Works by Kuismin, Outi

Results: 27

Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1302

By:

Tolonen, Jussi‐Pekka;
Hekkala, Anne;
Kuismin, Outi;
Tuominen, Hannu;
Suo‐Palosaari, Maria;
Tynninen, Olli;
Niinimäki, Riitta

Publication type:

Article

Identification as a Mutation Carrier and Effects on Life According to Experiences of Finnish Male BRCA1/2 Mutation Carriers.

Published in:

Journal of Genetic Counseling, 2018, v. 27, n. 4, p. 874, doi. 10.1007/s10897-017-0209-1

By:

Kajula, Outi;
Kuismin, Outi;
Kyngäs, Helvi

Publication type:

Article

Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology.

Published in:

Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 11, p. 2066, doi. 10.1111/aogs.14248

By:

Uimari, Outi;
Ahtikoski, Anne;
Kämpjärvi, Kati;
Butzow, Ralf;
Järvelä, Ilkka Y.;
Ryynänen, Markku;
Aaltonen, Lauri A.;
Vahteristo, Pia;
Kuismin, Outi

Publication type:

Article

Vitamin C boosts DNA demethylation in TET2 germline mutation carriers.

Published in:

Clinical Epigenetics, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13148-022-01404-6

By:

Taira, Aurora;
Palin, Kimmo;
Kuosmanen, Anna;
Välimäki, Niko;
Kuittinen, Outi;
Kuismin, Outi;
Kaasinen, Eevi;
Rajamäki, Kristiina;
Aaltonen, Lauri A.

Publication type:

Article

ATM c.7570G>C is a high‐risk allele for breast cancer.

Published in:

International Journal of Cancer, 2023, v. 152, n. 3, p. 429, doi. 10.1002/ijc.34305

By:

Kankuri‐Tammilehto, Minna;
Tervasmäki, Anna;
Kraatari‐Tiri, Minna;
Rahikkala, Elisa;
Pylkäs, Katri;
Kuismin, Outi

Publication type:

Article

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans.

Published in:

Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-09198-7

By:

Kaasinen, Eevi;
Kuismin, Outi;
Rajamäki, Kristiina;
Ristolainen, Heikki;
Aavikko, Mervi;
Kondelin, Johanna;
Saarinen, Silva;
Berta, Davide G.;
Katainen, Riku;
Hirvonen, Elina A. M.;
Karhu, Auli;
Taira, Aurora;
Tanskanen, Tomas;
Alkodsi, Amjad;
Taipale, Minna;
Morgunova, Ekaterina;
Franssila, Kaarle;
Lehtonen, Rainer;
Mäkinen, Markus;
Aittomäki, Kristiina

Publication type:

Article

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

Published in:

Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1123327

By:

Tallgren, Antti;
Kager, Leo;
O'Grady, Gina;
Tuominen, Hannu;
Körkkö, Jarmo;
Kuismin, Outi;
Feucht, Martha;
Wilson, Callum;
Behunova, Jana;
England, Eleina;
Kurki, Mitja I.;
Palotie, Aarno;
Hallman, Mikko;
Kaarteenaho, Riitta;
Laccone, Franco;
Boztug, Kaan;
Hinttala, Reetta;
Uusimaa, Johanna

Publication type:

Article

Clinical, radiological and histopathological features of patients with familial pulmonary fibrosis.

Published in:

Respiratory Research, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12931-024-02864-5

By:

Jaula, Hanna;
Mattila, Lauri;
Lappi-Blanco, Elisa;
Salonen, Johanna;
Vähänikkilä, Hannu;
Ahvenjärvi, Lauri;
Moilanen, Jukka S.;
Kuismin, Outi;
Harju, Terttu;
Kaarteenaho, Riitta

Publication type:

Article

Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis.

Published in:

Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00538-9

By:

Nousiainen, Susanna;
Kuismin, Outi;
Reinikka, Siiri;
Manninen, Roosa;
Khamaiseh, Sara;
Kuivalainen, Mari;
Terho, Anna;
Koivurova, Sari;
Niinimäki, Maarit;
Salokas, Kari;
Varjosalo, Markku;
Ahtikoski, Anne;
Bützow, Ralf;
Lindgren, Outi;
Uimari, Outi;
Vahteristo, Pia

Publication type:

Article

Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition.

