The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Autor: Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)

Abstract Background Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodolo

Externí odkaz: https://doaj.org/article/05376b7ba5d44682bd5521cd615362c4

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

Autor: Joanna Trubicka, Tomasz Żemojtel, Jochen Hecht, Katarzyna Falana, Dorota Piekutowska- Abramczuk, Rafał Płoski, Marta Perek-Polnik, Monika Drogosiewicz, Wiesława Grajkowska, Elżbieta Ciara, Elżbieta Moszczyńska, Bożenna Dembowska-Bagińska, Danuta Perek, Krystyna H. Chrzanowska, Małgorzata Krajewska-Walasek, Maria Łastowska

Publikováno v: BMC Cancer, Vol 17, Iss 1, Pp 1-11 (2017)

Abstract Background The defects in DNA repair genes are potentially linked to development and response to therapy in medulloblastoma. Therefore the purpose of this study was to establish the spectrum and frequency of germline variants in selected DNA

Externí odkaz: https://doaj.org/article/a96162f4796c4a65bf39ef853fbba71b

Immortalization of T-Cells Is Accompanied by Gradual Changes in CpG Methylation Resulting in a Profile Resembling a Subset of T-Cell Leukemias

Autor: Sofie Degerman, Mattias Landfors, Jan Konrad Siwicki, John Revie, Magnus Borssén, Emma Evelönn, Erik Forestier, Krystyna H. Chrzanowska, Patrik Rydén, W. Nicol Keith, Göran Roos

Publikováno v: Neoplasia: An International Journal for Oncology Research, Vol 16, Iss 7, Pp 606-615 (2014)

We have previously described gene expression changes during spontaneous immortalization of T-cells, thereby identifying cellular processes important for cell growth crisis escape and unlimited proliferation. Here, we analyze the same model to investi

Externí odkaz: https://doaj.org/article/45a9461da5ed43f1b09b8e7969e6aabe

DNA methylation as an epigenetic biomarker in imprinting disorders

Autor: Krystyna H. Chrzanowska, Elżbieta Ciara, Dorota Jurkiewicz, Małgorzata Krajewska-Walasek

Publikováno v: Postępy Higieny i Medycyny Doświadczalnej, Vol 74, Pp 532-540 (2020)

Epigenetic modifications control gene expression and enable the same genotype to lead to various phenotypes, thus exhibiting extensive variability in human cells function. DNA methylation is one of the most often investigated epigenetic modifications

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c20ce267530a06e9e8c4c5904aa4815e
https://doi.org/10.5604/01.3001.0014.5687

The ARID1B spectrum in 143 patients

Autor: Catherine Vincent-Delorme, Claudia A. L. Ruivenkamp, Marjan De Rademaeker, Francisco Martínez, Tracy Dudding-Byth, Marianne McGuire, Bert B.A. de Vries, Mitsuhiro Kato, Levinus A. Bok, Hülya Kayserili, Jeff M. Milunsky, Suzanne C E H Sallevelt, Alwin F. J. Brouwer, Jill Clayton-Smith, Emilia K. Bijlsma, Miranda Splitt, Patricia G. Wheeler, Philippe M. Campeau, Fatma Mujgan Sonmez, Kylin Lammers, Stefanie Beck-Wödl, Caroline Rooryck, Louise C. Wilson, Evan E. Eichler, Sarina G. Kant, Johanna C. Herkert, Karin R. Heitink, Eyyup Uctepe, Pleuntje J. van der Sluijs, Miho Adachi-Fukuda, Lone W. Laulund, Sandra Jansen, Nicolette S. den Hollander, Damien Lederer, Tomoki Kosho, Constance T. R. M. Stumpel, Saskia M. Maas, Esra Kılıç, Erica H. Gerkes, Duco Steenbeek, Melissa Lees, Kay Metcalfe, Karin Dahan, Ineke van der Burgt, Isabelle Maystadt, Christian Netzer, Ute Grasshoff, Carmen Orellana, Mahmut Şamil Sağıroğlu, Gijs W. E. Santen, Pelin Ozlem Simsek-Kiper, Mónica Roselló, Gabriela Soares, Alexander P.A. Stegmann, Stephen P. Robertson, Adila Al-Kindy, Maian Roifman, Saori Tanabe, Vera Riehmer, Brain H Y Chung, Arie van Haeringen, G. Eda Utine, Yasemin Alanay, Rogier Kersseboom, John B. Moeschler, Barbara Oehl-Jaschkowitz, Katherine Berry, Denise Horn, Alice Gardham, Shane McKee, Anwar Baban, Amparo Sanchis Calvo, Golder N. Wilson, Krystyna H. Chrzanowska, G. M. S. Mancini, Ellen R. Elias, Małgorzata Krajewska-Walasek, Rolph Pfundt, Sarju G. Mehta, Fabienne G. Ropers, Seiji Mizuno, David Hunt, Caroline Pottinger, Dagmar Wieczorek, Yoyo W. Y. Chu, Laurent Pasquier, Bernd Wollnik, Nobuhiko Okamoto, Sunita Venkateswaran, Vanesa López-González, Natalie Canham, Blanca Gener, Anne Destree, Christina Fagerberg, Rachel K. Earl, Sharon N M Olminkhof, Nursel Elcioglu, Charlotte W. Ockeloen, Carlo Marcelis, Samantha A. Vergano, Hermine E. Veenstra-Knol, Anneke T. Vulto-van Silfhout, Allan Bayat, Catheline Vilain, Lucia Solaeche

