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Results: 1-10 |
Results: 10
Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset
Authors: Valente, EM Bentivoglio, AR Cassetta, E Dixon, PH Davis, MB Ferraris, A Ialongo, T Frontali, M Wood, NW Albanese, A
Citation: Em. Valente et al., Identification of a novel primary torsion dystonia loons (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset, NEUROL SCI, 22(1), 2001, pp. 95-96
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females
Authors: Sheen, VL Dixon, PH Fox, JW Hong, SE Kinton, L Sisodiya, SM Duncan, JS Dubeau, F Scheffer, IE Schachter, SC Wilner, A Henchy, R Crino, P Kamuro, K DiMario, F Berg, M Kuzniecky, R Cole, AJ Bromfield, E Biber, M Schomer, D Wheless, J Silver, K Mochida, GH Berkovic, SF Andermann, F Andermann, E Dobyns, WB Wood, NW Walsh, CA
Citation: Vl. Sheen et al., Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females, HUM MOL GEN, 10(17), 2001, pp. 1775-1783
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial cervical or upper limb onset
Authors: Valente, EM Bentivoglio, AR Cassetta, E Dixon, PH Davis, MB Ferraris, A Ialongo, T Frontali, M Wood, NW Albanese, A
Citation: Em. Valente et al., DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial cervical or upper limb onset, ANN NEUROL, 49(3), 2001, pp. 362-366
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36
Authors: Valente, EM Bentivoglio, AR Dixon, PH Ferraris, A Ialongo, T Frontali, M Albanese, A Wood, NW
Citation: Em. Valente et al., Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36, AM J HU GEN, 68(4), 2001, pp. 895-900
Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking
Authors: Dixon, PH Weerasekera, N Linton, KJ Donaldson, O Chambers, J Egginton, E Weaver, J Nelson-Piercy, C de Swiet, M Warnes, G Elias, E Higgins, CF Johnston, DG McCarthy, MI Williamson, C
Citation: Ph. Dixon et al., Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking, HUM MOL GEN, 9(8), 2000, pp. 1209-1217
A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred
Authors: Mumm, S Christie, PT Finnegan, P Jones, J Dixon, PH Pannett, AAJ Harding, B Gottesman, GS Thakker, RV Whyte, MP
Citation: S. Mumm et al., A five-base pair deletion in the sedlin gene causes spondyloepiphyseal dysplasia tarda in a six-generation Arkansas kindred, J CLIN END, 85(9), 2000, pp. 3343-3347
A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16
Authors: Valente, EM Spacey, SD Wali, GM Bhatia, KP Dixon, PH Wood, NW Davis, MB
Citation: Em. Valente et al., A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16, BRAIN, 123, 2000, pp. 2040-2045
Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31 (vol 14, pg 230, 1999)
Authors: Williamson, C Cavaco, BM Jauch, A Dixon, PH Forbes, S Harding, B Holtgreve-Grez, H Schoell, B Pereira, MC Font, AP Loureiro, MM Sobrinho, LG Santos, MA Thakker, RV
Citation: C. Williamson et al., Mapping the gene causing hereditary primary hyperparathyroidism in a Portuguese kindred to chromosome 1q22-q31 (vol 14, pg 230, 1999), J BONE MIN, 14(8), 1999, pp. 1472-1472
Autosomal dominant cerebellar ataxia type III: Linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3
Authors: Worth, PF Giunti, P Gardner-Thorpe, C Dixon, PH Davis, MB Wood, NW
Citation: Pf. Worth et al., Autosomal dominant cerebellar ataxia type III: Linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3, AM J HU GEN, 65(2), 1999, pp. 420-426
Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13
Authors: Lloyd, SE Pannett, AAJ Dixon, PH Whyte, MP Thakker, RV
Citation: Se. Lloyd et al., Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13, AM J HU GEN, 64(1), 1999, pp. 189-195
Risultati: 1-10 |