Works matching AU Keski‐Filppula, Riikka

Results: 11

Homozygous TAF1C variants are associated with a novel childhood‐onset neurological phenotype.

Published in:

Clinical Genetics, 2020, v. 98, n. 5, p. 493, doi. 10.1111/cge.13827

By:

Knuutinen, Oula;
Pyle, Angela;
Suo‐Palosaari, Maria;
Duff, Jennifer;
Froukh, Tawfiq;
Lehesjoki, Anna‐Elina;
Kangas, Salla M.;
Cassidy, James;
Maraqa, Latifa;
Keski‐Filppula, Riikka;
Kokkonen, Hannaleena;
Uusimaa, Johanna;
Horvath, Rita;
Vieira, Päivi

Publication type:

Article

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 135, doi. 10.1002/ajmg.a.63004

By:

Maia, Nuno;
Ibarluzea, Nekane;
Misra‐Isrie, Mala;
Koboldt, Daniel C.;
Marques, Isabel;
Soares, Gabriela;
Santos, Rosário;
Marcelis, Carlo L. M.;
Keski‐Filppula, Riikka;
Guitart, Miriam;
Gabau Vila, Elisabeth;
Lehman, April;
Hickey, Scott;
Mori, Mari;
Terhal, Paulien;
Valenzuela, Irene;
Lasa‐Aranzasti, Amaia;
Cueto‐González, Anna Maria;
Chhouk, Brian H.;
Yeh, Rebecca C.

Publication type:

Article

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2605, doi. 10.1002/ajmg.a.61836

By:

Hakonen, Anna H.;
Lehtonen, Johanna;
Kivirikko, Sirpa;
Keski‐Filppula, Riikka;
Moilanen, Jukka;
Kivisaari, Reetta;
Almusa, Henrikki;
Jakkula, Eveliina;
Saarela, Janna;
Avela, Kristiina;
Aittomäki, Kristiina

Publication type:

Article

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-08262-y

By:

Kurki, Mitja I.;
Saarentaus, Elmo;
Pietiläinen, Olli;
Gormley, Padhraig;
Lal, Dennis;
Kerminen, Sini;
Torniainen-Holm, Minna;
Hämäläinen, Eija;
Rahikkala, Elisa;
Keski-Filppula, Riikka;
Rauhala, Merja;
Korpi-Heikkilä, Satu;
Komulainen-Ebrahim, Jonna;
Helander, Heli;
Vieira, Päivi;
Männikkö, Minna;
Peltonen, Markku;
Havulinna, Aki S.;
Salomaa, Veikko;
Pirinen, Matti

Publication type:

Article

Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 223, doi. 10.1002/jimd.12446

By:

Vieira, Päivi;
Nagy, Irina I.;
Rahikkala, Elisa;
Väisänen, Marja‐Leena;
Latva, Katariina;
Kaunisto, Kari;
Valmari, Pekka;
Keski‐Filppula, Riikka;
Haanpää, Maria K.;
Sidoroff, Virpi;
Miettinen, Päivi J.;
Arkkola, Tuula;
Ojaniemi, Marja;
Nuutinen, Matti;
Uusimaa, Johanna;
Myllynen, Päivi

Publication type:

Article

Familial oligodontia and regional odontodysplasia associated with a PAX9 initiation codon mutation.

Published in:

Clinical Oral Investigations, 2019, v. 23, n. 11, p. 4107, doi. 10.1007/s00784-019-02849-5

By:

Koskinen, Sari;
Keski-Filppula, Riikka;
Alapulli, Heikki;
Nieminen, Pekka;
Anttonen, Vuokko

Publication type:

Article

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 888, doi. 10.1038/ejhg.2013.154

By:

Gardeitchik, Thatjana;
Mohamed, Miski;
Fischer, Björn;
Lammens, Martin;
Lefeber, Dirk;
Lace, Baiba;
Parker, Michael;
Kim, Ki-Joong;
Lim, Bing C;
Häberle, Johannes;
Garavelli, Livia;
Jagadeesh, Sujatha;
Kariminejad, Ariana;
Guerra, Deanna;
Leão, Michel;
Keski-Filppula, Riikka;
Brunner, Han;
Nijtmans, Leo;
van den Heuvel, Bert;
Wevers, Ron

Publication type:

Article

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1837, doi. 10.3390/jcm11071837

By:

Kraatari-Tiri, Minna;
Haanpää, Maria K.;
Willberg, Tytti;
Pohjola, Pia;
Keski-Filppula, Riikka;
Kuismin, Outi;
Moilanen, Jukka S.;
Häkli, Sanna;
Rahikkala, Elisa

Publication type:

Article

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.

Published in:

Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01429-z

By:

Känsäkoski, Johanna;
Vaaralahti, Kirsi;
Vuoristo, Sanna;
Pulli, Kristiina;
Lääperi, Mitja;
Tommiska, Johanna;
Raivio, Taneli;
Fagerholm, Rainer;
Keski-Filppula, Riikka;
Tapani Ebeling;
Valanne, Leena;
Sankila, Eeva-Marja;
Kivirikko, Sirpa;
Casoni, Filippo;
Paolo Giacobini;
Franziska Phan-Hug;
Pitteloud, Nelly;
Tal Buki;
Hirsch, Joel A.;
Tena-Sempere, Manuel

Publication type:

Article

Heterozygous premature termination in zinc-finger domain of Krüppel-like factor 2 gene associates with dysregulated immunity.

Published in:

Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.819929

By:

Pernaa, Nora;
Keskitalo, Salla;
Chowdhury, Iftekhar;
Nissinen, Antti;
Glumoff, Virpi;
Keski-Filppula, Riikka;
Junttila, Juhani;
Eklund, Kari K.;
Santaniemi, Wenny;
Siitonen, Sanna;
Seppänen, Mikko R. J.;
Vähäsalo, Paula;
Varjosalo, Markku;
Åström, Pirjo;
Hautala, Timo

Publication type:

Article

Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.

Published in:

Acta Ophthalmologica (1755375X), 2016, v. 94, n. 1, p. 83, doi. 10.1111/aos.12897

By:

Widgren, Paula;
Hurme, Anri;
Falck, Aura;
Keski ‐ Filppula, Riikka;
Remes, Anne M;
Moilanen, Jukka;
Majamaa, Kari;
Kervinen, Marko;
Uusimaa, Johanna

Publication type:

Article