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Items: 1 to 50 of 181

1.

The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing era.

Polvi A, Linturi H, Varilo T, Anttonen AK, Byrne M, Fokkema IF, Almusa H, Metzidis A, Avela K, Aula P, Kestilä M, Muilu J.

Hum Mutat. 2013 Nov;34(11):1458-66. doi: 10.1002/humu.22389. Epub 2013 Sep 13.

PMID:
23904198
2.

Prenatal diagnosis of free sialic acid storage disorders (SASD).

Aula N, Aula P.

Prenat Diagn. 2006 Aug;26(8):655-8.

PMID:
16715535
3.

Neurocognitive profiles in Salla disease.

Alajoki L, Varho T, Posti K, Aula P, Korhonen T.

Dev Med Child Neurol. 2004 Dec;46(12):832-7.

4.

Promoter analysis of the human SLC7A7 gene encoding y+L amino acid transporter-1 (y+LAT-1).

Mykkänen J, Toivonen M, Kleemola M, Savontaus ML, Simell O, Aula P, Huoponen K.

Biochem Biophys Res Commun. 2003 Feb 21;301(4):855-61.

PMID:
12589791
5.

Free sialic acid storage (Salla) disease in Sweden.

Erikson A, Aula N, Aula P, Månsson JE.

Acta Paediatr. 2002;91(12):1324-7.

PMID:
12578289
6.

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.

Aula N, Jalanko A, Aula P, Peltonen L.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):99-107.

PMID:
12359136
7.

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.

Varho TT, Alajoki LE, Posti KM, Korhonen TT, Renlund MG, Nyman SR, Sillanpää ML, Aula PP.

Pediatr Neurol. 2002 Apr;26(4):267-73.

PMID:
11992753
8.

[From avoidance of proteins to amino acid transporter gene--a long journey of lysinuric protein intolerance].

Aula P, Simell O.

Duodecim. 1999;115(21):2307-8. Finnish. No abstract available.

PMID:
11973863
9.

Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells.

Toivonen M, Mykkänen J, Aula P, Simell O, Savontaus ML, Huoponen K.

Biochem Biophys Res Commun. 2002 Mar 15;291(5):1173-9.

PMID:
11883940
10.

[The claw hand: first sign of a metabolic disease].

Penttinen M, Aärimaa T, Aula P.

Duodecim. 1999;115(3):289-93. Finnish. No abstract available.

PMID:
11830875
11.

Database for the mutations of the Finnish disease heritage.

Sipilä K, Aula P.

Hum Mutat. 2002 Jan;19(1):16-22.

PMID:
11754099
12.

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.

Salomäki P, Aula N, Juvonen V, Renlund M, Aula P.

Prenat Diagn. 2001 May;21(5):354-8.

PMID:
11360275
13.

A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.

Järvinen O, Hietala M, Aalto AM, Arvio M, Uutela A, Aula P, Kääriäinen H.

Clin Genet. 2000 Dec;58(6):447-54.

PMID:
11149613
14.

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Månsson JE, Aula P, Peltonen L.

Am J Hum Genet. 2000 Oct;67(4):832-40. Epub 2000 Aug 17.

15.

Central and peripheral nervous system dysfunction in the clinical variation of Salla disease.

Varho T, Jääskeläinen S, Tolonen U, Sonninen P, Vainionpää L, Aula P, Sillanpää M.

Neurology. 2000 Jul 12;55(1):99-104.

PMID:
10891913
16.

Origin of Finnish mutations causing aspartylglucosaminuria.

Valkonen S, Hietala M, Savontaus ML, Aula P.

Hereditas. 1999;131(3):191-5.

17.

Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).

Mykkänen J, Torrents D, Pineda M, Camps M, Yoldi ME, Horelli-Kuitunen N, Huoponen K, Heinonen M, Oksanen J, Simell O, Savontaus ML, Zorzano A, Palacín M, Aula P.

Hum Mol Genet. 2000 Feb 12;9(3):431-8.

PMID:
10655553
18.

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM.

Nat Genet. 1999 Dec;23(4):462-5.

PMID:
10581036
19.

Characterization of the lysinuric protein intolerance (LPI) region within T-cell receptor alpha/delta gene cluster on chromosome site 14q11.

Lauteala T, Mykkänen J, Horelli-Kuitunen N, Aaltonen J, Paavola P, Savontaus ML, Simell O, Aula P.

Hereditas. 1999;130(1):19-24.

20.

Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami.

Lahermo P, Savontaus ML, Sistonen P, Béres J, de Knijff P, Aula P, Sajantila A.

Eur J Hum Genet. 1999 May-Jun;7(4):447-58.

21.

A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease.

Varho T, Komu M, Sonninen P, Holopainen I, Nyman S, Manner T, Sillanpää M, Aula P, Lundbom N.

Neurology. 1999 May 12;52(8):1668-72. Erratum in: Neurology 1999 Sep 22;53(5):1162.

PMID:
10331697
22.

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.

Torrents D, Mykkänen J, Pineda M, Feliubadaló L, Estévez R, de Cid R, Sanjurjo P, Zorzano A, Nunes V, Huoponen K, Reinikainen A, Simell O, Savontaus ML, Aula P, Palacín M.

Nat Genet. 1999 Mar;21(3):293-6.

PMID:
10080182
23.

Increased brain glucose utilization in Salla disease (free sialic acid storage disorder).

Suhonen-Polvi H, Varho T, Metsähonkala L, Haataja L, Ruotsalainen U, Haaparanta M, Bergman J, Solin O, Aärimaa T, Holopainen I, Vainionpää L, Manner T, Jääskeläinen S, Renlund M, Sillanpää M, Aula P.

J Nucl Med. 1999 Jan;40(1):12-8.

24.

