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22 results for Kępczyński,+Łukasz

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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
Author / Creator:Fedorczak, Anna ; Kruk, Beata ; Mazurek-Kula, Anna ; Kępczyński, Łukasz ; Stawerska, Renata
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2025-02, Vol.14 (4), p.1209
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To Test or Not to Test: Routine Thrombophilia Diagnostic Screening of Women with Reproductive Failures
Author / Creator:Wysocka, Urszula ; Sałacińska, Kinga ; Pinkier, Iwona ; Kępczyński, Łukasz ; Ałaszewski, Wojciech ; Dudarewicz, Lech ; Gach, Agnieszka
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2023-12, Vol.12 (24), p.7527
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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 Couns...
Author / Creator: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
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2023-09, Vol.24 (17), p.13178
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The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder
Author / Creator:Kucińska, Agata ; Hawuła, Wanda ; Rutkowska, Lena ; Wysocka, Urszula ; Kępczyński, Łukasz ; Piotrowicz, Małgorzata ; Chilarska, Tatiana ; Wieczorek-Cichecka, Nina ; Połatyńska, Katarzyna ; Przysło, Łukasz ; Gach, Agnieszka
Publisher:Switzerland: MDPI AG
Journal title:Brain sciences, 2024-03, Vol.14 (3), p.273
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Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients
Author / Creator: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
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-08, Vol.13 (8), p.1424
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Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing
Author / Creator:Kałużewski, Tadeusz ; Pinkier, Iwona ; Wysocka, Urszula ; Sałamunia, Jordan ; Kępczyński, Łukasz ; Piotrowicz, Małgorzata ; Kałużewski, Bogdan ; Gach, Agnieszka
Publisher:New Zealand: Dove Medical Press Limited
Journal title:Application of clinical genetics, 2024-12, Vol.17, p.205-214
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Age of natural menopause onset in BRCA1/2 carriers - systematic review and meta-analysis
Author / Creator:Kępczyński, Łukasz ; Połatyńska, Katarzyna ; Nykel, Anna ; Sałamunia, Jordan ; Kałużewski, Tadeusz ; Kużawczyk, Andrzej ; Gach, Agnieszka
Publisher:Poland: Termedia Publishing House
Journal title:Przegla̜d menopauzalny, 2020-12, Vol.19 (4), p.171-173
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Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel
Author / Creator:Rutkowska, Lena ; Sałacińska, Kinga ; Salachna, Dominik ; Matusik, Paweł ; Pinkier, Iwona ; Kępczyński, Łukasz ; Piotrowicz, Małgorzata ; Starostecka, Ewa ; Lewiński, Andrzej ; Gach, Agnieszka
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-06, Vol.13 (6), p.999
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The first glycine‐to‐tryptophan substitution in the COL1A1 gene identified in a patient with progressively‐deforming Osteogenesis imperfecta
Author / Creator:Sałacińska, Kinga ; Michałus, Izabela ; Pinkier, Iwona ; Rutkowska, Lena ; Chlebna‐Sokół, Danuta ; Jakubowska‐Pietkiewicz, Elżbieta ; Kępczyński, Łukasz ; Salachna, Dominik ; Gach, Agnieszka
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2022-08, Vol.10 (8), p.e1996-n/a
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ArticlesPeer ReviewedFull Text
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
Author / Creator:Kucińska, Agata ; Hawuła, Wanda ; Rutkowska, Lena ; Wysocka, Urszula ; Kępczyński, Łukasz ; Piotrowicz, Małgorzata ; Chilarska, Tatiana ; Wieczorek-Cichecka, Nina ; Połatyńska, Katarzyna ; Przysło, Łukasz ; Gach, Agnieszka
Publisher:Switzerland: MDPI AG
Journal title:Brain sciences, 2024-05, Vol.14 (6), p.529
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ArticlesPeer ReviewedFull Text
Stiff-person syndrome with sensorimotor polyneuropathy – case report
Author / Creator:Jastrzębski, Karol ; Romanowska, Nina ; Rek-Pacześ, Marta ; Kępczyński, Łukasz ; Plucińska, Agnieszka ; Gałecka-Kowalska, Monika ; Pacześ, Krzysztof
Publisher:Warsaw: Medical Communications Sp. z o.o
Journal title:Aktualności neurologiczne, 2021-01, Vol.21 (1), p.47-55
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Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling
Author / Creator:Hoffman-Zacharska, Dorota ; Mazurczak, Tomasz ; Zajkowski, Tomasz ; Tataj, Renata ; Górka-Skoczylas, Paulina ; Połatyńska, Katarzyna ; Kępczyński, Łukasz ; Stasiołek, Mariusz ; Bal, Jerzy
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of applied genetics, 2016-08, Vol.57 (3), p.349-355
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The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, RB1 and ERBB2...
Author / Creator:Kałużewski, Tadeusz ; Przybylski, Grzegorz K ; Bednarek, Michał ; Glazar, Sławomir ; Grabiec, Magdalena ; Jędrzejczyk, Adam ; Kępczyński, Łukasz ; Kubiak, Izabela ; Kucharska, Dorota ; Morel, Agnieszka ; Owczarek, Magdalena ; Rożniecki, Marek ; Sałamunia, Jordan ; Szewczyk, Dominika ; Szwalski, Jarosław ; Kałużewski, Bogdan
