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Article

Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome.

Hormone research in paediatrics - 1 Jan 2012

Teissier Raphaël, Guillot Loïc, Carré Aurore, Morandini Melina, Stuckens Chantal, Ythier Hubert, Munnich Arnold, Szinnai Gabor, de Blic Jacques, Clement Annick, Leger Juliane, Castanet Mireille, Epaud Ralph, Polak Michel

Abstract excerpt

BACKGROUND: NKX2.1 mutations have been identified in patients displaying complete or partial brain-lung-thyroid syndrome, which can include benign hereditary chorea (BHC), hypothyroidism and/or lung disease. AIMS AND METHODS: We evaluated the recently developed Multiplex Ligation-dependent Probe Amplification (MLPA) method to assess the relative copy number of genes. The goal was to determine if MLPA could...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22488412
DOI: 10.1159/000337214

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.

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