Hum. Mutat. 2020 Jan 30
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility.
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F
Inactivating variants in the centrosomal CEP78 gene have been found in cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct f ...
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Source: PubMed
Hum. Mol. Genet. 2020 Jan 30
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, Bitner-Glindzicz M, Webster AR, Van Wijk E, Moosajee M
USH2A variants are the most common cause of Usher syndrome type 2, characterised by congenital sensorineural hearing loss and retinitis pigmentosa (RP ...
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Source: PubMed
Laryngoscope 2020 Jan 27
Genetic Testing for Congenital Bilateral Hearing Loss in the Context of Targeted Cytomegalovirus Screening.
Peterson J, Nishimura C, Smith RJH
To determine the prevalence of children with genetic hearing loss who are cytomegalovirus (CMV) positive at birth and the relative proportion of genet ...
Read More
Source: PubMed
Ann Emerg Med 2020 Jan 23
Exploring Patient Experience of Chest Pain Before and After Implementation of an Early Rule-Out Pathway for Myocardial Infarction: A Qualitative Study.
Ferry AV, Strachan FE, Stewart SD, Marshall L, Lee KK, Anand A, Shah ASV, Chapman AR, Mills NL, Cunningham-Burley S
High-sensitivity cardiac troponin assays enable myocardial infarction to be excluded in the emergency department (ED). As part of a prospective clinic ...
Read More
Source: PubMed
PLoS ONE
A smartphone-based test for the assessment of attention deficits in delirium: A case-control diagnostic test accuracy study in older hospitalised patients.
Tieges Z, Stott DJ, Shaw R, Tang E, Rutter LM, Nouzova E, Duncan N, Clarke C, Weir CJ, Assi V, Ensor H, Barnett JH, Evans J, Green S, Hendry K, Thomson M, McKeever J, Middleton DG, Parks S, Walsh T, Weir AJ, Wilson E, Quasim T, MacLullich AMJ
Delirium is a common and serious acute neuropsychiatric syndrome which is often missed in routine clinical care. Inattention is the core cognitive fea ...
Read More
Source: PubMed
Hum. Mutat. 2020 Jan 30
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility.
Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F
Inactivating variants in the centrosomal CEP78 gene have been found in cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct f ...
Read More
Source: PubMed
Hum. Mol. Genet. 2020 Jan 30
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, Bitner-Glindzicz M, Webster AR, Van Wijk E, Moosajee M
USH2A variants are the most common cause of Usher syndrome type 2, characterised by congenital sensorineural hearing loss and retinitis pigmentosa (RP ...
Read More
Source: PubMed
Laryngoscope 2020 Jan 27
Genetic Testing for Congenital Bilateral Hearing Loss in the Context of Targeted Cytomegalovirus Screening.
Peterson J, Nishimura C, Smith RJH
To determine the prevalence of children with genetic hearing loss who are cytomegalovirus (CMV) positive at birth and the relative proportion of genet ...
Read More
Source: PubMed
Ann Emerg Med 2020 Jan 23
Exploring Patient Experience of Chest Pain Before and After Implementation of an Early Rule-Out Pathway for Myocardial Infarction: A Qualitative Study.
Ferry AV, Strachan FE, Stewart SD, Marshall L, Lee KK, Anand A, Shah ASV, Chapman AR, Mills NL, Cunningham-Burley S
High-sensitivity cardiac troponin assays enable myocardial infarction to be excluded in the emergency department (ED). As part of a prospective clinic ...
Read More
Source: PubMed
PLoS ONE
A smartphone-based test for the assessment of attention deficits in delirium: A case-control diagnostic test accuracy study in older hospitalised patients.
Tieges Z, Stott DJ, Shaw R, Tang E, Rutter LM, Nouzova E, Duncan N, Clarke C, Weir CJ, Assi V, Ensor H, Barnett JH, Evans J, Green S, Hendry K, Thomson M, McKeever J, Middleton DG, Parks S, Walsh T, Weir AJ, Wilson E, Quasim T, MacLullich AMJ
Delirium is a common and serious acute neuropsychiatric syndrome which is often missed in routine clinical care. Inattention is the core cognitive fea ...
Read More
Source: PubMed
