Resistance to Thyroid Hormone in a Boy with a Severe, Complex, Congenital Heart Defect (CHD) Requiring Multiple Cardiac Surgeries—Whether and How to Prepare Child for the Surgery.

Authors: Fedorczak, Anna, Kruk, Beata, Mazurek-Kula, Anna, Kępczyński, Łukasz, Stawerska, Renata

Source: Journal of Clinical Medicine; Feb2025, Vol. 14 Issue 4, p1209, 7p

Subject Terms: THYROID hormone receptors, CONGENITAL heart disease, HORMONE receptors, THYROID hormones, CARDIAC surgery

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

Authors: Kałużewski, Tadeusz, Pinkier, Iwona, Wysocka, Urszula, Sałamunia, Jordan, Kępczyński, Łukasz, Piotrowicz, Małgorzata, Kałużewski, Bogdan, Gach, Agnieszka

Source: Application of Clinical Genetics; Dec2024, Vol. 17, p205-214, 10p

Subject Terms: X-linked genetic disorders, ANDROGEN-insensitivity syndrome, ANDROGEN receptors, SEX differentiation disorders, GENETIC counseling

Acral peeling skin syndrome.

Authors: Gierach, Daria¹ daria.gierach@wp.pl, Kępczyński, Łukasz², Żebrowska, Agnieszka¹

Source: Dermatology Review / Przeglad Dermatologiczny. 2023, Vol. 110 Issue 4, p567-573. 7p.

Subject Terms: *TRANSGLUTAMINASES, *GENETIC mutation, *SKIN diseases

Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy.

Authors: Fałek, Olga, Wesół-Kucharska, Dorota, Starostecka, Ewa, Rokicki, Dariusz, Fortecka-Piestrzeniewicz, Katarzyna, Kępczyński, Łukasz, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Maroszyńska, Iwona

Source: Genes; Oct2024, Vol. 15 Issue 10, p1-8, 8p, 1 Diagram, 1 Chart

The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder.

Authors: Kucińska, Agata, Hawuła, Wanda, Rutkowska, Lena, Wysocka, Urszula, Kępczyński, Łukasz, Piotrowicz, Małgorzata, Chilarska, Tatiana, Wieczorek-Cichecka, Nina, Połatyńska, Katarzyna, Przysło, Łukasz, Gach, Agnieszka

Source: Brain Sciences (2076-3425); Mar2024, Vol. 14 Issue 3, p273, 15p

Subject Terms: CHILDREN with autism spectrum disorders, COMMUNICATIVE disorders, AUTISM spectrum disorders, COMPARATIVE genomic hybridization, DNA copy number variations

Severe multi-organ trauma complicated with SARS-CoV-2 infection in Polish child trauma signs obscuring coronaviral infection.

Authors: Połatyńska, Katarzyna¹ katarzyna.polatynska@iczmp.edu.pl, Kępczyński, Łukasz², Jankowska, Marta¹, Pokorska, Magdalena³, Grzelak, Piotr⁴, Przysło, Łukasz¹

Source: Pediatric Anesthesia & Critical Care Journal (PACCJ). 2020, Vol. 8 Issue 2, p129-132. 4p.

Subject Terms: *SARS-CoV-2, *PNEUMONIA in children, *PEDIATRIC emergencies

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

Authors: Wysocka, Urszula, Sałacińska, Kinga, Pinkier, Iwona, Kępczyński, Łukasz, Ałaszewski, Wojciech, Dudarewicz, Lech, Gach, Agnieszka

Source: Journal of Clinical Medicine; Dec2023, Vol. 12 Issue 24, p7527, 9p

Subject Terms: RECURRENT miscarriage, ROUTINE diagnostic tests, SINGLE nucleotide polymorphisms, FETAL death, MEDICAL screening

