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

Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing.

Congenital anomalies - 1 Jul 2019

Li Qiao-Yi, Huang Lv-Ying, Li Dong-Zhi

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Bardet-Biedl Syndrome
Share to Early Detection of Cancer
Share to Fingers
Share to High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney

Share to Polydactyly

Share to Ultrasonography, Prenatal

Source

Identifiers

PMID: 30073714
DOI: 10.1111/cga.12306

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing.PMID 30073714Read ↗

Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.Semantic proximity Read ↗

Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generation sequencingSemantic proximity Read ↗

Expanding the phenotype of Bardet-Biedl syndrome: Newly diagnosed sibling cases.Semantic proximity Read ↗

Genetics of human Bardet-Biedl syndrome, an updates.Semantic proximity Read ↗

Prenatal Genetic Analysis of Kidney AbnormalitiesSemantic proximity Read ↗

Prenatal Diagnosis and Prognosis of Fetal Hyperechogenic Kidney: A Study of 80 CasesSemantic proximity Read ↗

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendationsSemantic proximity Read ↗

Novel Homozygous Nonsense Mutation Associated with Bardet-Biedl Syndrome in Fetus with Congenital Renal MalformationSemantic proximity Read ↗

Novel homozygous nonsense mutation associated with Bardet-Biedl syndrome in fetuses with congenital renal malformation.Semantic proximity Read ↗

Case report and a brief review: Analysis and challenges of prenatal imaging phenotypes and genotypes in Joubert syndromeSemantic proximity Read ↗

Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencingSemantic proximity Read ↗

Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomesSemantic proximity Read ↗

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