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Items: 39

1.

Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.

Revencu N, Boon LM, Dompmartin A, Rieu P, Busch WL, Dubois J, Forzano F, van Hagen JM, Halbach S, Kuechler A, Lachmeijer AM, Lähde J, Russell L, Simola KO, Mulliken JB, Vikkula M.

Mol Syndromol. 2013 Apr;4(4):173-8. doi: 10.1159/000349919. Epub 2013 Apr 11.

2.

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.

Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, Hämäläinen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A.

Am J Hum Genet. 2011 May 13;88(5):635-42. doi: 10.1016/j.ajhg.2011.04.006. Epub 2011 May 5.

3.

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR.

Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Erratum in: Eur J Hum Genet. 2010 Aug;18(8):881.

4.

Suggestive evidence for a new locus for epilepsy with heterogeneous phenotypes on chromosome 17q.

Sirén A, Polvi A, Chahine L, Labuda M, Bourgoin S, Anttonen AK, Kousi M, Hirvonen K, Simola KO, Andermann E, Laiho A, Soini J, Koivikko M, Laaksonen R, Pandolfo M, Lehesjoki AE.

Epilepsy Res. 2010 Jan;88(1):65-75. doi: 10.1016/j.eplepsyres.2009.09.022. Epub 2009 Nov 14.

PMID:
19914042
5.

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.

Bruce S, Hannula-Jouppi K, Puoskari M, Fransson I, Simola KO, Lipsanen-Nyman M, Kere J.

J Med Genet. 2010 Dec;47(12):816-22. doi: 10.1136/jmg.2009.069427. Epub 2009 Sep 14.

PMID:
19752157
6.

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW.

J Med Genet. 2010 Jan;47(1):30-7. doi: 10.1136/jmg.2009.068395. Epub 2009 Jul 1.

PMID:
19574259
7.

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW.

Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ddn116. Epub 2008 Apr 14.

PMID:
18411254
8.

Pitt-Hopkins syndrome in two patients and further definition of the phenotype.

Peippo MM, Simola KO, Valanne LK, Larsen AT, Kähkönen M, Auranen MP, Ignatius J.

Clin Dysmorphol. 2006 Apr;15(2):47-54.

PMID:
16531728
9.

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.

Botzenhart EM, Green A, Ilyina H, König R, Lowry RB, Lo IF, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KO, Rösler B, Kohlhase J.

Hum Mutat. 2005 Sep;26(3):282.

PMID:
16088922
10.

[NARP syndrome--a less known mitochondrial disease].

Kuusisto H, Simola KO, Keränen T.

Duodecim. 2003;119(16):1563-6. Finnish. No abstract available.

PMID:
14535029
11.

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

Kleijer WJ, Garritsen VH, Linnebank M, Mooyer P, Huijmans JG, Mustonen A, Simola KO, Arslan-Kirchner M, Battini R, Briones P, Cardo E, Mandel H, Tschiedel E, Wanders RJ, Koch HG.

J Inherit Metab Dis. 2002 Sep;25(5):399-410.

PMID:
12408190
12.

A novel low-penetrance locus for familial glioma at 15q23-q26.3.

Paunu N, Lahermo P, Onkamo P, Ollikainen V, Rantala I, Helén P, Simola KO, Kere J, Haapasalo H.

Cancer Res. 2002 Jul 1;62(13):3798-802.

13.

Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause.

Hannula K, Lipsanen-Nyman M, Kristo P, Kaitila I, Simola KO, Lenko HL, Tapanainen P, Holmberg C, Kere J.

Pediatrics. 2002 Mar;109(3):441-8.

PMID:
11875139
14.

Analysis of p53 tumor suppressor gene in families with multiple glioma patients.

Paunu N, Syrjäkoski K, Sankila R, Simola KO, Helén P, Niemelä M, Matikainen M, Isola J, Haapasalo H.

J Neurooncol. 2001 Dec;55(3):159-65.

PMID:
11859970
15.

Cancer incidence in families with multiple glioma patients.

Paunu N, Pukkala E, Laippala P, Sankila R, Isola J, Miettinen H, Simola KO, Helén P, Helin H, Haapasalo H.

Int J Cancer. 2002 Feb 20;97(6):819-22.

16.

Chromosome imbalances in familial gliomas detected by comparative genomic hybridization.

Paunu N, Sallinen SL, Karhu R, Miettinen H, Sallinen P, Kononen J, Laippala P, Simola KO, Helén P, Haapasalo H.

Genes Chromosomes Cancer. 2000 Dec;29(4):339-46. Review.

PMID:
11066078
17.

A de novo deletion of chromosome 15(q15.2q21.2) in a dysmorphic, mentally retarded child with congenital scalp defect.

Koivisto PA, Koivisto H, Haapala K, Simola KO.

Clin Dysmorphol. 1999 Apr;8(2):139-41.

PMID:
10319204
18.

Applicability of a checklist for clinical screening of the fragile X syndrome.