Published in:

Familial Cancer, 2023, v. 22, n. 3, p. 291, doi. 10.1007/s10689-023-00327-2

By:

Kumpula, Timo A.;
Koivuluoma, Susanna;
Soikkonen, Leila;
Vorimo, Sandra;
Moilanen, Jukka;
Winqvist, Robert;
Mantere, Tuomo;
Kuismin, Outi;
Pylkäs, Katri

Publication type:

Article

Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.

Published in:

Familial Cancer, 2023, v. 22, n. 1, p. 13, doi. 10.1007/s10689-022-00295-z

By:

Koivuluoma, Susanna;
Vorimo, Sandra;
Mattila, Tiina M.;
Tervasmäki, Anna;
Kumpula, Timo;
Kuismin, Outi;
Winqvist, Robert;
Moilanen, Jukka;
Mantere, Tuomo;
Pylkäs, Katri

Publication type:

Article

Tonsillar granuloma associated with hypogammaglobulinemia.

Published in:

Allergy, Asthma & Clinical Immunology, 2020, v. 16, n. 1, p. 1, doi. 10.1186/s13223-020-00441-1

By:

Laajala, Aleksi;
Kuismin, Outi;
Tastula, Mikko;
Tiitto, Leena;
Kauppila, Saila;
Salo, Anna;
Åström, Pirjo;
Nissinen, Antti;
Glumoff, Virpi;
Seppänen, Mikko R. J.;
Hautala, Timo

Publication type:

Article

Next-generation sequencing in a large pedigree segregating visceral artery aneurysms suggests potential role of COL4A1/COL4A2 in disease etiology.

Published in:

Vascular, 2022, v. 30, n. 5, p. 842, doi. 10.1177/17085381211033157

By:

Donner, Iikki;
Sipilä, Lauri J;
Plaketti, Roosa-Maria;
Kuosmanen, Anna;
Forsström, Linda;
Katainen, Riku;
Kuismin, Outi;
Aavikko, Mervi;
Romsi, Pekka;
Kariniemi, Juho;
Aaltonen, Lauri A

Publication type:

Article

Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.

Published in:

Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 708, doi. 10.1002/mdc3.14051

By:

Komulainen‐Ebrahim, Jonna;
Kangas, Salla M.;
López‐Martín, Estrella;
Feyma, Timothy;
Scaglia, Fernando;
Martínez‐Delgado, Beatriz;
Kuismin, Outi;
Suo‐Palosaari, Maria;
Carr, Lucinda;
Hinttala, Reetta;
Kurian, Manju A.;
Uusimaa, Johanna

Publication type:

Article

A nearly fatal primary Epstein-Barr virus infection associated with low NK-cell counts in a patient receiving azathioprine: a case report and review of literature.

Published in:

2019

By:

Honkila, Minna;
Niinimäki, Riitta;
Taskinen, Mervi;
Kuismin, Outi;
Kettunen, Kaisa;
Saarela, Janna;
Turunen, Sami;
Renko, Marjo;
Tapiainen, Terhi

Publication type:

journal article

Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.

Published in:

PLoS Genetics, 2023, v. 19, n. 8, p. 1, doi. 10.1371/journal.pgen.1010889

By:

Kumpula, Timo A.;
Vorimo, Sandra;
Mattila, Taneli T.;
O'Gorman, Luke;
Astuti, Galuh;
Tervasmäki, Anna;
Koivuluoma, Susanna;
Mattila, Tiina M.;
Grip, Mervi;
Winqvist, Robert;
Kuismin, Outi;
Moilanen, Jukka;
Hoischen, Alexander;
Gilissen, Christian;
Mantere, Tuomo;
Pylkäs, Katri

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

Mutation Analysis of Inhibitory Guanine Nucleotide Binding Protein Alpha (GNAI) Loci in Young and Familial Pituitary Adenomas.

Published in:

PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109897

By:

Demir, Hande;
Donner, Iikki;
Kivipelto, Leena;
Kuismin, Outi;
Schalin-Jäntti, Camilla;
De Menis, Ernesto;
Karhu, Auli

Publication type:

Article

Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation.

