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Results: 1-7 |
Results: 7
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
Authors: Tartaglia, M Mehler, EL Goldberg, R Zampino, G Brunner, HG Kremer, H van der Burgt, I Crosby, AH Ion, A Jeffery, S Kalidas, K Patton, MA Kucherlapati, RS Gelb, BD
Citation: M. Tartaglia et al., Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome, NAT GENET, 29(4), 2001, pp. 465-468
Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan Syndrome (vol 29, pg 465, 2001)
Authors: Tartaglia, M Mehler, EL Goldberg, R Zampino, G Brunner, HG Kremer, H van der Burgt, I Crosby, AH Ion, A Jeffery, S Kalidas, K Patton, MA Kucherlapati, RS Gelb, B
Citation: M. Tartaglia et al., Mutations in the protein tyrosine kinase gene, PTPN11, cause Noonan Syndrome (vol 29, pg 465, 2001), NAT GENET, 29(4), 2001, pp. 491-491
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci
Authors: Patel, H Hart, PE Warner, T Allen, I Phillimore, HE Silver, JR Wood, NW Jeffery, S Patton, MA Crosby, AH
Citation: H. Patel et al., Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci, AM J MED G, 102(1), 2001, pp. 68-72
A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members
Authors: Mead, SH Proukakis, C Wood, N Crosby, AH Plant, GT Warner, TT
Citation: Sh. Mead et al., A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members, J NE NE PSY, 71(6), 2001, pp. 788-791
Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda
Authors: Patel, H Nardelli, M Fenn, T Houlston, R Coonar, A Patton, MA Crosby, AH
Citation: H. Patel et al., Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda, BR J DERM, 144(4), 2001, pp. 731-734
The silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype
Authors: Patel, H Hart, PE Warner, TT Houlston, RS Patton, MA Jeffery, S Crosby, AH
Citation: H. Patel et al., The silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype, AM J HU GEN, 69(1), 2001, pp. 209-215
Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6
Authors: Ion, A Crosby, AH Kremer, H Kenmochi, N Van Reen, M Fenske, C Van der Burgt, I Brunner, HG Montgomery, K Kucherlapati, RS Patton, MA Page, DC Mariman, E Jeffery, S
Citation: A. Ion et al., Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6, J MED GENET, 37(11), 2000, pp. 884-886
Risultati: 1-7 |