Hietala M - Search Results

1

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

Krawitz PM, Murakami Y, Rieß A, Hietala M, Krüger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D. Krawitz PM, et al. Among authors: hietala m. Am J Hum Genet. 2013 Apr 4;92(4):584-9. doi: 10.1016/j.ajhg.2013.03.011. Am J Hum Genet. 2013. PMID: 23561847 Free PMC article.

2

Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.

Stange K, Thieme T, Hertel K, Kuhfahl S, Janecke AR, Piza-Katzer H, Penttinen M, Hietala M, Dathe K, Mundlos S, Schwarz E, Seemann P. Stange K, et al. Among authors: hietala m. J Mol Biol. 2014 Sep 23;426(19):3221-3231. doi: 10.1016/j.jmb.2014.07.029. Epub 2014 Aug 1. J Mol Biol. 2014. PMID: 25092592

3

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. Hietala M, et al. Am J Hum Genet. 1995 Jun;56(6):1493-500. Am J Hum Genet. 1995. PMID: 7762573 Free PMC article.

4

A 69-year-old woman with Coffin-Siris syndrome.

Määttänen L, Hietala M, Ignatius J, Arvio M. Määttänen L, et al. Among authors: hietala m. Am J Med Genet A. 2018 Aug;176(8):1764-1767. doi: 10.1002/ajmg.a.38844. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055038

5

Prospects of carrier screening of aspartylglucosaminuria in Finland.

Hietala M, Grön K, Syvänen AC, Peltonen L, Aula P. Hietala M, et al. Eur J Hum Genet. 1993;1(4):296-300. doi: 10.1159/000472427. Eur J Hum Genet. 1993. PMID: 8081942

6

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.

Tischkowitz M, Colas C, Pouwels S, Hoogerbrugge N; PHTS Guideline Development Group; European Reference Network GENTURIS. Tischkowitz M, et al. Eur J Hum Genet. 2020 Oct;28(10):1387-1393. doi: 10.1038/s41431-020-0651-7. Epub 2020 Jun 12. Eur J Hum Genet. 2020. PMID: 32533092 Free PMC article.

7

Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.

Isoniemi A, Hietala M, Aula P, Jalanko A, Peltonen L. Isoniemi A, et al. Among authors: hietala m. Hum Mutat. 1995;5(4):318-26. doi: 10.1002/humu.1380050408. Hum Mutat. 1995. PMID: 7627186

8

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. Laitinen A, et al. Among authors: hietala m. Clin Genet. 1997 Mar;51(3):174-8. doi: 10.1111/j.1399-0004.1997.tb02448.x. Clin Genet. 1997. PMID: 9137882

9

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities.

Penttinen M, Koillinen H, Niinikoski H, Mäkitie O, Hietala M. Penttinen M, et al. Among authors: hietala m. Am J Med Genet A. 2009 Mar;149A(3):451-5. doi: 10.1002/ajmg.a.32644. Am J Med Genet A. 2009. PMID: 19208376

10

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H. Farach LS, et al. Among authors: hietala m. Am J Med Genet A. 2017 Mar;173(3):771-775. doi: 10.1002/ajmg.a.38083. Am J Med Genet A. 2017. PMID: 28211972 Review.

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