Ala-Kokko L - Search Results

1

Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.

Masmoudi S, Tlili A, Majava M, Ghorbel AM, Chardenoux S, Lemainque A, Zina ZB, Moala J, Männikkö M, Weil D, Lathrop M, Ala-Kokko L, Drira M, Petit C, Ayadi H. Masmoudi S, et al. Eur J Hum Genet. 2003 Feb;11(2):185-8. doi: 10.1038/sj.ejhg.5200934. Eur J Hum Genet. 2003. PMID: 12634867

2

A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family.

Tlili A, Männikkö M, Charfedine I, Lahmar I, Benzina Z, Ben Amor M, Driss N, Ala-Kokko L, Drira M, Masmoudi S, Ayadi H. Tlili A, et al. Hum Hered. 2005;60(3):123-8. doi: 10.1159/000088974. Epub 2005 Oct 18. Hum Hered. 2005. PMID: 16244493

3

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.

Melkoniemi M, Koillinen H, Männikkö M, Warman ML, Pihlajamaa T, Kääriäinen H, Rautio J, Hukki J, Stofko JA, Cisneros GJ, Krakow D, Cohn DH, Kere J, Ala-Kokko L. Melkoniemi M, et al. Eur J Hum Genet. 2003 Mar;11(3):265-70. doi: 10.1038/sj.ejhg.5200950. Eur J Hum Genet. 2003. PMID: 12673280

4

Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 6.

Loughlin J, Mustafa Z, Dowling B, Southam L, Marcelline L, Räinä SS, Ala-Kokko L, Chapman K. Loughlin J, et al. Eur J Hum Genet. 2002 Sep;10(9):562-8. doi: 10.1038/sj.ejhg.5200848. Eur J Hum Genet. 2002. PMID: 12173034

5

Putative susceptibility locus on chromosome 21q for lumbar disc disease (LDD) in the Finnish population.

Virtanen IM, Noponen N, Barral S, Karppinen J, Li H, Vuoristo M, Niinimäki J, Ott J, Ala-Kokko L, Männikkö M. Virtanen IM, et al. J Bone Miner Res. 2007 May;22(5):701-7. doi: 10.1359/jbmr.070123. J Bone Miner Res. 2007. PMID: 17266399 Free article. Clinical Trial.

6

Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.

McAlinden A, Majava M, Bishop PN, Perveen R, Black GC, Pierpont ME, Ala-Kokko L, Männikkö M. McAlinden A, et al. Hum Mutat. 2008 Jan;29(1):83-90. doi: 10.1002/humu.20603. Hum Mutat. 2008. PMID: 17721977

7

Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia.

Majava M, Bishop PN, Hägg P, Scott PG, Rice A, Inglehearn C, Hammond CJ, Spector TD, Ala-Kokko L, Männikkö M. Majava M, et al. Hum Mutat. 2007 Apr;28(4):336-44. doi: 10.1002/humu.20444. Hum Mutat. 2007. PMID: 17117407

8

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.

Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M, Devriendt K, Hurst J, Kitsos G, Niedrist D, Petersen MB, Shears D, Stolte-Dijkstra I, Van Hagen JM, Ala-Kokko L, Männikkö M, Mortier GR. Majava M, et al. Am J Med Genet A. 2007 Feb 1;143A(3):258-64. doi: 10.1002/ajmg.a.31586. Am J Med Genet A. 2007. PMID: 17236192

9

Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis.

Korvala J, Löija M, Mäkitie O, Sochett E, Jüppner H, Schnabel D, Mora S, Cole WG, Ala-Kokko L, Männikkö M. Korvala J, et al. Among authors: ala kokko l. Eur J Med Genet. 2012 Oct;55(10):515-9. doi: 10.1016/j.ejmg.2012.06.011. Epub 2012 Jul 9. Eur J Med Genet. 2012. PMID: 22789636

10

Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.

Temtamy SA, Männikkö M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH. Temtamy SA, et al. Am J Med Genet A. 2006 Jun 1;140(11):1189-95. doi: 10.1002/ajmg.a.31205. Am J Med Genet A. 2006. PMID: 16637051

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