Published in:

Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01867-1

By:

Lima de Souza, Suiane;
Asano, Takaki;
Glumoff, Virpi;
Keskitalo, Salla;
Pikkarainen, Keela;
Martelius, Timi;
Kaustio, Meri;
Saarela, Janna;
Kuismin, Outi;
Lappi-Blanco, Elisa;
Jartti, Airi;
Yannopoulos, Fredrik;
Tiitto, Leena;
Seppänen, Mikko R. J.;
Boisson, Bertrand;
Casanova, Jean-Laurent;
Varjosalo, Markku;
Hautala, Timo;
Chen, Zhi

Publication type:

Article

Rubella virus-associated granulomas controlled with allogeneic hematopoietic stem cell transplantation.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01756-z

By:

Hautala, Timo;
Perelygina, Ludmila;
Salmenniemi, Urpu;
Seppänen, Mikko R. J.;
Martelin, Eeva;
Lindström, Vesa;
Heiskanen, Jouni;
Harju, Terttu;
Jartti, Airi;
Jackson, Päivi;
Tasanen, Kaisa;
Kuismin, Outi;
Tuominen, Hannu;
Sullivan, Kathleen E.;
Bryceson, Yenan

Publication type:

Article

Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 3, p. 1, doi. 10.1007/s10875-024-01685-x

By:

Pernaa, Nora;
Vakkuri, Anni;
Arvonen, Miika;
Kuismin, Outi;
Santaniemi, Wenny;
Glumoff, Virpi;
Lappi-Blanco, Elisa;
Lantto, Ulla;
Okkonen, Marjo;
Kaikkonen, Kari;
Junttila, Juhani;
Kerkelä, Risto;
Åström, Pirjo;
Hautala, Timo

Publication type:

Article

Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis.

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 5, p. 1007, doi. 10.1007/s10875-023-01461-3

By:

Santaniemi, Wenny;
Åström, Pirjo;
Glumoff, Virpi;
Pernaa, Nora;
Tallgren, Ella-Noora;
Palosaari, Sanna;
Nissinen, Antti;
Kaustio, Meri;
Kuismin, Outi;
Saarela, Janna;
Nurmi, Katariina;
Eklund, Kari K.;
Seppänen, Mikko R. J.;
Hautala, Timo

Publication type:

Article

CD40LG Triplication Associates with Immune Dysregulation and Exhaustion.

Published in:

Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 323, doi. 10.1007/s10875-022-01392-5

By:

Santaniemi, Wenny;
Pernaa, Nora;
Glumoff, Virpi;
Hautala, Timo;
CD40L consortium;
Åström, Pirjo;
Kuismin, Outi

Publication type:

Article

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.

Published in:

Journal of Clinical Immunology, 2020, v. 40, n. 8, p. 1156, doi. 10.1007/s10875-020-00834-2

By:

Partanen, Terhi;
Chen, Jie;
Lehtonen, Johanna;
Kuismin, Outi;
Rusanen, Harri;
Vapalahti, Olli;
Vaheri, Antti;
Anttila, Veli-Jukka;
Bode, Michaela;
Hautala, Nina;
Vuorinen, Tytti;
Glumoff, Virpi;
Kraatari, Minna;
Åström, Pirjo;
Saarela, Janna;
Kauma, Heikki;
Lorenzo, Lazaro;
Casanova, Jean-Laurent;
Zhang, Shen-Ying;
Seppänen, Mikko

Publication type:

Article

A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.

Published in:

Ophthalmic Genetics, 2022, v. 43, n. 2, p. 152, doi. 10.1080/13816810.2022.2045511

By:

Lähteenoja, Laura;
Häkli, Sanna;
Tuupanen, Sari;
Kuismin, Outi;
Palosaari, Tapani;
Rahikkala, Elisa;
Falck, Aura

Publication type:

Article

De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.

Published in:

2012

By:

Turan S;
Ignatius J;
Moilanen JS;
Kuismin O;
Stewart H;
Mann NP;
Linglart A;
Bastepe M;
Jüppner H;
Turan, Serap;
Ignatius, Jaakko;
Moilanen, Jukka S;
Kuismin, Outi;
Stewart, Helen;
Mann, Nicholas P;
Linglart, Agnès;
Bastepe, Murat;
Jüppner, Harald

Publication type:

journal article

Thymic neuroendocrine tumors in patients with multiple endocrine neoplasia type 1.

Published in:

Endocrine (1355008X), 2022, v. 77, n. 3, p. 527, doi. 10.1007/s12020-022-03099-4

By:

Yliaska, Iina;
Tokola, Heikki;
Ebeling, Tapani;
Kuismin, Outi;
Ukkola, Olavi;
Koivikko, Minna L.;
Lesonen, Timo;
Rimpiläinen, Jussi;
Felin, Tuuli;
Ryhänen, Eeva;
Metso, Saara;
Schalin-Jäntti, Camilla;
Salmela, Pasi

Publication type:

Article