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

Genetic variation and molecular profiling of congenital malformations of the female genital tract based on whole-genome sequencing.

World journal of pediatrics : WJP - 1 Nov 2024

Qiu Jun-Jun, Chang Xing-Yu, Zhang Ning, Guo Luo-Pei, Wang Shuai, Gu Wei-Yue, Yin Yi-Meng, Shi Zhi-Wen, Hua Ke-Qin

Abstract excerpt

BACKGROUND: Congenital malformations of the female genital tract (CM-FGT) are characterized by abnormal development of the fallopian tubes, uterus, and vagina, often accompanied by malformations in the urinary system, bones and hearing. However, no definitive pathogenic genes and molecular genetic causes have been identified. METHODS: We present the largest whole-genome sequencing study of CM-FGT to date,...

Read the complete abstract on PubMed

Topics

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

Share to Case-Control Studies
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Genetic Variation

Share to Genitalia, Female

Share to Pedigree

Share to Urogenital Abnormalities

Share to Whole Genome Sequencing

Source

Identifiers

PMID: 39251565
DOI: 10.1007/s12519-024-00839-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic variation and molecular profiling of congenital malformations of the female genital tract based on whole-genome sequencing.PMID 39251565Read ↗

Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next‐generation sequencingSemantic proximity Read ↗

Application of family whole-exome sequencing for prenatal diagnosis—an analysis of 357 casesSemantic proximity Read ↗

Evolution of the genetic architecture of uterine disordersSemantic proximity Read ↗

Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencingSemantic proximity Read ↗

The Novel Mutations of Unexplained Abortion Were Analyzed at the Nucleotide Level and Classified According to Gene FunctionSemantic proximity Read ↗

Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis.Semantic proximity Read ↗

The genetic landscape of hypospadias: clinical insights into inherited and de novo risk factorsSemantic proximity Read ↗

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variantsSemantic proximity Read ↗

Genetic insights into hypospadias in the Taiwanese population: A whole-exome sequencing study in a single center.Semantic proximity Read ↗

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.Semantic proximity Read ↗

Whole-genome sequencing reveals contribution of rare and common variation to structural kidney and urinary tract malformationsSemantic proximity Read ↗

A genotype-first analysis in a cohort of Mullerian anomaly.Semantic proximity Read ↗

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