Ala-Mello S - Search Results

1

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A. Zweier C, et al. Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. doi: 10.1016/j.ejmg.2005.01.003. Epub 2005 Feb 25. Eur J Med Genet. 2005. PMID: 16053902

2

The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years.

Ala-Mello S, Peippo M. Ala-Mello S, et al. Am J Med Genet A. 2004 Oct 15;130A(3):317-9. doi: 10.1002/ajmg.a.30303. Am J Med Genet A. 2004. PMID: 15378536

3

Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism.

Ala-Mello S, Sankila EM, Koskimies O, de la Chapelle A, Kääriäinen H. Ala-Mello S, et al. J Med Genet. 1998 Apr;35(4):279-83. doi: 10.1136/jmg.35.4.279. J Med Genet. 1998. PMID: 9598719 Free PMC article.

4

Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions.

Vuorela P, Ala-Mello S, Saloranta C, Penttinen M, Pöyhönen M, Huoponen K, Borozdin W, Bausch B, Botzenhart EM, Wilhelm C, Kääriäinen H, Kohlhase J. Vuorela P, et al. Genet Med. 2007 Oct;9(10):690-4. doi: 10.1097/gim.0b013e318156e68e. Genet Med. 2007. PMID: 18073582 Free article.

5

Two more diagnostic signs in the Floating-Harbor syndrome.

Ala-Mello S, Peippo M. Ala-Mello S, et al. Clin Dysmorphol. 1996 Jan;5(1):85-8. doi: 10.1097/00019605-199601000-00014. Clin Dysmorphol. 1996. PMID: 8867666

6

Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups.

Ala-Mello S, Koskimies O, Rapola J, Kääriäinen H. Ala-Mello S, et al. Eur J Hum Genet. 1999 Feb-Mar;7(2):205-11. doi: 10.1038/sj.ejhg.5200268. Eur J Hum Genet. 1999. PMID: 10196704

7

Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly.

Ala-Mello S, Siggberg L, Knuutila S, von Koskull H, Taskinen M, Peippo M. Ala-Mello S, et al. Am J Med Genet A. 2008 Oct 1;146A(19):2490-4. doi: 10.1002/ajmg.a.32479. Am J Med Genet A. 2008. PMID: 18792983

8

Novel PORCN mutations in focal dermal hypoplasia.

Froyen G, Govaerts K, Van Esch H, Verbeeck J, Tuomi ML, Heikkilä H, Torniainen S, Devriendt K, Fryns JP, Marynen P, Järvelä I, Ala-Mello S. Froyen G, et al. Clin Genet. 2009 Dec;76(6):535-43. doi: 10.1111/j.1399-0004.2009.01248.x. Epub 2009 Oct 23. Clin Genet. 2009. PMID: 19863546

9

Nephronophthisis and ulcerative colitis in siblings: a new association.

Ala-Mello S, Kääriäinen H, Koskimies O. Ala-Mello S, et al. Pediatr Nephrol. 2001 Jun;16(6):507-9. doi: 10.1007/s004670100597. Pediatr Nephrol. 2001. PMID: 11420917

10

[Nephronophthisis--hereditary progressive renal disease].

Ala-Mello S, Koskimies O, Kääriäinen H. Ala-Mello S, et al. Duodecim. 1995;111(13):1222-7. Duodecim. 1995. PMID: 9221230 Finnish. No abstract available.

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