Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.

Autor: Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France. Electronic address: bertrand.isidor@chu-nantes.fr., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., Hurst A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Vincent M; Service de Génétique Médicale, CHU Nantes, Nantes, France., Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Rudy NL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Mayr J; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Brehm A; Octapharma Biopharmaceuticals GmbH, Berlin, Germany., Bupp C; Spectrum Health Helen DeVos Children's Hospital, Grand Rapids, MI., Warren K; Progenity, Inc, Louisville, KY., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Gerard A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Ranells JD; Department of Pediatrics, University of South Florida, Tampa, FL., Metcalfe KA; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust and Institute of Human Development, University of Manchester, Manchester, United Kingdom., van Bever Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Jiang YH; Department of Genetics, Yale School of Medicine, New Haven, CT; Department of Neurobiology, Duke University School of Medicine, Durham, NC; Department of Pediatrics, Duke University School of Medicine, Durham, NC., Mendelssohn BA; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA., Cope H; Department of Pediatrics, Duke University School of Medicine, Durham, NC., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX., Blackburn PR; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Goodenberger ML; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kearney HM; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kennedy J; Clinical Genetics, University Hospitals Bristol, Bristol, United Kingdom; University of Bristol, Bristol, United Kingdom., Scurr I; Clinical Genetics, University Hospitals Bristol, Bristol, United Kingdom; University of Bristol, Bristol, United Kingdom., Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., de Saint Martin A; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Strasbourg, Strasbourg, France., Alembik Y; Department of Clinical Genetic, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Piton A; Unité de Génétique Moléculaire Strasbourg University Hospital, 1 place de l'Hôpital, Strasbourg Cedex, France., Bruel AL; FHU TRANSLAD, Centre Hospitalier Universitaire Dijon-Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France; Génétique des Anomalies du Développement, Inserm UMR 1231, Université de Bourgogne, Dijon, France; Centre de Génétique et Centre de Référence Déficience Intellectuelle de causes rares, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon, France., Thauvin-Robinet C; UF Innovation en diagnostic génomique des maladies rares, CHU Dijon-Bourgogne, Dijon, France; INSERM UMR1231 GAD, Dijon, France., Strong A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Diderich KEM; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands., Bourgeois D; Laboratoire National de Santé, Dudelange, Luxembourg., Dahan K; Laboratoire National de Santé, Dudelange, Luxembourg., Vignard V; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Bonneau D; Service de Génétique médicale, CHU d'Angers, Angers, France., Colin E; Service de Génétique médicale, CHU d'Angers, Angers, France., Barth M; Pediatric Surgery Department, Hôpital Mère-Enfant, F44093 Nantes, France., Camby C; Pediatric Surgery Department, Hôpital Mère-Enfant, F44093 Nantes, France., Baujat G; Department of Medical Genetics, Necker Enfants Malades Hospital, AP-HP, Paris, France; INSERM U1163, Imagine Institute, Paris Descartes University, Paris, France., Briceño I; Grupo Genética Humana, Facultad de Medicina, Universidad de La Sabana, Chía, Colombia., Gómez A; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá, DC, Colombia., Deb W; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Conrad S; Service de Génétique Médicale, CHU Nantes, Nantes, France., Besnard T; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Bézieau S; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, Greifswald, Germany., Küry S; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France., Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jan; Vol. 24 (1), pp. 179-191. Date of Electronic Publication: 2021 Nov 30.

Role of layilin in regulating mitochondria-mediated apoptosis: a study on B cell lymphoma (BCL)-2 family proteins.

Autor: Arito, Mitsumi¹ (AUTHOR) m-ari@marianna-u.ac.jp, Tsutiya, Atsuhiro¹ (AUTHOR), Sato, Masaaki¹ (AUTHOR), Omoteyama, Kazuki¹ (AUTHOR), Sato, Toshiyuki¹ (AUTHOR), Motonaga, Yusei¹ (AUTHOR), Suematsu, Naoya¹ (AUTHOR), Kurokawa, Manae S.² (AUTHOR), Kato, Tomohiro¹ (AUTHOR)

Publikováno v: BMC Molecular & Cell Biology. 10/25/2024, Vol. 25 Issue 1, p1-11. 11p.

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.

Autor: Riggs ER; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA., Nelson T; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA., Merz A; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA., Ackley T; Michigan Medical Genetics Laboratories (MMGL), University of Michigan, Ann Arbor, MI, USA., Bunke B; EGL Genetics, Tucker, GA, USA., Collins CD; EGL Genetics, Tucker, GA, USA.; Perkin Elmer Genomics, Branford, CT, USA., Collinson MN; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, Wiltshire, UK., Fan YS; University of Miami Miller School of Medicine, Miami, FL, USA., Goodenberger ML; Genomics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Golden DM; Human Genetics Laboratory, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA., Haglund-Hazy L; Michigan Medical Genetics Laboratories (MMGL), University of Michigan, Ann Arbor, MI, USA., Krgovic D; University Medical Centre Maribor, Laboratory of Medical Genetics, Maribor, Slovenia.; Faculty of Medicine, University of Maribor, Maribor, Slovenia., Lamb AN; ARUP Laboratories, Salt Lake City, UT, USA.; University of Utah, Salt Lake City, UT, USA., Lewis Z; ARUP Laboratories, Salt Lake City, UT, USA., Li G; GeneDx, Gaithersburg, MD, USA., Liu Y; Clinical Cytogenomics Laboratory, Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA., Meck J; GeneDx, Gaithersburg, MD, USA., Neufeld-Kaiser W; Clinical Cytogenomics Laboratory, Department of Pathology, University of Washington School of Medicine, Seattle, WA, USA., Runke CK; Genomics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Sanmann JN; Human Genetics Laboratory, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA., Stavropoulos DJ; Genome Diagnostics, The Hospital for Sick Children, University of Toronto, Canada., Strong E; Genome Diagnostics, The Hospital for Sick Children, University of Toronto, Canada., Su M; University of Miami Miller School of Medicine, Miami, FL, USA., Tayeh MK; Michigan Medical Genetics Laboratories (MMGL), University of Michigan, Ann Arbor, MI, USA., Kokalj Vokac N; University Medical Centre Maribor, Laboratory of Medical Genetics, Maribor, Slovenia.; Faculty of Medicine, University of Maribor, Maribor, Slovenia., Thorland EC; Genomics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Andersen E; ARUP Laboratories, Salt Lake City, UT, USA.; University of Utah, Salt Lake City, UT, USA., Martin CL; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.

Publikováno v: Human mutation [Hum Mutat] 2018 Nov; Vol. 39 (11), pp. 1650-1659.

Noninvasive prediction of CCL2 expression level in high‐grade glioma patients.

Autor: Zhou, Qingqing¹ (AUTHOR), Wang, Yamei² (AUTHOR), Zhang, Qing³ (AUTHOR), Wei, XiaoMing¹ (AUTHOR), Yao, Yuan¹ (AUTHOR) 49246670@qq.com, Xia, Liang⁴ (AUTHOR) xialiang@zjcc.org.cn

Publikováno v: Cancer Medicine. Jul2024, Vol. 13 Issue 14, p1-15. 15p.

What Changed in CNS5? A Mini-Review on General Changes and Adult Diffuse Gliomas.

Autor: Chakrabarti, Indranil¹ (AUTHOR) drinch@rediffmail.com, Mazumder, Sujaya¹ (AUTHOR)

Publikováno v: Annals of African Medicine. Jul-Sep2024, Vol. 23 Issue 3, p255-261. 7p.