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Results: 1-25 | 26-29
Results: 1-25/29
Missense mutations in COL8A2, the gene encoding the alpha 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
Authors: Biswas, S Munier, FL Yardley, J Hart-Holden, N Perveen, R Cousin, P Sutphin, JE Noble, B Batterbury, M Kielty, C Hackett, A Bonshek, R Ridgway, A McLeod, D Sheffield, VC Stone, EM Schorderet, DF Black, GCM
Citation: S. Biswas et al., Missense mutations in COL8A2, the gene encoding the alpha 2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy, HUM MOL GEN, 10(21), 2001, pp. 2415-2423
Rearrangements of minisatellites in the human telomerase reverse transcriptase gene are not correlated with its expression in colon carcinomas
Authors: Szutorisz, H Palmqvist, R Roos, G Stenling, R Schorderet, DF Reddell, R Lingner, J Nabholz, M
Citation: H. Szutorisz et al., Rearrangements of minisatellites in the human telomerase reverse transcriptase gene are not correlated with its expression in colon carcinomas, ONCOGENE, 20(20), 2001, pp. 2600-2605
Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene
Authors: Zankl, A Addor, MC Cousin, P Gaide, AC Gudinchet, F Schorderet, DF
Citation: A. Zankl et al., Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene, EUR J PED, 160(5), 2001, pp. 296-299
A characteristic EEG pattern in 4p-syndrome: case report and review of theliterature
Authors: Zankl, A Addor, MC Maeder-Ingvar, M Schorderet, DF
Citation: A. Zankl et al., A characteristic EEG pattern in 4p-syndrome: case report and review of theliterature, EUR J PED, 160(2), 2001, pp. 123-127
Chromosome 5q31 linked Corneal Dystrophies: Outline of a new classification
Authors: Munier, FL Schorderet, DF
Citation: Fl. Munier et Df. Schorderet, Chromosome 5q31 linked Corneal Dystrophies: Outline of a new classification, KLIN MONATS, 218(3), 2001, pp. 136-139
Cell-permeable peptide inhibitors of JNK novel blockers of beta-cell death
Authors: Bonny, C Oberson, A Negri, S Sauser, C Schorderet, DF
Citation: C. Bonny et al., Cell-permeable peptide inhibitors of JNK novel blockers of beta-cell death, DIABETES, 50(1), 2001, pp. 77-82
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration
Authors: Guymer, RH Heon, E Lotery, AJ Munier, FL Schorderet, DF Baird, PN McNeil, RJ Haines, H Sheffield, VC Stone, EM
Citation: Rh. Guymer et al., Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration, ARCH OPHTH, 119(5), 2001, pp. 745-751
A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22
Authors: Heon, E Paterson, AD Fraser, M Billingsley, G Priston, M Balmer, A Schorderet, DF Verner, A Hudson, TJ Munier, FL
Citation: E. Heon et al., A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22, AM J HU GEN, 68(3), 2001, pp. 772-777
Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychoiogical and language phenotypes
Authors: Eliez, S Palacio-Espasa, F Spira, A Lacroix, M Pont, C Luthi, F Robert-Tissot, C Feinstein, C Schorderet, DF Antonarakis, SE Cramer, B
Citation: S. Eliez et al., Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychoiogical and language phenotypes, EUR CHILD A, 9(2), 2000, pp. 109-114
An uncommon G375C substitution in a newborn with achondroplasia
Authors: Addor, MC Gudinchet, F Truttmann, A Schorderet, DF
Citation: Mc. Addor et al., An uncommon G375C substitution in a newborn with achondroplasia, GEN COUNSEL, 11(2), 2000, pp. 169-174
cDNA cloning and mapping of a novel islet-brain/JNK-interacting protein
Authors: Negri, S Oberson, A Steinmann, M Sauser, C Nicod, P Waeber, G Schorderet, DF Bonny, C
Citation: S. Negri et al., cDNA cloning and mapping of a novel islet-brain/JNK-interacting protein, GENOMICS, 64(3), 2000, pp. 324-330
Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome
Authors: Zankl, A Addor, MC Gaide, AC Thonney, F Cousin, P Schorderet, DF Gudinchet, F Nenadov-Beck, M
Citation: A. Zankl et al., Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome, AM J MED G, 95(5), 2000, pp. 510-512
Allelic variation in the VMD2 gene in best disease and age-related maculardegeneration
Authors: Lotery, AJ Munier, FL Fishman, GA Weleber, RG Jacobson, SG Affatigato, LM Nichols, BE Schorderet, DF Sheffield, VC Stone, EM
Citation: Aj. Lotery et al., Allelic variation in the VMD2 gene in best disease and age-related maculardegeneration, INV OPHTH V, 41(6), 2000, pp. 1291-1296
Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: An epithelial origin?
