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
Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1436
Abstract: This study aimed to identify the disease‐causing mutation of congenital cataract disease in a large northeastern Chinese family. read more here.
Keywords: increased hydrophobicity; hydrophobicity crygd; ala159profster9 suspected; chinese family ... See more keywords
Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1846
Abstract: Both Charcot‐Marie‐Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA‐V) are GARS1 disease phenotypes involving axonal peripheral neuropathy. Patients often develop clinical symptoms in their teens. Herein, we reported a Chinese… read more here.
Keywords: onset cmt2d; cmt2d dsma; infantile onset; gars1 ... See more keywords
A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy
Sign Up to like & getrecommendations! Published in 2021 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-021-05376-w
Abstract: North Carolina macular dystrophy (NCMD) is a rare autosomal dominant inherited disorder characterized by macular impairment with a variety of phenotypic manifestations. The aims of this study were to assess the clinical features of a… read more here.
Keywords: carolina macular; chinese family; family; tandem duplication ... See more keywords
Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family
Sign Up to like & getrecommendations! Published in 2020 at "Neurological Sciences"
DOI: 10.1007/s10072-020-04284-x
Abstract: Generalized epilepsy with febrile seizures plus (GEFS+) is a complex familial epilepsy syndrome. It is mainly caused by mutations in SCN1A gene, encoding type 1 voltage-gated sodium channel α-subunit (NaV1.1), and GABRA1 gene, encoding the… read more here.
Keywords: chinese family; gene; generalized epilepsy; mutation ... See more keywords
A new Chinese family with HTRA1 mutation associated with CARASIL
Sign Up to like & getrecommendations! Published in 2022 at "Neurological Sciences"
DOI: 10.1007/s10072-022-06071-2
Abstract: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), an autosomal recessive inherited cerebral small vessel disease (CSVD), is characterized by early adult-onset dementia with white matter lesions and multiple lacunae and is accompanied… read more here.
Keywords: family htra1; mutation associated; associated carasil; chinese family ... See more keywords
Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family
Sign Up to like & getrecommendations! Published in 2022 at "Reproductive Sciences"
DOI: 10.1007/s43032-022-00898-y
Abstract: Meckel syndrome (MKS, OMIM:249000) is a severe multiorgan dysplastic lethal ciliopathy with extreme genetic heterogeneity. Defects in RPGRIP1L are the cause of MKS type 5 (MKS5, OMIM:611561). However, only six different variants have been reported… read more here.
Keywords: meckel syndrome; genetic testing; preimplantation genetic; family ... See more keywords
A novel homozygous FBXO43 mutation associated with male infertility and teratozoospermia in a consanguineous Chinese family.
Sign Up to like & getrecommendations! Published in 2019 at "Fertility and sterility"
DOI: 10.1016/j.fertnstert.2019.01.007
Abstract: OBJECTIVE To identify the genetic causes of male infertility characterized by teratozoospermia. DESIGN Genetic studies. SETTING Medical university. PATIENT(S) Two infertile brothers with teratozoospermia in a consanguineous Chinese family, another 124 sporadic infertile male patients… read more here.
Keywords: consanguineous chinese; chinese family; family; fbxo43 ... See more keywords
Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.
Sign Up to like & getrecommendations! Published in 2017 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2017.06.008
Abstract: OBJECTIVE Autosomal dominant non-syndromic low-frequency sensorineural hearing loss (LFSNHL) DFNA6/14/38 is an uncommon type of hearing loss that classically affects low frequencies of 2000 Hz and below, demonstrating an ascending configuration. The current study aimed to… read more here.
Keywords: hearing loss; chinese family; family; hearing ... See more keywords
A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease
Sign Up to like & getrecommendations! Published in 2017 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2016.10.010
Abstract: A subset of Alzheimer's disease (AD) occurrence shows autosomal dominant, familial inheritance patterns. Such familial AD (FAD) are caused by mutations in APP, PSEN1, and PSEN2 genes, which encode amyloid-β (Aβ) precursor protein, presenilin 1… read more here.
Keywords: family early; mutation; chinese family; alzheimer disease ... See more keywords
Familial occurrence of cerebral cavernous malformation in a Chinese family and treated by Gamma Knife radiosurgery
Sign Up to like & getrecommendations! Published in 2017 at "Neurology Psychiatry and Brain Research"
DOI: 10.1016/j.npbr.2016.11.005
Abstract: Abstract Familial cerebral cavernous malformation (FCCM) is a rare autosomal dominant inherit vascular disorder of the central nerves system. The authors reviewed the literature and presented four members who harbored FCCM within a Chinese family:… read more here.
Keywords: chinese family; gamma knife; cerebral cavernous; knife radiosurgery ... See more keywords