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    Results: 31

    1.

    A novel CACNA1F gene mutation causes Aland Island eye disease.

    Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mäntyjärvi M, Forsius H, de la Chapelle A, Alitalo T.

    Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502.PMID: 17525176 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.

    Jalkanen R, Mäntyjärvi M, Tobias R, Isosomppi J, Sankila EM, Alitalo T, Bech-Hansen NT.

    J Med Genet. 2006 Aug;43(8):699-704. Epub 2006 Feb 27.PMID: 16505158 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    Genetic background of HSH in three Polish families and a patient with an X;9 translocation.

    Jalkanen R, Pronicka E, Tyynismaa H, Hanauer A, Walder R, Alitalo T.

    Eur J Hum Genet. 2006 Jan;14(1):55-62.PMID: 16267500 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.

    Lauronen L, Jalkanen R, Huttunen J, Carlsson E, Tuupanen S, Lindh S, Forsius H, Sankila EM, Alitalo T.

    Br J Ophthalmol. 2005 Jul;89(7):820-4.PMID: 15965158 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations.

    Höglund P, Jalkanen R, Marttinen E, Alitalo T.

    Am J Med Genet A. 2003 Dec 15;123A(3):290-5.PMID: 14608652 [PubMed - indexed for MEDLINE]Related articles

    6.

    A new genetic locus for X linked progressive cone-rod dystrophy.

    Jalkanen R, Demirci FY, Tyynismaa H, Bech-Hansen T, Meindl A, Peippo M, Mäntyjärvi M, Gorin MB, Alitalo T.

    J Med Genet. 2003 Jun;40(6):418-23.PMID: 12807962 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families.

    Tyynismaa H, Sistonen P, Tuupanen S, Tervo T, Dammert A, Latvala T, Alitalo T.

    Invest Ophthalmol Vis Sci. 2002 Oct;43(10):3160-4.PMID: 12356819 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.

    Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, Meindl A, Pusch CM.

    Eur J Hum Genet. 2002 Aug;10(8):449-56.PMID: 12111638 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.

    Demirci FY, Rigatti BW, Wen G, Radak AL, Mah TS, Baic CL, Traboulsi EI, Alitalo T, Ramser J, Gorin MB.

    Am J Hum Genet. 2002 Apr;70(4):1049-53. Epub 2002 Feb 20.PMID: 11857109 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy.

    Mäntyjärvi M, Nurmenniemi P, Partanen J, Myöhänen T, Peippo M, Alitalo T.

    Acta Ophthalmol Scand. 2001 Aug;79(4):359-65.PMID: 11453854 [PubMed - indexed for MEDLINE]Related articles

    11.

    Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene.

    Huopaniemi L, Fellman J, Rantala A, Eriksson A, Forsius H, De La Chapelle A, Alitalo T.

    Ann Hum Genet. 1999 Nov;63(Pt 6):521-33.PMID: 11246454 [PubMed - indexed for MEDLINE]Related articles

    12.

    Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.

    Huopaniemi L, Tyynismaa H, Rantala A, Rosenberg T, Alitalo T.

    Hum Mutat. 2000 Oct;16(4):307-14.PMID: 11013441 [PubMed - indexed for MEDLINE]Related articles

    13.

    Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.

    Tyynismaa H, Kaitila I, Näntö-Salonen K, Ala-Houhala M, Alitalo T.

    Hum Mutat. 2000 Apr;15(4):383-4.PMID: 10737991 [PubMed - indexed for MEDLINE]Related articles

    14.

    Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.

    Huopaniemi L, Rantala A, Forsius H, Somer M, de la Chapelle A, Alitalo T.

    Eur J Hum Genet. 1999 Apr;7(3):368-76.PMID: 10234514 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    The isolation of CpG islands from human chromosomal regions 11q13 and Xp22 by segregation of partlymelted molecules.

    Shiraishi M, Oates AJ, Li X, Hosoda F, Ohki M, Alitalo T, Lerman LS, Sekiya T.

    Nucleic Acids Res. 1998 Dec 15;26(24):5544-50.PMID: 9837981 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis.

    Huopaniemi L, Rantala A, Tahvanainen E, de la Chapelle A, Alitalo T.

    Am J Hum Genet. 1997 May;60(5):1139-49.PMID: 9150161 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    The chromosomal organization of the human endogenous retrovirus-like sequence HERV-H: clustering of the HERV-H sequences in a 300-kb region close to the GRPR locus on the X chromosome.

    Shiraishi M, Alitalo T, Sekiya T.

    DNA Res. 1996 Dec 31;3(6):425-9.PMID: 9097046 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes.

