Iwona Pinkier

281/289 Rzgowska Street
Lodz, LD 93338, Poland

Last Updated: 09/26/2026

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Found 12 publications

Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing.

Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing.

Journal: The application of clinical genetics

Published: September 27, 2024

To Test or Not to Test: Routine Thrombophilia Diagnostic Screening of Women with Reproductive Failures.

To Test or Not to Test: Routine Thrombophilia Diagnostic Screening of Women with Reproductive Failures.

Journal: Journal of clinical medicine

Published: October 01, 2023

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.

Journal: Frontiers in endocrinology

Published: January 23, 2023

Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.

Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.

Journal: Genes

Published: July 18, 2022

Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Journal: Genes

Published: May 13, 2022

The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta.

The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta.

Journal: Molecular genetics & genomic medicine

Published: September 28, 2021

A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development.

A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development.

Journal: International journal of environmental research and public health

Published: May 04, 2021

Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal Regions.

Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal Regions.

Journal: Frontiers in genetics

Published: April 09, 2021

Association between idiopathic recurrent pregnancy loss and genetic polymorphisms in cytokine and matrix metalloproteinase genes.

Association between idiopathic recurrent pregnancy loss and genetic polymorphisms in cytokine and matrix metalloproteinase genes.

Journal: Ginekologia polska

Published: January 31, 2021

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.

New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.

Journal: Archives of medical science : AMS

Published: June 27, 2020

Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease.

Identification of gene variants in a cohort of hypogonadotropic hypogonadism: Diagnostic utility of custom NGS panel and WES in unravelling genetic complexity of the disease.

Journal: Molecular and cellular endocrinology

Published: April 05, 2020

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes.

Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes.

Journal: Reproductive biology and endocrinology : RB&E

Published: October 18, 2019

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Last Updated: 09/26/2026