Authors: Ridgway, AEA Akhtar, S Munier, FL Schorderet, DF Stewart, H Perveen, R Bonshek, RE Odenthal, MTP Dixon, M Barraquer, R Escoto, R Black, GCM
Citation: Aea. Ridgway et al., Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: An epithelial origin?, INV OPHTH V, 41(11), 2000, pp. 3286-3292
Genetic heterogeneity of the Coppock-like cataract: A mutation in CRYBB2 on chromosome 22q11.2
Authors: Gill, D Klose, R Munier, FL McFadden, M Priston, M Billingsley, G Ducrey, N Schorderet, DF Heon, E
Citation: D. Gill et al., Genetic heterogeneity of the Coppock-like cataract: A mutation in CRYBB2 on chromosome 22q11.2, INV OPHTH V, 41(1), 2000, pp. 159-165
Registration of congenital anomalies in Switzerland by EUROCAT (vol 130, pg 1319, 2000)
Authors: Addor, MC Pescia, G Schorderet, DF
Citation: Mc. Addor et al., Registration of congenital anomalies in Switzerland by EUROCAT (vol 130, pg 1319, 2000), SCHW MED WO, 130(51-52), 2000, pp. 2026-2026
Registration of congenital anomalies in Switzerland by EUROCAT
Authors: Addor, MC Pescia, G Schorderet, DF
Citation: Mc. Addor et al., Registration of congenital anomalies in Switzerland by EUROCAT, SCHW MED WO, 130(38), 2000, pp. 1319-1325
IB1 reduces cytokine-induced apoptosis of insulin-secreting cells
Authors: Bonny, C Oberson, A Steinmann, M Schorderet, DF Nicod, P Waeber, G
Citation: C. Bonny et al., IB1 reduces cytokine-induced apoptosis of insulin-secreting cells, J BIOL CHEM, 275(22), 2000, pp. 16466-16472
Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein
Authors: Korvatska, E Henry, H Mashima, Y Yamada, M Bachmann, C Munier, FL Schorderet, DF
Citation: E. Korvatska et al., Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein, J BIOL CHEM, 275(15), 2000, pp. 11465-11469
Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene
Authors: Schorderet, DF Menasche, M Morand, S Bonnel, S Buchillier, V Marchant, D Auderset, K Bonny, C Abitbol, M Munier, FL
Citation: Df. Schorderet et al., Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene, BIOC BIOP R, 274(2), 2000, pp. 267-274
Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
Authors: Macari, F Landau, M Cousin, P Mevorah, B Brenner, S Panizzon, R Schorderet, DF Hohl, D Huber, M
Citation: F. Macari et al., Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis, AM J HU GEN, 67(5), 2000, pp. 1296-1301
Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome4q35
Authors: Jiao, XD Munier, FL Iwata, F Hayakawa, M Kanai, A Lee, J Schorderet, DF Chen, MS Kaiser-Kupfer, M Hejtmancik, JF
Citation: Xd. Jiao et al., Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome4q35, AM J HU GEN, 67(5), 2000, pp. 1309-1313
The gene mutated in thiamine-responsive anaemia with diabetes and deafness(TRMA) encodes a functional thiamine transporter
Authors: Fleming, JC Tartaglini, E Steinkamp, MP Schorderet, DF Cohen, N Neufeld, EJ
Citation: Jc. Fleming et al., The gene mutated in thiamine-responsive anaemia with diabetes and deafness(TRMA) encodes a functional thiamine transporter, NAT GENET, 22(3), 1999, pp. 305-308
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
Authors: Stone, EM Lotery, AJ Munier, FL Heon, E Piguet, B Guymer, RH Vandenburgh, K Cousin, P Nishimura, D Swiderski, RE Silvestri, G Mackey, DA Hageman, GS Bird, AC Sheffield, VC Schorderet, DF
Citation: Em. Stone et al., A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy, NAT GENET, 22(2), 1999, pp. 199-202
Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1) c-Jun-amino-terminal kinase interacting protein-1 (JIP-1) gene
Authors: Mooser, V Maillard, A Bonny, C Steinmann, M Shaw, P Yarnall, DP Burns, DK Schorderet, DF Nicod, P Waeber, G
Citation: V. Mooser et al., Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1) c-Jun-amino-terminal kinase interacting protein-1 (JIP-1) gene, GENOMICS, 55(2), 1999, pp. 202-208
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