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Results: 1 to 20 of 113

Similar articles for PubMed (Select 23942198)

1.

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.

Trujillano D, Perez B, González J, Tornador C, Navarrete R, Escaramis G, Ossowski S, Armengol L, Cornejo V, Desviat LR, Ugarte M, Estivill X.

Eur J Hum Genet. 2014 Apr;22(4):528-34. doi: 10.1038/ejhg.2013.175. Epub 2013 Aug 14.

2.

Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

Gu Y, Lu K, Yang G, Cen Z, Yu L, Lin L, Hao J, Yang Z, Peng J, Cui S, Huang J.

PLoS One. 2014 Apr 4;9(4):e94100. doi: 10.1371/journal.pone.0094100. eCollection 2014.

3.

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.

Trujillano D, Ramos MD, González J, Tornador C, Sotillo F, Escaramis G, Ossowski S, Armengol L, Casals T, Estivill X.

J Med Genet. 2013 Jul;50(7):455-62. doi: 10.1136/jmedgenet-2013-101602. Epub 2013 May 17.

PMID:
23687349
4.

Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.

Polak E, Ficek A, Radvanszky J, Soltysova A, Urge O, Cmelova E, Kantarska D, Kadasi L.

Gene. 2013 Sep 10;526(2):347-55. doi: 10.1016/j.gene.2013.05.057. Epub 2013 Jun 10.

PMID:
23764561
5.

Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.

Cao YY, Qu YJ, Song F, Zhang T, Bai JL, Jin YW, Wang H.

Mol Genet Metab. 2014 Dec;113(4):261-6. doi: 10.1016/j.ymgme.2014.10.004. Epub 2014 Oct 12.

PMID:
25456745
6.

Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis.

Desviat LR, Pérez B, Ugarte M.

Clin Chim Acta. 2006 Nov;373(1-2):164-7. Epub 2006 May 12.

PMID:
16875683
7.

Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.

Trujillano D, Weiss ME, Schneider J, Köster J, Papachristos EB, Saviouk V, Zakharkina T, Nahavandi N, Kovacevic L, Rolfs A.

J Mol Diagn. 2015 Mar;17(2):162-70. doi: 10.1016/j.jmoldx.2014.11.004. Epub 2014 Dec 31.

PMID:
25556971
8.

[Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing].

Cao Y, Qu Y, Song F, Bai J, Jin Y, Wang H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Feb;32(1):16-20. doi: 10.3760/cma.j.issn.1003-9406.2015.01.004. Chinese.

PMID:
25636092
10.

Diagnosis of tetrahydrobiopterin (BH4) responsive mild phenylketonuria in Japan over the past 10 years.

Shintaku H, Ohwada M, Aoki K, Kitagawa T, Yamano T.

Ann Acad Med Singapore. 2008 Dec;37(12 Suppl):77-2.

PMID:
19904458
11.

Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.

Okano Y, Kudo S, Nishi Y, Sakaguchi T, Aso K.

J Hum Genet. 2011 Apr;56(4):306-12. doi: 10.1038/jhg.2011.10. Epub 2011 Feb 10.

PMID:
21307867
12.

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.

Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U.

Mol Genet Metab. 2011;104 Suppl:S2-9. doi: 10.1016/j.ymgme.2011.08.017. Epub 2011 Aug 26. Review.

PMID:
21937252
13.

Incidence of BH4-responsiveness in phenylalanine-hydroxylase-deficient Italian patients.

Fiori L, Fiege B, Riva E, Giovannini M.

Mol Genet Metab. 2005 Dec;86 Suppl 1:S67-74. Epub 2005 Sep 28.

PMID:
16198137
14.

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.

Halbritter J, Diaz K, Chaki M, Porath JD, Tarrier B, Fu C, Innis JL, Allen SJ, Lyons RH, Stefanidis CJ, Omran H, Soliman NA, Otto EA.

J Med Genet. 2012 Dec;49(12):756-67. doi: 10.1136/jmedgenet-2012-100973.

PMID:
23188109
15.

Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.

Faiz F, Allcock RJ, Hooper AJ, van Bockxmeer FM.

Atherosclerosis. 2013 Oct;230(2):249-55. doi: 10.1016/j.atherosclerosis.2013.07.050. Epub 2013 Aug 4.

PMID:
24075752
16.

In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Okano Y, Hase Y, Kawajiri M, Nishi Y, Inui K, Sakai N, Tanaka Y, Takatori K, Kajiwara M, Yamano T.

Pediatr Res. 2004 Nov;56(5):714-9. Epub 2004 Aug 19.

PMID:
15319459
17.

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J.

J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7.

18.

Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.

Lee YW, Lee DH, Kim ND, Lee ST, Ahn JY, Choi TY, Lee YK, Kim SH, Kim JW, Ki CS.

Exp Mol Med. 2008 Oct 31;40(5):533-40.

19.
20.

Phenylalanine hydroxylase deficiency: molecular epidemiology and predictable BH4-responsiveness in South Portugal PKU patients.

Rivera I, Mendes D, Afonso Â, Barroso M, Ramos R, Janeiro P, Oliveira A, Gaspar A, Tavares de Almeida I.

Mol Genet Metab. 2011;104 Suppl:S86-92. doi: 10.1016/j.ymgme.2011.07.026. Epub 2011 Jul 31.

PMID:
21871829
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