Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Gemma Poke"'
Autor:
Natascia Malerba, Patrizia Benzoni, Gabriella Maria Squeo, Raffaella Milanesi, Federica Giannetti, Lynette G. Sadleir, Gemma Poke, Bartolomeo Augello, Anna Irma Croce, Andrea Barbuti, Giuseppe Merla
Publikováno v:
Stem Cell Research, Vol 40, Iss , Pp - (2019)
GNB5 loss-of-function pathogenic variants cause IDDCA, a rare autosomal recessive human genetic disease characterized by infantile onset of intellectual disability, sinus bradycardia, hypotonia, visual abnormalities, and epilepsy. We generated human
Externí odkaz:
https://doaj.org/article/7e6ca3fb95ff4982867323666b32b676
Publikováno v:
Case Reports in Neurological Medicine, Vol 2018 (2018)
Episodic ataxia is a heterogenous group of uncommon neurological disorders characterised by recurrent episodes of vertigo, dysarthria, and ataxia for which a variety of different genetic variations have been implicated. Episodic ataxia type two (EA2)
Externí odkaz:
https://doaj.org/article/0fce992283a44637bfad6b8c3908da0f
Autor:
Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, Carolyn Jane Ellaway, Caitlin Forwood, Michael Stephen Hildebrand, Smitha Kumble, Colina McKeown, David Mowat, Gemma Poke, Sulekha Rajagopalan, Brigid M. Regan, Ingrid Eileen Scheffer, Zornitza Stark, Chloe Alice Stutterd, Tiong Yang Tan, Ella Jane Wilkins, Alison Yeung, Matthew Frank Hunter
Publikováno v:
American Journal of Medical Genetics Part A. 188:3432-3447
Verheij syndrome (VRJS) is a rare craniofacial spliceosomopathy presenting with craniofacial dysmorphism, multiple congenital anomalies and variable neurodevelopmental delay. It is caused by single nucleotide variants (SNVs) in PUF60 or interstitial
Publikováno v:
Neurology
Background and ObjectivesWe aimed to determine the population-based cumulative incidence and prevalence of developmental and epileptic encephalopathies (DEEs) and intellectual disability and epilepsy (ID+E) in children. We analyzed the cumulative inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::007ae93b2794d19b6e776a32cc34b401
https://europepmc.org/articles/PMC10065214/
https://europepmc.org/articles/PMC10065214/
Autor:
Russell Gear, Gemma Poke, Katherine Neas, Jacqui Finnigan, Sharon Cassidy, Deanna Forsyth, Mo Blishen, Diana Purvis
Publikováno v:
Australasian Journal of Dermatology. 63:62-67
To establish the epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa (EB) in New Zealand (NZ).Participants were recruited through the Dystrophic Epidermolysis Bullosa Research Association of New Zealand (DEBRA
Autor:
Gina L. O'Grady, Alice Theadom, Miriam Rodrigues, Annemarei Ranta, Priya Parmar, Gemma Poke, Richard Roxburgh, Donald R. Love, Braden Te Ao, Kelly Jones, Graeme Hammond-Tooke
Publikováno v:
Quality of Life Research. 31:1657-1666
OBJECTIVES To determine the impact of genetic muscle disorders and identify the sociodemographic, illness, and symptom factors influencing quality of life. METHODS Adults (aged 16-90 years) with a confirmed clinical or molecular diagnosis of a geneti
Autor:
Morad Ansari, Mihail Halachev, David Parry, Jose L. Campos, Elston N. D’Souza, Christopher Barnett, Andrew O. M. Wilkie, Angela Barnicoat, Chirag V. Patel, Elena Sukarova-Angelovska, Katta M. Girisha, Helen V. Firth, Katrina Prescott, Louise C. Wilson, Meriel McEntagart, Rosemarie Davidson, Sally Ann Lynch, Shelagh Joss, Simon T. Holden, Wayne K. Lam, Sanjay M. Sisodiya, Andrew J. Green, Gemma Poke, Nicola Whiffin, David R. FitzPatrick, Alison Meynert
AimsThis study assesses the diagnostic utility of whole genome sequence analysis in a well-characterised research cohort of individuals referred with a clinical suspicion of Cornelia de Lange syndrome (CdLS) in whom prior genetic testing had not iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::658ddd56bd89aab50f38913ae70df264
https://doi.org/10.1101/2022.09.18.22277970
https://doi.org/10.1101/2022.09.18.22277970
Autor:
Mamdouh Aker, Donna M. Muzny, Jessica E. Rexach, Kathie J. Ngo, Brent L. Fogel, Eric Boerwinkle, Gemma Poke, James R. Lupski, Michael D. Geschwind, Yuanming Mao, Hane Lee, Alexandra B. Nelson, Stanley F. Nelson, Katherine Neas, Jennifer E. Posey, Sharon Hassin-Baer, Juliana M. Valera, Zeynep Coban-Akdemir, Joshua L. Deignan, Wayne W. Grody, Richard A. Gibbs, Jennifer E. Below, Lauren E. Petty, Daniel H. Geschwind, Shalini N. Jhangiani, Susan Perlman
Publikováno v:
Hum Mutat
Human mutation, vol 41, iss 2
Human mutation, vol 41, iss 2
Genetic ataxias are associated with mutations in hundreds of genes with high phenotypic overlap complicating the clinical diagnosis. Whole-exome sequencing (WES) has increased the overall diagnostic rate considerably. However, the upper limit of this
Autor:
Alice, Theadom, Miriam, Rodrigues, Annemarei, Ranta, Gemma, Poke, Donald, Love, Kelly, Jones, Braden Te, Ao, Graeme, Hammond-Tooke, Priya, Parmar, Gina, O'Grady, Richard, Roxburgh
Publikováno v:
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation. 31(6)
To determine the impact of genetic muscle disorders and identify the sociodemographic, illness, and symptom factors influencing quality of life.Adults (aged 16-90 years) with a confirmed clinical or molecular diagnosis of a genetic muscle disorder id
Publikováno v:
Journal of Genetic Counseling. 28:1029-1041
Family communication about genetic information enables informed medical and reproductive decision-making. The literature suggests that a significant proportion of genetically at-risk family members remain uninformed about genetic risk information as