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Results: 1-19 |
Results: 19
Gene polymorphism in Netherton and common atopic disease
Authors: Walley, AJ Chavanas, S Moffatt, ME Esnouf, RM Ubhi, B Lawrence, R Wong, K Abecasis, GR Jones, EY Harper, JL Hovnanian, A Cookson, WOCM
Citation: Aj. Walley et al., Gene polymorphism in Netherton and common atopic disease, NAT GENET, 29(2), 2001, pp. 175-178
Severe hypernatremic dehydration in an infant with Netherton syndrome
Authors: Stoll, C Alembik, Y Tchomakov, D Messer, J Heid, E Boehm, N Calvas, P Hovnanian, A
Citation: C. Stoll et al., Severe hypernatremic dehydration in an infant with Netherton syndrome, GEN COUNSEL, 12(3), 2001, pp. 237-243
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenataldiagnosis
Authors: Sprecher, E Chavanas, S DiGiovanna, JJ Amin, S Nielsen, K Prendiville, JS Silverman, R Esterly, NB Spraker, MK Guelig, E de Luna, ML Williams, ML Buehler, B Siegfried, EC Van Maldergem, L Pfendner, E Bale, SJ Uitto, J Hovnanian, A Richard, G
Citation: E. Sprecher et al., The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenataldiagnosis, J INVES DER, 117(2), 2001, pp. 179-187
Mutations in SPINK5, encoding a serine protease inhibitor, cause Nethertonsyndrome
Authors: Chavanas, S Bodemer, C Rochat, A Hamel-Teillac, D Ali, M Irvine, AD Bonafe, JL Wilkinson, J Taieb, A Barrandon, Y Harper, JI de Prost, Y Hovnanian, A
Citation: S. Chavanas et al., Mutations in SPINK5, encoding a serine protease inhibitor, cause Nethertonsyndrome, NAT GENET, 25(2), 2000, pp. 141-142
Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping
Authors: Kibar, Z Dube, MP Powell, J McCuaig, C Hayflick, SJ Zonana, J Hovnanian, A Radhakrishna, U Antonarakis, SE Benohanian, A Sheeran, AD Stephan, ML Gosselin, R Kelsell, DP Christianson, AL Fraser, FC Kaloustian, VMD Rouleau, GA
Citation: Z. Kibar et al., Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping, EUR J HUM G, 8(5), 2000, pp. 372-380
Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusionof 10 genes including the hairless gene by mutation analysis
Authors: Lefevre, P Rochat, A Bodemer, C Vabres, P Barrandon, Y de Prost, Y Garner, C Hovnanian, A
Citation: P. Lefevre et al., Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusionof 10 genes including the hairless gene by mutation analysis, EUR J HUM G, 8(4), 2000, pp. 273-279
Stable integration of large (> 100 kb) PAC constructs in HaCaT keratinocytes using an integrin-targeting peptide delivery system
Authors: Compton, SH Mecklenbeck, S Mejia, JE Hart, SL Rice, M Cervini, R Barrandon, Y Larin, Z Levy, ER Bruckner-Tuderman, L Hovnanian, A
Citation: Sh. Compton et al., Stable integration of large (> 100 kb) PAC constructs in HaCaT keratinocytes using an integrin-targeting peptide delivery system, GENE THER, 7(18), 2000, pp. 1600-1605
Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump
Authors: Sudbrak, R Brown, J Dobson-Stone, C Carter, S Ramser, J White, J Healy, E Dissanayake, M Larregue, M Perrussel, M Lehrach, H Munro, CS Strachan, T Burge, S Hovnanian, A Monaco, AP
Citation: R. Sudbrak et al., Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump, HUM MOL GEN, 9(7), 2000, pp. 1131-1140
Characterization of the gene encoding the 100-kDa form of human 2 ',5 ' Oligoadenylate synthetase
Authors: Rebouillat, D Hovnanian, A David, G Hovanessian, AG Williams, BRG
Citation: D. Rebouillat et al., Characterization of the gene encoding the 100-kDa form of human 2 ',5 ' Oligoadenylate synthetase, GENOMICS, 70(2), 2000, pp. 232-240
Mosaicism for ATP2A2 mutations causes segmental Darier's disease
