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Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.

Autor: Robinson HK; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Zaklyazminskaya E; Medical Genetics Laboratory, Petrovsky National Research Centre of Surgery, Moscow, Russia.; NGS Laboratory | Genotyping Laboratory | Genetic Counseling Department, Centre of Genetics and Reproductive Medicine 'Genetico', Moscow, Russia., Povolotskaya I; NGS Laboratory | Genotyping Laboratory | Genetic Counseling Department, Centre of Genetics and Reproductive Medicine 'Genetico', Moscow, Russia., Surikova Y; Medical Genetics Laboratory, Petrovsky National Research Centre of Surgery, Moscow, Russia., Mallin L; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Armstrong C; Paediatric Cardiac Service, Bristol Royal Hospital for Children, Bristol, UK., Mabin D; Paediatrics Service, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Benke PJ; Clinical Genetics Dpt, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Charles E. Schmidt College of Medicine, Florida Atlantic University, Boca Raton, Florida, USA., Chrisant MR; Clinical Genetics Dpt, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., McDonald M; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA., Marboe CC; Department of Pathology and Cell Biology, Columbia University Medical Centre, New York, New York, USA., Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Deyle DR; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., McWalter K; Clinical Genomics, GeneDx Inc, Gaithersburg, Maryland, USA., Douglas G; Clinical Genomics, GeneDx Inc, Gaithersburg, Maryland, USA., Balashova MS; NGS Laboratory | Genotyping Laboratory | Genetic Counseling Department, Centre of Genetics and Reproductive Medicine 'Genetico', Moscow, Russia.; Chair of Genetics, I.M. Sechenov First Moscow State Medical University (Sechenov University)., Kaimonov V; NGS Laboratory | Genotyping Laboratory | Genetic Counseling Department, Centre of Genetics and Reproductive Medicine 'Genetico', Moscow, Russia., Shirokova N; NGS Laboratory | Genotyping Laboratory | Genetic Counseling Department, Centre of Genetics and Reproductive Medicine 'Genetico', Moscow, Russia., Pomerantseva E; NGS Laboratory | Genotyping Laboratory | Genetic Counseling Department, Centre of Genetics and Reproductive Medicine 'Genetico', Moscow, Russia., Turner CL; Peninsula Clinical Genetics Service, Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, College of Medicine and Health, Exeter, UK.

Publikováno v: Clinical genetics [Clin Genet] 2020 Oct; Vol. 98 (4), pp. 331-340. Date of Electronic Publication: 2020 Aug 02.

Ventricular assist device-associated anti-human leukocyte antigen antibody sensitization in pediatric patients bridged to heart transplantation.

Autor: O'Connor MJ; Division of Cardiology, Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104-4399, USA. oconnorm@email.chop.edu, Menteer J, Chrisant MR, Monos D, Lind C, Levine S, Gaynor JW, Hanna BD, Paridon SM, Ravishankar C, Kaufman BD

Publikováno v: The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation [J Heart Lung Transplant] 2010 Jan; Vol. 29 (1), pp. 109-16.

Prevalence and risk factors for tricuspid valve regurgitation after pediatric heart transplantation.

Autor: Sivarajan VB; Division of Cardiac Critical Care, Department of Critical Care Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada. ben.sivarajan@sickkids.ca, Chrisant MR, Ittenbach RF, Clark BJ 3rd, Hanna BD, Paridon SM, Spray TL, Wernovsky G, Gaynor JW

Publikováno v: The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation [J Heart Lung Transplant] 2008 May; Vol. 27 (5), pp. 494-500.