Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Margit Happich"'
Autor:
Paulina Richter‐Pechańska, Joachim B Kunz, Beat Bornhauser, Caroline von Knebel Doeberitz, Tobias Rausch, Büşra Erarslan‐Uysal, Yassen Assenov, Viktoras Frismantas, Blerim Marovca, Sebastian M Waszak, Martin Zimmermann, Julia Seemann, Margit Happich, Martin Stanulla, Martin Schrappe, Gunnar Cario, Gabriele Escherich, Kseniya Bakharevich, Renate Kirschner‐Schwabe, Cornelia Eckert, Martina U Muckenthaler, Jan O Korbel, Jean‐Pierre Bourquin, Andreas E Kulozik
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 12, Pp 1-13 (2018)
Abstract We compared 24 primary pediatric T‐cell acute lymphoblastic leukemias (T‐ALL) collected at the time of initial diagnosis and relapse from 12 patients and 24 matched patient‐derived xenografts (PDXs). DNA methylation profile was preserv
Externí odkaz:
https://doaj.org/article/a41b214baa0c4e7083befa1edbc53289
Autor:
Olaf Sommerburg, Margit Happich, Georg F. Hoffmann, Jürgen G. Okun, Dirk Kohlmüller, Marcus A. Mall, Mirjam Stahl, Susanne Hämmerling, Martina U. Muckenthaler, Gwendolyn Gramer, Andreas E. Kulozik
Publikováno v:
Journal of Cystic Fibrosis. 21:422-433
Background Previous studies suggest that PAP-based CF protocols are suitable for newborn screening (NBS) for cystic fibrosis (CF) when newborns designated as CFSPID should not be detected. However, there are still discussions about the performance of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::601ee693b8774961d995e7c2d5e7870e
https://doi.org/10.1016/j.jcf.2021.10.007
https://doi.org/10.1016/j.jcf.2021.10.007
Autor:
Graham R Serjeant, Beryl E Serjeant, Karlene P Mason, Felicea Gibson, Ruth-Ann Gardner, Lansford Warren, Ian R Hambleton, Swee L Thein, Margit Happich, Andreas E Kulozik
Publikováno v:
Journal of medical screening. 29(4)
Objective To report the diagnostic challenges of newborn screening for abnormal haemoglobins. Setting Cord blood samples from 13 hospitals in southwest Jamaica taken in 2008–2019. Methods Blood spots, collected from the umbilical cord, were analyse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec15bcc37b1840fc1fa109c76f2a5e36
https://pubmed.ncbi.nlm.nih.gov/35934992
https://pubmed.ncbi.nlm.nih.gov/35934992
Publikováno v:
Hemoglobin. 42:294-296
Over the last 43 years, surveys of over 200,000 subjects in Jamaica have identified β-thalassemia (β-thal) mutations. In most, these genes were detected at birth in patients with sickle cell-β-thal and so the prevalence and distribution would not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99e17650b0fa9424f63021d92b4d063a
https://doi.org/10.1080/03630269.2018.1540354
https://doi.org/10.1080/03630269.2018.1540354
Autor:
Renate Kirschner-Schwabe, Büşra Erarslan-Uysal, Margit Happich, Tobias Rausch, Gunnar Cario, Yassen Assenov, Joachim B. Kunz, Gabriele Escherich, Beat Bornhauser, Andreas E. Kulozik, Sebastian M. Waszak, Cornelia Eckert, Martina U. Muckenthaler, Blerim Marovca, Martin Schrappe, Jan O. Korbel, Julia Seemann, Martin Stanulla, Kseniya Bakharevich, Viktoras Frismantas, Caroline Von Knebel Doeberitz, Martin Zimmermann, Jean-Pierre Bourquin, Paulina Richter-Pechanska
Publikováno v:
EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 10, Iss 12, Pp n/a-n/a (2018)
EMBO Molecular Medicine, Vol 10, Iss 12, Pp n/a-n/a (2018)
We compared 24 primary pediatric T‐cell acute lymphoblastic leukemias (T‐ALL) collected at the time of initial diagnosis and relapse from 12 patients and 24 matched patient‐derived xenografts (PDXs). DNA methylation profile was preserved in PDX
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd7257f24e03f064d9310d27b7fa9923
https://pubmed.ncbi.nlm.nih.gov/30389682
https://pubmed.ncbi.nlm.nih.gov/30389682
Autor:
Martina U. Muckenthaler, Manfred Gahr, Margit Happich, Georg F. Hoffmann, Jutta Hammermann, Mirjam Stahl, Dirk Kohlmueller, Martin Lindner, Olaf Sommerburg, Marina Stopsack, Marcus A. Mall, Andreas E. Kulozik
Publikováno v:
Pediatric Pulmonology. 50:655-664
Summary Background Evidence from recent studies suggests that IRT/PAP protocols may be successfully used as a purely biochemical newborn screening (NBS) for cystic fibrosis (CF) that does not require genetic screening. However, the experience with th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9ae8e3c17c0a3d9a73101eab70684dd
https://doi.org/10.1002/ppul.23190
https://doi.org/10.1002/ppul.23190
Autor:
Georg F. Hoffmann, Daniel Hübschmann, Thomas Bruckner, Ansgar Schulz, Laura Tagliaferri, Susanna Esposito, Margit Happich, Carsten Speckmann, Joachim B. Kunz, Andreas E. Kulozik, Martina U. Muckenthaler, Judit Kappe, Juergen G. Okun
The prognosis of children with severe combined immunodeficiency (SCID) depends on a presymptomatic diagnosis and early treatment before complications occur. We established and tested a simplified, practical and economic newborn screening method based
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00c7df39a332a34635dce20df63d28cb
http://hdl.handle.net/11391/1417981
http://hdl.handle.net/11391/1417981
Autor:
Douglas R. Higgs, Chris Fisher, Beryl E. Serjeant, Margit Happich, Andreas E. Kulozik, F. Gibson, Swee Lay Thein, Graham R. Serjeant, Karlene Mason, Barnaby Clark
Publikováno v:
British Journal of Haematology. 172:634-636
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09992bfe4f1a6a721d38e1964ee81e95
https://doi.org/10.1111/bjh.13531
https://doi.org/10.1111/bjh.13531
Autor:
Gabriele Tolle, F. Gibson, Graham R. Serjeant, Andreas E. Kulozik, Ian Hambleton, Margit Happich, Karlene Mason, Beryl E. Serjeant
Publikováno v:
Journal of Community Genetics. 3:13-18
The aim of this study was to examine the accuracy and characteristics of detecting the beta-thalassaemia trait in populations of West African ancestry. School children, aged 16-19 years, in Manchester Parish, Jamaica were screened to detect the genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07948b4452f70c806766b3d303de7dd4
https://doi.org/10.1007/s12687-011-0069-6
https://doi.org/10.1007/s12687-011-0069-6
Autor:
L. Warren, R. Gardner, Douglas R. Higgs, Beryl E. Serjeant, Margit Happich, Ian Hambleton, Graham R. Serjeant, F. Gibson, Chris Fisher, Andreas E. Kulozik, Karlene Mason
Publikováno v:
West Indian Medical Journal.
Objectives To review the history of newborn screening for sickle cell disease with especial reference to Jamaica. Methods A summary was done of the history, the development of associated laboratory technology and the implementation of newborn screeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b00d7bf8d73c1439f61fcc14842a2db
https://doi.org/10.7727/wimj.2015.492
https://doi.org/10.7727/wimj.2015.492