Publisher:Switzerland: MDPI AG
Journal title:Journal of personalized medicine, 2021-04, Vol.11 (5), p.362
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ArticlesPeer ReviewedFull Text
CADASIL caused by stereotyped p.Arg207Cys mutation of NOTCH3 gene
Author / Creator:Jastrzębski, Karol ; Obrembska, Magdalena ; Kępczyński, Łukasz ; Turoboś, Katarzyna ; Sobczyńska-Tomaszewska, Agnieszka ; Miller, Elżbieta ; Głąbiński, Andrzej
Journal title:Aktualności neurologiczne, 2018-05, Vol.18 (1), p.47-51
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Concomitance of oncogenic HPV types, CHEK2 gene mutations, and CYP1B1 gene polymorphism as an increased risk factor for malignancy
Author / Creator:Banaszkiewicz, Monika ; Constantinou, Maria ; Pietrusiński, Michał ; Kępczyński, Lukasz ; Jędrzejczyk, Adam ; Rożniecki, Marek ; Marks, Piotr ; Kałużewski, Bogdan
Publisher:Poland: Polish Urological Association
Journal title:Central European Journal of Urology, 2013, Vol.66 (1), p.23-29
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Evaluation of genomic imbalance in endometrial hyperplasia and carcinoma
Author / Creator:Bednarek, Michal ; Constantinou, Maria ; Kqpczyfiskil, Lukasz ; Shiar Kassassir, Agata ; Sobczuk, Anna ; Wieszczycka, Maria ; Suzin, Jacek ; Kaluzewski, Bogdan
Publisher:Poland: Wydawnictwo Via Medica
Journal title:Ginekologia polska, 2014-01, Vol.85 (11), p.828-832, Article 828
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The prevalence of CHEK2 and CYP1B1 mutations/polymorphisms in urinary bladder cancer
Author / Creator:Banaszkiewicz, Monika ; Constantinou, Maria ; Pietrusiński, Michał ; Kępczyński, Łukasz ; Jędrzejczyk, Adam ; Rożniecki, Marek ; Marks, Piotr ; Kałużewski, Bogdan
Publisher:London: BioMed Central
Journal title:Hereditary cancer in clinical practice, 2012-12, Vol.10 (Suppl 4), p.A20-A20
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Family Occurrence of an m.3303C>T Point Mutation in the MT-TL1 Gene, Which Induces Cardiomyopathy Syndrome with/without Skeletal Muscle Myopathy
Author / Creator:Fałek, Olga ; Wesół-Kucharska, Dorota ; Starostecka, Ewa ; Rokicki, Dariusz ; Fortecka-Piestrzeniewicz, Katarzyna ; Kępczyński, Łukasz ; Piekutowska-Abramczuk, Dorota ; Ciara, Elżbieta ; Maroszyńska, Iwona
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-09, Vol.15 (10), p.1289
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CADASIL spowodowany stereotypową mutacją p.Arg207Cys w genie NOTCH3
Author / Creator:Karol Jastrzębski ; Magdalena Obrembska ; Łukasz Kępczyński ; Katarzyna Turoboś ; Agnieszka Sobczyńska-Tomaszewska ; Elżbieta Miller ; Andrzej Głąbiński
Publisher:Medical Communications Sp. z o.o
Journal title:Aktualności neurologiczne, 2018-05, Vol.18 (1), p.47-51
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ArticlesPeer ReviewedFull Text
CADASIL caused by stereotyped p.Arg207Cys mutation of NOTCH3 gene
Author / Creator:Jastrzębski, Karol ; Obrembska, Magdalena ; Kępczyński, Łukasz ; Turoboś, Katarzyna ; Sobczyńska-Tomaszewska, Agnieszka ; Miller, Elżbieta ; Głąbiński, Andrzej
Publisher:Warsaw: Medical Communications Sp. z o.o
Journal title:Aktualności neurologiczne, 2018-01, Vol.18 (1), p.47
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Showing 1 to 20 of 22 results

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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

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

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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 Couns...

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

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

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

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

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

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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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Stiff-person syndrome with sensorimotor polyneuropathy – case report

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Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling

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The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, RB1 and ERBB2...

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CADASIL caused by stereotyped p.Arg207Cys mutation of NOTCH3 gene

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Concomitance of oncogenic HPV types, CHEK2 gene mutations, and CYP1B1 gene polymorphism as an increased risk factor for malignancy

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Evaluation of genomic imbalance in endometrial hyperplasia and carcinoma

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

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

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CADASIL spowodowany stereotypową mutacją p.Arg207Cys w genie NOTCH3

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CADASIL caused by stereotyped p.Arg207Cys mutation of NOTCH3 gene

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