Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Autor: Ashton EJ; North East Thames Regional Genetics Service Laboratories, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK., Legrand A; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Faculty of Medicine, Paris Sorbonne Cité, Université Paris Descartes, Paris, France., Benoit V; Center of Human Genetics, Institut de Pathologie et Génétique, Gosselies, Belgium., Roncelin I; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France., Venisse A; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France., Zennaro MC; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Faculty of Medicine, Paris Sorbonne Cité, Université Paris Descartes, Paris, France; Institut National de la Santé et la Recherche Médicale, Unité Mixte de Recherche en Santé 970, Paris-Cardiovascular Research Center, Paris, France., Jeunemaitre X; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Faculty of Medicine, Paris Sorbonne Cité, Université Paris Descartes, Paris, France; Institut National de la Santé et la Recherche Médicale, Unité Mixte de Recherche en Santé 970, Paris-Cardiovascular Research Center, Paris, France., Iancu D; Centre for Nephrology, University College London, London, UK., Van't Hoff WG; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Walsh SB; Centre for Nephrology, University College London, London, UK., Godefroid N; Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, Belgium., Rotthier A; Multiplicom N.V. (a part of Agilent Technologies), Niel, Belgium., Del Favero J; Multiplicom N.V. (a part of Agilent Technologies), Niel, Belgium., Devuyst O; Institute of Physiology, Zurich Center for Integrative Human Physiology, Mechanisms of Inherited Kidney Disorders Group, University of Zurich, Zurich, Switzerland; Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, Belgium., Schaefer F; Division of Paediatric Nephrology, Heidelberg University Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany., Jenkins LA; North East Thames Regional Genetics Service Laboratories, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK., Kleta R; Centre for Nephrology, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Dahan K; Center of Human Genetics, Institut de Pathologie et Génétique, Gosselies, Belgium; Division of Nephrology, Université Catholique de Louvain Medical School, Brussels, Belgium., Vargas-Poussou R; Department of Genetics, Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Faculty of Medicine, Paris Sorbonne Cité, Université Paris Descartes, Paris, France. Electronic address: rosa.vargas@aphp.fr., Bockenhauer D; Centre for Nephrology, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address: d.bockenhauer@ucl.ac.uk.

Publikováno v: Kidney international [Kidney Int] 2018 Apr; Vol. 93 (4), pp. 961-967. Date of Electronic Publication: 2018 Feb 15.

Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

Autor: Rajakulendran S; Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology, and National Hospital for Neurology and Neurosurgery, London, England., Kuntzer T, Dunand M, Yau SC, Ashton EJ, Storey H, McCauley J, Abbs S, Thonney F, Leturcq F, Lobrinus JA, Yousry T, Farmer S, Holton JL, Hanna MG

Publikováno v: Archives of neurology [Arch Neurol] 2010 Apr; Vol. 67 (4), pp. 497-500.

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.

Autor: Bunyan DJ; National Genetics Reference Laboratory (Wessex), Salisbury Hospital NHS Trust, Salisbury, Wiltshire, SP2 8BJ. Dave.Bunyan@salisbury.nhs.uk, Skinner AC, Ashton EJ, Sillibourne J, Brown T, Collins AL, Cross NC, Harvey JF, Robinson DO

Publikováno v: Molecular biotechnology [Mol Biotechnol] 2007 Feb; Vol. 35 (2), pp. 135-40.