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Published in International journal of molecular sciences (16.10.2020)
Published in International journal of molecular sciences (16.10.2020)
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Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis
Szczepanek-Parulska, Ewelina, Budny, Bartłomiej, Borowczyk, Martyna, Zawadzka, Katarzyna, Sztromwasser, Paweł, Ruchała, Marek
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Published in Endocrine (01.02.2021)
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NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis
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Published in International journal of molecular sciences (21.03.2022)
Published in International journal of molecular sciences (21.03.2022)
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CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy
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Published in Journal of applied genetics (01.12.2021)
Published in Journal of applied genetics (01.12.2021)
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Evaluation of 167 Gene Expression Classifier (GEC) and ThyroSeq v2 Diagnostic Accuracy in the Preoperative Assessment of Indeterminate Thyroid Nodules: Bivariate/HROC Meta-analysis
Borowczyk, Martyna, Szczepanek-Parulska, Ewelina, Olejarz, Michał, Więckowska, Barbara, Verburg, Frederik A., Dębicki, Szymon, Budny, Bartłomiej, Janicka-Jedyńska, Małgorzata, Ziemnicka, Katarzyna, Ruchała, Marek
Published in Endocrine pathology (01.03.2019)
Published in Endocrine pathology (01.03.2019)
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VEGF-C Is a Thyroid Marker of Malignancy Superior to VEGF-A in the Differential Diagnostics of Thyroid Lesions
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Published in PloS one (22.02.2016)
Published in PloS one (22.02.2016)
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[131I]I-MIBG-negative metastases of a recurrent sporadic paraganglioma in a female with achondroplasia
Sawicka-Gutaj, Nadia, Majchrzak-Hernandez, Maria, Czepczyński, Rafał, Sałyga, Alicja, Budny, Bartłomiej, Szczepanek-Parulska, Ewelina, Dziuk, Mirosław, Ruchała, Marek
Published in Endokrynologia Polska (2023)
Published in Endokrynologia Polska (2023)
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Determinants of Visfatin/NAMPT Serum Concentration and its Leukocyte Expression in Hyperthyroidism
Sawicka-Gutaj, Nadia, Zybek-Kocik, Ariadna, Kloska, Michał, Czarnywojtek, Agata, Sowiński, Jerzy, Budny, Bartłomiej, Woliński, Kosma, Ziemnicka, Katarzyna, Mańkowska-Wierzbicka, Dorota, Ruchała, Marek
Published in Hormone and metabolic research (01.09.2018)
Published in Hormone and metabolic research (01.09.2018)
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Nicotinamide phosphoribosyltransferase leukocyte overexpression in Graves’ opthalmopathy
Sawicka-Gutaj, Nadia, Budny, Bartłomiej, Zybek-Kocik, Ariadna, Sowiński, Jerzy, Ziemnicka, Katarzyna, Waligórska-Stachura, Joanna, Ruchała, Marek
Published in Endocrine (01.08.2016)
Published in Endocrine (01.08.2016)
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Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
Kumar, Raman, Corbett, Mark A, Van Bon, Bregje W M, Gardner, Alison, Woenig, Joshua A, Jolly, Lachlan A, Douglas, Evelyn, Friend, Kathryn, Tan, Chuan, Van Esch, Hilde, Holvoet, Maureen, Raynaud, Martine, Field, Michael, Leffler, Melanie, Budny, Bartłomiej, Wisniewska, Marzena, Badura-Stronka, Magdalena, Latos-Bieleńska, Anna, Batanian, Jacqueline, Rosenfeld, Jill A, Basel-Vanagaite, Lina, Jensen, Corinna, Bienek, Melanie, Froyen, Guy, Ullmann, Reinhard, Hu, Hao, Love, Michael I, Haas, Stefan A, Stankiewicz, Pawel, Cheung, Sau Wai, Baxendale, Anne, Nicholl, Jillian, Thompson, Elizabeth M, Haan, Eric, Kalscheuer, Vera M, Gecz, Jozef
Published in Human molecular genetics (20.12.2015)
Published in Human molecular genetics (20.12.2015)
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SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)
