Zobrazeno 1 - 10
of 134
pro vyhledávání: '"Sigrid Tinschert"'
Autor:
Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S. Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A. Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, Lynn Pais, Sigrid Tinschert, Nadra Nasser Samra, Juliann M. Savatt, Natasha L. Rudy, Chiara De Luca, Paola Fortugno, Susan M. White, Peter Krawitz, Anna C.E. Hurst, Karsten Niefind, Joachim Jose, Francesco Brancati, Peter Nürnberg, Muhammad Sajid Hussain
Publikováno v:
HGG Advances, Vol 3, Iss 3, Pp 100111- (2022)
Summary: CSNK2B encodes for casein kinase II subunit beta (CK2β), the regulatory subunit of casein kinase II (CK2), which is known to mediate diverse cellular pathways. Variants in this gene have been recently identified as a cause of Poirier-Bienve
Externí odkaz:
https://doaj.org/article/9ab8572fe2874d66a9f70e678cec119a
Publikováno v:
Cells, Vol 12, Iss 4, p 642 (2023)
Congenital microcephaly (CM) exhibits broad clinical and genetic heterogeneity and is thus categorized into several subtypes. However, the recent bloom of disease–gene discoveries has revealed more overlaps than differences in the underlying geneti
Externí odkaz:
https://doaj.org/article/cc84afbdf2fe410497bf3348bb695e26
Publikováno v:
Acta Dermato-Venereologica, Vol 98, Iss 5, Pp 534-535 (2018)
Externí odkaz:
https://doaj.org/article/d52e47b76ec6480e9b664970ab2abdf0
Autor:
Kerstin Becker, Sabine Siegert, Mohammad Reza Toliat, Juanjiangmeng Du, Ramona Casper, Guido H Dolmans, Paul M Werker, Sigrid Tinschert, Andre Franke, Christian Gieger, Konstantin Strauch, Michael Nothnagel, Peter Nürnberg, Hans Christian Hennies, German Dupuytren Study Group
Publikováno v:
PLoS ONE, Vol 11, Iss 7, p e0158101 (2016)
Dupuytren´s disease, a fibromatosis of the connective tissue in the palm, is a common complex disease with a strong genetic component. Up to date nine genetic loci have been found to be associated with the disease. Six of these loci contain genes th
Externí odkaz:
https://doaj.org/article/c4b007a7d833440e9d478cb5f3220c5b
Autor:
Karolina Kobus, Daniela Hartl, Claus Eric Ott, Monika Osswald, Angela Huebner, Maja von der Hagen, Denise Emmerich, Jirko Kühnisch, Hans Morreau, Frederik J Hes, Victor F Mautner, Anja Harder, Sigrid Tinschert, Stefan Mundlos, Mateusz Kolanczyk
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0119030 (2015)
BackgroundNeurofibromatosis type I (NF1, MIM#162200) is a relatively frequent genetic condition, which predisposes to tumor formation. Apart from tumors, individuals with NF1 often exhibit endocrine abnormalities such as precocious puberty (2,5-5% of
Externí odkaz:
https://doaj.org/article/e0dfcdbafa084e828677cdf02a011cd5
Autor:
Jirko Kühnisch, Jong Seto, Claudia Lange, Susanne Schrof, Sabine Stumpp, Karolina Kobus, Julia Grohmann, Nadine Kossler, Peter Varga, Monika Osswald, Denise Emmerich, Sigrid Tinschert, Falk Thielemann, Georg Duda, Wenke Seifert, Thaqif El Khassawna, David A Stevenson, Florent Elefteriou, Uwe Kornak, Kay Raum, Peter Fratzl, Stefan Mundlos, Mateusz Kolanczyk
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e86115 (2014)
Bone fragility due to osteopenia, osteoporosis or debilitating focal skeletal dysplasias is a frequent observation in the Mendelian disease Neurofibromatosis type 1 (NF1). To determine the mechanisms underlying bone fragility in NF1 we analyzed two c