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions

Authors: Hijazi, Hadia, Reis, Linda M., Pehlivan, Davut, Bernstein, Jonathan A., Muriello, Michael, Syverson, Erin, Bonner, Devon, Estiar, Mehrdad A., Gan-Or, Ziv, Rouleau, Guy A., Lyulcheva, Ekaterina, Greenhalgh, Lynn, Tessarech, Marine, Colin, Estelle, Guichet, Agnès, Bonneau, Dominique, van Jaarsveld, R.H., Lachmeijer, A.M.A., Ruaud, Lyse, Levy, Jonathan, Tabet, Anne-Claude, Ploski, Rafal, Rydzanicz, Małgorzata, Kępczyński, Łukasz, Połatyńska, Katarzyna, Li, Yidan, Fatih, Jawid M., Marafi, Dana, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Bi, Weimin, Gibbs, Richard A., Hobson, Grace M., Hunter, Jill V., Carvalho, Claudia M.B., Posey, Jennifer E., Semina, Elena V., Lupski, James R.

Source: In The American Journal of Human Genetics 1 December 2022 109(12):2270-2282

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

Authors: Sałacińska, Kinga, Pinkier, Iwona, Rutkowska, Lena, Chlebna-Sokół, Danuta, Jakubowska-Pietkiewicz, Elżbieta, Michałus, Izabela, Kępczyński, Łukasz, Salachna, Dominik, Wieczorek-Cichecka, Nina, Piotrowicz, Małgorzata, Chilarska, Tatiana, Jamsheer, Aleksander, Matusik, Paweł, Wilk, Małgorzata, Petriczko, Elżbieta, Giżewska, Maria, Stecewicz, Iwona, Walczak, Mieczysław, Rybak-Krzyszkowska, Magda, Lewiński, Andrzej

Source: Frontiers in Endocrinology; 2023, p01-10, 10p

Subject Terms: OSTEOGENESIS imperfecta, COLLAGEN, GENETIC variation, CONNECTIVE tissues, NUCLEOTIDE sequencing

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.

Authors: Kałużewski, Tadeusz, Kubiak, Izabela, Bednarek, Michał, Sałamunia, Jordan, Kucharska, Dorota, Kępczyński, Łukasz, Stempień, Marek, Kubicki, Tobiasz, Trzciński, Radzisław, Gordon-Sönmez, Zofia, Bartosińska-Dyc, Anna, Gach, Agnieszka, Kałużewski, Bogdan

Source: International Journal of Molecular Sciences; Sep2023, Vol. 24 Issue 17, p13178, 10p

Subject Terms: EARLY detection of cancer, GENETIC counseling, OVARIAN cancer, ENDOMETRIAL cancer, COLORECTAL cancer

Geographic Terms: POLAND

Age of natural menopause onset in BRCA1/2 carriers - systematic review and meta-analysis.

Authors: Kępczyński, Łukasz¹ lukasz.kepczynski@umed.lodz.pl, Połatyńska, Katarzyna², Nykel, Anna¹, Sałamunia, Jordan³, Kałużewski, Tadeusz³, Kużawczyk, Andrzej⁴, Gach, Agnieszka¹

Source: Menopausal Review / Przegląd Menopauzalny. 2020, Vol. 19 Issue 4, p171-173. 3p.

Subject Terms: *META-analysis, *MENOPAUSE

The prevalence of CHEK2 and CYP1B1 mutations/polymorphisms in urinary bladder cancer

Authors: Banaszkiewicz Monika, Constantinou Maria, Pietrusiński Michał, Kępczyński Łukasz, Jędrzejczyk Adam, Rożniecki Marek, Marks Piotr, Kałużewski Bogdan

Source: Hereditary Cancer in Clinical Practice, Vol 10, Iss Suppl 4, p A20 (2012)

Subject Terms: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.hccpjournal.com/content/10/S4/A20; https://doaj.org/toc/1897-4287

Access URL: https://doaj.org/article/f50734d58c774f27b80c5bf15bb7c065

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

Authors: Rutkowska, Lena, Pinkier, Iwona, Sałacińska, Kinga, Kępczyński, Łukasz, Salachna, Dominik, Lewek, Joanna, Banach, Maciej, Matusik, Paweł, Starostecka, Ewa, Lewiński, Andrzej, Płoski, Rafał, Stawiński, Piotr, Gach, Agnieszka

