Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population

Autor: Teymoor Khosravi, Karim Naghipoor, Fatemeh Vaghefi, Ali Mohammad Falahati, Morteza Oladnabi

Publikováno v: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-20 (2024)

Abstract Background Ehlers–Danlos syndrome (EDS), osteogenesis imperfecta (OI), and cutis laxa (CL) are three rare and heterogeneous connective tissue disorders. Patients with these syndromes have similar manifestations and unpredictable prognosis,

Externí odkaz: https://doaj.org/article/16841326433644b4b5cb70fbdfab97ff

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Autor: Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, Ostergaard, Pia

Publikováno v: In Genetics in Medicine July 2021 23(7):1315-1324

Back to Broad? How Molecular Profiling Facilitates Targeted Therapies of Overlapping Phenotypes.

Autor: Eyerich K; Division of Dermatology and Venereology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Dermatology and Venereology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Garzorz-Stark N; Division of Dermatology and Venereology, Department of Medicine Solna, Karolinska Institutet, Stockholm, Sweden; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Dermatology and Allergy, Technical University of Munich, Munich, Germany. Electronic address: natalie.garzorz@tum.de.

Publikováno v: The Journal of investigative dermatology [J Invest Dermatol] 2024 Jan; Vol. 144 (1), pp. 3-4. Date of Electronic Publication: 2023 Sep 14.

P278: Triple diagnoses with overlapping phenotypes: Recommendations and reflections

Autor: Kate Richardson, Hope Northrup, S. Nicholas Russo, John Giang, Jenny Do

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100306- (2023)

Externí odkaz: https://doaj.org/article/0419e62fe1c64e1fa41ecc2624466814