Results: 1-25 | 26-30
Results: 1-25/30
Direct measurement of interatomic force gradients using an ultra-low-amplitude atomic force microscope
Authors: Hoffmann, PM Oral, A Grimble, RA Ozer, HO Jeffery, S Pethica, JB
Citation: Pm. Hoffmann et al., Direct measurement of interatomic force gradients using an ultra-low-amplitude atomic force microscope, P ROY SOC A, 457(2009), 2001, pp. 1161-1174
Amplification of a 13.5-kb region of the PKD1 gene containing the 2.5-kb polypyrimidine tract in intron 21 facilitates mutation detection in this gene
Authors: Afzal, AR Jeffery, S
Citation: Ar. Afzal et S. Jeffery, Amplification of a 13.5-kb region of the PKD1 gene containing the 2.5-kb polypyrimidine tract in intron 21 facilitates mutation detection in this gene, GENET TEST, 5(1), 2001, pp. 57-59
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
The innovation conversation
Authors: Webber, AM Beegle, R Brown, T Sawi, B Rueff, R Yates, L Penzias, A Moore, P McCue, M LaBarre, P Conley, C Jeffery, S
Citation: Am. Webber et al., The innovation conversation, RES TECH M, 44(5), 2001, pp. 9-11
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene
Authors: Bell, R Brice, G Child, AH Murday, VA Mansour, S Sandy, CJ Collin, JRO Brady, AF Callen, DF Burnand, K Mortimer, P Jeffery, S
Citation: R. Bell et al., Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene, HUM GENET, 108(6), 2001, pp. 546-551
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
Decreased wild-type full-length Et-A and -B receptors in neuroblastoma andEwing sarcoma cells
Authors: Berry, PA Zhang, YF Carter, ND Jeffery, S Burchill, SA
Citation: Pa. Berry et al., Decreased wild-type full-length Et-A and -B receptors in neuroblastoma andEwing sarcoma cells, MED PED ONC, 36(1), 2001, pp. 142-146
Mutation detection in long QT syndrome: a comprehensive set of primers andPCR conditions
Authors: Syrris, P Murray, A Carter, ND McKenna, WM Jeffery, S
Citation: P. Syrris et al., Mutation detection in long QT syndrome: a comprehensive set of primers andPCR conditions, J MED GENET, 38(10), 2001, pp. 705-710
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
Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy
Authors: Mahon, NG Coonar, AS Jeffery, S Coccolo, F Akiyu, J Zal, B Houlston, R Levin, GE Baboonian, C McKenna, WJ
Citation: Ng. Mahon et al., Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy, HEART, 84(5), 2000, pp. 541-547
Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion
Authors: Afzal, AR Florencio, RN Taylor, R Patton, MA Saggar-Malik, A Jeffery, S
Citation: Ar. Afzal et al., Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion, GENET TEST, 4(4), 2000, pp. 365-370
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
Authors: Afzal, AR Rajab, A Fenske, CD Oldridge, M Elanko, N Ternes-Pereira, E Tuysuz, B Murday, VA Patton, MA Wilkie, AOM Jeffery, S
Citation: Ar. Afzal et al., Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2, NAT GENET, 25(4), 2000, pp. 419-422
QT interval in twins
Authors: Carter, N Snieder, H Jeffery, S Saumarez, R Varma, C Antoniades, L Spector, TD
Citation: N. Carter et al., QT interval in twins, J HUM HYPER, 14(6), 2000, pp. 389-390
Angiotensin-converting enzyme gene I/D polymorphism and carotid artery disease in renovascular hypertension
Authors: Losito, A Selvi, A Jeffery, S Afzal, AR Parente, B Cao, PG
Citation: A. Losito et al., Angiotensin-converting enzyme gene I/D polymorphism and carotid artery disease in renovascular hypertension, AM J HYPERT, 13(2), 2000, pp. 128-133
Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22
Authors: Afzal, AR Rajab, A Fenske, C Crosby, A Lahiri, N Ternes-Pereira, E Murday, VA Houlston, R Patton, MA Jeffery, S
Citation: Ar. Afzal et al., Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22, HUM GENET, 106(3), 2000, pp. 351-354
ACE gene polymorphism and survival in atherosclerotic renovascular disease
Authors: Losito, A Parente, B Cao, PG Jeffery, S Afzal, AR
Citation: A. Losito et al., ACE gene polymorphism and survival in atherosclerotic renovascular disease, AM J KIDNEY, 35(2), 2000, pp. 211-215
Quantitative electrostatic force measurement in AFM
Authors: Jeffery, S Oral, A Pethica, JB
Citation: S. Jeffery et al., Quantitative electrostatic force measurement in AFM, APPL SURF S, 157(4), 2000, pp. 280-284
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
Authors: McKoy, G Protonotarios, N Crosby, A Tsatsopoulou, A Anastasakis, A Coonar, A Norman, M Baboonian, C Jeffery, S McKenna, WJ
Citation: G. Mckoy et al., Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease), LANCET, 355(9221), 2000, pp. 2119-2124
Location of mutations within the PKD2 gene influences clinical outcome
Authors: Hateboer, N Veldhuisen, B Peters, D Breuning, MH San-Millan, JL Bogdanova, N Coto, E von Dijk, MA Afzal, AR Jeffery, S Saggar-Malik, AK Torra, R Dimitrakov, D Martinez, I de Castro, SS Krawczak, M Ravine, D
Citation: N. Hateboer et al., Location of mutations within the PKD2 gene influences clinical outcome, KIDNEY INT, 57(4), 2000, pp. 1444-1451
Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb
Authors: Bell, R Brice, G Child, AH Murday, VA Mansour, S Sandy, CJ Collin, JRO Mortimer, P Callen, DF Burnand, K Jeffery, S
Citation: R. Bell et al., Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb, J MED GENET, 37(9), 2000, pp. 725-726
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
Possible different involvement of interleukin-1 receptor antagonist gene polymorphism in coronary single vessel disease and myocardial infarction - Response
Authors: Crossman, DC Francis, SE Camp, NJ Dewberry, RM Gunn, J Cumberland, DC Duff, GW Syrris, P Carter, ND Jeffery, S Kaski, JC
Citation: Dc. Crossman et al., Possible different involvement of interleukin-1 receptor antagonist gene polymorphism in coronary single vessel disease and myocardial infarction - Response, CIRCULATION, 101(18), 2000, pp. E193-E193
Novel mutations in the 3 ' region of the polycystic kidney disease 1 (PKD1) gene
Authors: Afzal, AR Hand, M Ternes-Pereira, E Saggar-Malik, A Taylor, R Jeffery, S
Citation: Ar. Afzal et al., Novel mutations in the 3 ' region of the polycystic kidney disease 1 (PKD1) gene, HUM GENET, 105(6), 1999, pp. 648-653
Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12
Authors: Brady, AF Elsawi, MM Jamieson, CR Marks, K Jeffery, S Patton, MA Murtaza, L Savage, MO
Citation: Af. Brady et al., Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12, J MED GENET, 36(12), 1999, pp. 939-941
Risultati: 1-25 | 26-30