Authors: Sakuntabhai, A Dhitavat, J Burge, S Hovnanian, A
Citation: A. Sakuntabhai et al., Mosaicism for ATP2A2 mutations causes segmental Darier's disease, J INVES DER, 115(6), 2000, pp. 1144-1147
Role of Sp1 response element in transcription of the human transglutaminase 1 gene
Authors: Jessen, BA Phillips, MA Hovnanian, A Rice, RH
Citation: Ba. Jessen et al., Role of Sp1 response element in transcription of the human transglutaminase 1 gene, J INVES DER, 115(1), 2000, pp. 113-117
Grover's disease, despite histological similarity to Darier's disease, does not share an abnormality in the ATP2A2 gene
Authors: Powell, J Sakuntabhai, A James, M Burge, S Hovnanian, A
Citation: J. Powell et al., Grover's disease, despite histological similarity to Darier's disease, does not share an abnormality in the ATP2A2 gene, BR J DERM, 143(3), 2000, pp. 658-658
Localization of the Netherton syndrome gene to chromosome 5q32, by linkageanalysis and homozygosity mapping
Authors: Chavanas, S Garner, C Bodemer, C Ali, M Hamel-Teillac, D Wilkinson, J Bonafe, JL Paradisi, M Kelsell, DP Ansai, S Mitsuhashi, Y Larregue, M Leigh, IM Harper, JI Taieb, A de Prost, Y Cardon, LR Hovnanian, A
Citation: S. Chavanas et al., Localization of the Netherton syndrome gene to chromosome 5q32, by linkageanalysis and homozygosity mapping, AM J HU GEN, 66(3), 2000, pp. 914-921
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease
Authors: Sakuntabhai, A Ruiz-Perez, V Carter, S Jacobsen, N Burge, S Monk, S Smith, M Munro, CS O'Donovan, M Craddock, N Kucherlapati, R Rees, JL Owen, M Lathrop, GM Monaco, AP Strachan, T Hovnanian, A
Citation: A. Sakuntabhai et al., Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease, NAT GENET, 21(3), 1999, pp. 271-277
Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex
Authors: Rugg, EL Rachet-Prehu, MO Rochat, A Barrandon, Y Goossens, M Lane, EB Hovnanian, A
Citation: El. Rugg et al., Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex, EUR J HUM G, 7(3), 1999, pp. 293-300
Spectrum of novel ATP2A2 mutations in patients with Darier's disease
Authors: Sakuntabhai, A Burge, S Monk, S Hovnanian, A
Citation: A. Sakuntabhai et al., Spectrum of novel ATP2A2 mutations in patients with Darier's disease, HUM MOL GEN, 8(9), 1999, pp. 1611-1619
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
Authors: Maestrini, E Korge, BP Ocana-Sierra, J Calzolari, E Cambiaghi, S Scudder, PM Hovnanian, A Monaco, AP Munro, CS
Citation: E. Maestrini et al., A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families, HUM MOL GEN, 8(7), 1999, pp. 1237-1243
The human 2 ',5 '-oligoadenylate synthetase-like gene (OASL) encoding the interferon-induced 56-kDa protein maps to chromosome 12q24.2 in the proximity of the 2 ',5 '-OAS locus
Authors: Hovnanian, A Rebouillat, D Levy, ER Mattei, MG Hovanessian, AG
Citation: A. Hovnanian et al., The human 2 ',5 '-oligoadenylate synthetase-like gene (OASL) encoding the interferon-induced 56-kDa protein maps to chromosome 12q24.2 in the proximity of the 2 ',5 '-OAS locus, GENOMICS, 56(3), 1999, pp. 362-363
The 100-kDa 2 ',5 '-oligoadenylate synthetase catalyzing preferentially the synthesis of dimeric pppA2 ' p5 ' A molecules is composed of three homologous domains
Authors: Rebouillat, D Hovnanian, A Marie, I Hovanessian, AG
Citation: D. Rebouillat et al., The 100-kDa 2 ',5 '-oligoadenylate synthetase catalyzing preferentially the synthesis of dimeric pppA2 ' p5 ' A molecules is composed of three homologous domains, J BIOL CHEM, 274(3), 1999, pp. 1557-1565
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