A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Behavior"
DOI: 10.1002/brb3.1416
Abstract: Adrenomyeloneuropathy (AMN) is a rare genetic disease. In this study, a case of AMN was uncovered in a Chinese family. read more here.
Keywords: chinese family; family; novel abcd1; abcd1 gene ... See more keywords
Gene mutation analysis using next‐generation sequencing and its clinical significance in patients with myeloid neoplasm: A multi‐center study from China
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Medicine"
DOI: 10.1002/cam4.5690
Abstract: Myeloid neoplasms (MN) tend to relapse and deteriorate. Exploring the genomic mutation landscape of MN using next‐generation sequencing (NGS) is a great measure to clarify the mechanism of oncogenesis and progression of MN. read more here.
Keywords: gene mutation; next generation; using next; generation sequencing ... See more keywords
Landscape of gene mutation in Chinese thyroid cancer patients: Construction and validation of lymph node metastasis prediction model based on clinical features and gene mutation marker.
Sign Up to like & getrecommendations! Published in 2023 at "Cancer medicine"
DOI: 10.1002/cam4.5945
Abstract: OBJECTIVES Reporting the clinicopathological information of thyroid cancer (TC) patients from a central medical center of east China, and constructing the nomogram predicting lymph node metastasis (LNM). METHODS We collected the patients who underwent thyroid… read more here.
Keywords: mutation; thyroid cancer; gene mutation; lymph node ... See more keywords
Suitability of Long‐Term Frozen Rat Blood Samples for the Interrogation of Pig‐a Gene Mutation by Flow Cytometry
Sign Up to like & getrecommendations! Published in 2019 at "Environmental and Molecular Mutagenesis"
DOI: 10.1002/em.22249
Abstract: The rodent blood Pig‐a assay has been undergoing international validation for use as an in vivo hematopoietic cell gene mutation assay, and given the promising results an Organization for Economic Co‐operation and Development (OECD) Test… read more here.
Keywords: pig; rat blood; blood samples; blood ... See more keywords
Genetic diagnosis for X‐linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.22593
Abstract: To make a gene diagnosis for a family with Ectodysplasin A (EDA) gene mutation as well as prenatal diagnosis, and report a novel EDA gene mutation. read more here.
Keywords: novel; diagnosis; family; gene mutation ... See more keywords
Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.22665
Abstract: Tetrahydrobiopterin (BH4) deficiency is an autosomal recessive disorder, which is caused by an enzyme deficiency involved in its synthetic or metabolic pathways. Clinical symptoms may include microcephaly, hypoevolutism, severe ataxia, and seizures. The purposes of… read more here.
Keywords: mutation pedigree; analysis; gene mutation; deficiency ... See more keywords
Alpha‐globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23018
Abstract: It is estimated about 7% of the world population is carriers of hemoglobin diseases. Alpha‐thalassemia is one of the most common hereditary hemoglobin disorders in the world. This study investigated alpha‐globin mutations in potential carriers… read more here.
Keywords: anemia mazandaran; gene mutation; globin gene; alpha globin ... See more keywords
A novel WT1 gene mutation in a chinese girl with denys‐drash syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23769
Abstract: Denys‐Drash syndrome (DDS) is defined by the triad of Wilms tumor, nephrotic syndrome, and/or ambiguous genitalia. Genetic testing may help identify new gene mutation sites and play an important role in clinical decision‐making. read more here.
Keywords: gene mutation; denys drash; drash syndrome;
Indirect evaluation of amyloid deposition by ultrasonography and its relationship with MEFV gene mutation in FMF patients
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Ultrasound"
DOI: 10.1002/jcu.23409
Abstract: The most significant complication in familial mediterranean fever (FMF) patients is dysfunction and organ failure developing depending on amyloid deposition in organs. The golden standard for showing amyloid deposition is the biopsy; however, tissue stiffness… read more here.
Keywords: fmf patients; gene mutation; deposition; relationship mefv ... See more keywords
Interictal Headache, Pseudodystonia, and Persistent Ataxia in Episodic Ataxia Type 1 Due to a Novel KCNA1 Gene Mutation
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13381
Abstract: We report a case to broaden our understanding of the unusual phenotypical spectrum of rare genetic ataxia. A 33-year old woman presented with intermittent episodes of periorbital twitching for the last 30 years and episodic… read more here.
Keywords: kcna1 gene; dizzy spells; ataxia; mutation ... See more keywords
Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2002
Abstract: The molecular mutations of the L1CAM gene and the imaging appearances of four fetuses with L1 syndrome from three independent Chinese families with a history of hydrocephalus were reported in this study. Two of the… read more here.
Keywords: gene mutation; syndrome three; analysis l1cam; chinese families ... See more keywords