Further delineation of the phenotype caused by biallelic variants in the WDR4 gene von Trimouille, A., Lasseaux, E., Barat, P., Deiller, C., Drunat, S., Rooryck, C., Arveiler, B., Lacombe, D.

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Management of albinism: French guidelines for diagnosis and care von Moreno‐Artero, E., Morice‐Picard, F., Bremond‐Gignac, D., Drumare‐Bouvet, I., Duncombe‐Poulet, C., Leclerc‐Mercier, S., Dufresne, H., Kaplan, J., Jouanne, B., Arveiler, B., Taieb, A., Hadj‐Rabia, S.

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Lentiginosis and café‐au‐lait macules as part of the phenotypic spectrum of PAX3‐related disorders von Morice‐Picard, F., Letertre, O., Lasseaux, E., Cario‐Andre, M., Arveiler, B., Taieb, A.

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Fetal phenotypes in otopalatodigital spectrum disorders von Naudion, S., Moutton, S., Coupry, I., Sole, G., Deforges, J., Guerineau, E., Hubert, C., Deves, S., Pilliod, J., Rooryck, C., Abel, C., Le Breton, F., Collardeau-Frachon, S., Cordier, M.P., Delezoide, A.L., Goldenberg, A., Loget, P., Melki, J., Odent, S., Patrier, S., Verloes, A., Viot, G., Blesson, S., Bessières, B., Lacombe, D., Arveiler, B., Goizet, C., Fergelot, P.

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Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases von Kerr, B, Delrue, M-A, Sigaudy, S, Perveen, R, Marche, M, Burgelin, I, Stef, M, Tang, B, Eden, O B, O’Sullivan, J, De Sandre-Giovannoli, A, Reardon, W, Brewer, C, Bennett, C, Quarell, O, M’Cann, E, Donnai, D, Stewart, F, Hennekam, R, Cavé, H, Verloes, A, Philip, N, Lacombe, D, Levy, N, Arveiler, B, Black, G

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ADAR1 splicing mutation leading to dyschromatosis hereditaria in a Caucasian patient von Petre, J., Lasseaux, E., Ged, C., Arveiler, B., Taïeb, A., Morice‐Picard, F.

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Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents von Houcinat, N., Llanas, B., Moutton, S., Toutain, J., Cailley, D., Arveiler, B., Combe, C., Lacombe, D., Rooryck, C.

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Normal pigment production von ARVEILER, B

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Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations von Solé, G, Coupry, I, Rooryck, C, Guérineau, E, Martins, F, Devés, S, Hubert, C, Souakri, N, Boute, O, Marchal, C, Faivre, L, Landré, E, Debruxelles, S, Dieux-Coeslier, A, Boulay, C, Chassagnon, S, Michel, V, Routon, M-C, Toutain, A, Philip, N, Lacombe, D, Villard, L, Arveiler, B, Goizet, C

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8 The importance of functional tests to assess the effect of a new CFTR variant when genotype-phenotype correlation is not possible von Hinzpeter, A, Reboul, M.-P, Zordan, C, Costes, B, Guichoux, J, Iron, A, Lacombe, D, Martin, N, Arveiler, B, Fanen, P, Fergelot, P, Girodon, E

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Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated with infliximab therapy von ROORYCK, C, BARNETCHE, T, RICHEZ, C, LALEYE, A, ARVEILER, B, SCHAEVERBEKE, T

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Genomic structure and localisation within a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia von MILLAR, J. K, CHRISTIE, S, ANDERSON, S, LAWSON, D, LOH, D. Hsiao-Wei, DEVON, R. S, ARVEILER, B, MUIR, W. J, BLACKWOOD, D. H. R, PORTEOUS, D. J

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Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome von Coupry, I, Roudaut, C, Stef, M, Delrue, M-A, Marche, M, Burgelin, I, Taine, L, Cruaud, C, Lacombe, D, Arveiler, B

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Analysis of the effect of aluminum in drinking water and transferrin C2 allele on Alzheimer's disease von Rondeau, V., Iron, A., Letenneur, L., Commenges, D., Duchêne, F., Arveiler, B., Dartigues, J.-F.

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Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female von Alao, M.J, Lalèyè, A, Lalya, F, Hans, Ch, Abramovicz, M, Morice-Picard, F, Arveiler, B, Lacombe, D, Rooryck, C

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Bardet-Biedl Syndrome and Brain Abnormalities von Rooryck, C., Pelras, S., Chateil, J.-F., Cances, C., Arveiler, B., Verloes, A., Lacombe, D., Goizet, C.

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Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome von Bloch-Zupan, A., Stachtou, J., Emmanouil, D., Arveiler, B., Griffiths, D., Lacombe, D.

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Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene von Isidor, B., Podevin, G., Camby, C., Mosnier, J.-F., Chauty, A., Lyet, J.-M., Fergelot, P., Lacombe, D., Arveiler, B., Pelet, A., Amiel, J., David, A.

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Mosaic maternal uniparental isodisomy for chromosome 7q21-qter von Reboul, M-P, Tandonnet, O, Biteau, N, Belet-de Putter, C, Rebouissoux, L, Moradkhani, K, Vu, PY, Saura, R, Arveiler, B, Lacombe, D, Taine, L, Iron, A

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Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome von Nava, Caroline, Hanna, Nadine, Michot, Caroline, Pereira, Sabrina, Pouvreau, Nathalie, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Arveiler, Benoit, Lacombe, Didier, Pasmant, Eric, Parfait, Béatrice, Baumann, Clarisse, Héron, Delphine, Sigaudy, Sabine, Toutain, Annick, Rio, Marlène, Goldenberg, Alice, Leheup, Bruno, Verloes, Alain, Cavé, Hélène

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