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Results: 1-10 |
Results: 10
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism
Authors: Ueki, Y Tiziani, V Santanna, C Fukai, N Maulik, C Garfinkle, J Ninomiya, C doAmaral, C Peters, H Habal, M Rhee-Morris, L Doss, JB Kreiberg, S Olsen, BR Reichenberger, E
Citation: Y. Ueki et al., Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism, NAT GENET, 28(2), 2001, pp. 125-126
A double-deletion mutation in the Pitx3 gene causes arrested lens development in aphakia mice
Authors: Rieger, DK Reichenberger, E McLean, W Sidow, A Olsen, BR
Citation: Dk. Rieger et al., A double-deletion mutation in the Pitx3 gene causes arrested lens development in aphakia mice, GENOMICS, 72(1), 2001, pp. 61-72
Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome
Authors: Marneros, AG Mehenni, H Reichenberger, E Antonarakis, SE Krieg, T Olsen, BR
Citation: Ag. Marneros et al., Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome, CYTOG C GEN, 92(3-4), 2001, pp. 213-216
Clinical genetics of familial keloids
Authors: Marneros, AG Norris, JEC Olsen, BR Reichenberger, E
Citation: Ag. Marneros et al., Clinical genetics of familial keloids, ARCH DERMAT, 137(11), 2001, pp. 1429-1434
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
Authors: Reichenberger, E Tiziani, V Watanabe, S Park, L Ueki, Y Santanna, C Baur, ST Shiang, R Grange, DK Beighton, P Gardner, J Hamersma, H Sellars, S Ramesar, R Lidral, AC Sommer, A do Amaral, CMR Gorlin, RJ Mulliken, JB Olsen, BR
Citation: E. Reichenberger et al., Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK, AM J HU GEN, 68(6), 2001, pp. 1321-1326
Craniosynostosis in cherubism
Authors: Stiller, M Urban, M Golder, W Tiziani, V Reichenberger, E Frege, J Opitz, C Peters, H
Citation: M. Stiller et al., Craniosynostosis in cherubism, AM J MED G, 95(4), 2000, pp. 325-331
Collagen XII mutation disrupts matrix structure of periodontal ligament and skin
Authors: Reichenberger, E Baur, S Sukotjo, C Olsen, BR Karimbux, NY Nishimura, I
Citation: E. Reichenberger et al., Collagen XII mutation disrupts matrix structure of periodontal ligament and skin, J DENT RES, 79(12), 2000, pp. 1962-1968
Structural variation of type XII collagen at its carboxyl-terminal NC1 domain generated by tissue-specific alternative splicing
Authors: Kania, AM Reichenberger, E Baur, ST Karimbux, NY Taylor, RW Olsen, BR Nishimura, I
Citation: Am. Kania et al., Structural variation of type XII collagen at its carboxyl-terminal NC1 domain generated by tissue-specific alternative splicing, J BIOL CHEM, 274(31), 1999, pp. 22053-22059
The gene for cherubism maps to chromosome 4p16
Authors: Tiziani, V Reichenberger, E Buzzo, CL Niazi, S Fukai, N Stiller, M Peters, H Salzano, FM do Amaral, CMR Olsen, BR
Citation: V. Tiziani et al., The gene for cherubism maps to chromosome 4p16, AM J HU GEN, 65(1), 1999, pp. 158-166
Bibliography of publications on the comedia (1996-1997)
Authors: Szmuk, SE Reed, CA Gutierrez Arranz, L Herranz Calle, E Vega Garcia-Luengos, G Orobitg, C Garnier, E Antonucci, F Arata, S Reichenberger, E Reynolds, JJ Mackenzie, AL Ruano de la Haza, JM de la Granja, A
Citation: Se. Szmuk et al., Bibliography of publications on the comedia (1996-1997), B COMEDIANT, 50(1), 1998, pp. 123-234
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