    Alitalo T, Francis F, Kere J, Lehrach H, Schlessinger D, Willard HF.

    Genomics. 1995 Feb 10;25(3):691-700.PMID: 7759104 [PubMed - indexed for MEDLINE]Related articles

    19.

    Expression of decorin in human tissues and cell lines and defined chromosomal assignment of the gene locus (DCN).

    Pulkkinen L, Alitalo T, Krusius T, Peltonen L.

    Cytogenet Cell Genet. 1992;60(2):107-11.PMID: 1611907 [PubMed - indexed for MEDLINE]Related articles

    20.

    Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region.

    Alitalo T, Kruse TA, Ahrens P, Albertsen HM, Eriksson AW, de la Chapelle A.

    Hum Genet. 1991 Apr;86(6):599-603.PMID: 1673960 [PubMed - indexed for MEDLINE]Related articles

    21.

    Refined localization of the gene causing X-linked juvenile retinoschisis.

    Alitalo T, Kruse TA, de la Chapelle A.

    Genomics. 1991 Mar;9(3):505-10.PMID: 2032721 [PubMed - indexed for MEDLINE]Related articles

    22.

    Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.

    Alitalo T, Kruse TA, Forsius H, Eriksson AW, de la Chapelle A.

    Am J Hum Genet. 1991 Jan;48(1):31-8.PMID: 1985461 [PubMed - indexed for MEDLINE]Related articlesFree article

    23.

    Human sex-chromosome-specific repeats within a region of pseudoautosomal/Yq homology.

    Fisher EM, Alitalo T, Luoh SW, de la Chapelle A, Page DC.

    Genomics. 1990 Aug;7(4):625-8.PMID: 2387589 [PubMed - indexed for MEDLINE]Related articles

    24.

    Chromosomal localization of ZFX--a human gene that escapes X inactivation--and its murine homologs.

    Page DC, Disteche CM, Simpson EM, de la Chapelle A, Andersson M, Alitalo T, Brown LG, Green P, Akots G.

    Genomics. 1990 May;7(1):37-46.PMID: 1970799 [PubMed - indexed for MEDLINE]Related articles

    25.

    The gene encoding human low-molecular weight insulin-like growth-factor binding protein (IGF-BP25): regional localization to 7p12-p13 and description of a DNA polymorphism.

    Alitalo T, Kontula K, Koistinen R, Aalto-Setälä K, Julkunen M, Jänne OA, Seppälä M, de la Chapelle A.

    Hum Genet. 1989 Nov;83(4):335-8.PMID: 2478445 [PubMed - indexed for MEDLINE]Related articles

    26.

    Population cytogenetics of folate-sensitive fragile sites. II. Autosomal rare fragile sites.

    Kähkönen M, Tengström C, Alitalo T, Matilainen R, Kaski M, Airaksinen E.

    Hum Genet. 1989 Apr;82(1):3-8.PMID: 2714776 [PubMed - indexed for MEDLINE]Related articles

    27.

    Determination of the breakpoints of 1;7 translocations in myelodysplastic syndrome by in situ hybridization using chromosome-specific alpha satellite DNA from human chromosomes 1 and 7.

    Alitalo T, Willard HF, de la Chapelle A.

    Cytogenet Cell Genet. 1989;50(1):49-53.PMID: 2743817 [PubMed - indexed for MEDLINE]Related articles

    28.

    Linkage relationships and gene order around the locus for X-linked retinoschisis.

    Alitalo T, Forsius H, Kärnä J, Frants RR, Eriksson AW, Wood S, Kruse TA, de la Chapelle A.

    Am J Hum Genet. 1988 Oct;43(4):476-83.PMID: 3177388 [PubMed - indexed for MEDLINE]Related articlesFree article

    29.

    Molecular characterization of a Y;15 translocation segregating in a family.

    Alitalo T, Tiihonen J, Hakola P, de la Chapelle A.

    Hum Genet. 1988 May;79(1):29-35.PMID: 3366460 [PubMed - indexed for MEDLINE]Related articles

    30.

    Prevalence of the fragile X syndrome in four birth cohorts of children of school age.

    Kähkönen M, Alitalo T, Airaksinen E, Matilainen R, Launiala K, Autio S, Leisti J.

    Hum Genet. 1987 Sep;77(1):85-7.PMID: 3623561 [PubMed - indexed for MEDLINE]Related articles

    31.

    X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85.

    Alitalo T, Kärnä J, Forsius H, de la Chapelle A.

    Clin Genet. 1987 Sep;32(3):192-5.PMID: 2887320 [PubMed - indexed for MEDLINE]Related articles

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