Blau N - Search Results

1

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

Wettstein S, Underhaug J, Perez B, Marsden BD, Yue WW, Martinez A, Blau N. Wettstein S, et al. Among authors: blau n. Eur J Hum Genet. 2015 Mar;23(3):302-9. doi: 10.1038/ejhg.2014.114. Epub 2014 Jun 18. Eur J Hum Genet. 2015. PMID: 24939588 Free PMC article.

2

The Genetic Landscape and Epidemiology of Phenylketonuria.

Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: blau n. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.

3

Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.

Heintz C, Troxler H, Martinez A, Thöny B, Blau N. Heintz C, et al. Among authors: blau n. Mol Genet Metab. 2012 Apr;105(4):559-65. doi: 10.1016/j.ymgme.2011.12.025. Epub 2012 Jan 12. Mol Genet Metab. 2012. PMID: 22300847 Free article.

4

DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias.

Blau N, Martinez A, Hoffmann GF, Thöny B. Blau N, et al. Mol Genet Metab. 2018 Jan;123(1):1-5. doi: 10.1016/j.ymgme.2017.11.005. Epub 2017 Nov 20. Mol Genet Metab. 2018. PMID: 29174366 Review.

5

Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.

Jung-Kc K, Himmelreich N, Prestegård KS, Shi TS, Scherer T, Ying M, Jorge-Finnigan A, Thöny B, Blau N, Martinez A. Jung-Kc K, et al. Among authors: blau n. Hum Mutat. 2019 Apr;40(4):483-494. doi: 10.1002/humu.23712. Epub 2019 Feb 6. Hum Mutat. 2019. PMID: 30667134

6

Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency.

Muniz JRC, Szeto NW, Frise R, Lee WH, Wang XS, Thöny B, Himmelreich N, Blau N, Hsiao KJ, Liu TT, Gileadi O, Oppermann U, Von Delft F, Yue WW, Tang NL. Muniz JRC, et al. Among authors: blau n. Pathology. 2019 Apr;51(3):274-280. doi: 10.1016/j.pathol.2018.11.011. Epub 2019 Mar 8. Pathology. 2019. PMID: 30853107

7

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M. Anikster Y, et al. Among authors: blau n. Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132689 Free PMC article.

8

Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice.

Scavelli R, Ding Z, Blau N, Haavik J, Martínez A, Thöny B. Scavelli R, et al. Among authors: blau n. Mol Genet Metab. 2005 Dec;86 Suppl 1:S153-5. doi: 10.1016/j.ymgme.2005.09.015. Epub 2005 Nov 11. Mol Genet Metab. 2005. PMID: 16290004

9

Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.

Heintz C, Cotton RG, Blau N. Heintz C, et al. Among authors: blau n. Hum Mutat. 2013 Jul;34(7):927-36. doi: 10.1002/humu.22320. Epub 2013 May 1. Hum Mutat. 2013. PMID: 23559577 Review.

10

Genetics of Phenylketonuria: Then and Now.

Blau N. Blau N. Hum Mutat. 2016 Jun;37(6):508-15. doi: 10.1002/humu.22980. Epub 2016 Mar 18. Hum Mutat. 2016. PMID: 26919687 Review.

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