Works by Gach, Agnieszka
Results: 45
Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing.
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- Application of Clinical Genetics, 2024, v. 17, p. 205, doi. 10.2147/TACG.S498338
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- Article
Correction: Kucińska et al. The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder. Brain Sci. 2024, 14 , 273.
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- 2024
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- Publication type:
- Correction Notice
The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder.
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- Brain Sciences (2076-3425), 2024, v. 14, n. 3, p. 273, doi. 10.3390/brainsci14030273
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- Article
Complex cardiovascular defects in a male infant with Williams syndrome juxtaposed with the results of a preliminary survey illustrating other patients’ outcomes.
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- Polish Heart Journal / Kardiologia Polska, 2021, v. 79, n. 2, p. 188, doi. 10.33963/KP.15740
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- Article
To Test or Not to Test: Routine Thrombophilia Diagnostic Screening of Women with Reproductive Failures.
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- Journal of Clinical Medicine, 2023, v. 12, n. 24, p. 7527, doi. 10.3390/jcm12247527
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- Article
Amniocentesis in Twin Pregnancies: Risk Factors of Fetal Loss.
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- Journal of Clinical Medicine, 2022, v. 11, n. 7, p. 1937, doi. 10.3390/jcm11071937
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- Article
The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta.
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- 2022
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- Case Study
Familial partial lipodystrophy as differential diagnosis of polycystic ovary syndrome.
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- Polish Journal of Endocrinology / Endokrynologia Polska, 2015, v. 66, n. 6, p. 550, doi. 10.5603/EP.2015.0067
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- Article
The First Case Report of Sulfonylurea Use in a Woman with Permanent Neonatal Diabetes Mellitus due to KCNJ11 Mutation during a High-Risk Pregnancy.
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- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 8, p. 3599, doi. 10.1210/jc.2010-0096
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- Article
Clinical significance of polymorphisms of genes encoding collagen (COL1A1, COL5A1) and their correlation with joint laxity and recurrent patellar dislocation in adolescents.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-49378-6
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- Article
Familial Partial Lipodystrophy—Literature Review and Report of a Novel Variant in PPARG Expanding the Spectrum of Disease-Causing Alterations in FPLD3.
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- Diagnostics (2075-4418), 2022, v. 12, n. 5, p. N.PAG, doi. 10.3390/diagnostics12051122
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- Article
The Influence of Maternal Cell Contamination on Fetal Aneuploidy Detection Using Chip-Based Digital PCR Testing.
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- Diagnostics (2075-4418), 2021, v. 11, n. 9, p. 1607, doi. 10.3390/diagnostics11091607
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- Article
Clinical Validation of Novel Chip-Based Digital PCR Platform for Fetal Aneuploidies Screening.
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- Diagnostics (2075-4418), 2021, v. 11, n. 7, p. 1131, doi. 10.3390/diagnostics11071131
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- Article
Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.
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- Genes, 2022, v. 13, n. 8, p. 1424, doi. 10.3390/genes13081424
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- Article
Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.
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- Genes, 2022, v. 13, n. 6, p. 999, doi. 10.3390/genes13060999
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- Publication type:
- Article
Cytomegalovirus Infection in Pregnancy Prevention and Treatment Options: A Systematic Review and Meta-Analysis.
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- Viruses (1999-4915), 2023, v. 15, n. 11, p. 2142, doi. 10.3390/v15112142
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- Article
Evidence of Anti-Islet Autoimmunity in Patients with Long Duration of Permanent Neonatal Diabetes Caused by Mutations in the KCNJ11 Gene.
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- Diabetes, 2007, v. 56, p. A325
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- Publication type:
- Article
Improvement of Central Nervous System Function with Sulphonylurea Treatment in Permanent Neonatal Diabetes Caused by the Novel H461 Mutation in the KCNJ11 Gene.
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- Diabetes, 2007, v. 56, p. A291
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- Publication type:
- Article
The cross-reactivity of anti-asparaginase antibodies against different l-asparaginase preparations.
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- Clinical & Experimental Medicine, 2009, v. 9, n. 2, p. 113, doi. 10.1007/s10238-008-0026-9
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- Article
A Novel Intronic Splice—Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development.
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- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 13, p. 7186, doi. 10.3390/ijerph18137186
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- Article
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.
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- Journal of Perinatal Medicine, 2019, v. 47, n. 6, p. 671, doi. 10.1515/jpm-2018-0418
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- Publication type:
- Article
Age of natural menopause onset in BRCA1/2 carriers - systematic review and meta-analysis.
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- Menopausal Review / Przegląd Menopauzalny, 2020, v. 19, n. 4, p. 171, doi. 10.5114/pm.2020.101946
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- Article
Prenatal diagnosis of Smith-Lemli-Opitz syndrome based on recognition of fetal ambiguous genitalia in association with congenital heart disease.
