Maternal smoking during pregnancy, fetal arterial resistance adaptations and cardiovascular function in childhood.

Autor: Geelhoed, J. J. M., el Marroun, H., Verburg, B. O., van Osch-Gevers, L., Hofman, A., Huizink, A. C., Moll, H. A., Verhulst, F. C., Helbing, W. A., Steegers, E. A. P., Jaddoe, V. W. V.

Publikováno v: BJOG: An International Journal of Obstetrics & Gynaecology; May2011, Vol. 118 Issue 6, p755-762, 8p, 2 Charts, 1 Graph

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

Autor: Herkert JC; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands. Electronic address: j.c.herkert@umcg.nl., Verhagen JMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. Electronic address: j.m.a.verhagen@erasmusmc.nl., Yotti R; Instituto de Investigación Sanitaria Gregorio Maranón, and CIBERCV, Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Haghighi A; Department of Genetics, Harvard Medical School Boston, MA, USA; Department of Medicine (Genetics), Brigham and Women's Hospital, Boston, MA, USA., Phelan DG; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia; Department of Pediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Victoria, Australia., James PA; Genetic Medicine, Royal Melbourne Hospital, Victoria, Australia., Brown NJ; Department of Pediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Australia., Stutterd C; Genetic Medicine, Royal Melbourne Hospital, Victoria, Australia., Macciocca I; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Australia., Leong K; Department of Cardiology, The Royal Children's Hospital, Victoria, Australia., Bulthuis MLC; University of Groningen, University Medical Center Groningen, Department of Pathology and Medical Biology, Groningen, The Netherlands., van Bever Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Boven LG; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Roberts AE; Department of Cardiology, Boston Children Hospital, Boston, MA, USA., Agarwal R; Department of Genetics, Harvard Medical School Boston, MA, USA., Seidman J; Department of Genetics, Harvard Medical School Boston, MA, USA., Lakdawala NK; Department of Medicine (Genetics), Brigham and Women's Hospital, Boston, MA, USA., Fernández-Avilés F; Instituto de Investigación Sanitaria Gregorio Maranón, and CIBERCV, Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Burke MA; Department of Medicine, Division of Cardiology, Emory University, Atlanta, GA, USA., Pierpont ME; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Braunlin E; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Ḉağlayan AO; Department of Medical Genetics, School of Medicine, Department of Molecular Medicine, Institute of Health Sciences, Dokuz Eylül University, Izmir, Turkey; Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, USA., Barge-Schaapveld DQCM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Birnie E; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., van Osch-Gevers L; Department of Pediatric Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., van Langen IM; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Jongbloed JDH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands., Lockhart PJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia; Department of Pediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Victoria, Australia., Amor DJ; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Victoria, Australia; Department of Pediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Victoria, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Victoria, Australia., Seidman CE; Department of Genetics, Harvard Medical School Boston, MA, USA; Department of Medicine (Genetics), Brigham and Women's Hospital, Boston, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Publikováno v: American heart journal [Am Heart J] 2020 Jul; Vol. 225, pp. 108-119. Date of Electronic Publication: 2020 Apr 21.

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Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.

Autor: Verhagen JMA; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam., van den Born M; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam., van der Linde HC; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam., G J Nikkels P; Department of Pathology (P.G.J.N.), University Medical Center Utrecht, Utrecht University, the Netherlands., Verdijk RM; Department of Pathology (R.M.V.), Erasmus MC, University Medical Center Rotterdam., Kivlen MH; Medical Research Council Laboratory of Molecular Biology, Cambridge Biomedical Campus, United Kingdom (M.H.K., R.S.H.)., van Unen LMA; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam., Baas AF; Department of Genetics (A.F.B.), University Medical Center Utrecht, Utrecht University, the Netherlands., Ter Heide H; Department of Pediatric Cardiology (H.t.H.), University Medical Center Utrecht, Utrecht University, the Netherlands., van Osch-Gevers L; Department of Pediatric Cardiology (L.v.O.-G.), Erasmus MC, University Medical Center Rotterdam., Hoogeveen-Westerveld M; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam., Herkert JC; Department of Genetics, University of Groningen, University Medical Center Groningen, the Netherlands (J.C.H.)., Bertoli-Avella AM; Centogene AG, Rostock (A.M.B.-A.)., van Slegtenhorst MA; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam., Wessels MW; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam., Verheijen FW; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam., Hassel D; Department of Medicine III, University Hospital Heidelberg, Germany (D.H.)., Hofstra RMW; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam., Hegde RS; Medical Research Council Laboratory of Molecular Biology, Cambridge Biomedical Campus, United Kingdom (M.H.K., R.S.H.)., van Hasselt PM; Department of Pediatrics (P.M.v.H.), University Medical Center Utrecht, Utrecht University, the Netherlands., van Ham TJ; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam., van de Laar IMBH; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam.

Publikováno v: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2019 Sep; Vol. 12 (9), pp. 397-406. Date of Electronic Publication: 2019 Aug 28.

Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy.

Autor: Kraoua, Lilia¹ (AUTHOR), Louati, Assaad^2,3 (AUTHOR), Ahmed, Sarra Ben⁴ (AUTHOR), Abida, Nesrine¹ (AUTHOR), Khemiri, Monia⁴ (AUTHOR), Menif, Khaled^2,3 (AUTHOR), Mrad, Ridha¹ (AUTHOR), Zaffran, Stéphane⁵ (AUTHOR) stephane.zaffran@univ‐amu.fr, Jaouadi, Hager⁵ (AUTHOR) hajer.jaouadi@univ‐amu.fr

Publikováno v: Molecular Genetics & Genomic Medicine. Jun2024, Vol. 12 Issue 6, p1-12. 12p.