Koillinen H - Search Results

1

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. Among authors: koillinen h. Eur J Hum Genet. 2003 Mar;11(3):265-70. doi: 10.1038/sj.ejhg.5200950. Eur J Hum Genet. 2003. PMID: 12673280

2

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.

Peyrard-Janvid M, Leslie EJ, Kousa YA, Smith TL, Dunnwald M, Magnusson M, Lentz BA, Unneberg P, Fransson I, Koillinen HK, Rautio J, Pegelow M, Karsten A, Basel-Vanagaite L, Gordon W, Andersen B, Svensson T, Murray JC, Cornell RA, Kere J, Schutte BC. Peyrard-Janvid M, et al. Among authors: koillinen hk. Am J Hum Genet. 2014 Jan 2;94(1):23-32. doi: 10.1016/j.ajhg.2013.11.009. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360809 Free PMC article.

3

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.

Peyrard-Janvid M, Pegelow M, Koillinen H, Larsson C, Fransson I, Rautio J, Hukki J, Larson O, Karsten AL, Kere J. Peyrard-Janvid M, et al. Among authors: koillinen h. Eur J Hum Genet. 2005 Dec;13(12):1261-7. doi: 10.1038/sj.ejhg.5201493. Eur J Hum Genet. 2005. PMID: 16160700

4

Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.

Koillinen H, Wong FK, Rautio J, Ollikainen V, Karsten A, Larson O, Teh BT, Huggare J, Lahermo P, Larsson C, Kere J. Koillinen H, et al. Eur J Hum Genet. 2001 Oct;9(10):747-52. doi: 10.1038/sj.ejhg.5200713. Eur J Hum Genet. 2001. PMID: 11781685

5

Linkage and linkage disequilibrium searched for between non-syndromic cleft palate and four candidate loci.

Koillinen H, Ollikainen V, Rautio J, Hukki J, Kere J. Koillinen H, et al. J Med Genet. 2003 Jun;40(6):464-8. doi: 10.1136/jmg.40.6.464. J Med Genet. 2003. PMID: 12807970 Free PMC article. No abstract available.

6

A genome-wide scan of non-syndromic cleft palate only (CPO) in Finnish multiplex families.

Koillinen H, Lahermo P, Rautio J, Hukki J, Peyrard-Janvid M, Kere J. Koillinen H, et al. J Med Genet. 2005 Feb;42(2):177-84. doi: 10.1136/jmg.2004.019646. J Med Genet. 2005. PMID: 15689458 Free PMC article. No abstract available.

7

Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome.

Wong FK, Koillinen H, Rautio J, Teh BT, Ranta R, Karsten A, Larson O, Linder-Aronson S, Huggare J, Larsson C, Kere J. Wong FK, et al. Among authors: koillinen h. J Med Genet. 2001 Mar;38(3):198-202. doi: 10.1136/jmg.38.3.198. J Med Genet. 2001. PMID: 11303516 Free PMC article. No abstract available.

8

Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.

Pegelow M, Koillinen H, Magnusson M, Fransson I, Unneberg P, Kere J, Karsten A, Peyrard-Janvid M. Pegelow M, et al. Among authors: koillinen h. Cleft Palate Craniofac J. 2014 Jan;51(1):49-55. doi: 10.1597/11-220. Epub 2013 Feb 8. Cleft Palate Craniofac J. 2014. PMID: 23394314

9

Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.

Rorick NK, Kinoshita A, Weirather JL, Peyrard-Janvid M, de Lima RL, Dunnwald M, Shanske AL, Moretti-Ferreira D, Koillinen H, Kere J, Mansilla MA, Murray JC, Goudy SL, Schutte BC. Rorick NK, et al. Among authors: koillinen h. Am J Med Genet A. 2011 Jun;155A(6):1314-21. doi: 10.1002/ajmg.a.33980. Epub 2011 May 13. Am J Med Genet A. 2011. PMID: 21574244 Free PMC article.

10

PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome.

Gielen RCAM, Reinders MGHC, Koillinen HK, Paulussen ADC, Mosterd K, van Geel M. Gielen RCAM, et al. Among authors: koillinen hk. J Hum Genet. 2018 Sep;63(9):965-969. doi: 10.1038/s10038-018-0485-0. Epub 2018 Jun 21. J Hum Genet. 2018. PMID: 29930296

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