Mycobacterium xenopi Genotype Associated with Clinical Phenotype in Lung Disease
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DOI: 10.1007/s00408-018-0087-9
Abstract: Mycobacterium xenopi is responsible for pulmonary disease (PD) in Europe and Canada. Despite its high prevalence and increasing clinical importance, little is known about the genetic diversity of M. xenopi. Through a prospective study for… read more here.
Keywords: mycobacterium xenopi; clinical phenotype; lung disease; disease ... See more keywords
Splicing in two skeletal muscle transcripts correlates with clinical phenotype in myotonic dystrophy type 1 patients
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neurology"
DOI: 10.1007/s00415-021-10917-8
Abstract: Myotonic dystrophy type 1 (DM1), an autosomal dominant inherited disease, is the most common form of adult-onset muscular dystrophy with a prevalence of 1 in 8000 worldwide and no disease-modifying treatment is currently available [1].… read more here.
Keywords: clinical phenotype; muscle; myotonic dystrophy; dystrophy type ... See more keywords
Comparison of clinical phenotype with genetic and laboratory results in 31 patients with congenital dysfibrinogenemia in northern Slovakia
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Hematology"
DOI: 10.1007/s12185-020-02842-9
Abstract: Congenital dysfibrinogenemia (CD) is a rare disorder of hemostasis. The majority of cases are caused by heterozygous missense mutations in one of the three fibrinogen genes. Patients with CD may experience bleeding and thrombosis, but… read more here.
Keywords: comparison clinical; clinical phenotype; congenital dysfibrinogenemia; laboratory ... See more keywords
Clinical phenotype of adult offspring carriers of the p.Pro392Leu mutation within the SQSTM1 gene in Paget's disease of bone
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DOI: 10.1016/j.bonr.2020.100717
Abstract: Paget's disease of bone (PDB) is a common chronic bone disorder. In the French-Canadian population, the p.Pro392Leu mutation within the SQSTM1 gene is involved in 46% of familial forms. In New Zealand, the emergence of… read more here.
Keywords: pro392leu mutation; offspring carriers; clinical phenotype; adult offspring ... See more keywords
BCL11B-related disorder in two canadian children: Expanding the clinical phenotype.
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DOI: 10.1016/j.ejmg.2020.104007
Abstract: The product of the BCL11B (B-Cell Leukemia 11) gene is a bi-functional transcriptional regulator that can act as either a repressor or an activator. It plays an important role in the development of the nervous,… read more here.
Keywords: related disorder; clinical phenotype; bcl11b; disorder ... See more keywords
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies
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DOI: 10.1016/j.ophtha.2017.12.013
Abstract: Purpose To investigate and describe in detail the demographics, functional and anatomic characteristics, and clinical course of Leber congenital amaurosis (LCA) associated with mutations in the CEP290 gene (LCA-CEP290) in a large cohort of adults… read more here.
Keywords: mutations cep290; clinical phenotype; leber congenital; congenital amaurosis ... See more keywords
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
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DOI: 10.1080/13816810.2021.1946704
Abstract: Atypical Usher syndrome (USH) is poorly defined with a broad clinical spectrum. Here, we characterize the clinical phenotype of disease caused by variants in CEP78, CEP250, ARSG, and ABHD12.Chart review evaluating demographic, clinical, imaging, and… read more here.
Keywords: phenotype; disease causing; clinical phenotype; atypical usher ... See more keywords
Clinical Phenotype of Tardive Dyskinesia in Bipolar Disorder.
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DOI: 10.1097/jcp.0000000000001532
Abstract: PURPOSE Recognizing the negative impact that antipsychotic-induced movement disorders have on the quality of life and treatment outcomes in bipolar disorder (BD), this study aimed to assess clinical correlates and antipsychotic use patterns of tardive… read more here.
Keywords: phenotype tardive; tardive dyskinesia; bipolar disorder; clinical phenotype ... See more keywords
Autoantibodies in acquired myasthenia gravis: Clinical phenotype and immunological correlation
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DOI: 10.1111/ane.13071
Abstract: Data on antibody profile in myasthenia gravis (MG) from India are limited. read more here.
Keywords: gravis clinical; clinical phenotype; myasthenia; acquired myasthenia ... See more keywords
A unique clinical phenotype of a patient bearing a newly identified deletion mutation in the PSENEN gene along with the pathogenic serum desmoglein‐1 antibody
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DOI: 10.1111/ced.13326
Abstract: these cells were strongly positive for CD123, CD138, CD33 and myeloperoxidase, which are markers that are frequently expressed on leukaemia blast cells (Fig. 2b–d). A bone marrow biopsy confirmed the suspected diagnosis of AML (subtype… read more here.
Keywords: blast cells; phenotype patient; clinical phenotype; bearing newly ... See more keywords
Prolactinomas diagnosed in the postmenopausal period: Clinical phenotype and outcomes
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DOI: 10.1111/cen.13399
Abstract: Most prolactinomas in females are diagnosed during the reproductive age, and the majority are microadenomas. Prolactinomas detected in the postmenopausal period are less common with limited published data on their presentation and prognosis. Our objective… read more here.
Keywords: clinical phenotype; diagnosed postmenopausal; period; period clinical ... See more keywords