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收藏Variation in Novel Exons (RACEfrags) of the MECP2 Gene in Rett Syndrome Patients and Controls
Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; Deutsch, Samuel; Guigo, Roderic; Denoeud, France; Drenkow, Jorg; Rossier, Colette; Ariani, Francesca; Capra, Valeria; Excoffier, Laurent; Renieri, Alessandra; Gingeras, Thomas R.; Antonarakis, Stylianos E. 分享 收藏 Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation ScreeningD'haene, Barbara; Attanasio, Catia; Beysen, Diane; Dostie, Josee; Lemire, Edmond; Bouchard, Philippe; Field, Michael; Jones, Kristie; Lorenz, Birgit; Menten, Bjorn; Buysse, Karen; Pattyn, Filip; Friedli, Marc; Ucla, Catherine; Rossier, Colette; Wyss, Carine; Speleman, Frank; De Paepe, Anne; Dekker, Job; Antonarakis, Stylianos E.; De Baere, Elfride 分享 收藏 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesiaFailly, M.; Bartoloni, L.; Letourneau, A.; Munoz, A.; Falconnet, E.; Rossier, C.; de Santi, M. M.; Santamaria, F.; Sacco, O.; DeLozier-Blanchet, C. D.; Lazor, R.; Blouin, J-L 分享 收藏 Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutationsSchwabe, Georg C.; Hoffmann, Katrin; Loges, Niki Tomas; Birker, Daniel; Rossier, Colette; De Santi, Margherita M.; Olbrich, Heike; Fliegauf, Manfred; Failly, Mike; Leibers, Uta; Collura, Mirella; Gaedicke, Gerhard; Mundlos, Stefan; Wahn, Ulrich; Blouin, Jean-Louis; Niggemann, Bodo; Omran, Heymut; Antonarakis, Stylianos E.; Bartoloni, Lucia 分享 收藏 GENCODE: producing a reference annotation for ENCODEGENCODE: 为ENCODE生成引用注释Harrow, Jennifer; Denoeud, France; Frankish, Adam; Reymond, Alexandre; Chen, Chao-Kung; Chrast, Jacqueline; Lagarde, Julien; Gilbert, James Gr; Storey, Roy; Swarbreck, David; Rossier, Colette; Ucla, Catherine; Hubbard, Tim; Antonarakis, Stylianos E.; Guigo, Roderic 分享 收藏 Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesiaBartoloni, L; Blouin, JL; Pan, YZ; Gehrig, C; Maiti, AK; Scamuffa, N; Rossier, C; Jorissen, M; Armengot, M; Meeks, M; Mitchison, HM; Chung, EMK; Delozier-Blanchet, CD; Craigen, WJ; Antonarakis, SE 分享 收藏 Nineteen additional unpredicted transcripts from human chromosome 21Reymond, A; Camargo, AA; Deutsch, S; Stevenson, BJ; Parmigiani, RB; Ucla, C; Bettoni, F; Rossier, C; Lyle, R; Guipponi, M; de Souza, S; Iseli, C; Jongeneel, CV; Bucher, P; Simpson, AJG; Antonarakis, SE 分享 收藏 Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness (vol 18, pg 101, 2001)Masmoudi, S; Antonarakis, SE; Schwede, T; Ghorbel, AM; Grati, M; Pappasavas, MP; Drira, M; Elgaied-Boulila, A; Wattenhofer, M; Rossier, C; Scott, HS; Ayadi, H; Guipponi, M 分享 收藏 From PREDs and open reading frames to cDNA isolation: Revisiting the human chromosome 21 transcription map从pred和开放阅读框到cDNA隔离: 重新审视人类21号染色体转录图Reymond, A; Friedli, M; Henrichsen, CN; Chapot, F; Deutsch, S; Ucla, C; Rossier, C; Lyle, R; Guipponi, M; Antonarakis, SE 分享 收藏 The murine orthologue of the golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene familyGuipponi, M; Tapparel, C; Jousson, O; Sacmuffa, N; Mas, C; Rossier, C; Hutter, P; Meda, P; Lyle, R; Reymond, A; Antonarakis, SE 分享 收藏 Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domainsWattenhofer, M; Shibuya, K; Kudoh, J; Lyle, R; Michaud, J; Rossier, C; Kawasaki, K; Asakawa, S; Minoshima, S; Berry, A; Bonne-Tamir, B; Shimizu, N; Antonarakis, SE; Scott, HS 分享 收藏 Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesiaBartoloni, L; Blouin, JL; Maiti, AK; Sainsbury, A; Rossier, C; Gehrig, C; She, JX; Marron, MP; Lander, ES; Meeks, M; Chung, E; Armengot, M; Jorissen, M; Scott, HS; Delozier-Blanchet, CD; Gardiner, RM; Antonarakis, SE 分享 收藏 Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafnessMasmoudi, S; Antonarakis, SE; Schwede, T; Ghorbel, AM; Gratri, M; Pappasavas, MP; Drira, M; Elgaied-Boutila, A; Wattenhofer, M; Rossier, C; Scott, HS; Ayadi, H; Guipponi, M 分享 收藏 Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafnessScott, HS; Kudoh, J; Wattenhofer, M; Shibuya, K; Berry, A; Chrast, R; Guipponi, M; Wang, J; Kawasaki, K; Asakawa, S; Minoshima, S; Younus, F; Mehdi, SQ; Radhakrishna, U; Papasavvas, MP; Gehrig, C; Rossier, C; Korostishevsky, M; Gal, A; Shimizu, N; Bonne-Tamir, B; Antonarakis, SE 分享 收藏 Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 ou G3PP) on 21q22.3: Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiencyBartoloni, L; Wattenhofer, M; Kudoh, J; Berry, A; Shibuya, K; Kawasaki, K; Wang, J; Asakawa, S; Talior, I; Bonne-Tamir, B; Rossier, C; Michaud, J; McCabe, ERB; Minoshima, S; Shimizu, N; Scott, HS; Antonarakis, SE 分享 收藏 Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the regionBerry, A; Scott, HS; Kudoh, J; Talior, I; Korostishevsky, M; Wattenhofer, M; Guipponi, M; Barras, C; Rossier, C; Shibuya, K; Wang, J; Kawasaki, K; Asakawa, S; Minoshima, S; Shimizu, N; Antonarakis, S; Bonné-Tamir, B 分享 收藏 Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat proteinMichaud, J; Kudoh, J; Berry, A; Bonne-Tamir, B; Lalioti, MD; Rossier, C; Shibuya, K; Kawasaki, K; Asakawa, S; Minoshima, S; Shimizu, N; Antonarakis, SE; Scott, HS 分享 收藏 C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterningGuipponi, M; Brunschwig, K; Chamoun, Z; Scott, HS; Shibuya, K; Kudoh, J; Delezoide, AL; El Samadi, S; Chettouh, Z; Rossier, C; Shimizu, N; Mueller, F; Delabar, JM; Antonarakis, SE 分享 收藏 Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1)Roessler, E; Mittaz, L; Du, YZ; Scott, HS; Chang, J; Rossier, C; Guipponi, M; Matsuda, SPT; Muenke, M; Antonarakis, SE 分享 收藏 
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