Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Alena, Puchmajerová"'
Autor:
Romana Borská, Blanka Pinková, Kamila Réblová, Hana Bučková, Lenka Kopečková, Jitka Němečková, Alena Puchmajerová, Marcela Malíková, Markéta Hermanová, Lenka Fajkusová
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Abstract Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatologic and extracutaneous involvem
Externí odkaz:
https://doaj.org/article/43bc9ac616384e6fadfac80169ee5993
Autor:
Kamila Réblová, Jitka Němečková, Lenka Kopečková, Hana Bučková, Alena Puchmajerová, Markéta Hermanová, Lenka Fajkusová, Blanka Pinková, Romana Borská, Marcela Malíková
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatologic and extracutaneous involvement, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fae0a7090108842bf0768963a6893a9
http://link.springer.com/article/10.1186/s13023-019-1076-7
http://link.springer.com/article/10.1186/s13023-019-1076-7
Autor:
Sabine Lüttgen, Christina Evers, Hatip Aydin, Anne-Karin Kahlert, Kerstin Kutsche, Stephan Unkelbach, Stephanie Spranger, María Juliana Ballesta-Martínez, Angela Ovens-Raeder, Bernhard Zabel, Florian von Deimling, Alena Puchmajerová, Andreas Hahn, Vanesa López-González, Robin Satanovskij, Karim Kouz, Christina Lissewski, Sheela Nampoothiri, Maja Hempel, Angelika Riess, Diana Mitter, Pablo Villavicencio-Lorini, Adrian Lieb, Ulrike Issa, Martin Zenker, Heide Seidel
Publikováno v:
Genetics in Medicine. 18:1226-1234
Purpose:Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused by germ-line mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6c81685a1a6eb9cbba8314a634d9be5
https://doi.org/10.1038/gim.2016.32
https://doi.org/10.1038/gim.2016.32
Autor:
Alena Puchmajerová, Monika Koudová
Publikováno v:
Klinicka Onkologie. 32
Expanded gene panel testing for hereditary cancer predispositions using massive parallel sequencing can identify heterozygous pathogenic variants of genes that cause autosomal recessive inherited cancer syndromes. There are no clinical guidelines reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::669c746338cb8f317823b0ea712cc207
https://doi.org/10.14735/amko2019s14
https://doi.org/10.14735/amko2019s14
Autor:
Marcela Malíková, Alena Puchmajerová, Jan Geryk, Marketa Havlovicova, Sarka Vejvalkova, Anna Křepelová, Marketa Vlckova, Radka Kremlikova Pourova, N. Ptáková, Aleš Maver, M. Šenkeříková, Martina Simandlova, Milan Macek, Jana Drabova, A. Holubová, Jana Paděrová
Publikováno v:
Clinical Genetics. 90:230-237
Kabuki syndrome (KS) is a dominantly inherited disorder mainly due to de novo pathogenic variation in KMT2D or KDM6A genes. Initially, a representative cohort of 14 Czech cases with clinical features suggestive of KS was analyzed by experienced clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::edac65830553e8ba1642902f75a322fe
https://doi.org/10.1111/cge.12754
https://doi.org/10.1111/cge.12754
Autor:
Miroslav Vaculik, Eva Macháčková, K. Pycha, Martin Kyncl, Ondrej Hrusak, Jan Stary, Karel Svojgr, Petr Smisek, Ales Vicha, Alena Puchmajerová, David Sumerauer, Drahuse Novotna, Kyra Michalova, Roman Kodet, Jan Jencik, Josef Malis
Publikováno v:
European Journal of Medical Genetics. 59:152-157
Fanconi anemia, complementation group D1 with bi-allelic FANCD1 (BRCA2) mutations, is a very rare genetic disorder characterized by early onset of childhood malignancies, including acute leukemia, brain cancer and nephroblastoma. Here, we present a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf2c7fb4e892546c710984c1bfcf2772
https://doi.org/10.1016/j.ejmg.2015.11.013
https://doi.org/10.1016/j.ejmg.2015.11.013
Autor:
Jarmila Kruseova, Radka Sítková, Jana Indráková, Roman Kodet, Ales Vicha, Alena Puchmajerová, Anna Křepelová, Martin Kyncl, Milan Macek, Karel Svojgr, Ivan Balascak
Publikováno v:
Klinicka onkologie. 29:S78-S82
Hepatoblastoma is an uncommon malignant neoplasm in general, yet, it is the most common liver malignancy in children with the incidence about one per milion children. This type of liver tumor usually occurs before the age of three years. The etiology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c39fa1b5d28a34f3f3286ce9d362545a
https://doi.org/10.14735/amko2016s78
https://doi.org/10.14735/amko2016s78
Autor:
Alena, Puchmajerová, Jannis, Tornikidis, Lubor, Mrňa, Markéta, Havlovicová, Markéta, Vlčková, Jana, Chrudimská, Milan, Macek, Jiří, Hoch
Publikováno v:
Casopis lekaru ceskych. 157(2)
Cancer is the second most common cause of death in our population just after cardiovascular diseases, since each third individual will become affected by it during their lifetime. Breast cancer is the most common malignancy in women. The lifetime cum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7aaf47977903783f358c1f8577ce5f30
https://pubmed.ncbi.nlm.nih.gov/29790359
https://pubmed.ncbi.nlm.nih.gov/29790359
Publikováno v:
American Journal of Medical Genetics Part A. 164:1218-1221
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently. This condition is characterized by facial features similar to Noonan syndrome, reduced grow
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff5ac4608efe8a58abab77dd91625908
https://doi.org/10.1002/ajmg.a.36404
https://doi.org/10.1002/ajmg.a.36404
Autor:
Roman Kodet, Karel Svojgr, Anna Křepelová, Eva Macháčková, Martin Kyncl, Petr Smisek, Alena Puchmajerová, David Sumerauer, Drahuse Novotna, Lenka Foretová
Publikováno v:
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti. 29
Fanconi anemia is a rare autosomal recessive disorder, clinically and genetically heterogeneous, characterized by typical clinical features, such as short stature, microcephaly, skeletal abnormalities, abnormal skin pigmentations, developmental delay
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c8dffced2b92a340ca84052bdf356b8
https://pubmed.ncbi.nlm.nih.gov/26691948
https://pubmed.ncbi.nlm.nih.gov/26691948