Nürnberg P - Search Results

1

Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.

Koko M, Elseed MA, Mohammed IN, Hamed AA, Abd Allah ASI, Yahia A, Siddig RA, Altmüller J, Toliat MR, Elmahdi EO, Amin M, Ahmed EA, Eltazi IZM, Elmugadam FA, Abdelgadir WA, Eltaraifee E, Ibrahim MOM, Ali NMH, Malik HM, Babai AM, Bakhit YH, Nürnberg P, Ibrahim ME, Salih MA, Schubert J, Elsayed LEO, Lerche H. Koko M, et al. Among authors: nurnberg p. Eur J Hum Genet. 2024 Feb 5. doi: 10.1038/s41431-024-01541-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38316952

2

Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.

Sander T, Toliat MR, Heils A, Becker C, Nürnberg P. Sander T, et al. Among authors: nurnberg p. Epilepsy Res. 2002 Apr;49(2):173-7. doi: 10.1016/s0920-1211(02)00025-6. Epilepsy Res. 2002. PMID: 12049805

3

New universal primers facilitate Pyrosequencing.

Aydin A, Toliat MR, Bähring S, Becker C, Nürnberg P. Aydin A, et al. Among authors: nurnberg p. Electrophoresis. 2006 Feb;27(2):394-7. doi: 10.1002/elps.200500467. Electrophoresis. 2006. PMID: 16331584

4

Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populations.

Bauerfeind A, Knoblauch H, Costanza MC, Luganskaja T, Toliat MR, Nürnberg P, Luft FC, Reich JG, Morabia A. Bauerfeind A, et al. Among authors: nurnberg p. Hum Hered. 2006;61(3):123-31. doi: 10.1159/000093773. Epub 2006 Jun 12. Hum Hered. 2006. PMID: 16770077

5

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F. Budde BS, et al. Among authors: nurnberg p, nurnberg g. Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204. Nat Genet. 2008. PMID: 18711368

6

New genetic evidence for involvement of the dopamine system in migraine with aura.

Todt U, Netzer C, Toliat M, Heinze A, Goebel I, Nürnberg P, Göbel H, Freudenberg J, Kubisch C. Todt U, et al. Among authors: nurnberg p. Hum Genet. 2009 Apr;125(3):265-79. doi: 10.1007/s00439-009-0623-z. Epub 2009 Jan 17. Hum Genet. 2009. PMID: 19152006

7

The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample.

Karsak M, Malkin I, Toliat MR, Kubisch C, Nürnberg P, Zimmer A, Livshits G. Karsak M, et al. Among authors: nurnberg p. Hum Genet. 2009 Nov;126(5):629-36. doi: 10.1007/s00439-009-0708-8. Epub 2009 Jun 30. Hum Genet. 2009. PMID: 19565271

8

Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population.

Ermakov S, Toliat MR, Cohen Z, Malkin I, Altmüller J, Livshits G, Nürnberg P. Ermakov S, et al. Among authors: nurnberg p. Bone. 2010 May;46(5):1244-50. doi: 10.1016/j.bone.2009.11.018. Epub 2009 Nov 27. Bone. 2010. PMID: 19931660

9

Genetic determinants of circulating levels of tumor necrosis factor receptor II and their association with TNF-RII gene polymorphisms.

Vistoropsky Y, Ermakov S, Toliat MR, Trofimov S, Altmüller J, Malkin I, Nürnberg P, Livshits G. Vistoropsky Y, et al. Among authors: nurnberg p. Cytokine. 2010 Jul;51(1):28-34. doi: 10.1016/j.cyto.2010.04.013. Epub 2010 May 21. Cytokine. 2010. PMID: 20488723

10

Transforming growth factor-β1 variant Leu10Pro is associated with both lack of microfilariae and differential microfilarial loads in the blood of persons infected with lymphatic filariasis.

Debrah AY, Batsa L, Albers A, Mand S, Toliat MR, Nürnberg P, Adjei O, Hoerauf A, Pfarr K. Debrah AY, et al. Among authors: nurnberg p. Hum Immunol. 2011 Nov;72(11):1143-8. doi: 10.1016/j.humimm.2011.07.305. Epub 2011 Jul 31. Hum Immunol. 2011. PMID: 21843572

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