Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Autor: Lardelli RM; University of California San Diego, La Jolla, California, USA., Schaffer AE; University of California San Diego, La Jolla, California, USA.; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA., Eggens VR; Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Grainger S; Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, California, USA., Sathe S; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA., Van Nostrand EL; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA., Schlachetzki Z; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Rosti B; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Akizu N; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Scott E; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Silhavy JL; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Heckman LD; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Rosti RO; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Dikoglu E; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Gregor A; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Guemez-Gamboa A; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Musaev D; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Mande R; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Widjaja A; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Shaw TL; University of California San Diego, La Jolla, California, USA., Markmiller S; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA., Marin-Valencia I; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA., Davies JH; Department of Paediatric Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK., de Meirleir L; Pediatric Neurology and Metabolic Diseases, Universitair Ziekenhuis Brussels, Vrije Universiteit Brussel, Brussels, Belgium., Kayserili H; Medical Genetics Department, Koc University School of Medicine, Istanbul, Turkey., Altunoglu U; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul Turkey., Freckmann ML; Department of Clinical Genetics, The Canberra Hospital, Woden, Australian Capital Territory, Australia., Warwick L; Australian Capital Territory Genetic Service, The Canberra Hospital, Canberra City, Australian Capital Territory, Australia., Chitayat D; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Blaser S; Division of Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada., Çağlayan AO; Department of Medical Genetics, School of Medicine, Istanbul Bilim University, Istanbul, Turkey.; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Bilguvar K; Department of Genetics, Yale Center for Genome Analysis, Yale University School of Medicine, New Haven, Connecticut, USA., Per H; Division of Pediatric Neurology, Department of Pediatrics, Erciyes University School of Medicine, Kayseri, Turkey., Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Christesen HT; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Kibaek M; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Manchester D; Department of Pediatrics, Clinical Genetics and Metabolism, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA., Matsumoto N; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan., Muramatsu K; Department of Pediatrics, Gunma University School of Medicine, Showa-machi, Maebashi City, Japan., Saitsu H; Department of Human Genetics, Yokohama City University, Graduate School of Medicine, Yokohama, Japan.; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan., Shiina M; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Foulds N; Southampton University Hospitals Trust, Southampton, UK., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Chi NC; UCSD Cardiology, University of California San Diego, La Jolla, California, USA., Traver D; Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, California, USA., Spaccini L; Clinical Genetics Unit, Department of Women, Mother and Neonates, 'Vittore Buzzi' Children's Hospital, Istituti Clinici di Perfezionamento, Milan, Italy., Bova SM; Child Neurology Unit, Department of Pediatrics, 'Vittore Buzzi' Children Hospital, Istituti Clinici di Perfezionamento, Milan, Italy., Gabriel SB; Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA., Gunel M; Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Valente EM; Section of Neurosciences, Department of Medicine and Surgery, University of Salerno, Salerno, Italy., Nassogne MC; Pediatric Neurology, Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Bennett EJ; University of California San Diego, La Jolla, California, USA., Yeo GW; Department of Cellular and Molecular Medicine, Stem Cell Program and Institute for Genomic Medicine, University of California San Diego, La Jolla, California, USA.; Department of Physiology, National University of Singapore and Molecular Engineering Laboratory, A*STAR, Singapore., Baas F; Department of Clinical Genetics, Academic Medical Center, Amsterdam, the Netherlands., Lykke-Andersen J; University of California San Diego, La Jolla, California, USA., Gleeson JG; University of California San Diego, La Jolla, California, USA.; Laboratory of Pediatric Brain Disease and Howard Hughes Medical Institute, The Rockefeller University, New York, New York, USA.

Publikováno v: Nature genetics [Nat Genet] 2017 Mar; Vol. 49 (3), pp. 457-464. Date of Electronic Publication: 2017 Jan 16.

HARNESSING SEA WAVE ENERGY BY A SUBMERGED CYLINDER DEVICE.

Autor: CLARE, R, EVANS, DV, SHAW, TL

Publikováno v: ICE Proceedings; Sep1982, Vol. 73 Issue 3, p565-585, 21p

INFORMAL DISCUSSION. STORM MOVEMENT.

Autor: BERAN, M, FOLLAND, CK, SHAW, TL, LYNN, P, THORPE, GR, KELWAY, PS

Publikováno v: ICE Proceedings; Aug1979, Vol. 66 Issue 3, p509-513, 5p

INFORMAL DISCUSSION. THE PROSPECTS OF TIDAL POWER.

Autor: VAN LOENEN, JH, MUIR WOOD, AM, WHEATER, HS, SKILLMAN, JM, DERRINGTON, JA, GWYNN, JD, SHAW, TL, ACKERS, P, WILSON, EM, KLUTH, J, PEARSALL, IS

Publikováno v: ICE Proceedings; Nov1977, Vol. 62 Issue 4, p701-705, 5p

DISCUSSION. TECHNICAL NOTE. THE ROUNDING OF THE UPSTREAM EDGE OF A BROAD-CRESTED WEIR.

Autor: FRANCIS, JRD, SHAW, TL, SALIH, AMA, WAKHLU, ON

Publikováno v: ICE Proceedings; Jun1972, Vol. 53 Issue 1, p117-121, 5p