Budny, Bartlomiej, Zemojtel, Tomasz, Kaluzna, Malgorzata, Gut, Pawel, Niedziela, Marek, Obara-Moszynska, Monika, Rabska-Pietrzak, Barbara, Karmelita-Katulska, Katarzyna, Stajgis, Marek, Ambroziak, Urszula, Bednarczuk, Tomasz, Wrotkowska, Elzbieta, Bukowska-Olech, Ewelina, Jamsheer, Aleksander, Ruchala, Marek, Ziemnicka, Katarzyna
Published in Frontiers in endocrinology (Lausanne) (16.06.2020)
Published in Frontiers in endocrinology (Lausanne) (16.06.2020)
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Genetic heterogeneity of indeterminate thyroid nodules assessed preoperatively with next-generation sequencing reflects the diversity of the final histopathologic diagnosis
Borowczyk, Martyna, Szczepanek-Parulska, Ewelina, Dębicki, Szymon, Budny, Bartłomiej, Verburg, Frederik A, Filipowicz, Dorota, Wrotkowska, Elżbieta, Janicka-Jedyńska, Małgorzata, Więckowska, Barbara, Gil, Lidia, Ziemnicka, Katarzyna, Ruchała, Marek
Published in Polskie archiwum medycyny wewne̦trznej (29.11.2019)
Published in Polskie archiwum medycyny wewne̦trznej (29.11.2019)
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The Role of Serum C-Reactive Protein Measured by High-Sensitive Method in Thyroid Disease
Czarnywojtek, Agata, Owecki, Maciej, Zgorzalewicz-Stachowiak, Małgorzata, Woliński, Kosma, Szczepanek-Parulska, Ewelina, Budny, Bartłomiej, Florek, Ewa, Waligórska-Stachura, Joanna, Miechowicz, Izabela, Bączyk, Maciej, Sawicka, Nadia, Dhir, Sumit, Ruchała, Marek
Published in Archivum Immunologiae et Therapiae Experimentalis (01.12.2014)
Published in Archivum Immunologiae et Therapiae Experimentalis (01.12.2014)
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Alternative 3' acceptor site in the exon 2 of human PAX8 gene resulting in the expression of unknown mRNA variant found in thyroid hemiagenesis and some types of cancers
Szczepanek-Parulska, Ewelina, Szaflarski, Witold, Piątek, Katarzyna, Budny, Bartłomiej, Jaszczyńska-Nowinka, Karolina, Biczysko, Maciej, Wierzbicki, Tomasz, Skrobisz, Jerzy, Zabel, Maciej, Ruchała, Marek
Published in Acta biochimica Polonica (01.01.2013)
Published in Acta biochimica Polonica (01.01.2013)
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Genomic mapping of pathways in endometrial adenocarcinoma and a gastrointestinal stromal tumor located in Meckel's diverticulum
ENGLERT-GOLON, MONIKA, BUDNY, BARTLOMIEJ, BURCHARDT, BARTOSZ, WROTKOWSKA, ELZBIETA, ZIEMNICKA, KATARZYNA, RUCHAŁA, MAREK, SAJDAK, STEFAN
Published in Oncology letters (01.02.2016)
Published in Oncology letters (01.02.2016)
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CCND1 gene polymorphic variants in patients with differentiated thyroid carcinoma
HRYHOROWICZ, SZYMON, ZIEMNICKA, KATARZYNA, KACZMAREK-RYŚ, MARTA, HOPPE-GOŁĘBIEWSKA, JUSTYNA, PŁAWSKI, ANDRZEJ, SKRZYPCZAK-ZIELIŃSKA, MARZENA, SZKUDLAREK, MAŁGORZATA, GOŁĄB, MONIKA, BUDNY, BARTŁOMIEJ, RUCHAŁA, MAREK, SŁOMSKI, RYSZARD
Published in Oncology letters (01.01.2015)
Published in Oncology letters (01.01.2015)
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Differences in Mutational Profile between Follicular Thyroid Carcinoma and Follicular Thyroid Adenoma Identified Using Next Generation Sequencing
Borowczyk, Martyna, Szczepanek-Parulska, Ewelina, Dębicki, Szymon, Budny, Bartłomiej, Verburg, Frederik A, Filipowicz, Dorota, Więckowska, Barbara, Janicka-Jedyńska, Małgorzata, Gil, Lidia, Ziemnicka, Katarzyna, Ruchała, Marek
Published in International journal of molecular sciences (26.06.2019)
Published in International journal of molecular sciences (26.06.2019)
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A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
BUDNY, Bartlomiej, WEI CHEN, LENZNER, Steffen, LATOS-BIELENSKA, Anna, ROPERS, Hans-Hilger, OMRAN, Heymut, FLIEGAUF, Manfred, TZSCHACH, Andreas, WISNIEWSKA, Marzena, JENSEN, Lar R, RAYNAUD, Martine, SHOICHET, Sarah A, BADURA, Magda
Published in Human genetics (01.09.2006)
Published in Human genetics (01.09.2006)
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