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- Prenatal Cardiology, 2023, p. 1, doi. 10.5114/pcard.2023.135889
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- Article
Fetal cardiac tumours in a referral prenatal cardiology centre – series of 37 cases with neonatal follow-up.
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- Prenatal Cardiology, 2019, p. 1, doi. 10.5114/pcard.2019.92399
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- Article
Double hit of NEMO gene in preeclampsia.
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- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0180065
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- Article
Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk—Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 17, p. 13178, doi. 10.3390/ijms241713178
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- Article
The Preeclamptic Environment Promotes the Activation of Transcription Factor Kappa B by P53/RSK1 Complex in a HTR8/SVneo Trophoblastic Cell Line.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10200, doi. 10.3390/ijms221910200
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- Article
Canonical, Non-Canonical and Atypical Pathways of Nuclear Factor кb Activation in Preeclampsia.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 15, p. 5574, doi. 10.3390/ijms21155574
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- Article
Chip-Based Digital PCR Approach Provides A Sensitive and Cost-Effective Single-Day Screening Tool for Common Fetal Aneuploidies—A Proof of Concept Study.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 21, p. 5486, doi. 10.3390/ijms20215486
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- Article
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.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.692978
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- Article
No evidence for change in expression of TBC1D1 and TBC1D4 genes in cultured human adipocytes stimulated by myokines and adipokines.
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- Adipocyte, 2021, v. 10, n. 1, p. 153, doi. 10.1080/21623945.2021.1900497
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- Article
Risk of adverse cardiovascular events based on common genetic variants in 8-year follow-up of the LIPIDOGEN2015 population using the polygenic risk score (PRS): study design and methodology.
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- Archives of Medical Science, 2024, v. 20, n. 5, p. 1452, doi. 10.5114/aoms/192147
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- Article
New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
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- 2022
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- Publication type:
- journal article
Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia.
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- Genes, Chromosomes & Cancer, 2021, v. 60, n. 2, p. 79, doi. 10.1002/gcc.22914
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- Article
Is Nuchal Translucency of 3.0–3.4 mm an Indication for cfDNA Testing or Microarray? – A Multicenter Retrospective Clinical Cohort Study.
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- Fetal Diagnosis & Therapy, 2024, v. 51, n. 5, p. 453, doi. 10.1159/000539463
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- Article
Resistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (THRβ) gene coexisting with autoimmune thyroid disease--A case report.
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- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1051042
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- Article
ZABURZENIA HOMEOSTAZY GLUKOZY JAKO PRZYCZYNA NIEDOBORU URODZENIOWEJ MASY CIAŁA -- UDZIAŁ CZYNNIKÓW GENETYCZNYCH.
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- Przeglad Pediatryczny, 2007, v. 37, n. 3, p. 303
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- Article
CUKRZYCA NOWORODKOWA U DZIECI Z POLSKI CENTRALNEJ -- WYRÓWNANIE URODZENIOWEGO NIEDOBORU MASY CIAŁA PO ZASTOSOWANIU INSULINOTERAPII.
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- Przeglad Pediatryczny, 2007, v. 37, n. 3, p. 263
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- Publication type:
- Article
Cukrzyca noworodkowa o znanym podłożu genetycznym: zastosowanie leków doustnych w terapii cukrzycy u dzieci.
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- Pediatric Endocrinology, Diabetes & Metabolism, 2008, v. 14, n. 1, p. 45
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- Publication type:
- Article
Islet-Specific Antibody Seroconversion in Patients With Long Duration of Permanent Neonatal Diabetes Caused by Mutations in the KCNJ11 Gene.
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- Diabetes Care, 2007, v. 30, n. 8, p. 2080, doi. 10.2337/dc06-2440
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- Publication type:
- Article
Transfer to Sulphonylurea Therapy in Adult Subjects With Permanent Neonatal Diabetes Due to KCNJ1-Activating Mutations.
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- Diabetes Care, 2007, v. 30, n. 1, p. 147, doi. 10.2337/dc06-1628
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- Publication type:
- Article
Chromogranin A demonstrates higher expression in preeclamptic placentas than in normal pregnancy.
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- 2021
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- Publication type:
- journal article
Association between idiopathic recurrent pregnancy loss and genetic polymorphisms in cytokine and matrix metalloproteinase genes.
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- Ginekologia Polska, 2021, v. 92, n. 6, p. 440, doi. 10.5603/GP.a2021.0089
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- Publication type:
- Article
Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes.
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- Reproductive Biology & Endocrinology, 2020, v. 18, n. 1, p. 1, doi. 10.1186/s12958-020-0568-6
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- Article
"Apple does not fall far from the tree" – subclinical atherosclerosis in children with familial hypercholesterolemia.
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- Lipids in Health & Disease, 2020, v. 19, n. 1, p. 1, doi. 10.1186/s12944-020-01335-2
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- Publication type:
- Article