Visapää I - Search Results

1

Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37.

Visapää I, Fellman V, Varilo T, Palotie A, Raivio KO, Peltonen L. Visapää I, et al. Am J Hum Genet. 1998 Nov;63(5):1396-403. doi: 10.1086/302123. Am J Hum Genet. 1998. PMID: 9792866 Free PMC article.

2

ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis.

Visapää I, Fellman V, Lanyi L, Peltonen L. Visapää I, et al. Am J Med Genet. 2002 May 1;109(3):202-5. doi: 10.1002/ajmg.10331. Am J Med Genet. 2002. PMID: 11977179

3

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.

Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L. Visapää I, et al. Am J Hum Genet. 2002 Oct;71(4):863-76. doi: 10.1086/342773. Epub 2002 Sep 5. Am J Hum Genet. 2002. PMID: 12215968 Free PMC article.

4

Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25.

Visapää I, Salonen R, Varilo T, Paavola P, Peltonen L. Visapää I, et al. Am J Hum Genet. 1999 Oct;65(4):1086-95. doi: 10.1086/302603. Am J Hum Genet. 1999. PMID: 10486328 Free PMC article.

5

Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant.

Fellman V, Visapää I, Vujic M, Wennerholm UB, Peltonen L. Fellman V, et al. Among authors: visapaa i. Acta Obstet Gynecol Scand. 2002 May;81(5):398-402. doi: 10.1034/j.1600-0412.2001.810504.x. Acta Obstet Gynecol Scand. 2002. PMID: 12027811 Free article.

6

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.

Mee L, Honkala H, Kopra O, Vesa J, Finnilä S, Visapää I, Sang TK, Jackson GR, Salonen R, Kestilä M, Peltonen L. Mee L, et al. Among authors: visapaa i. Hum Mol Genet. 2005 Jun 1;14(11):1475-88. doi: 10.1093/hmg/ddi157. Epub 2005 Apr 20. Hum Mol Genet. 2005. PMID: 15843405

7

Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.

Patrakka J, Kestilä M, Wartiovaara J, Ruotsalainen V, Tissari P, Lenkkeri U, Männikkö M, Visapää I, Holmberg C, Rapola J, Tryggvason K, Jalanko H. Patrakka J, et al. Among authors: visapaa i. Kidney Int. 2000 Sep;58(3):972-80. doi: 10.1046/j.1523-1755.2000.00254.x. Kidney Int. 2000. PMID: 10972661 Free article.

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