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Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in MED13L Haploinsufficiency Syndrome

Autor: Preikšaitienė, Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Živilė Maldžienė, Aušra Sasnauskienė, Vilmantė Žitkutė, Laima Ambrozaitytė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė

Publikováno v: Medicina; Volume 59; Issue 7; Pages: 1225

Background and Objectives: Heterozygous pathogenic variants in the MED13L gene cause impaired intellectual development and distinctive facial features with or without cardiac defects (MIM #616789). This complex neurodevelopmental disorder is characte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=multidiscipl::8d862379dcd37ff074ad13de1c1f982e

Is MED13L-related intellectual disability a recognizable syndrome?

Autor: Marcella Zollino, Bernt Popp, Charlotte Brasch-Andersen, Jakob Ek, Giuseppe Marangi, Lotte Nylandsted Krogh, Laura Roos, Pernille Mathiesen Tørring, Tina Duelund Hjortshøj, Lone W. Laulund, Niels Ove Illum, Maria Kibaek, Naja Becher, Ulrike Dunkhase-Heinl, Christina Fagerberg, Antje Wiesener, Ida Vogel, Martin Jakob Larsen

Publikováno v: Tørring, P M, Larsen, M J, Brasch-Andersen, C, Krogh, L N, Kibæk, M, Laulund, L, Illum, N, Dunkhase-Heinl, U, Wiesener, A, Popp, B, Marangi, G, Hjortshøj, T D, Ek, J, Vogel, I, Becher, N, Roos, L, Zollino, M & Fagerberg, C R 2019, ' Is MED13L-related intellectual disability a recognizable syndrome? ', European Journal of Medical Genetics, vol. 62, no. 2, pp. 129-136 . https://doi.org/10.1016/j.ejmg.2018.06.014

INTRODUCTION: MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients with MED13L-related intellectual disability and review the litera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df02d1ca3067d0aa615905c15a68fdc2
https://doi.org/10.1016/j.ejmg.2018.06.014

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Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

Autor: Mullegama SV; UCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.; UCLA Clinical Genomics Center David Geffen School of Medicine University of California, Los Angeles Los Angeles California., Jensik P; Department of Physiology Southern Illinois University School of Medicine Carbondale Illinois., Li C; Department of Cellular and Genetic Medicine School of Basic Medical Sciences Fudan University Shanghai China., Dorrani N; UCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.; UCLA Clinical Genomics Center David Geffen School of Medicine University of California, Los Angeles Los Angeles California.; Department of Human Genetics David Geffen School of Medicine University of California, Los Angeles Los Angeles California.; Department of Pediatrics David Geffen School of Medicine University of California, Los Angeles Los Angeles California., Kantarci S; UCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.; UCLA Clinical Genomics Center David Geffen School of Medicine University of California, Los Angeles Los Angeles California., Blumberg B; Kaiser Permanente Oakland California., Grody WW; UCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.; UCLA Clinical Genomics Center David Geffen School of Medicine University of California, Los Angeles Los Angeles California.; Department of Human Genetics David Geffen School of Medicine University of California, Los Angeles Los Angeles California.; Department of Pediatrics David Geffen School of Medicine University of California, Los Angeles Los Angeles California., Strom SP; UCLA Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles Los Angeles California.; UCLA Clinical Genomics Center David Geffen School of Medicine University of California, Los Angeles Los Angeles California.

Publikováno v: Clinical case reports [Clin Case Rep] 2017 Apr 18; Vol. 5 (6), pp. 833-840. Date of Electronic Publication: 2017 Apr 18 (Print Publication: 2017).