نتائج البحث - "Fiege, B."

1

Academic Journal

The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A

المؤلفون: Vijayakrishnan, J, Henrion, M, Moorman, AV, Fiege, B, Kumar, R, da Silva Filho, MI, Holroyd, A, Koehler, R, Thomsen, H, Irving, JA, Allan, JM, Lightfoot, T, Roman, E, Kinsey, SE, Sheridan, E, Thompson, PD, Hoffmann, P, Nothen, MM, Muhleisen, TW, Eisele, L, Bartram, CR, Schrappe, M, Greaves, M, Hemminki, K, Harrison, CJ, Stanulla, M, Houlston, RS

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/98107/1/The%209p21.3%20risk%20of%20childhood%20acute%20lymphoblastic%20leukaemia%20is%20explained%20by%20a%20rare%20high-impact%20variant%20in%20CDKN2A.pdf; Vijayakrishnan, J, Henrion, M, Moorman, AV et al. (24 more authors) (2015) The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A. Scientific Reports, 5. 15065. ISSN 2045-2322

الاتاحة: https://eprints.whiterose.ac.uk/98107/
https://eprints.whiterose.ac.uk/98107/1/The%209p21.3%20risk%20of%20childhood%20acute%20lymphoblastic%20leukaemia%20is%20explained%20by%20a%20rare%20high-impact%20variant%20in%20CDKN2A.pdf
https://doi.org/10.1038/srep15065

View record in BASE

2

Academic Journal

Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

المؤلفون: Gartner, KH, Blau, N, Baykal, T, Kierat, L, Thony, B, Zurfluh, MR, Giovannini, M, Fiori, L, Fiege, B, Gokdemir, Y

المساهمون: 176844

مصطلحات موضوعية: Tıbbi Ekoloji ve Hidroklimatoloji, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Tıbbi Genetik, Temel Bilimler, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Klinik Tıp (MED), GENETİK VE HAYAT, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, Tıp

Relation: MOLECULAR GENETICS AND METABOLISM; Zurfluh M., Giovannini M., Fiori L., Fiege B., Gokdemir Y., Baykal T., Kierat L., Gartner K., Thony B., Blau N., "Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper", MOLECULAR GENETICS AND METABOLISM, cilt.86, 2005; vv_1032021; av_bf0120a2-82df-4e71-855b-673fa5a4fd2d; http://hdl.handle.net/20.500.12627/126837; https://doi.org/10.1016/j.ymgme.2005.09.011; 86

الاتاحة: https://hdl.handle.net/20.500.12627/126837
https://doi.org/10.1016/j.ymgme.2005.09.011

View record in BASE

3

Academic Journal

Pharmacokinetic of orally administered BH4 in patients with phenylalanine hydroxylase deficiency

المؤلفون: Thoeny, B., Blau, N., Demirkol, M., Gaertner, K., Giovannini, M., Zurflueh, M., Fiori, L., Fiege, B., Ozer, I., Gokdemir, Y.

المساهمون: 179507

مصطلحات موضوعية: Tıbbi Genetik, Tıbbi Ekoloji ve Hidroklimatoloji, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, GENETİK VE HAYAT, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Klinik Tıp (MED)

Relation: JOURNAL OF INHERITED METABOLIC DISEASE; Zurflueh M., Fiori L., Fiege B., Ozer I., Gokdemir Y., Demirkol M., Gaertner K., Thoeny B., Giovannini M., Blau N., "Pharmacokinetic of orally administered BH4 in patients with phenylalanine hydroxylase deficiency", JOURNAL OF INHERITED METABOLIC DISEASE, cilt.29, ss.91, 2006; vv_1032021; av_67c6aaa8-dfd4-4624-ac91-a715b485c008; http://hdl.handle.net/20.500.12627/72012; 29; 91

الاتاحة: https://hdl.handle.net/20.500.12627/72012

View record in BASE

4

Academic Journal

Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency

المؤلفون: Zurflüh, M R, Fiori, L, Fiege, B, Ozen, I, Demirkol, M, Gärtner, K H, Thöny, B, Giovannini, M, Blau, N

المصدر: Zurflüh, M R; Fiori, L; Fiege, B; Ozen, I; Demirkol, M; Gärtner, K H; Thöny, B; Giovannini, M; Blau, N (2006). Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency. Journal of Inherited Metabolic Disease, 29(6):725-731.

مصطلحات موضوعية: 610 Medicine & health

Time: 142-005

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/156154/1/ZORA_NL_156154.pdf; info:pmid/17091341; urn:issn:0141-8955

الاتاحة: https://www.zora.uzh.ch/id/eprint/156154/
https://www.zora.uzh.ch/id/eprint/156154/1/ZORA_NL_156154.pdf

View record in BASE

5

Report

Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.

المؤلفون: Kuru, NB, Blau, N, Thony, B, Kierat, L, Demirkol, M, Baykal, T, Zurfluh, M, Fiori, L, Fiege, B, Giovannini, M

المساهمون: 130558

مصطلحات موضوعية: Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Tıbbi Genetik, Tıbbi Ekoloji ve Hidroklimatoloji, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, Klinik Tıp (MED), GENETİK VE HAYAT, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp

Relation: Zurfluh M., Fiori L., Fiege B., Giovannini M., Kuru N., Baykal T., Demirkol M., Kierat L., Thony B., Blau N., "Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.", Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD 2005), California, Amerika Birleşik Devletleri, 6 - 09 Mart 2005, cilt.84, ss.214-215; vv_1032021; av_cdb7ae12-d756-46d8-9872-df8c052c9d45; http://hdl.handle.net/20.500.12627/136120; 84

الاتاحة: https://hdl.handle.net/20.500.12627/136120

View record in BASE

6

Conference

Extended tetrahydrobiopterin (BH4) loading test in the diagnosis of BH4_responsive PKU

المؤلفون: Fiege, B., Fiori, L., Bonafe, L., Ballhausen, D., Baumgartner, M., Thoeny, B., Giovannini, M., Blau, N.

