Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Basaran, SY"'
Autor:
Caparros-Martin, JA, Aglan, MS, Temtamy, S, Otaify, GA, Valencia, M, Nevado, J, Vallespin, E, Del Pozo, A, de Castro, CP, Calatrava-Ferreras, L, Gutierrez, P, Bueno, AM, Sagastizabal, B, Guillen-Navarro, E, Ballesta-Martinez, M, Gonzalez, V, Basaran, SY, Buyukoglan, R, Sarikepe, B, Espinoza-Valdez, C, Cammarata-Scalisi, F, Martinez-Glez, V, Heath, KE, Lapunzina, P, Ruiz-Perez, VL
BackgroundOsteogenesis imperfecta (OI) is a heterogeneous bone disorder characterized by recurrent fractures. Although most cases of OI have heterozygous mutations in COL1A1 or COL1A2 and show autosomal dominant inheritance, during the last years the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8fcf48e87c27ef519be2d5c440e4c099
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/16180
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/16180
Autor:
Caparros-Martin JA; Instituto de Investigaciones BiomédicasConsejo Superior de Investigaciones Científicas-Universidad Autónoma de MadridMadridSpain; CIBER de enfermedades Raras (CIBERER)MadridSpain., Aglan MS; Human Genetics and Genome Research Division Centre of Excellence of Human Genetics National Research Centre Cairo Egypt., Temtamy S; Human Genetics and Genome Research Division Centre of Excellence of Human Genetics National Research Centre Cairo Egypt., Otaify GA; Human Genetics and Genome Research Division Centre of Excellence of Human Genetics National Research Centre Cairo Egypt., Valencia M; CIBER de enfermedades Raras (CIBERER) Madrid Spain., Nevado J; Instituto de Genética Médica y Molecular (INGEMM) Hospital Universitario La Paz-IdiPaz Universidad Autónoma de Madrid Madrid Spain., Vallespin E; Instituto de Genética Médica y Molecular (INGEMM) Hospital Universitario La Paz-IdiPaz Universidad Autónoma de Madrid Madrid Spain., Del Pozo A; Instituto de Genética Médica y Molecular (INGEMM) Hospital Universitario La Paz-IdiPaz Universidad Autónoma de Madrid Madrid Spain., Prior de Castro C; Instituto de Genética Médica y Molecular (INGEMM) Hospital Universitario La Paz-IdiPaz Universidad Autónoma de Madrid Madrid Spain., Calatrava-Ferreras L; Instituto de Investigaciones BiomédicasConsejo Superior de Investigaciones Científicas-Universidad Autónoma de MadridMadridSpain; CIBER de enfermedades Raras (CIBERER)MadridSpain., Gutierrez P; Orthopedic Surgery Department and Endocrinology Department Hospital Universitario de Getafe Madrid Spain., Bueno AM; Orthopedic Surgery Department and Endocrinology Department Hospital Universitario de Getafe Madrid Spain., Sagastizabal B; Orthopedic Surgery Department and Endocrinology Department Hospital Universitario de Getafe Madrid Spain., Guillen-Navarro E; CIBER de enfermedades Raras (CIBERER)MadridSpain; Unidad de Genética MédicaServicio de PediatríaHospital Universitario Virgen de la ArrixacaMurciaSpain., Ballesta-Martinez M; Unidad de Genética Médica Servicio de Pediatría Hospital Universitario Virgen de la Arrixaca Murcia Spain., Gonzalez V; Unidad de Genética Médica Servicio de Pediatría Hospital Universitario Virgen de la Arrixaca Murcia Spain., Basaran SY; Department of Medical Genetics Faculty of Medicine Istanbul Medeniyet University Istanbul Turkey., Buyukoglan R; Department of Genetics Faculty of Medicine Erciyes University Kayseri Turkey., Sarikepe B; Department of Genetics School of Medicine Pamukkale University Denizli Turkey., Espinoza-Valdez C; Hospital Universitario Católico Cuenca Ecuador., Cammarata-Scalisi F; Unidad de Genética Médica Departamento de Pediatría Universidad de Los Andes Mérida Venezuela., Martinez-Glez V; CIBER de enfermedades Raras (CIBERER)MadridSpain; Instituto de Genética Médica y Molecular (INGEMM)Hospital Universitario La Paz-IdiPazUniversidad Autónoma de MadridMadridSpain., Heath KE; CIBER de enfermedades Raras (CIBERER)MadridSpain; Instituto de Genética Médica y Molecular (INGEMM)Hospital Universitario La Paz-IdiPazUniversidad Autónoma de MadridMadridSpain; Skeletal Dysplasia Multidisciplinary Unit (UMDE)Hospital Universitario La PazMadridSpain., Lapunzina P; CIBER de enfermedades Raras (CIBERER)MadridSpain; Instituto de Genética Médica y Molecular (INGEMM)Hospital Universitario La Paz-IdiPazUniversidad Autónoma de MadridMadridSpain; Skeletal Dysplasia Multidisciplinary Unit (UMDE)Hospital Universitario La PazMadridSpain., Ruiz-Perez VL; Instituto de Investigaciones BiomédicasConsejo Superior de Investigaciones Científicas-Universidad Autónoma de MadridMadridSpain; CIBER de enfermedades Raras (CIBERER)MadridSpain; Skeletal Dysplasia Multidisciplinary Unit (UMDE)Hospital Universitario La PazMadridSpain.
Publikováno v:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2016 Dec 20; Vol. 5 (1), pp. 28-39. Date of Electronic Publication: 2016 Dec 20 (Print Publication: 2017).
Autor:
Akalin I; Department of Medical Genetics, Faculty of Medicine, İstanbul Medeniyet University, İstanbul, Turkey., Bozdag S, Spielmann M, Basaran SY, Nanda I, Klopocki E
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2014 Feb; Vol. 164A (2), pp. 490-4. Date of Electronic Publication: 2013 Dec 05.
Autor:
Seven M; Istanbul University, Cerrahpaşa Medical Faculty, Department of Medical Genetics, Istanbul, Turkey. mimseven@istanbul.edu.tr, Basaran SY, Cengiz M, Unal S, Yuksel A
Publikováno v:
Epilepsy research [Epilepsy Res] 2013 Mar; Vol. 104 (1-2), pp. 35-9. Date of Electronic Publication: 2012 Oct 25.
Autor:
Nizon M; Departement de Génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France., Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V
Publikováno v:
Human mutation [Hum Mutat] 2012 Aug; Vol. 33 (8), pp. 1261-6. Date of Electronic Publication: 2012 May 22.
Autor:
Basaran SY; Department of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey., Sensoy V, Kiroglu K, Messiaen L, Tuysuz B
Publikováno v:
Genetic counseling (Geneva, Switzerland) [Genet Couns] 2010; Vol. 21 (3), pp. 307-16.