Source: Genes; Aug2022, Vol. 13 Issue 8, p1424-N.PAG, 11p

Subject Terms: FAMILIAL hypercholesterolemia, PANEL analysis, FRAMESHIFT mutation, CHILD patients, SINGLE nucleotide polymorphisms, GENETIC testing

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

Authors: Sałacińska, Kinga, Michałus, Izabela, Pinkier, Iwona, Rutkowska, Lena, Chlebna‐Sokół, Danuta, Jakubowska‐Pietkiewicz, Elżbieta, Kępczyński, Łukasz, Salachna, Dominik, Gach, Agnieszka

Source: Molecular Genetics & Genomic Medicine; Aug2022, Vol. 10 Issue 8, p1-6, 6p

Subject Terms: OSTEOGENESIS imperfecta, CONNECTIVE tissues, GENETIC disorders, GENES, RARE diseases

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

Authors: Rutkowska, Lena, Sałacińska, Kinga, Salachna, Dominik, Matusik, Paweł, Pinkier, Iwona, Kępczyński, Łukasz, Piotrowicz, Małgorzata, Starostecka, Ewa, Lewiński, Andrzej, Gach, Agnieszka

Source: Genes; Jun2022, Vol. 13 Issue 6, p999-999, 17p

Subject Terms: FAMILIAL hypercholesterolemia, CHILD patients, FRAMESHIFT mutation, LDL cholesterol, GENETIC variation, FRAGILE X syndrome

Geographic Terms: POLAND, SAN Diego (Calif.)

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.

Authors: Kucińska, Agata, Hawuła, Wanda, Rutkowska, Lena, Wysocka, Urszula, Kępczyński, Łukasz, Piotrowicz, Małgorzata, Chilarska, Tatiana, Wieczorek-Cichecka, Nina, Połatyńska, Katarzyna, Przysło, Łukasz, Gach, Agnieszka

Source: Brain Sciences (2076-3425); Jun2024, Vol. 14 Issue 6, p529, 2p

Subject Terms: CHILDREN with autism spectrum disorders

No evidence for change in expression of TBC1D1 and TBC1D4 genes in cultured human adipocytes stimulated by myokines and adipokines.

Authors: Kępczyński, Łukasz^1,2 (AUTHOR) lukasz.kepczynski@umed.lodz.pl, Wcisło, Szymon³ (AUTHOR), Korzeniewska-Dyl, Irmina² (AUTHOR), Połatyńska, Katarzyna⁴ (AUTHOR), Gach, Agnieszka¹ (AUTHOR), Moczulski, Dariusz² (AUTHOR)

Source: Adipocyte. Dec 2021, Vol. 10 Issue 1, p153-159. 7p.

Subject Terms: *ADIPOKINES, *FAT cells, *HUMAN genes, *IRISIN, *RESISTIN, *ADIPOGENESIS, *INSULIN, *MYOKINES

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.

Authors: Sałacińska, Kinga, Pinkier, Iwona, Rutkowska, Lena, Chlebna-Sokół, Danuta, Jakubowska-Pietkiewicz, Elżbieta, Michałus, Izabela, Kępczyński, Łukasz, Salachna, Dominik, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Jaszczuk, Ilona, Jakubowski, Lucjusz, Gach, Agnieszka

Source: Frontiers in Genetics; 7/9/2021, Vol. 12, p1-14, 14p

Subject Terms: OSTEOGENESIS imperfecta, COLLAGEN, LETHAL mutations, PHENOTYPES, GLYCINE

Stiff-person syndrome with sensorimotor polyneuropathy - case report.

Alternate Title: Zespół sztywnego człowieka z polineuropatią czuciowo-ruchową - przypadek kliniczny. (Polish)

Authors: Jastrzębski, Karol, Romanowska, Nina, Rek-Pacześ, Marta, Kępczyński, Łukasz, Plucińska, Agnieszka, Gałecka-Kowalska, Monika, Pacześ, Krzysztof

Source: Current Neurology / Aktualno?ci Neurologiczne; 2021, Vol. 21 Issue 1, p47-55, 9p

Subject Terms: STIFF-person syndrome, POLYNEUROPATHIES, GLUTAMATE decarboxylase, DIAGNOSIS

This result is not displayed to guests.
Login for full access.