Zobrazeno 1 - 10
of 734
pro vyhledávání: '"Jürgen, Kohlhase"'
Autor:
Antonia Howaldt, MD, Sandrine Lenglez, BSc, Clara Velmans, MD, Anne Maria Schultheis, MD, Thomas Clahsen, PhD, Mario Matthaei, MD, Jürgen Kohlhase, MD, Christian Vokuhl, MD, Reinhard Büttner, MD, Christian Netzer, MD, Jean-Baptiste Demoulin, PhD, Claus Cursiefen, MD, PhD
Publikováno v:
Ophthalmology Science, Vol 4, Iss 3, Pp 100444- (2024)
Purpose: To investigate the genetic cause, clinical characteristics, and potential therapeutic targets of infantile corneal myofibromatosis. Design: Case series with genetic and functional in vitro analyses. Participants: Four individuals from 2 unre
Externí odkaz:
https://doaj.org/article/0c34c72456184f88bcbbf12bc816fc2d
Autor:
Amelie S. Lotz-Havla, Katharina J. Weiß, Katharina A. Schiergens, Theresa Brunet, Jürgen Kohlhase, Stephanie Regenauer-Vandewiele, Esther M. Maier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominently the nervous system
Externí odkaz:
https://doaj.org/article/8d5fce646f904af18efa0edc44a89bef
Autor:
Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intel
Externí odkaz:
https://doaj.org/article/8bc14e835d25412b97b23f80259be0cf
Publikováno v:
Head & Face Medicine, Vol 15, Iss 1, Pp 1-10 (2019)
Abstract Background The Gorlin-Goltz syndrome is an autosomal dominant disorder characterized by keratocystic odontogenic tumors in the jaws, multiple basal cell carcinomas and skeletal abnormities. Frequently, the manifestation of the syndrome occur
Externí odkaz:
https://doaj.org/article/e5d8bd3d77e3452db38c86e4423d2a33
Autor:
Ruediger Klaes, Thomas Eggermann, Gundula Kadgien, Sümeyye Cöktü, Cornelia Kraus, Melanie Kaiser, Alf Beckmann, Nadine Bachmann, Jürgen Kohlhase, Christian P. Kratz, Martin Zenker, Stephanie Kleinle, Michael Kutsche, Claudia Nevinny-Stickel-Hinzpeter, Saskia Biskup, Claudia Spix, Dirk Prawitt, Jasmin Beygo, Nicolai Kohlschmidt, Steffi Döhnert, Inga Vater
Publikováno v:
British Journal of Cancer
Background Beckwith-Wiedemann syndrome (BWS) is a cancer predisposition syndrome caused by defects on chromosome 11p15.5. The quantitative cancer risks in BWS patients depend on the underlying (epi)genotype but have not yet been assessed in a populat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2504ddb9efcc2248e6bbd89f37024405
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85085321542
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85085321542
Autor:
Ingrid Hausser, Nadja Chmel, Jürgen Kohlhase, Cristina Has, Wiktor Borozkin, Olivier Bornert, Alexander Nyström, G. Grüninger
Publikováno v:
Journal of Investigative Dermatology. 138:987-991
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98070b6b60ddd7b8b0e6a96ff999bf49
https://doi.org/10.1016/j.jid.2017.11.014
https://doi.org/10.1016/j.jid.2017.11.014
Autor:
Aykut Aytulun, Martina Minnerop, Stefan Jun Groiss, Shady S. Hassan, Christian J. Hartmann, Jürgen Kohlhase, Alfons Schnitzler, Petyo Nikolov, Philipp Albrecht
Publikováno v:
The Cerebellum. 18:969-971
DYT-THAP1 dystonia is known to present a variety of clinical symptoms. To the best of our knowledge, this is the first case with DYT-THAP 1 dystonia and clinical signs of cerebellar involvement studied with transcranial magnetic stimulation in vivo.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eb1cd9ff219dfdd30456c0d9df7ca2e
https://doi.org/10.1007/s12311-019-01062-0
https://doi.org/10.1007/s12311-019-01062-0
Autor:
Jürgen Kohlhase, Cristina Has, Holm Schneider, Johanna Hammersen, Martin Lindner, Rainer Rossi, Matthias Galiano
Publikováno v:
Clinical Pediatrics. 57:99-102
In summary, this study shows that AE is an important differential diagnosis of genetic blistering disorders in infants, especially when skin lesions are found periorificially and the onset of symptoms correlates with the introduction of solid foods.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2a80bdd9c68f403b01e944abf25de12
https://doi.org/10.1177/0009922816685820
https://doi.org/10.1177/0009922816685820
Autor:
Christiane Zweier, Ute Moog, Peter Bauer, Dieter Gläser, Jürgen Kohlhase, Miriam S. Reuter, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Angelika Riess, Ddd Study, André Reis, Pascal Joset, Anita Rauch, Stefanie Beck-Wödl, Kate Chandler, Katharina Steindl, Tracy A Briggs, Miriam Stampfer
Publikováno v:
Journal of Medical Genetics. 54:64-72
Background Disruptions of the FOXP2 gene, encoding a forkhead transcription factor, are the first known monogenic cause of a speech and language disorder. So far, mainly chromosomal rearrangements such as translocations or larger deletions affecting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfd76566753c7521ef7ecafed15d6f22
https://doi.org/10.1136/jmedgenet-2016-104094
https://doi.org/10.1136/jmedgenet-2016-104094
Autor:
Jürgen Kohlhase, Jonathan Levy, Dan Lipsker, Véronique Lambert, Frédéric Adjimi, Damien Haye, Mohamed Agha, Hend Dridi, Alain Verloes, Maurice Lambert
Publikováno v:
American Journal of Medical Genetics Part A. 170:2750-2755
Mandibuloacral dysplasia with type B lipodystrophy is a rare autosomal recessive disease characterized by atrophic skin, lipodystrophy, and skeletal features. It is caused by mutations in ZMPSTE24, a gene encoding a zinc metalloproteinase involved in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::34600260c7c698ca6e1a884b9ee46002
https://doi.org/10.1002/ajmg.a.37825
https://doi.org/10.1002/ajmg.a.37825