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Items: 48

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.

Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia.

Honkaniemi J, Kalkkila JP, Koivisto P, Kähärä V, Latvala T, Simola K.

Am J Med Genet A. 2005 Nov 15;139(1):48-9. No abstract available.

PMID:
16222672
10.

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
11.

[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
12.

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
13.

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.

14.

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
15.

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
16.

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.

17.

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
18.

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
19.

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
20.

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
21.

[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
22.

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.

23.

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
24.

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
25.

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
26.

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
27.

Molecular cytogenetic study of patients with Pallister-Killian syndrome.

Larramendy M, Heiskanen M, Wessman M, Ritvanen A, Peltomäki P, Simola K, Kääriäinen H, von Koskull H, Kähkönen M, Knuutila S.

Hum Genet. 1993 Mar;91(2):121-7.

PMID:
8462971
28.

[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
29.

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
30.

[Wagner's disease--a disease of the connective tissue that causes blindness].

Karma A, Paakkala AM, Lähde Y, Simola K.

Duodecim. 1990;106(10):823-8. Finnish. No abstract available.

PMID:
1670298
31.

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
32.

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
33.

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
34.

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
35.

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.

36.
37.

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
38.

[Current methods of chromosome studies].

Simola KO.

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

PMID:
3769837
39.

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.

40.

[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
41.

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
42.

[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
43.

Heteromorphic X chromosomes in 46,XX males?

de la Chapelle A, Simola K, Simola P, Knuutila S, Gahmberg N, Pajunen L, Lundqvist C, Sarna S, Murros J.

Hum Genet. 1979 Nov;52(2):157-67.

PMID:
511171
44.

Incomplete prenatal diagnosis of G-trisomy mosaicism.

Simola K, Aula P, Ryynänen M, Koskull HV.

Clin Genet. 1978 Jun;13(6):500-3.

PMID:
668186
45.

Linkage data on chromosome 11.

de la Chapelle A, Simola K, Karli P, Lindenbaum RH, Robson EB, Cook PJ, Buckton KE.

Cytogenet Cell Genet. 1978;22(1-6):472-3. No abstract available.

PMID:
752524
46.

Two pericentric inversions of human chromosome 11.

Simola K, Karli P, De La Chapelle A.

J Med Genet. 1977 Oct;14(5):371-4.

47.
48.

Molecular basis of chromosome banding. I. The effect of mouse DNA fractions on two fluorescent dyes in vitro.

Simola K, Selander RK, de la Chapelle A, Corneo G, Ginelli E.

Chromosoma. 1975 Jul 21;51(3):199-205.

PMID:
50167

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