Externí odkaz:
https://doaj.org/article/de9ddbe8b36945668ba2b0011dbb6f5a
Autor:
Tobias Eisenberger, Christine Neuhaus, Arif O Khan, Christian Decker, Markus N Preising, Christoph Friedburg, Anika Bieg, Martin Gliem, Peter Charbel Issa, Frank G Holz, Shahid M Baig, Yorck Hellenbroich, Alberto Galvez, Konrad Platzer, Bernd Wollnik, Nadja Laddach, Saeed Reza Ghaffari, Maryam Rafati, Elke Botzenhart, Sigrid Tinschert, Doris Börger, Axel Bohring, Julia Schreml, Stefani Körtge-Jung, Chayim Schell-Apacik, Khadijah Bakur, Jumana Y Al-Aama, Teresa Neuhann, Peter Herkenrath, Gudrun Nürnberg, Peter Nürnberg, John S Davis, Andreas Gal, Carsten Bergmann, Birgit Lorenz, Hanno J Bolz
Publikováno v:
PLoS ONE, Vol 8, Iss 11, p e78496 (2013)
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has pro
Externí odkaz:
https://doaj.org/article/86539f2aec6b41a1829b76c3c6c0becd
Autor:
Muhammad Jawad Hassan, Holger Thiele, Mohammad R. Toliat, Haseeb Anwar, Birgit Budde, Ilknur Sur-Erdem, M. Asif, Ludwig Eichinger, Arwa Ishaq A. Khayyat, Maria Iqbal, Peter Nürnberg, Muhammad Tariq, Angelika A. Noegel, Jamshaid Mahmood Baig, Ehtisham Ul Haq Makhdoom, Ilyas Ahmed, Muhammad Sher, Sarah Fischer, Uzma Abdullah, Christian Becker, Sigrid Tinschert, Stefan Höning, Muhammad Mohsin Ali Khan, Naveed Altaf Malik, Muhammad Jameel, Muhammad Sajid Hussain, Emrah Kaygusuz, Shahid Mahmood Baig
Publikováno v:
Clinical Genetics. 100:486-488
Jawad syndrome is a multiple congenital anomaly and intellectual disability syndrome with mutation in RBBP8 reported only in two families. Here, we report on two new families from Pakistan and identified a previously reported variant in RBBP8, NM_002
Autor:
Birgit Budde, Ilknur Sur-Erdem, Muhammad Mohsin Ali Khan, Mohammad R. Toliat, Stefan Höning, Angelika A. Noegel, Muhammad Jawad Hassan, Christian Becker, Sarah Fischer, Muhammad Sher, Naveed Altaf Malik, Jamshaid Mahmood Baig, Peter Nürnberg, Ehtisham Ul Haq Makhdoom, Ilyas Ahmed, Sigrid Tinschert, Haseeb Anwar, Muhammad Sajid Hussain, Uzma Abdullah, Shahid Mahmood Baig, Muhammad Tariq, Holger Thiele, Emrah Kaygusuz, Muhammad Jameel, Arwa Ishaq A. Khayyat, Maria Iqbal, M. Asif, Ludwig Eichinger
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4eac63d60fab7642873248ec926e6542
https://doi.org/10.1111/cge.14028/v2/response1
https://doi.org/10.1111/cge.14028/v2/response1
Autor:
M. Asif, Ehtisham Ul Haq Makhdoom, Muhammad Tariq, Maria Iqbal, Muhammad Sajid Hussain, Shahid Mahmood Baig, Sheraz Jamal Khan, Birgit Budde, Ghulam Hussain, Wolfgang Höhne, Janine Altmüller, Stefan Höning, Muhammad Jameel, Ambrin Fatima, Sigrid Tinschert, Ayaz Khan, Iram Anjum, Emrah Kaygusuz, Syeda Seema Waseem, Hammad Yousaf, Peter Nürnberg, Uzma Abdullah, Saadia Maryam Saadi, Holger Thiele, Zafar Ali
Publikováno v:
Genes
Volume 12
Issue 5
Genes, Vol 12, Iss 731, p 731 (2021)
Volume 12
Issue 5
Genes, Vol 12, Iss 731, p 731 (2021)
Congenital microcephaly is the clinical presentation of significantly reduced head circumference at birth. It manifests as both non-syndromic—microcephaly primary hereditary (MCPH)—and syndromic forms and shows considerable inter- and intrafamili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::474865bca935a6b350b9efe1a9c23656
http://edoc.mdc-berlin.de/20505/1/20505oa.pdf
http://edoc.mdc-berlin.de/20505/1/20505oa.pdf