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Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome.

Autor: Steele JL; University of Connecticut School of Medicine, Farmington, Connecticut., Morrow MM; GeneDx, Inc., Gaithersburg, Maryland., Sarnat HB; Departments of Paediatrics, Pathology (Neuropathology), and Clinical Neurosciences, University of Calgary Cumming School of Medicine and Alberta Children's Hospital Research Institute, Calgary, Alberta, Canada., Alkhunaizi E; Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Brandt T; GeneDx, Inc., Gaithersburg, Maryland., Chitayat DA; Department of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., DeFilippo CP; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, University of California-Davis, Sacramento, California., Douglas GV; GeneDx, Inc., Gaithersburg, Maryland., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Elloumi HZ; GeneDx, Inc., Gaithersburg, Maryland., Glassford MR; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, C. S. Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan., Hannibal MC; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, C. S. Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan., Héron B; Hôpital Armand Trousseau, Service de Neurologie Pédiatrique, Paris, France., Kim LE; Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, Ontario, Canada., Marco EJ; Department of Neurodevelopmental Medicine, CorticaCare, San Diego, California., Mignot C; Clinical Genetic Department, Pitié Salpétrière University Hospital, Paris, France., Monaghan KG; GeneDx, Inc., Gaithersburg, Maryland., Myers KA; Division of Neurology, Department of Pediatrics, McGill University Health Centre, Montreal, Canada., Parikh S; Department of Mitochondrial Medicine & Genetics, Cleveland Clinic, Cleveland, Ohio., Quinonez SC; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, C. S. Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan., Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts., Shankar SP; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, University of California-Davis, Sacramento, California., Shinawi MS; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri., van de Kamp JJP; Clinical Genetics, Amsterdam University Medical Centers, Amsterdam Netherlands., Veerapandiyan A; Division of Neurology, Department of Pediatrics, Arkansas Children's Hospital, Little Rock, Arkansas., Waldman AT; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Graf WD; Division of Neurology, Department of Pediatrics, Connecticut Children's, University of Connecticut, Farmington, Connecticut. Electronic address: wgraf@connecticutchildrens.org.

Publikováno v: Pediatric neurology [Pediatr Neurol] 2022 Jan; Vol. 126, pp. 65-73. Date of Electronic Publication: 2021 Oct 18.

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

Autor: Shen W; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah.; ARUP Laboratories, Salt Lake City, Utah., Heeley JM; Mercy Kids Genetics, Mercy Hospital St. Louis, St Louis, Missouri., Carlston CM; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah.; ARUP Laboratories, Salt Lake City, Utah., Acuna-Hidalgo R; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Nillesen WM; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Dent KM; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah., Douglas GV; GeneDx, Gaithersburg, Maryland., Levine KL; GeneDx, Gaithersburg, Maryland., Bayrak-Toydemir P; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah.; ARUP Laboratories, Salt Lake City, Utah., Marcelis CL; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri., Carey JC; Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2017 Nov; Vol. 173 (11), pp. 3022-3028. Date of Electronic Publication: 2017 Sep 21.

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

Autor: Flex E; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Cecchetti S; Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome 00161, Italy., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA., Au MG; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Capuano A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Piermarini E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Ivanova AA; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA., Francis JW; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA., Chillemi G; CINECA, SCAI-SuperComputing Applications and Innovation Department, Rome 00185, Italy., Chandramouli B; Scuola Normale Superiore, 56126 Pisa, Italy., Carpentieri G; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy; Dipartimento di Medicina Sperimentale, Sapienza Università di Roma, Rome 00161, Italy., Haaxma CA; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 1105, the Netherlands., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Centro di Ricerca per gli alimenti e la nutrizione, CREA, Rome 00178, Italy., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Douglas GV; GeneDx, Gaithersburg, MD 20877, USA., Levine K; GeneDx, Gaithersburg, MD 20877, USA., Sferra A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Dentici ML; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Pfundt RR; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 1105, the Netherlands., Le Pichon JB; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, MO 64108, USA., Farrow E; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam 1105, the Netherlands., Piemonte F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA., Bertini E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Kahn RA; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 1105, the Netherlands., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy. Electronic address: marco.tartaglia@opbg.net.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2016 Oct 06; Vol. 99 (4), pp. 962-973. Date of Electronic Publication: 2016 Sep 22.

Using High Fluoride Concentration Products in Public Policy: A Rapid Review of Current Guidelines for High Fluoride Concentration Products.

Autor: Douglas GV; University of Leeds School of Dentistry, Leeds, UK., Ramsdale MP, Vinall-Collier K, Csikar JI

Publikováno v: Caries research [Caries Res] 2016; Vol. 50 Suppl 1, pp. 50-60. Date of Electronic Publication: 2016 Apr 22.