Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

Autor: Tepe B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA., Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Niceta M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Weisz Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA., Schultz-Rogers L; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Zarate YA; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA., Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Granadillo De Luque JL; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri, USA., Cogne B; Laboratory of Molecular Genetics, CHU de Nantes, Nantes, France., Gilbert-Dussardier B; Department of Medical Genetics, CHU de Poitiers, Poitiers, France., Le Guillou X; Department of Medical Genetics, CHU de Poitiers, Poitiers, France., Wagner EJ; Department of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester School of Medicine, Rochester, NY 14642, USA., Pais LS; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Neil JE; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Mochida GH; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA., Walsh CA; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA., Magal N; The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel., Drasinover V; The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel., Shohat M; Cancer Research Center, Chaim Sheba Medical Center, Ramat Gan, Israel; Medical Genetics Institute of Maccabi HMO, Rechovot, Israel., Schwab T; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Schmitz C; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Clark K; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA., Fine A; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA., Lanpher B; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Blanc P; APHP, Département de génétique, Sorbonne Université, GRC n°19, ConCer-LD, Centre de Référence déficiences intellectuelles de causes rares, Hôpital Armand Trousseau, 75012 Paris, France., Burglen L; APHP, Département de génétique, Sorbonne Université, GRC n°19, ConCer-LD, Centre de Référence déficiences intellectuelles de causes rares, Hôpital Armand Trousseau, 75012 Paris, France., Afenjar A; APHP. SU, Centre de Référence Malformations et maladies congénitales du cervelet, département de génétique et embryologie médicale, Hôpital Trousseau, 75012 Paris, France., Steel D; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children, London, UK., Kurian MA; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Neurology, Great Ormond Street Hospital for Children, London, UK., Prabhakar P; Department of Neurology, Great Ormond Street Hospital for Children, London, UK., Gößwein S; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany., Di Donato N; Institute for Clinical Genetics, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Fetscherstrasse 74, 01307 Dresden, Germany., Bertini ES; Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 May 04; Vol. 110 (5), pp. 774-789. Date of Electronic Publication: 2023 Apr 12.

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Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.

Autor: Baris HN; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Barnes-Kedar I; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel., Toledano H; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Department of Pediatric Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel., Halpern M; Department of Pathology, Rabin Medical Center, Hasharon Hospital, Petach Tikva, Israel., Hershkovitz D; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Department of Pathology, Rambam Health Care Campus, Haifa, Israel., Lossos A; Sharett Institute of Oncology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Lerer I; Department of Human Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Peretz T; Sharett Institute of Oncology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Kariv R; Department of Gastroenterology & Liver Disease, Sourasky Medical Center, Tel Aviv, Israel., Cohen S; The Pediatric Gastroenterology Unit, Sourasky Medical Center, Tel Aviv, Israel., Half EE; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.; Department of Gastroenterology, Rambam Health Care Campus, Haifa, Israel., Magal N; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel., Drasinover V; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel., Wimmer K; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Goldberg Y; Sharett Institute of Oncology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Bercovich D; Human Molecular Genetics, Tel Hai College, Israel., Levi Z; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Gastroenterology Division, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.

Publikováno v: Pediatric blood & cancer [Pediatr Blood Cancer] 2016 Mar; Vol. 63 (3), pp. 418-27. Date of Electronic Publication: 2015 Nov 06.

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.

Autor: Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M

Publikováno v: Annals of Neurology; Aug2006, Vol. 60 Issue 2, p214-222, 9p

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