Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jianyan Pan"'
Autor:
Chunhua Zhang, Siyi Chen, Yanling Teng, Desheng Liang, Jianyan Pan, Lingqian Wu, Zhuo Li, Sijing Zeng
Publikováno v:
Annals of Laboratory Medicine
Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder mainly caused by homozygous deletions that include exon 7 of the survival motor neuron 1 (SMN1) gene. A nearby paralog gene, SMN2, obstructs the specific detect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b0301c4dd72b06902108c0b4ddc800d
http://europepmc.org/articles/PMC7443528
http://europepmc.org/articles/PMC7443528
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 532
Hearing loss is a group of diseases with high genetic heterogeneity. About 160 genes have been reported to be associated with hereditary hearing loss.113 families with hearing loss were collected, and WES was used to detect SNV, InDel, CNV and mitoch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cffd0aba65d4321efddc4728a4143aa9
https://pubmed.ncbi.nlm.nih.gov/35640668
https://pubmed.ncbi.nlm.nih.gov/35640668
Publikováno v:
Medical Science Monitor : International Medical Journal of Experimental and Clinical Research
BACKGROUND Lysosomal storage diseases (LSDs), a group of rare inherited metabolic disorders, result from specific lysosomal proteins deficiencies in the degradation of biomacromolecule, including over 70 different diseases, most of which are autosoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::919f1c71323da1649d3cb0b38e467166
https://doi.org/10.12659/msm.915876
https://doi.org/10.12659/msm.915876
Autor:
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Jianyan, Pan, Hu, Tan, Miaojin, Zhou, Desheng, Liang, Lingqian, Wu
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(3)
Spinal muscular atrophy (SMA) is one of the most common fatal autosomal recessive genetic disorders among infants. It is caused by mutations of motor neuron survival gene 1 (SMN1). The incidence of SMA among newborns is approximately 1/10 000 - 1/600
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f58e70163e85e4cebb6c34cef25318d6
https://pubmed.ncbi.nlm.nih.gov/32128742
https://pubmed.ncbi.nlm.nih.gov/32128742
Autor:
Yingxi Cao, Jing Liu, Jianyan Pan, Yanling Teng, Lingqian Wu, Siyuan Linpeng, Zhuo Li, Desheng Liang
Publikováno v:
BioMed Research International, Vol 2018 (2018)
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliary diseases. To date, 34 subtypes of JBTS have been classified due to different causative genes or extra clinical features. Most of them are autosomal recessive, whil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::047a651d24d13858c178f06b942fa15d
https://doi.org/10.1155/2018/4032543
https://doi.org/10.1155/2018/4032543
Autor:
Siyuan, Linpeng, Jing, Liu, Jianyan, Pan, Yingxi, Cao, Yanling, Teng, Desheng, Liang, Zhuo, Li, Lingqian, Wu
Publikováno v:
BioMed Research International
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliary diseases. To date, 34 subtypes of JBTS have been classified due to different causative genes or extra clinical features. Most of them are autosomal recessive, whil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f062c6edf6bac78d4505c2847cec8523
https://pubmed.ncbi.nlm.nih.gov/30581852
https://pubmed.ncbi.nlm.nih.gov/30581852
Autor:
Jianyan Pan, Chunhua Zhang, Yanling Teng, Sijing Zeng, Siyi Chen, Desheng Liang, Zhuo Li, Lingqian Wu
Publikováno v:
Annals of Laboratory Medicine; 2021, Vol. 41 Issue 1, p101-107, 10p, 3 Charts, 4 Graphs
Publikováno v:
Medical Science Monitor; 10/11/2019, Vol. 25, p7634-7644, 11p