Works matching AU Lähdetie, Jaana

Results: 14

Does the absence or presence of sleep spindles on EEG have prognostic value for cognitive outcome in children with infantile epileptic spasms syndrome? A systematic literature review.

Published in:

Epileptic Disorders, 2024, v. 26, n. 1, p. 60, doi. 10.1002/epd2.20192

By:

Lähdetie, Jaana;
Muñoz‐Ruiz, Miguel;
Kokki, Hannu

Publication type:

Article

Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome.

Published in:

2021

By:

Arvio, Maria;
Haanpää, Maria;
Pohjola, Pia;
Lähdetie, Jaana

Publication type:

Case Study

Mosaic trisomy 15 found at amniocentesis.

Published in:

Prenatal Diagnosis, 1992, v. 12, n. 6, p. 551, doi. 10.1002/pd.1970120617

By:

Lähdetie, Jaana;
Lakkala, Taina

Publication type:

Article

Fragmentation of centromeric DNA and prevention of homologous chromosome separation in male mouse meiosis in vivo by the topoisomerase II inhibitor etoposide.

Published in:

Mutagenesis, 1996, v. 11, n. 5, p. 435, doi. 10.1093/mutage/11.5.435

By:

Kallio, Marko;
Lähdetie, Jaana

Publication type:

Article

Micronuclei are induced in rat spermatids in vitro by 1,2,3,4-diepoxybutane but not by 1,2-epoxy-3-butene and 1,2-dihydroxy-3,4-epoxybutane.

Published in:

Mutagenesis, 1996, v. 11, n. 5, p. 525, doi. 10.1093/mutage/11.5.525

By:

Sjöblom, Tiina;
Lähdetie, Jaana

Publication type:

Article

Natural history of alpha‐thalassemia X‐linked intellectual disability syndrome: A case report of a 45‐year‐old man.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2164, doi. 10.1002/ajmg.a.62213

By:

Arvio, Maria;
Lähdetie, Jaana

Publication type:

Article

Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2671, doi. 10.1002/ajmg.a.61802

By:

Arvio, Maria;
Lähdetie, Jaana

Publication type:

Article

Two middle‐aged women with the Finnish variant of muscle‐eye‐brain disease (MEB).

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2481, doi. 10.1002/ajmg.a.61369

By:

Arvio, Maria;
Määttänen, Laura;
Haanpää, Maria;
Lähdetie, Jaana

Publication type:

Article

Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).

Published in:

1999

By:

Rapola, Juhani;
Lähdetie, Jaana;
Isosomppi, Juha;
Helminen, Päivi;
Penttinen, Maila;
Järvelä, Irma;
Rapola, J;
Lähdetie, J;
Isosomppi, J;
Helminen, P;
Penttinen, M;
Järvelä, I

Publication type:

journal article

Long CAG repeats in the AR gene are not associated with infertility in Finnish males.

Published in:

Acta Obstetricia et Gynecologica Scandinavica, 2003, v. 82, n. 2, p. 162, doi. 10.1034/j.1600-0412.2003.00068.x

By:

Lund, Annastiina;
Tapanainen, Juha S.;
Lähdetie, Jaana;
Savontaus, Marja-Liisa;
Aittomäki, Kristiina

Publication type:

Article

Y-chromosomal microdeletions among infertile Finnish men.

Published in:

Acta Obstetricia et Gynecologica Scandinavica, 2001, v. 80, n. 7, p. 652, doi. 10.1080/j.1600-0412.2001.800711.x

By:

Aho, Milla;
Härkönen, Kati;
Suikkari, Anne-Maria;
Juvonen, Vesa;
Anttila, Leena;
Lähdetie, Jaana

Publication type:

Article

Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup).

Published in:

2023

By:

Arvio, Maria;
Lähdetie, Jaana;
Koivu, Hannu;
Sohlberg, Antti;
Pekkonen, Eero

Publication type:

Case Study

Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate‐induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 11, p. 2125, doi. 10.1111/epi.14568

By:

Hynynen, Johanna;
Pokka, Tytti;
Komulainen‐Ebrahim, Jonna;
Myllynen, Päivi;
Kärppä, Mikko;
Pylvänen, Laura;
Kälviäinen, Reetta;
Sokka, Arja;
Jyrkilä, Aino;
Lähdetie, Jaana;
Haataja, Leena;
Mäkitalo, Anna;
Ylikotila, Pauli;
Eriksson, Kai;
Haapala, Piia;
Ansakorpi, Hanna;
Hinttala, Reetta;
Vieira, Päivi;
Majamaa, Kari;
Rantala, Heikki

Publication type:

Article

Quantitative<sup>1</sup>HMRS and MRI Volumetry Indicate Neuronal Damage in the Hippocampus of Children with Focal Epilepsy and Infrequent Seizures.

Published in:

Epilepsia (Series 4), 2005, v. 46, n. 5, p. 696, doi. 10.1111/j.1528-1167.2005.30804.x

By:

Varho, Tarja;
Komu, Markku;
Sonninen, Pirkko;
Lähdetie, Jaana;
Holopainen, Irma E.

Publication type:

Article