The unsolved problem of radial longitudinal dysplasia: how can we reliably prevent recurrence, preserve growth and optimize function?

Autor: Christianne A. van Nieuwenhoven, Max Mann, Wiebke Hülsemann

Publikováno v: Journal of Hand Surgery (European Volume). 48:222-229

Congenital radial longitudinal dysplasia remains an ‘unsolved problem' in hand surgery. The challenges presented by the skeletal deficiency of the distal radius and soft tissue dysplasia of the severe radial longitudinal deficiency have been addres

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e89537a382b50833541c6b7b0d8aba3
https://doi.org/10.1177/17531934221146893

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Autor: Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhaes, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, Alisa M. V. Reiter, Jonas Elsner, Peter Meinecke, Saskia Biskup, Brian H. Y. Chung, Gregor Dombrowsky, Christel Eckmann-Scholz, Marc Phillip Hitz, Alexander Hoischen, Paul-Martin Holterhus, Wiebke Hülsemann, Kimia Kahrizi, Vera M. Kalscheuer, Anita Kan, Mandy Krumbiegel, Ingo Kurth, Jonas Leubner, Ann Carolin Longardt, Jörg D. Moritz, Hossein Najmabadi, Karolina Skipalova, Lot Snijders Blok, Andreas Tzschach, Eberhard Wiedersberg, Martin Zenker, Carla Garcia-Cabau, René Buschow, Xavier Salvatella, Matthew L. Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz

Publikováno v: Nature
Nature, 614, 7948, pp. 564-571
Nature, 614, 564-571

Thousands of genetic variants in protein-coding genes have been linked to disease. However, the functional impact of most variants is unknown as they occur within intrinsically disordered protein regions that have poorly defined functions1–3. Intri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7d44f81500de5059b7ca491edb8534c
http://hdl.handle.net/2445/200283

Hand- und Fußfehlbildungen im Kindes- und Jugendalter

Autor: Wiebke Hülsemann

Publikováno v: Orthopädie und Unfallchirurgie up2date. 16:163-183

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::48e38b1daa5695dda07e07d386d9b15a
https://doi.org/10.1055/a-1161-0389

[Differential therapeutic Approaches in congenital Malformations of the Hand]

Autor: Darja, Sippel, Wiebke, Hülsemann

Publikováno v: Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Mikrochirurgie der Peripheren Nerven und Gefasse : Organ der V.... 54(3)

With the same clinical picture, different pathological changes must be expected in congenital malformations of the hand. Therefore, knowledge of these pathologies is crucial for planning the surgical approach. The approaches to common malformations a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ef807e8e7f79cf7a073adf82b5f83e99
https://pubmed.ncbi.nlm.nih.gov/35688425

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

Autor: Fernando Santos-Simarro, Aude Annick Suter, Uwe Kornak, Wiebke Hülsemann, Rosario Ramos-Mejia, Victoria Huckstadt, Angela Abad Perez, Stefan Mundlos, Pernille Mathiesen Toerring, Manuel Parrón-Pajares, Manuel Holtgrewe, Oliver Bartsch, Karen E. Heath, Nadja Ehmke, Martin A. Mensah

Publikováno v: American Journal of Medical Genetics Part A
Suter, A A, Santos-Simarro, F, Toerring, P M, Abad Perez, A, Ramos-Mejia, R, Heath, K E, Huckstadt, V, Parrón-Pajares, M, Mensah, M A, Hülsemann, W, Holtgrewe, M, Mundlos, S, Kornak, U, Bartsch, O & Ehmke, N 2020, ' Variable pulmonary manifestations in Chitayat syndrome : Six additional affected individuals ', American Journal of Medical Genetics, Part A, vol. 182, no. 9, pp. 2068-2076 . https://doi.org/10.1002/ajmg.a.61735

Hand hyperphalangism leading to shortened index fingers with ulnar deviation, hallux valgus, mild facial dysmorphism and respiratory compromise requiring assisted ventilation are the key features of Chitayat syndrome. This condition results from the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f20109ad4f9ebdba4773c8c0b0a24f93
https://doi.org/10.1002/ajmg.a.61735