about
Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutationsLIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious pubertyExome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancersThe combined status of ATM and p53 link tumor development with therapeutic responseDo MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium.Bone mineral density, body composition and bone turnover in patients with congenital hypogonadotropic hypogonadism.Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancerCongenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.Variants on the promoter region of PTEN affect breast cancer progression and patient survival.Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor geneAURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study.Construction and biological activity of a full-length molecular clone of human Torque teno virus (TTV) genotype 6.Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer.PROKR2 mutations in autosomal recessive Kallmann syndrome.A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late-onset hypogonadism.The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes.Hereditary myopathy with early respiratory failure: occurrence in various populations.Breast cancer patients with p53 Pro72 homozygous genotype have a poorer survival.The DNA damage signalling kinase ATM is aberrantly reduced or lost in BRCA1/BRCA2-deficient and ER/PR/ERBB2-triple-negative breast cancer.Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty.Childhood growth in boys with congenital hypogonadotropic hypogonadism.De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.Genetics of congenital hypogonadotropic hypogonadism in Denmark.Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B.Childhood growth of females with Kallmann syndrome and FGFR1 mutations.Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.LIN28B in constitutional delay of growth and puberty.The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty.Evaluation ofRAD50 in familial breast cancer predispositionNQO1 expression correlates inversely with NFκB activation in human breast cancerGonadotropin-releasing hormone receptor mutations in ageing menMutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadismIsolated cryptorchidism: No evidence for involvement of genes underlying isolated hypogonadotropic hypogonadismNeuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism
P50
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
@en
հետազոտող
@hy
name
Johanna Tommiska
@ast
Johanna Tommiska
@en
Johanna Tommiska
@es
Johanna Tommiska
@fr
Johanna Tommiska
@nl
Johanna Tommiska
@sl
type
label
Johanna Tommiska
@ast
Johanna Tommiska
@en
Johanna Tommiska
@es
Johanna Tommiska
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Johanna Tommiska
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Johanna Tommiska
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altLabel
Tommiska J
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prefLabel
Johanna Tommiska
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Johanna Tommiska
@en
Johanna Tommiska
@es
Johanna Tommiska
@fr
Johanna Tommiska
@nl
Johanna Tommiska
@sl
P106
P21
P31
P496
0000-0001-7958-8262