Genetic homogeneity of lysinuric protein intolerance.

Lauteala T, Mykkänen J, Sperandeo MP, Gasparini P, Savontaus ML, Simell O, Andria G, Sebastio G, Aula P.

Eur J Hum Genet. 1998 Nov-Dec;6(6):612-5.

25.

Attitudes towards genetic testing: analysis of contradictions.

Jallinoja P, Hakonen A, Aro AR, Niemelä P, Hietala M, Lönnqvist J, Peltonen L, Aula P.

Soc Sci Med. 1998 May;46(10):1367-74.

PMID:
9665567
26.

Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H, Saarinen A, Wallden T, Herrgård E, Aula P, Savontaus ML.

Hum Mutat. 1998;12(1):59-68.

PMID:
9633821
27.

Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland.

Meretoja P, Silander K, Kalimo H, Aula P, Meretoja A, Savontaus ML.

Neuromuscul Disord. 1997 Dec;7(8):529-32.

PMID:
9447611
28.

mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy.

Lamminen T, Huoponen K, Sistonen P, Juvonen V, Lahermo P, Aula P, Nikoskelainen E, Savontaus ML.

Eur J Hum Genet. 1997 Sep-Oct;5(5):271-9.

PMID:
9412783
29.

Acceptance of genetic testing in a general population: age, education and gender differences.

Aro AR, Hakonen A, Hietala M, Lönnqvist J, Niemelä P, Peltonen L, Aula P.

Patient Educ Couns. 1997 Sep-Oct;32(1-2):41-9.

PMID:
9355571
30.

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.

Silander K, Meretoja P, Pihko H, Juvonen V, Issakainen J, Aula P, Savontaus ML.

Hum Genet. 1997 Sep;100(3-4):391-7.

PMID:
9272161
31.

Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases.

Majander A, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus ML, Wikström M.

FEBS Lett. 1997 Jul 28;412(2):351-4.

32.

Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance.

Lauteala T, Horelli-Kuitunen N, Closs E, Savontaus MI, Lukkarinen M, Simell O, Cunningham J, Palotie A, Aula P.

Hum Genet. 1997 Jul;100(1):80-3.

PMID:
9225973
33.

Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.

Lauteala T, Sistonen P, Savontaus ML, Mykkänen J, Simell J, Lukkarinen M, Simell O, Aula P.

Am J Hum Genet. 1997 Jun;60(6):1479-86.

34.

New progeroid disorder.

Penttinen M, Niemi KM, Vinkka-Puhakka H, Johansson R, Aula P.

Am J Med Genet. 1997 Mar 17;69(2):182-7.

PMID:
9056558
35.

Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.

Laitinen A, Hietala M, Haworth JC, Schroeder ML, Seargeant LE, Greenberg CR, Aula P.

Clin Genet. 1997 Mar;51(3):174-8.

PMID:
9137882
36.

Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis.

Männikkö M, Kestilä M, Lenkkeri U, Alakurtti H, Holmberg C, Leisti J, Salonen R, Aula P, Mustonen A, Peltonen L, Tryggvason K.

Kidney Int. 1997 Mar;51(3):868-72.

37.

Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy.

Juvonen V, Nikoskelainen E, Lamminen T, Penttinen M, Aula P, Savontaus ML.

Hum Mutat. 1997;9(5):412-7.

PMID:
9143920
38.

A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect.

Leppänen P, Isosomppi J, Schleutker J, Aula P, Peltonen L.

Genomics. 1996 Oct 1;37(1):62-7.

PMID:
8921371
39.

DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices.

Hietala M, Aula P, Syvänen AC, Isoniemi A, Peltonen L, Palotie A.

Clin Chem. 1996 Sep;42(9):1398-404.

40.

The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA.

Lahermo P, Sajantila A, Sistonen P, Lukka M, Aula P, Peltonen L, Savontaus ML.

Am J Hum Genet. 1996 Jun;58(6):1309-22.

41.

[Attitudes toward genetic testing in Finland].

Aula P, Hietala M, Niemelä P, Aro AR, Hakonen A, Peltonen L.

Duodecim. 1996;112(2):95-102. Finnish. No abstract available.

PMID:
10590612
42.

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients.

Silander K, Meretoja P, Nelis E, Timmerman V, Van Broeckhoven C, Aula P, Savontaus ML.

Hum Mutat. 1996;8(4):304-10.

PMID:
8956034
43.

Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.

Schleutker J, Sistonen P, Aula P.

J Med Genet. 1996 Jan;33(1):36-41.

44.
45.

Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number.

Laan M, Grön-Virta K, Salo A, Aula P, Peltonen L, Palotie A, Syvänen AC.

Hum Genet. 1995 Sep;96(3):275-80.

PMID:
7649541
46.

Genes and languages in Europe: an analysis of mitochondrial lineages.

Sajantila A, Lahermo P, Anttinen T, Lukka M, Sistonen P, Savontaus ML, Aula P, Beckman L, Tranebjaerg L, Gedde-Dahl T, Issel-Tarver L, DiRienzo A, Pääbo S.

Genome Res. 1995 Aug;5(1):42-52.

47.

Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease: a survey from Finland.

Hietala M, Hakonen A, Aro AR, Niemelä P, Peltonen L, Aula P.

Am J Hum Genet. 1995 Jun;56(6):1493-500.

48.

Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.

Schleutker J, Laine AP, Haataja L, Renlund M, Weissenbach J, Aula P, Peltonen L.

Genomics. 1995 May 20;27(2):286-92.

PMID:
7557994
49.

A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.

Lamminen T, Majander A, Juvonen V, Wikström M, Aula P, Nikoskelainen E, Savontous ML.

Am J Hum Genet. 1995 May;56(5):1238-40. No abstract available.

50.

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