Arvio M, Peippo M, Simola KO.

Clin Genet. 1997 Oct;52(4):211-5.

PMID:
9383025
19.

Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1.

Mustonen A, Ploos van Amstel HK, Berger R, Salo MK, Viinikka L, Simola KO.

Prenat Diagn. 1997 Oct;17(10):964-6.

PMID:
9358577
20.

[Serum screening in risk pregnancies--experiences and attitudes of mothers living in Tampere].

Nyberg RH, Tuimala R, Simola KO.

Duodecim. 1997;113(24):2558-63. Finnish. No abstract available.

PMID:
10892163
21.

Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm.

Salo P, Ignatius J, Simola KO, Tahvanainen E, Kääriäinen H.

J Med Genet. 1995 Sep;32(9):711-5. Review.

22.

Usher's syndrome type 3 in Finland.

Pakarinen L, Karjalainen S, Simola KO, Laippala P, Kaitalo H.

Laryngoscope. 1995 Jun;105(6):613-7.

PMID:
7769945
23.

The 48,XXYY syndrome: a case detected by maternal serum alpha-fetoprotein screening.

Nyberg RH, Karhu R, Karikoski R, Simola KO.

Prenat Diagn. 1994 Jul;14(7):644-5.

PMID:
7526370
24.

X-linked laterality sequence in a family with carrier manifestations.

Mikkilä SP, Janas M, Karikoski R, Tarkkila T, Simola KO.

Am J Med Genet. 1994 Feb 15;49(4):435-8.

PMID:
8160739
25.

Reply to the letter from Woods and Smith.

Nyberg RH, Haapala AK, Simola KO.

Clin Genet. 1993 Oct;44(4):224. No abstract available.

PMID:
8123128
26.

[Incidence of Down syndrome and prenatal diagnosis during the years 1984-88 in Finland].

Salonen R, Simola KO, Harjulehto-Mervaala T, Aro T, Saxén L.

Duodecim. 1993;109(8):681-6. Finnish. No abstract available.

PMID:
8062742
27.

A case of human chimerism detected by unbalanced chromosomal translocation.

Nyberg RH, Haapala AK, Simola KO.

Clin Genet. 1992 Nov;42(5):257-9.

PMID:
1344032
28.

Long-range restriction map around 11p13 aniridia locus.

Davis LM, Everest AM, Simola KO, Shows TB.

Somat Cell Mol Genet. 1989 Nov;15(6):605-15.

PMID:
2556802
29.

Coincident maternal meiotic nondisjunction of chromosomes X and 21 without evidence of autosomal asynapsis.

Ikonen RS, Lindlöf M, Janas MO, Simola KO, Millington-Ward A, de la Chapelle A.

Hum Genet. 1989 Oct;83(3):235-8.

PMID:
2571561
30.

Cloning of breakpoints of a chromosome translocation identifies the AN2 locus.

Gessler M, Simola KO, Bruns GA.

Science. 1989 Jun 30;244(4912):1575-8.

PMID:
2544995
31.

Translocation t(13;14) in nine generations with a case of translocation homozygosity.

Eklund A, Simola KO, Ryynänen M.

Clin Genet. 1988 Feb;33(2):83-6.

PMID:
3359671
32.

HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.

Porteous DJ, Bickmore W, Christie S, Boyd PA, Cranston G, Fletcher JM, Gosden JR, Rout D, Seawright A, Simola KO, et al.

Proc Natl Acad Sci U S A. 1987 Aug;84(15):5355-9.

33.
34.

The beta-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus.

Glaser T, Lewis WH, Bruns GA, Watkins PC, Rogler CE, Shows TB, Powers VE, Willard HF, Goguen JM, Simola KO, et al.

Nature. 1986 Jun 26-Jul 2;321(6073):882-7.

PMID:
3014343
35.

[Current methods of chromosome studies].

Simola KO.

Duodecim. 1986;102(20):1545-53. Finnish. No abstract available.

PMID:
3769837
36.

Segregation and fertility analysis in an autosomal reciprocal translocation, t(1;8)(q41;q23.1).

Vauhkonen AE, Sankila EM, Simola KO, de la Chapelle A.

Am J Hum Genet. 1985 May;37(3):533-42.

37.

[Diagnosis of Duchenne's muscular dystrophy using recombinant DNA technics].

Lindlöf M, Ammälä P, Somer H, Somer M, Simola KO, de la Chapelle A.

Duodecim. 1985;101(22):2184-91. Finnish. No abstract available.

PMID:
3000726
38.

Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor.

Simola KO, Knuutila S, Kaitila I, Pirkola A, Pohja P.

Hum Genet. 1983;63(2):158-61.

PMID:
6301974
39.

[X-chromosome-linked mental deficiency and the chromosome marker fra(X)(q28)].

Simola KO, Kähkönen M, Leisti J.

Duodecim. 1982;98(7):526-34. Finnish. No abstract available.

PMID:
6953010

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