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List of works by Johanna Tommiska

53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers

scientific article

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late-onset hypogonadism

scientific article published in February 2013

A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty

scientific article

ATM variants and cancer risk in breast cancer patients from Southern Finland

scientific article published on 16 August 2006

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

scientific article published on July 2007

An information-theoretic analysis of genetics, gender and age in cancer patients

scientific article

Bone mineral density, body composition and bone turnover in patients with congenital hypogonadotropic hypogonadism

scientific article

Breast cancer patients with p53 Pro72 homozygous genotype have a poorer survival

scientific article published in July 2005

Childhood growth in boys with congenital hypogonadotropic hypogonadism

scientific article published on 31 December 2015

Childhood growth of females with Kallmann syndrome and FGFR1 mutations

scientific article published on 25 June 2014

Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B.

scientific article published on 9 March 2012

Combined effects of single nucleotide polymorphisms TP53 R72P and MDM2 SNP309, and p53 expression on survival of breast cancer patients

scientific article

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

scientific article published on 09 September 2016

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

scientific article published on 13 November 2014

Construction and biological activity of a full-length molecular clone of human Torque teno virus (TTV) genotype 6.

scientific article published on 22 August 2007

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss

scientific article published on 25 April 2014

Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium

scientific article

Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer

scientific article published on 13 December 2006

Evaluation ofRAD50 in familial breast cancer predisposition

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

scientific article

Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.

scientific article

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia

scientific article published on 8 February 2012

Genetics of congenital hypogonadotropic hypogonadism in Denmark

scientific article published on 13 April 2014

Gonadotropin-releasing hormone receptor mutations in ageing men

scientific article published on 01 July 2015

Hereditary myopathy with early respiratory failure: occurrence in various populations

scientific article

Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer

scientific article published on 15 January 2010

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland

scientific article

Isolated cryptorchidism: No evidence for involvement of genes underlying isolated hypogonadotropic hypogonadism

article

LIN28B in constitutional delay of growth and puberty

scientific article published on 29 March 2010

LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty

scientific article

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism

scientific article published on 12 February 2014

NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer

scientific article published on 30 May 2008

NQO1 expression correlates inversely with NFκB activation in human breast cancer

article published in 2011

Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism

scientific article published on 26 December 2019

No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer

scientific article

PROKR2 mutations in autosomal recessive Kallmann syndrome

scientific article

Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations

scientific article published in 2012

The DNA damage signalling kinase ATM is aberrantly reduced or lost in BRCA1/BRCA2-deficient and ER/PR/ERBB2-triple-negative breast cancer

scientific article published on 5 November 2007

The combined status of ATM and p53 link tumor development with therapeutic response

scientific article

The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty.

scientific article

The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes

scientific article published on 27 September 2006

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

scientific article published on 3 November 2017

Variants on the promoter region of PTEN affect breast cancer progression and patient survival

scientific article published on 15 December 2011

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