Zobrazeno 1 - 10
of 115
pro vyhledávání: '"Kreskowski K."'
Publikováno v:
Balkan Journal of Medical Genetics, Vol 20, Iss 1, Pp 87-90 (2017)
Here we report one new case each of an X-autosome translocation (maternally derived), and an X-Y-chromosome translocation. Besides characterizing the involved breakpoints and/or imbalances in detail by molecular cyto-genetics, also skewed X-chromosom
Externí odkaz:
https://doaj.org/article/1709f12195654a4ba2ba46e8c8e1179e
Publikováno v:
Balkan Journal of Medical Genetics, Vol 16, Iss 2, Pp 29-32 (2013)
Meningioma is the second most common adult central nervous system tumor. Mutations and/or deletions within the tumor suppressor gene neurofibromatosis type 2 (NF2) are associated with meningioma development and progression. We studied 29 meningioma s
Externí odkaz:
https://doaj.org/article/b3f8bedaaf4c40daa85868f4556ae35f
Autor:
Liehr T, Kosayakova N, Schröder J, Ziegler M, Kreskowski K, Pohle B, Bhatt S, Theuss L, Wilhelm K, Weise A, Mrasek K
Publikováno v:
Balkan Journal of Medical Genetics, Vol 14, Iss 2, Pp 13-16 (2011)
Externí odkaz:
https://doaj.org/article/a27d64fdcc39479ea41b492a909a06a3
Background: Short arm deletions of the X-chromosome are challenging issues for genetic counseling due to their low penetrance in population. Female carriers of these deletions have milder phenotype than male ones, considering the intellectual ability
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::be43772ac7cd065552d249da3f68da09
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087069
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3087069
The 4q deletion syndrome phenotype consists of growth failure and developmental delay, minor craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified an inversion (inv(1)(q25.2q31.1)) and an interstitial delet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::ae7725e13bdb4ccf8bdb5e5c343eee28
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3088759
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3088759
Autor:
Papoulidis I; Access to Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece., Vetro A; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Paspaliaris V; Access to Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece., Ziegler M; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743Jena, Germany., Kreskowski K; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743Jena, Germany., Daskalakis G; Department of Obstetrics & Gynecology, 'Alexandra' Hospital, University of Athens, Athens, Greece., Papadopoulos V; Department of Obstetrics & Gynecology, University of Patra, Patra, Greece., Dagklis T; 3 Obstetrics and Gynecology Clinic, Ippokrateion Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece., Liehr T; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743Jena, Germany., Thomaidis L; Developmental Assessment Unit, 2 Department of Pediatrics, P. & A. Kyriakou Children's Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece., Manolakos E; Access to Genome P.C., Clinical Laboratory Genetics, Athens-Thessaloniki, Greece.; Developmental Assessment Unit, 2 Department of Pediatrics, P. & A. Kyriakou Children's Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.; Department of Medical Genetics, University of Cagliari, Binaghi Hospital, Cagliari, Italy.
Publikováno v:
Current genomics [Curr Genomics] 2018 Apr; Vol. 19 (3), pp. 240-246.
Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.
Autor:
Liehr T; 1Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Postfach D-07740, Jena, Germany., Schreyer I; 1Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Postfach D-07740, Jena, Germany.; 2Center for Ambulant Medicine, Jena University Hospital, Jena, Germany., Kuechler A; 3Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany., Manolakos E; Access to Genome, ATG Labs, Athens, Greece., Singer S; Institut für Medizinische Genetik und angewandte Genomik, Tübingen, Germany., Dufke A; Institut für Medizinische Genetik und angewandte Genomik, Tübingen, Germany., Wilhelm K; 1Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Postfach D-07740, Jena, Germany., Jančušková T; 6Synlab czech s.r.o., synlab genetics s.r.o, Praha, Czech Republic., Čmejla R; 6Synlab czech s.r.o., synlab genetics s.r.o, Praha, Czech Republic., Othman MAK; 1Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Postfach D-07740, Jena, Germany., Al-Rikabi AH; 1Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Postfach D-07740, Jena, Germany., Mrasek K; 1Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Postfach D-07740, Jena, Germany., Ziegler M; 1Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Postfach D-07740, Jena, Germany., Kankel S; 1Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Postfach D-07740, Jena, Germany., Kreskowski K; 1Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Postfach D-07740, Jena, Germany., Weise A; 1Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Postfach D-07740, Jena, Germany.
Publikováno v:
Molecular cytogenetics [Mol Cytogenet] 2018 Mar 09; Vol. 11, pp. 20. Date of Electronic Publication: 2018 Mar 09 (Print Publication: 2018).
Autor:
Chbel, Faiza1,2 (AUTHOR) cfaiza75@gmail.com, Hamdaoui, Hasna1 (AUTHOR), Mossafa, Houssein1 (AUTHOR), Ouldim, Karim1 (AUTHOR), Benrahma, Houda1,3 (AUTHOR)
Publikováno v:
Egyptian Journal of Medical Human Genetics. 3/23/2024, Vol. 25 Issue 1, p1-6. 6p.
Autor:
Hussein SS; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany., Kreskowski K; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany., Ziegler M; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany., Klein E; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany., Hamid AB; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany., Kosyakova N; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany., Volleth M; Institut für Humangenetik, Universitätsklinikum, Leipziger Str. 44, 39120 Magdeburg, Germany., Liehr T; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany. Electronic address: Thomas.Liehr@med.uni-jena.de., Fan X; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany., Piaszinski K; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany.
Publikováno v:
Gene [Gene] 2014 Dec 01; Vol. 552 (2), pp. 246-8. Date of Electronic Publication: 2014 Sep 20.
Autor:
Spittel H; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena, Germany., Kubek F, Kreskowski K, Ziegler M, Klein E, Hamid AB, Kosyakova N, Radhakrishnan G, Junge A, Kozlowski P, Schulze B, Martin T, Huhle D, Mehnert K, Rodríguez L, Ergun MA, Sarri C, Militaru M, Stipoljev F, Tittelbach H, Vasheghani F, de Bello Cioffi M, Hussein SS, Fan X, Volleth M, Liehr T
Publikováno v:
Cytogenetic and genome research [Cytogenet Genome Res] 2014; Vol. 142 (3), pp. 151-60. Date of Electronic Publication: 2014 Apr 01.