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323 results
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Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.
Melin M, Entesarian M, Carlsson G, Garwicz D, Klein C, Fadeel B, Nordenskjöld M, Palmblad J, Henter JI, Dahl N. Melin M, et al. Among authors: nordenskjold m. Biochem Biophys Res Commun. 2007 Feb 16;353(3):571-5. doi: 10.1016/j.bbrc.2006.12.086. Epub 2006 Dec 20. Biochem Biophys Res Commun. 2007. PMID: 17188649 Free PMC article.
Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome.
Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjöld M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Stewart DR, et al. Among authors: nordenskjold m. Am J Med Genet A. 2004 Aug 1;128A(4):340-51. doi: 10.1002/ajmg.a.30136. Am J Med Genet A. 2004. PMID: 15264279
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.
Rahman N, Dunstan M, Teare MD, Hanks S, Douglas J, Coleman K, Bottomly WE, Campbell ME, Berglund B, Nordenskjöld M, Forssell B, Burrows N, Lunt P, Young I, Williams N, Bignell GR, Futreal PA, Pope FM. Rahman N, et al. Among authors: nordenskjold m. Am J Hum Genet. 2003 Jul;73(1):198-204. doi: 10.1086/376416. Epub 2003 May 29. Am J Hum Genet. 2003. PMID: 12776252 Free PMC article.
Inactivation of BHD in sporadic renal tumors.
Khoo SK, Kahnoski K, Sugimura J, Petillo D, Chen J, Shockley K, Ludlow J, Knapp R, Giraud S, Richard S, Nordenskjöld M, Teh BT. Khoo SK, et al. Among authors: nordenskjold m. Cancer Res. 2003 Aug 1;63(15):4583-7. Cancer Res. 2003. PMID: 12907635
Disruption of tubular Flcn expression as a mouse model for renal tumor induction.
Chen J, Huang D, Rubera I, Futami K, Wang P, Zickert P, Khoo SK, Dykema K, Zhao P, Petillo D, Cao B, Zhang Z, Si S, Schoen SR, Yang XJ, Zhou M, Xiao GQ, Wu G, Nordenskjöld M, Tauc M, Williams BO, Furge KA, Teh BT. Chen J, et al. Among authors: nordenskjold m. Kidney Int. 2015 Nov;88(5):1057-69. doi: 10.1038/ki.2015.177. Epub 2015 Jun 17. Kidney Int. 2015. PMID: 26083655 Free article.
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjöld M, Latif F, Hurst LD, Maher ER. Nahorski MS, et al. Among authors: nordenskjold m. Hum Mutat. 2011 Aug;32(8):921-9. doi: 10.1002/humu.21519. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21538689
Birt-Hogg-Dubé syndrome: diagnosis and management.
Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER; European BHD Consortium. Menko FH, et al. Among authors: nordenskjold m. Lancet Oncol. 2009 Dec;10(12):1199-206. doi: 10.1016/S1470-2045(09)70188-3. Lancet Oncol. 2009. PMID: 19959076 Review.
Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression.
Klomp JA, Petillo D, Niemi NM, Dykema KJ, Chen J, Yang XJ, Sääf A, Zickert P, Aly M, Bergerheim U, Nordenskjöld M, Gad S, Giraud S, Denoux Y, Yonneau L, Méjean A, Vasiliu V, Richard S, MacKeigan JP, Teh BT, Furge KA. Klomp JA, et al. Among authors: nordenskjold m. BMC Med Genomics. 2010 Dec 16;3:59. doi: 10.1186/1755-8794-3-59. BMC Med Genomics. 2010. PMID: 21162720 Free PMC article.
Clinical and genetic studies of Birt-Hogg-Dubé syndrome.
Khoo SK, Giraud S, Kahnoski K, Chen J, Motorna O, Nickolov R, Binet O, Lambert D, Friedel J, Lévy R, Ferlicot S, Wolkenstein P, Hammel P, Bergerheim U, Hedblad MA, Bradley M, Teh BT, Nordenskjöld M, Richard S. Khoo SK, et al. Among authors: nordenskjold m. J Med Genet. 2002 Dec;39(12):906-12. doi: 10.1136/jmg.39.12.906. J Med Genet. 2002. PMID: 12471204 Free PMC article.
323 results