Angele Sequeira-Tingaud
Bordeaux, France
Last Updated: 09/26/2026
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Found 15 publications
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Journal: Journal of medical genetics
Published: July 04, 2022
The Dct-/- Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism.
Journal: Genes
Published: May 25, 2022
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
Journal: Journal of medical genetics
Published: September 20, 2021
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.
Journal: Human genetics
Published: October 15, 2020
Dopachrome tautomerase variants in patients with oculocutaneous albinism.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 26, 2020
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 04, 2020
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.
Journal: Pigment cell & melanoma research
Published: April 06, 2020
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.
Journal: Molecular genetics & genomic medicine
Published: February 18, 2020
Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture.
Journal: European journal of human genetics : EJHG
Published: January 17, 2018
A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
Journal: European journal of human genetics : EJHG
Published: November 10, 2016
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.
Journal: Journal of medical genetics
Published: January 12, 2016
Last Updated: 09/26/2026