المصدر: SSIEM 2005, 42st Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, vol. 28, pp. 31

Relation: info:eu-repo/semantics/altIdentifier/isbn/0141-8955; https://serval.unil.ch/notice/serval:BIB_64D25F9C334D

الاتاحة: https://serval.unil.ch/notice/serval:BIB_64D25F9C334D

View record in BASE

7

Academic Journal

Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype

المؤلفون: Migliorini G, Fiege B, Hosking FJ, Ma Y, Kumar R, Sherborne AL, da Silva MI, Vijayakrishnan J, Koehler R, Thomsen H, Irving JA, Allan JM, Lightfoot T, Roman E, Kinsey SE, Sheridan E, Thompson P, Hoffmann P, Nothen MM, Muhleisen TW, Eisele L, Zimmermann M, Bartram CR, Schrappe M, Greaves M, Stanulla M, Hemminki K, Houlston RS

المصدر: Blood, 01-01-2013

Relation: https://eprints.ncl.ac.uk/203138

الاتاحة: https://eprints.ncl.ac.uk/203138

View record in BASE

8

Academic Journal

Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype

Relation: http://epubs.surrey.ac.uk/838021/; Migliorini, G, Fiege, B, Hosking, FJ, Ma, Y, Kumar, R, Sherborne, AL, da Silva Filho, MI, Vijayakrishnan, J, Koehler, R, Thomsen, H, Irving, JA, Allan, JM, Lightfoot, T, Roman, E, Kinsey, SE, Sheridan, E, Thompson, P, Hoffmann, P, Noethen, MM, Muehleisen, TW, Eisele, L, Zimmermann, M, Bartram, CR, Schrappe, M, Greaves, M, Stanulla, M, Hemminki, K and Houlston, RS (2013) Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype BLOOD, 122 (19). pp. 3298-3307.

الاتاحة: https://doi.org/10.1182/blood-2013-03-491316

View record in BASE

9

Academic Journal

Molecular Details of the Recognition of Blood Group Antigens by a Human Norovirus as Determined by STD NMR Spectroscopy

المؤلفون: Fiege, B., Rademacher, C., Cartmell, J., Kitov, P., Parra, F., Peters, T.

المصدر: Angewandte Chemie International Edition

Relation: http://hdl.handle.net/21.11116/0000-0001-EDDF-A

الاتاحة: http://hdl.handle.net/21.11116/0000-0001-EDDF-A

View record in BASE

10

Academic Journal

Targeting Norovirus Infection-Multivalent Entry Inhibitor Design Based on NMR Experiments

المؤلفون: Rademacher, C., Guiard, J., Kitov, P., Fiege, B., Dalton, K., Parra, F., Bundle, D., Peters, T.

المصدر: Chemistry – A European Journal

Relation: http://hdl.handle.net/21.11116/0000-0001-EF03-F

الاتاحة: http://hdl.handle.net/21.11116/0000-0001-EF03-F

View record in BASE

11

Academic Journal

Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency

المؤلفون: Giovannini, M., Fiori, L., Fiege, B., Ozen, I., Zurfluh, M. R., Demirkol, M., Gartner, K. H., Thony, B., Blau, N.

المساهمون: 180613

مصطلحات موضوعية: Tıbbi Genetik, Tıbbi Ekoloji ve Hidroklimatoloji, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Temel Bilimler, GENETİK VE HAYAT, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Klinik Tıp (MED)

Relation: JOURNAL OF INHERITED METABOLIC DISEASE; Zurfluh M. R. , Fiori L., Fiege B., Ozen I., Demirkol M., Gartner K. H. , Thony B., Giovannini M., Blau N., "Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency", JOURNAL OF INHERITED METABOLIC DISEASE, cilt.29, ss.725-731, 2006; vv_1032021; av_b65f046c-dddd-4d5e-8cca-79986d855e11; http://hdl.handle.net/20.500.12627/121391; https://doi.org/10.1007/s10545-006-0425-6; 29; 725; 731

الاتاحة: https://hdl.handle.net/20.500.12627/121391
https://doi.org/10.1007/s10545-006-0425-6

View record in BASE

12

Academic Journal

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study

المؤلفون: Fiege, B., Bonafe, L., Ballhausen, D., Baumgartner, M., Thony, B., Meili, D., Fiori, L., Giovannini, M., Blau, N.

المصدر: Molecular Genetics and Metabolism, vol. 86 Suppl 1, pp. S91-5

مصطلحات موضوعية: Biopterin/administration & dosage/*analogs & derivatives/diagnostic use Humans Male Mutation Phenylalanine/*blood Phenylalanine Hydroxylase/deficiency/genetics Phenylketonurias/blood/*diagnosis/drug therapy Sensitivity and Specificity

Relation: info:eu-repo/semantics/altIdentifier/pmid/16290003; info:eu-repo/semantics/altIdentifier/pissn/1096-7192; https://serval.unil.ch/notice/serval:BIB_90F5B038493B

الاتاحة: https://serval.unil.ch/notice/serval:BIB_90F5B038493B
https://doi.org/10.1016/j.ymgme.2005.09.014

View record in BASE