Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Analysis and clinical application of preimplantation genetic testing for monogenic disorders in a case with Spinal muscular atrophy "2+0" genotype].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2024

Li Shaoying, He Jianchun, He Wenzhi, Xian Jiajia, Huang Lingling, Zhao Gengye, Zhang Xin, Du Renqian, Chu Liming, Wang Yueqiang, Kong Lingyin, Liang Bo, Li Qing

Abstract excerpt

OBJECTIVE: To explore the clinical application of preimplantation genetic testing for monogenic disorders (PGT-M) in an unique case with Spinal muscular atrophy (SMA) type 2+0. METHODS: A special SMA family presented at the Third Affiliated Hospital of Guangzhou Medical University on October 19, 2020 was selected as the study subject. Multiple ligation-dependent probe amplification (MLPA) and molecular tagging...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Haplotypes
Share to Genetic Counseling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Genotype

Share to Muscular Atrophy, Spinal

Share to Pregnancy

Source

Identifiers

PMID: 38448017
DOI: 10.3760/cma.j.cn511374-20221109-00777

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Analysis and clinical application of preimplantation genetic testing for monogenic disorders in a case with Spinal muscular atrophy "2+0" genotype].PMID 38448017Read ↗

Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA).Semantic proximity Read ↗

[Application of CNVPLUS-array custom microarray in genetic analysis of spinal muscular atrophy].Semantic proximity Read ↗

Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women.Semantic proximity Read ↗

[Variant analysis and prenatal diagnosis for two Chinese pedigrees affected with Spinal muscular atrophy with respiratory distress type 1].Semantic proximity Read ↗

[Clinical characteristics and genetics functional analysis of two children with Spinal muscular atrophy].Semantic proximity Read ↗

Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant womenSemantic proximity Read ↗

Whole exome sequencing provides a diagnosis of spinal muscular atrophy pedigree with SMN1 “2+0” genotypeSemantic proximity Read ↗

Unraveling the Genetic Mysteries of Spinal Muscular Atrophy in Chinese FamiliesSemantic proximity Read ↗

An Effective and Universal Long-Read Sequencing-Based Approach for SMN1 2 + 0 Carrier Screening through Family Trio Analysis.Semantic proximity Read ↗

Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype.Semantic proximity Read ↗

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in ChinaSemantic proximity Read ↗

Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.