Publikováno v: Genetics in Medicine, 21(6), 1295-1307. Nature Publishing Group
GENETICS IN MEDICINE
r-FISABIO. Repositorio Institucional de Producción Científica
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Genetics in Medicine
Genetics in Medicine, 21, 6, pp. 1295-1307
Genetics in Medicine, 21(6), 1295-1307. Lippincott Williams & Wilkins
Genetics in medicine, 21(6), 1295-1307. Lippincott Williams and Wilkins
Genetics in Medicine, 21, 1295-1307
Genetics in Medicine, 21(6), 1295-1307. NATURE PUBLISHING GROUP
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Clayton-Smith, J & et al 2018, ' The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome ', Genetics in Medicine . https://doi.org/10.1038/s41436-018-0330-z
van der Sluijs, E P J, Jansen, S, Vergano, S A, Adachi-Fukuda, M, Alanay, Y, AlKindy, A, Baban, A, Bayat, A, Beck-Wödl, S, Berry, K, Bijlsma, E K, Bok, L A, Brouwer, A F J, van der Burgt, I, Campeau, P M, Canham, N, Chrzanowska, K, Chu, Y W Y, Chung, B H Y, Dahan, K, De Rademaeker, M, Destree, A, Dudding-Byth, T, Earl, R, Elcioglu, N, Elias, E R, Fagerberg, C, Gardham, A, Gener, B, Gerkes, E H, Grasshoff, U, van Haeringen, A, Heitink, K R, Herkert, J C, den Hollander, N S, Horn, D, Hunt, D, Kant, S G, Kato, M, Kayserili, H, Kersseboom, R, Kilic, E, Krajewska-Walasek, M, Lammers, K, Laulund, L W, Lederer, D, Lees, M, López-González, V, Maas, S, Mancini, G M S, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M, McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler, J B, Netzer, C, Ockeloen, C W, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, S N M, Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, S P, Roifman, M, Rooryck, C, Ropers, F G, Rosello, M, Ruivenkamp, C A L, Sagiroglu, M S, Sallevelt, S C E H, Sanchis Calvo, A, Simsek-Kiper, P O, Soares, G, Solaeche, L, Sonmez, F M, Splitt, M, Steenbeek, D, Stegmann, A P A, Stumpel, C T R M, Tanabe, S, Uctepe, E, Utine, G E, Veenstra-Knol, H E, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, A T, Wheeler, P, Wilson, G N, Wilson, L C, Wollnik, B, Kosho, T, Wieczorek, D, Eichler, E, Pfundt, R, de Vries, B B A, Clayton-Smith, J & Santen, G W E 2019, ' The ARID1B spectrum in 143 patients : from nonsyndromic intellectual disability to Coffin-Siris syndrome ', Genetics in Medicine, vol. 21, no. 6, pp. 1295-1307 . https://doi.org/10.1038/s41436-018-0330-z
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac9ea944e32257396c0712d9aba32420
https://doi.org/10.1038/s41436-018-0330-z