Search
Search Results
-
Genome-wide loss of heterozygosity predicts aggressive, treatment-refractory behavior in pituitary neuroendocrine tumors
Pituitary neuroendocrine tumors (PitNETs) exhibiting aggressive, treatment-refractory behavior are the rare subset that progress after surgery,...
-
P53 loss of heterozygosity (LOH) in formalin-fixed paraffin-embedded leiomyosarcoma (LMS): a novel report
BackgroundThe occurrence of p53 loss of heterozygosity (LOH) is a common genetic event in malignancy. LOH occurs when a heterozygous locus loses one...
-
Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy
Hypertrophic and dilated cardiomyopathy (HCM, DCM) are leading causes of cardiovascular morbidity and mortality in children. The pseudokinase...
-
Drivers of genomic loss of heterozygosity in leiomyosarcoma are distinct from carcinomas
Leiomyosarcoma (LMS) is a rare, aggressive, mesenchymal tumor. Subsets of LMS have been identified to harbor genomic alterations associated with...
-
Synchronous thyroid cancer and malignant struma ovarii: concordant mutations and microRNA profile, discordant loss of heterozygosity loci
BackgroundStruma ovarii is an unusual ovarian teratoma containing predominantly thyroid tissue. Less than 10% of cases undergo malignant...
-
Characteristics of Chinese breast cancer patients with double heterozygosity for BRCA1 and BRCA2 germline pathogenic variants
PurposeDespite of very rare, breast cancer patients with double heterozygosity (DH) variants in BRCA1 and BRCA2 genes have been identified in other...
-
Cerebral venous thrombosis with hyperhomocysteinemia due to loss of heterozygosity at methylenetetrahydrofolate reductase (MTHFR) locus: a case report
BackgroundLoss of heterozygosity (LOH) at methylenetetrahydrofolate reductase ( MTHFR ) locus has been reported in tumor tissue. But the mutation was...
-
CFTR heterozygosity in severe asthma with recurrent airway infections: a retrospective review
RationalePatients with asthma who have neutrophilic bronchitis may have an underlying cause leading to increased susceptibility to airway infections.
...
-
Myxoid pleomorphic liposarcoma is distinguished from other liposarcomas by widespread loss of heterozygosity and significantly worse overall survival: a genomic and clinicopathologic study
Myxoid pleomorphic liposarcoma (MPLPS) is a recently described and extremely rare subtype of liposarcoma with a predilection for the mediastinum....
-
The first case of intellectual disability caused by novel compound heterozygosity for NUDT2 variants
NUDT2 is an enzyme important for maintaining the intracellular level of the diadenosine tetraphosphate (Ap4A). Bi-allelic loss of function variants...
-
Verification of a loss of heterozygosity at the D8S1179 locus in a paternity case by the MiSeq FGx system
Capillary electrophoresis is widely used to study short tandem repeats (STRs) in forensic genetics. However, next-generation sequencing platforms...
-
-
Compound heterozygosity for hemoglobin S and hemoglobin E in a family of Proto-Australoid origin: a case report
BackgroundHemoglobin S and E are commonly occurring hemoglobin variants among distinctly separate tribal populations of Central and Northeast India,...
-
Clinical relevance of double heterozygosity revealed by next-generation sequencing of homologous recombination repair pathway genes in South African breast cancer patients
PurposeGenetically predisposed breast cancer (BC) patients represent a minor but clinically meaningful subgroup of the disease, with 25% of all cases...
-
Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants
BackgroundCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the...
-
Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II
Congenital dyserythropoietic anemia type II (CDA II), a rare genetic disorder, results from SEC23B gene mutations according to previous studies....
-
Low heterozygosity for rs3811050, a 5 prime untranslated region variant of the gene encoding interleukin-38 (IL1F10), is associated with a reduced risk of systemic lupus erythematosus
BackgroundInterleukin-38 (IL-38), an inflammatory cytokine discovered in recent years, has been implicated in the pathogenesis of systemic lupus...
-
-
Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations
PurposeThe co-occurrence or double heterozygosity of pathogenic/likely pathogenic sequence variants (P/LPSVs) in major cancer susceptibility genes...
-
Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report
BackgroundIdiopathic hypogonadotropic hypogonadism (IHH) is a rare congenital or acquired genetic disorder caused by gonadotropin-releasing hormone...
