, C;
- Touraine, R;
- Gomes, C;
- Franco, B;
- Lopez, E;
- Elkhartoufi, N;
- Faivre, L;
- Munnich, A;
- Boddaert, N;
- Maldergem, L Van
Publication type:
Article
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.
Published in:
Clinical Genetics, 2011, v. 80, n. 6, p. 523, doi. 10.1111/j.1399-0004.2011.01688.x
By:
- Bennouna-Greene, V;
- Kremer, S;
- Stoetzel, C;
- Christmann, D;
- Schuster, C;
- Durand, M;
- Verloes, A;
- Sigaudy, S;
- Holder-Espinasse, M;
- Godet, J;
- Brandt, C;
- Marion, V;
- Danion, A;
- Dietemann, J-L;
- Dollfus, H
Publication type:
Article
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.
Published in:
Clinical Genetics, 2011, v. 80, n. 2, p. 177, doi. 10.1111/j.1399-0004.2010.01516.x
By:
- Fradin, M.;
- Stoetzel, C.;
- Muller, J.;
- Koob, M.;
- Christmann, D.;
- Debry, C.;
- Kohler, M.;
- Isnard, M.;
- Astruc, D.;
- Desprez, P.;
- Zorres, C.;
- Flori, E.;
- Dollfus, H.;
- Doray, B.
Publication type:
Article
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.
Published in:
Clinical Genetics, 2011, v. 79, n. 3, p. 225, doi. 10.1111/j.1399-0004.2010.01551.x
By:
- Germanaud, D.;
- Rossi, M.;
- Bussy, G.;
- Gérard, D.;
- Hertz-Pannier, L.;
- Blanchet, P.;
- Dollfus, H.;
- Giuliano, F.;
- Bennouna-Greene, V.;
- Sarda, P.;
- Sigaudy, S.;
- Curie, A.;
- Vincent, M. C.;
- Touraine, R.;
- des Portes, V.
Publication type:
Article
Sporadic and familial blepharophimosis –ptosis–epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.
Published in:
Clinical Genetics, 2003, v. 63, n. 2, p. 117, doi. 10.1034/j.1399-0004.2003.00011.x
By:
- 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;
- Perrin-Schmitt, F
Publication type:
Article
Late onset stroke and myocardial infarction in Williams syndrome.
Published in:
2006
By:
- Blanc, F.;
- Wolff, V.;
- Talmant, V.;
- Attali, P.;
- Germain, P.;
- Flori, E.;
- Toutain, A.;
- Dollfus, H.;
- Tranchant, C.
Publication type:
Letter
Amelogenesis Imperfecta.
Published in:
Journal of Dental Research, 2016, v. 95, n. 13, p. 1457, doi. 10.1177/0022034516663200
By:
- Prasad, M. K.;
- Laouina, S.;
- El Alloussi, M.;
- Dollfus, H.;
- Bloch-Zupan, A.
Publication type:
Article
Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.
Published in:
2016
By:
- Prasad, M K;
- Laouina, S;
- El Alloussi, M;
- Dollfus, H;
- Bloch-Zupan, A
Publication type:
journal article
Corrigendum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.
Published in:
2005
By:
- Ross, A. J.;
- May-Simera, H.;
- Eichers, E. R.;
- Kai, M.;
- Hill, J.;
- Jagger, D. J.;
- Leitch, C. C.;
- Chapple, J. P.;
- Munro, P. M.;
- Fisher, S.;
- Tan, P. L.;
- Phillips, H. M.;
- Leroux, M. R.;
- Henderson, D. J.;
- Murdoch, J. N.;
- Copp, A. J.;
- Eliot, M.-M.;
- Lupski, J. R.;
- Kemp, D. T.;
- Dollfus, H.
Publication type:
Correction Notice
Long-Term Follow-Up and Molecular Characterization of a Patient with a RECQL4 Mutation Spectrum Disorder.
Published in:
Dermatology (10188665), 2013, v. 226, n. 4, p. 353, doi. 10.1159/000351311
By:
- Fradin, M.;
- Merklen-Djafri, C.;
- Perrigouard, C.;
- aral, B.;
- Muller, J.;
- Stoetzel, C.;
- Frouin, E.;
- Flori, E.;
- Doray, B.;
- Dollfus, H.;
- Lipsker, D.
Publication type:
Article
Implication of non-coding PAX6 mutations in aniridia.
Published in:
Human Genetics, 2018, v. 137, n. 10, p. 831, doi. 10.1007/s00439-018-1940-x
By:
- Plaisancié, Julie;
- Tarilonte, M.;
- Ramos, P.;
- Jeanton-Scaramouche, C.;
- Gaston, V.;
- Dollfus, H.;
- Aguilera, D.;
- Kaplan, J.;
- Fares-Taie, L.;
- Blanco-Kelly, F.;
- Villaverde, C.;
- Francannet, C.;
- Goldenberg, A.;
- Arroyo, I.;
- Rozet, J. M.;
- Ayuso, C.;
- Chassaing, N.;
- Calvas, P.;
- Corton, M.
Publication type:
Article
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 10, p. 770, doi. 10.1038/sj.ejhg.5201068
By:
- C. Lagier-Tourenne;
- Tranebjaerg, L.;
- Chaigne, D.;
- Gribaa, M.;
- Dollfus, H.;
- Silverstri, G.;
- Betard, C.;
- Warter, J.M.;
- Koenig, M.
Publication type:
Article
OPA3-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia.
Published in:
European Neurology, 2012, v. 68, n. 2, p. 108, doi. 10.1159/000339310
By:
- Ayrignac, X.;
- Liauzun, C.;
- Lenaers, G.;
- Renard, D.;
- Amati-Bonneau, P.;
- de Sèze, J.;
- Dollfus, H.;
- Hamel, C.;
- Bonneau, D.;
- Labauge, P.
Publication type:
Article
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease.
Published in:
Human Mutation, 2007, v. 28, n. 8, p. 790, doi. 10.1002/humu.20517
By:
- de Pontual, L.;
- Pelet, A.;
- Clement-Ziza, M.;
- Trochet, D.;
- Antonarakis, S.E.;
- Attie-Bitach, T.;
- Beales, P.L.;
- Blouin, J.-L.;
- Dastot-Le Moal, F.;
- Dollfus, H.;
- Goossens, M.;
- Katsanis, N.;
- Touraine, R.;
- Feingold, J.;
- Munnich, A.;
- Lyonnet, S.;
- Amiel, J.
Publication type:
Article
Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 12, p. 2201
By:
- Larget-Piet, D.;
- Rozet, J.-M.;
- Gerber, S.;
- Dollfus, H.;
- Munnich, A.;
- Kaplan, J.
Publication type:
Article
Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p.
Published in:
Human Molecular Genetics, 1993, v. 2, n. 7, p. 1081
By:
- Dollfus, H.;
- Rozet, J. -M.;
- Musarella, M. A.;
- Kaplan, J.;
- Munnich, A.
Publication type:
Article

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