Johanna Tommiska
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Explore the profile of Johanna Tommiska including associated specialties, affiliations and a list of published articles.
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45
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1861
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Recent Articles
1.
Pulli K, Saarimaki-Vire J, Ahonen P, Liu X, Ibrahim H, Chandra V, et al.
JCI Insight
. 2024 May;
9(10).
PMID: 38775154
MAPK activating death domain (MADD) is a multifunctional protein regulating small GTPases RAB3 and RAB27, MAPK signaling, and cell survival. Polymorphisms in the MADD locus are associated with glycemic traits,...
2.
Helio K, Cicerchia M, Hathaway J, Tommiska J, Huusko J, Saarinen I, et al.
Front Cardiovasc Med
. 2023 Oct;
10:1254272.
PMID: 37795486
Background: Familial dilated cardiomyopathy (DCM) causes heart failure and may lead to heart transplantation. DCM is typically a monogenic disorder with autosomal dominant inheritance. Currently disease-causing variants have been reported...
3.
Helio K, Mayranpaa M, Saarinen I, Ahonen S, Junnila H, Tommiska J, et al.
Front Genet
. 2021 Dec;
12:786705.
PMID: 34899865
Familial dilated cardiomyopathy (DCM) is a monogenic disorder typically inherited in an autosomal dominant pattern. We have identified two Finnish families with familial cardiomyopathy that is not explained by a...
4.
Hathaway J, Helio K, Saarinen I, Tallila J, Seppala E, Tuupanen S, et al.
BMC Cardiovasc Disord
. 2021 Mar;
21(1):126.
PMID: 33673806
Background: Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. The diagnostic yield of genetic testing and corresponding HCM-associated genes have been largely documented by single center studies...
5.
Koskenvuo J, Saarinen I, Ahonen S, Tommiska J, Weckstrom S, Seppala E, et al.
PLoS One
. 2021 Feb;
16(2):e0245681.
PMID: 33534821
Background: Familial dilated cardiomyopathy (DCM) is typically a monogenic disorder with dominant inheritance. Although over 40 genes have been linked to DCM, more than half of the patients undergoing comprehensive...
6.
Messina A, Pulli K, Santini S, Acierno J, Kansakoski J, Cassatella D, et al.
Am J Hum Genet
. 2019 Dec;
106(1):58-70.
PMID: 31883645
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder characterized by infertility and the absence of puberty. Defects in GnRH neuron migration or altered GnRH secretion and/or action lead to...
7.
Tommiska J, Kansakoski J, Skibsbye L, Vaaralahti K, Liu X, Lodge E, et al.
Nat Commun
. 2017 Nov;
8(1):1289.
PMID: 29097701
Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and...
8.
Kansakoski J, Jaaskelainen J, Jaaskelainen T, Tommiska J, Saarinen L, Lehtonen R, et al.
Sci Rep
. 2016 Sep;
6:32819.
PMID: 27609317
Mutations in the X-linked androgen receptor (AR) gene underlie complete androgen insensitivity syndrome (CAIS), the most common cause of 46,XY sex reversal. Molecular genetic diagnosis of CAIS, however, remains uncertain...
9.
Varimo T, Hero M, Laitinen E, Miettinen P, Tommiska J, Kansakoski J, et al.
Pediatr Res
. 2016 Jan;
79(5):705-9.
PMID: 26720605
Background: We describe childhood growth patterns in a series of well-characterized patients with congenital hypogonadotropic hypogonadism (CHH) with special emphasis on genotype-phenotype correlation. Methods: We retrospectively evaluated the growth charts...
10.
Kansakoski J, Raivio T, Juul A, Tommiska J
Pediatr Res
. 2015 Sep;
78(6):709-11.
PMID: 26331766
Background: Idiopathic central precocious puberty (ICPP) results from the premature reactivation of the hypothalamic-pituitary-gonadal axis leading to development of secondary sexual characteristics prior to 8 y in girls or 9...