Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient.

Autor: Chan MR, Thomas CP, Torrealba JR, Djamali A, Fernandez LA, Nishimura CJ, Smith RJ, Samaniego MD, Chan, Micah R, Thomas, Christie P, Torrealba, Jose R, Djamali, Arjang, Fernandez, Luis A, Nishimura, Carla J, Smith, Richard J H, Samaniego, Millie D

Publikováno v: American Journal of Kidney Diseases; Feb2009, Vol. 53 Issue 2, p321-326, 6p

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

Autor: Bowles B; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Ferrer A; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Nishimura CJ; Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Rey T; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.; Laboratoires de Diagnostic génétique, Pôle de Biologie, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace, Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Illkirch, France., Leheup B; Département de Médecine Infantile, CHRU de Nancy, Nancy, France., Sullivan J; Department of Pediatrics, Duke University, Durham, North Carolina, USA., Schoch K; Department of Pediatrics, Duke University, Durham, North Carolina, USA., Stong N; Institute for Genomic Medicine, Columbia University, New York, New York, USA.; Brystol Myers Squibb, New York, New York, USA., Agolini E; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cocciadiferro D; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Williams A; Department of Pediatrics, East Tennessee Children's Hospital, Knoxville, Tennessee, USA., Cummings A; Department of Pediatrics, East Tennessee Children's Hospital, Knoxville, Tennessee, USA.; University of Wisconsin Hospitals and Clinics, Madison, Wisconsin, USA., Loddo S; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Genovese S; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Roadhouse C; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada., McWalter K; GeneDx Inc., Gaithersburg, Maryland, USA., Wentzensen IM; GeneDx Inc., Gaithersburg, Maryland, USA., Li C; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada., Babovic-Vuksanovic D; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Dentici ML; Genetics and Rare Diseases Research Division, Molecular Genetics and Functional Genomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ankala A; EGL Genetics LLC, Tucker, Georgia, USA.; Emory University School of Medicine, Atlanta, Georgia, USA., Hamm JA; Department of Pediatrics, East Tennessee Children's Hospital, Knoxville, Tennessee, USA., Dallapiccola B; Genetics and Rare Diseases Research Division, Molecular Genetics and Functional Genomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Radio FC; Genetics and Rare Diseases Research Division, Molecular Genetics and Functional Genomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Shashi V; Department of Pediatrics, Duke University, Durham, North Carolina, USA., Gérard B; Laboratoires de Diagnostic génétique, Pôle de Biologie, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace, Strasbourg, France., Bloch-Zupan A; Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.; Centre de référence des maladies rares orales et dentaires O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network CRANIO, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Hôpitaux Universitaires de Strasbourg (HUS), Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS-UMR7104, Université de Strasbourg, Illkirch, France., Smith RJ; Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2417-2433. Date of Electronic Publication: 2021 May 27.

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.

Autor: Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA, USA., Ghaffar A; Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA., Rashid M; Jinnah Burn and Reconstructive Surgery Centre, Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan., Hovey LT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA., Hussain M; Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA., Frees K; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA., Renkes EM; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA., Nishimura CJ; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA., Shahzad M; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan., Smith RJ; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA., Ahmed Z; Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA. hela-azaiez@uiowa.edu., Riazuddin S; Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.

Publikováno v: Human genetics [Hum Genet] 2020 Dec; Vol. 139 (12), pp. 1565-1574. Date of Electronic Publication: 2020 Jun 19.