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List of works by Agnieszka Gach

"Apple does not fall far from the tree" - subclinical atherosclerosis in children with familial hypercholesterolemia

scientific article published on 14 July 2020

Assessment of insulin sensitivity in adults with permanent neonatal diabetes mellitus due to mutations in the KCNJ11 gene encoding Kir6.2.

scientific article published on 10 May 2006

Association of Maternal and Fetal Single-Nucleotide Polymorphisms in Metalloproteinase (MMP1, MMP2, MMP3, and MMP9) Genes with Preeclampsia.

scientific article

Broad phenotypic spectrum of germline 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia

scientific article published on 02 November 2020

Canonical, Non-Canonical and Atypical Pathways of Nuclear Factor кb Activation in Preeclampsia

scientific article published on 04 August 2020

Chip-Based Digital PCR Approach Provides A Sensitive and Cost-Effective Single-Day Screening Tool for Common Fetal Aneuploidies-A Proof of Concept Study ⬇️

scientific article published on 04 November 2019

Complex cardiovascular defects in a male infant with Williams syndrome juxtaposed with results of a preliminary survey illustrating other patients' experiences

scientific article published on 07 January 2021

Diabetic retinopathy in permanent neonatal diabetes due to Kir6.2 gene mutations: the results of a minimum 2-year follow-up after the transfer from insulin to sulphonylurea.

scientific article

Double hit of NEMO gene in preeclampsia

scientific article

Efficacy and safety of sulfonylurea use in permanent neonatal diabetes due to KCNJ11 gene mutations: 34-month median follow-up

scientific article published in May 2010

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

scientific article published on 29 January 2020

Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome.

scientific article published in January 2015

Finding NEMO in preeclampsia

scientific article published on 10 November 2015

Folate status, regulatory T cells and MTHFR C677T polymorphism study in allergic children

scientific article published on 08 April 2016

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

scientific article published on 04 August 2020

Islet-specific antibody seroconversion in patients with long duration of permanent neonatal diabetes caused by mutations in the KCNJ11 gene

article

Neonatal diabetes in a child positive for islet cell antibodies at onset and Kir6.2 activating mutation

scientific article published on 18 August 2009

Permanent neonatal diabetes with known genetic background: oral drugs in treatment of childhood diabetes

scientific article published in January 2008

Placental Expression of NEMO Protein in Normal Pregnancy and Preeclampsia

scientific article published on 02 January 2019

Selective loss of fine tuning of Gq/11 signaling by RGS2 protein exacerbates cardiomyocyte hypertrophy

scientific article published on 26 December 2005

Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.

scientific article published in November 2007

The cross-reactivity of anti-asparaginase antibodies against different L-asparaginase preparations

scientific article published on 30 January 2009

The first case report of sulfonylurea use in a woman with permanent neonatal diabetes mellitus due to KCNJ11 mutation during a high-risk pregnancy.

scientific article published on 13 May 2010

The level of extracellular superoxide dismutase in the first week of life in very and extremely low birth weight infants and the risk of developing bronchopulmonary dysplasia

scientific article published on 01 August 2019

Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: evidence for improvement in insulin sensitivity

scientific article published on 01 January 2007

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