Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

Autor: Aartsma-Rus, A, Hegde, M, Ben-Omran, T, Buccella, F, Ferlini, A, Gallano, P, Howell, RR, Leturcq, F, Martin, AS, Potulska-Chromik, A, Saute, JA, Schmidt, WM, Sejersen, T, Tuffery-Giraud, S, Uyguner, ZO, Witcomb, LA, Yau, S, Nelson, SF

Publikováno v: JOURNAL OF PEDIATRICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::e84954575d952f99828aadae03e3c5d0
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3142

Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling.

Autor: Toksoy, G¹ (AUTHOR), Durmus, H² (AUTHOR), Aghayev, A¹ (AUTHOR), Bagirova, G¹ (AUTHOR), Sevinc Rustemoglu, B¹ (AUTHOR), Basaran, S¹ (AUTHOR), Avci, S¹ (AUTHOR), Karaman, B¹ (AUTHOR), Parman, Y² (AUTHOR), Altunoglu, U¹ (AUTHOR), Yapici, Z³ (AUTHOR), Tekturk, P³ (AUTHOR), Deymeer, F² (AUTHOR), Topaloglu, H⁴ (AUTHOR), Kayserili, H^1,5 (AUTHOR), Oflazer-Serdaroglu, P^2,5 (AUTHOR), Uyguner, ZO¹ (AUTHOR) o.uyguner@istanbul.edu.tr

Publikováno v: Neuromuscular Disorders. Aug2019, Vol. 29 Issue 8, p601-613. 13p.

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Autor: Le C, Argilli E, George E, Kalaycı T, Uyguner ZO, Karaman B, Demirören T, Heron D, Sabatier I, Rodan LH, Girisha KM, Radhakrishnan P, Saunders C, Sullivan B, Fleming E, Alvi JR, Sultan T, Houlden H, Efthymiou S, Guillen Sacoto MJ, Goodman M, Pierron L, De Sainte-Agathe JM, Durr A, Sherr EH

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Oct 30. Date of Electronic Publication: 2024 Oct 30.

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.

Autor: Turgut GT; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Altunoglu U; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey., Gulec C; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Sarac Sivrikoz T; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Kalaycı T; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Toksoy G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Avcı Ş; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey., Yıldırım BT; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Sayın GY; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Kalelioglu IH; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Karaman B; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Pediatric Basic Sciences, Institute of Child Health, Istanbul University, Istanbul, Turkey., Has R; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Başaran S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Yuksel A; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Kayserili H; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Department of Medical Genetics, Koç University School of Medicine (KUSoM), Istanbul, Turkey., Uyguner ZO; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Publikováno v: Clinical genetics [Clin Genet] 2024 Jun; Vol. 105 (6), pp. 596-610. Date of Electronic Publication: 2024 Jan 26.

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.

Autor: Senturk L; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Gulec C; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Sarac Sivrikoz T; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Kayserili H; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey., Kalelioglu IH; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Avci S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey., Has R; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Coucke P; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Kalayci T; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Karaman B; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Institute of Child Health, Department of Pediatric Basic Sciences, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Toksoy G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Symoens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Yuksel A; Division of Perinatology, Department of Obstetrics and Gynecology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Basaran S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Tuysuz B; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Medical School, Istanbul, Turkey., Altunoglu U; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.; Medical Genetics Department, Koç University School of Medicine, Istanbul, Turkey., Uyguner ZO; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Publikováno v: Fetal diagnosis and therapy [Fetal Diagn Ther] 2024; Vol. 51 (3), pp. 285-299. Date of Electronic Publication: 2024 Feb 12.