Pre- and post-testing counseling considerations for the provision of expanded carrier screening : exploration of European geneticists’ views [PDF]
, 2017 Background: Carrier screening is generally performed with the aim of identifying healthy couples at risk of having a child affected with a monogenic disorder to provide them with reproductive options.
Borry, Pascal +4 more
core +3 more sources
Platelet Levels Associated With Bleeding Risk for Dental Interventions: A Systematic Review
Oral Diseases, EarlyView.ABSTRACT Objectives To evaluate evidence in relation to postoperative bleeding in humans aged ≥ 16 with preoperative platelet counts < 50,000/μL, compared to those above, undergoing dental interventions. Methods Quantitative synthesis without meta‐analysis was conducted through an electronic search conducted on Ovid MEDLINE and Embase from 1946 to ...
Guang Xu David Lim +3 more
wiley +1 more source
Gaucher disease diagnosed after bone marrow trephine biopsy — a report of two cases
Folia Histochemica et Cytobiologica, 2011 The hematologist is at the forefront of specialists to whom patients with Gaucher disease present because of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephine biopsy.
Anna Dmoszyńska +6 more
doaj +1 more source
No Difference in Health Related Quality of Life Between Therapeutic Options for Type 1 Gaucher Disease [PDF]
, 2016 Type 1 Gaucher disease (GD) is the most common lysosomal storage disorder. Previously, treatment for GD was limited to intravenous enzyme replacement therapy (ERT).
Wagner, Victoria
core +1 more source
A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse [PDF]
, 1995 Gaucher mice, created by targeted disruption of the glucocerebrosidase gene, are totally deficient in glucocerebrosidase and have a rapidly deteriorating clinical course analogous to the most severely affected type 2 human patients.
Eliason, W.K. (W.) +10 more
core +1 more source
Periodontology 2000, EarlyView.AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer +4 more
wiley +1 more source
Gaucher disease causing sudden cardiac death
The Egyptian Heart Journal, 2016 A 17-year-old male patient with Gaucher disease was presented to our institution complaining of rapid irregular palpitations. Echocardiography showed the presence of critical aortic stenosis due to Gaucher disease.
Yehia Saleh +4 more
doaj +1 more source
The what, which, when, why and who of Off responses in the auditory system
The Journal of Physiology, EarlyView.Abstract figure legend In this article, we will first review ‘What’ different mechanisms are involved in the generation of Off responses at the sub‐cortical and cortical level of the auditory system. Then, we evaluate ‘Which’ stimulus properties elicit Off responses at the different levels of the auditory system.
Jean‐Marc Edeline, Robert C. Liu
wiley +1 more source
Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations. [PDF]
, 2019 Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation ...
Arrant, Andrew E +12 more
core
Nejire/dCBP-mediated control of H3 acetylation and transcriptional regulation by testis-specific Plus3 domain proteins during Drosophila spermatogenesis [PDF]
, 2018 Spermatogenesis describes the development from germ line stem cells to highly specialized sperm. Drosophila melanogaster spermatogenesis is a good model system for chromatin remodelling processes as many of these processes are similar in mammals and in ...
Hundertmark, Tim
core +1 more source