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

Targeted massively parallel sequencing for congenital generalized lipodystrophy.

Archives of endocrinology and metabolism - 18 May 2021

Costa-Riquetto Aline D, Santana Lucas S, Caetano Lílian A, Lerário Antônio M, Correia-Deur Joya E M, Bertola Débora R, Kim Chong A, Nery Márcia, Jorge Alexander A L, Teles Milena G

Abstract excerpt

OBJECTIVE: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). METHODS: Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated, sequenced using the...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to GTP-Binding Protein gamma Subunits

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Lipodystrophy

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 34033296
DOI: 10.20945/2359-3997000000278
PMCID: PMC10118969

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Targeted massively parallel sequencing for congenital generalized lipodystrophy.PMID 34033296Read ↗

A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.Semantic proximity Read ↗

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrumSemantic proximity Read ↗

A Series of Genetically Confirmed Congenital Lipodystrophy and Diabetes in adult Southern Indian PatientsSemantic proximity Read ↗

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.Semantic proximity Read ↗

Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.Semantic proximity Read ↗

Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.Semantic proximity Read ↗

Type 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation.Semantic proximity Read ↗

Congenital generalized lipodystrophy in Taiwan.Semantic proximity Read ↗

A study of congenital generalized lipodystrophy (CGL) caused by BSCL2 gene mutation.Semantic proximity Read ↗

Clinical and Mutational Features of Three Chinese Children with Congenital Generalized Lipodystrophy.Semantic proximity Read ↗

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.Semantic proximity Read ↗

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.Semantic proximity Read ↗

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