Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Jessica N. Hartley"'
Publikováno v:
Case Reports in Pediatrics, Vol 2012 (2012)
Recessive mutations in genes encoding mitochondrial DNA replication machinery lead to mitochondrial DNA depletion syndromes. This genetically and phenotypically heterogeneous group includes infantile onset spinocerebellar ataxia (OMIM# 271245) a neur
Externí odkaz:
https://doaj.org/article/f40c9e2bd7c0438b9f7d413df627bf9d
Publikováno v:
Journal of Genetic Counseling. 31:1183-1192
In recent years, genetic (counseling) assistants have been integrated in the genetics workforce, such that one-third of genetic counselors now report working with a genetic assistant. While several studies showed that adoption of the genetic assistan
Autor:
Selina Casalino, Sharon Bruce, Kim Serfas, Alon D. Altman, Sarah Kean, Pascal Lambert, Kirk J. McManus, Jessica N. Hartley, Mark W. Nachtigal
Publikováno v:
Journal of Genetic Counseling.
Autor:
Glen D. Thomson, Olga Calabrese, Hong Cui, Sandra Chantot Bastaraud, Frances Elmslie, Renee Carroll, Agnès Guët, Sandra Whalen, Anne Slavotinek, Thierry Billette de Villemeur, Vishal Kumar, Brian Kirmse, Patrick Yap, Elise Brischoux-Boucher, Florence Riccardi, Jenny Morton, Carroll Jennifer, Jonathan Levy, Manoelle Kossorotoff, Alessandro Mauro Spinelli, Elisabeth Forsythe, Annelies Dheedene, Anne McCabe, Cecile Cieuta Walti, Jozef Gecz, Anne Claude Tabet, Laurent Villard, Cyril Mignot, Kristen V. Truxal, Jessica N. Hartley, Annick Raas-Rothschild, Jillian R Ozmore, Marie Shaw, Jan Liebelt, Delphine Héron, Patrick Frosk, Benjamin Kamien, Jane A. Hurst, Antonella Pini
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00821-0⟩
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩
Eur J Hum Genet
European journal of human genetics : EJHG, vol 29, iss 9
European journal of human genetics, 29(9), 1405-1417. Nature Publishing Group
European Journal of Human Genetics, Nature Publishing Group, 2021, ⟨10.1038/s41431-021-00821-0⟩
European Journal of Human Genetics, 2021, ⟨10.1038/s41431-021-00821-0⟩
Eur J Hum Genet
European journal of human genetics : EJHG, vol 29, iss 9
European journal of human genetics, 29(9), 1405-1417. Nature Publishing Group
International audience; The BCAP31 gene, located at Xq28, encodes BAP31, which plays a role in ER-to-Golgi anterograde transport. To date, BCAP31 pathogenic variants have been reported in 12 male cases from seven families (six loss of function (LoF)
Autor:
Juan Pablo Appendino, Aizeddin A. Mhanni, Cheryl R. Greenberg, Jessica N. Hartley, Tyler Peikes
Publikováno v:
Genetics and Genomics. :1-7
CDKL5 Deficiency Disorder (CDD) or CDKL5-associated epileptic encephalopathy (CAEE) is a distinct X-linked dominant epileptic encephalopathy that shares many features with Rett syndrome. In the past decade, mutations in CDKL5 gene were identified as
Autor:
Aizeddin A. Mhanni, Tyler Peikes, Jessica N. Hartley, Juan Pablo Appendino, Cheryl R. Greenberg
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46:482-485
Autor:
Kelsey Uminski, Jing Liu, Sara J. Israels, Geoffrey D.E. Cuvelier, Donald S. Houston, Jessica N. Hartley
Publikováno v:
Pediatric Blood & Cancer. 67
Background Congenital sideroblastic anemia (CSA) constitutes an uncommon category of inherited anemia often associated with pathologic iron accumulation. Pathogenic variants in several genes have been identified as causative for CSA. Autosomal recess
Publikováno v:
American Journal of Medical Genetics Part A. 179
Publikováno v:
American journal of medical genetics. Part A. 179(2)
Autosomal recessive PRUNE1 mutations are reported to cause a severe neurodevelopmental disorder with microcephaly, hypotonia, and brain malformations. We describe clinical and neuropathological features in a cohort of nine individuals of Cree descent
Autor:
Mariya Kozenko, Jessica N. Hartley, Mark Deneau, Aziz Mhanni, Wael El-Matary, Cheryl Rockman-Greenberg
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 6, Iss C, Pp 13-15 (2016)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Gaucher disease (OMIM #230800) is caused by β-glucosidase deficiency and primarily involves the mononuclear phagocyte system (also called Reticuloendothelial System or Macrophage System). The disease is classified into three main phenotypes based on