Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51543
Abstract: Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of diseases characterized by exclusive degeneration of peripheral motor nerves, while only 20.0–47.8% of dHMN patients are genetically identified. Recently, GGC expansion in the 5’UTR of… read more here.
Keywords: genetic spectrum; hereditary motor; distal hereditary; motor ... See more keywords
Genetic spectrum and clinical features of adult leukoencephalopathies in a Chinese cohort.
Sign Up to like & getrecommendations! Published in 2023 at "Annals of clinical and translational neurology"
DOI: 10.1002/acn3.51794
Abstract: OBJECTIVE Leukoencephalopathies are a group of heterogeneous disorders characterized by the degeneration of white matter, resulting in a variety of progressive neurological symptoms. To date, over 60 genes linked to genetic leukoencephalopathies have been discovered… read more here.
Keywords: genetic spectrum; spectrum clinical; adult leukoencephalopathies; different populations ... See more keywords
Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles
Sign Up to like & getrecommendations! Published in 2019 at "Andrology"
DOI: 10.1111/andr.12592
Abstract: Congenital absence of vas deferens (CAVD) is a major cause of obstructive azoospermia. Mutations in CFTR and ADGRG2 are responsible for this disease. However, until now the genetic spectrum of the CFTR and ADGRG2 genes… read more here.
Keywords: congenital absence; vas deferens; genetic spectrum; absence vas ... See more keywords
Genetic spectrum of Kallmann syndrome: Single‐center experience and systematic review
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Endocrinology"
DOI: 10.1111/cen.14822
Abstract: To study phenotype‐genotype data of Asian−Indian Kallmann syndrome (KS) from our center and systematically review the studies analyzing multiple congenital hypogonadotropic hypogonadism (CHH) genes in KS cohorts using next‐generation sequencing. read more here.
Keywords: genetic spectrum; center; spectrum kallmann; kallmann syndrome ... See more keywords
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system
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DOI: 10.1111/cge.13606
Abstract: To explore the approaches and diagnostic yield of genetic testing for renal disease in children, we describe the genotype and phenotype of the national cohort of children with renal disease from 13 different regions of… read more here.
Keywords: renal disease; registration system; multicenter registration; disease ... See more keywords
Broadening the genetic spectrum of distal hereditary motor neuropathy
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Neurology"
DOI: 10.1111/ene.14734
Abstract: In this issue of the Journal, Frasquet et al. report on the genetic spectrum of a large cohort of patients with distal hereditary motor neuropathy (dHMN) from two large centres in Spain1 . All patients… read more here.
Keywords: motor neuropathy; distal hereditary; hereditary motor; genetic spectrum ... See more keywords
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108501
Abstract: Background and objectives Cystic fibrosis (CF) is a heterogeneous disease with a diverse genetic spectrum among populations. Few patients with CF of Chinese origin have been reported worldwide. The objective of this study is to… read more here.
Keywords: genetic spectrum; chinese origin; spectrum chinese; chinese children ... See more keywords
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia
Sign Up to like & getrecommendations! Published in 2019 at "Translational Neurodegeneration"
DOI: 10.1186/s40035-019-0157-9
Abstract: BackgroundAlthough many causative genes of hereditary spastic paraplegia (HSP) have been uncovered in recent years, there are still approximately 50% of HSP patients without genetically diagnosis, especially in autosomal recessive (AR) HSP patients. Rare studies have… read more here.
Keywords: clinical features; hereditary spastic; spastic paraplegia; hsp patients ... See more keywords
The Genetic Spectrum of Familial Hypertriglyceridemia in Oman
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.886182
Abstract: Familial hypertriglyceridemia (F-HTG) is an autosomal disorder that causes severe elevation of serum triglyceride levels. It is caused by genetic alterations in LPL, APOC2, APOA5, LMF1, and GPIHBP1 genes. The mutation spectrum of F-HTG in… read more here.
Keywords: genetic spectrum; gene; familial hypertriglyceridemia; mutation ... See more keywords
Corrigendum: Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2020.636981
Abstract: [This corrects the article DOI: 10.3389/fneur.2020.01014.]. read more here.
Keywords: spectrum myofibrillar; myofibrillar myopathy; corrigendum expanding; clinico genetic ... See more keywords
The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24010130
Abstract: Maturity-onset diabetes of the young (MODY) is a rare monogenic form of diabetes mellitus. In this study, we estimated the prevalence and genetic spectrum of MODY in the Middle Eastern population of Qatar using whole-genome… read more here.
Keywords: genetic spectrum; mody; population based; population ... See more keywords