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Publications by J.-P. de Villartay

Function of Apollo (SNM1B) at Telomere Highlighted by a Splice Variant Identified in a Patient With Hoyeraal-Hreidarsson Syndrome

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

2010

English

Related publications

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

English

Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita

Ophthalmic Surgery Lasers and Imaging Retina

English

Telomerase Reverse-Transcriptase Homozygous Mutations in Autosomal Recessive Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome

English

A Rare PHKA2 Variant (p.G991A) Identified in a Patient With Ketotic Hypoglycemia

English

A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing

Andrology

Endocrinology

Reproductive Medicine

English

Whole‐exome Sequencing Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis

Molecular genetics & genomic medicine

Genetics

Molecular Biology

2020

English

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him With CHARGE Syndrome

Frontiers in Genetics

Genetics

Molecular Medicine

2018

English

De Novo Splice Site Variant of ARID1B Associated With Pathogenesis of Coffin–Siris Syndrome

Molecular genetics & genomic medicine

Genetics

Molecular Biology

2019

English

Highly Atypical Myeloblasts in Acute Myeloid Leukaemia With Myelodysplasia-Related Changes in a Patient With Short Telomere Syndrome

British Journal of Haematology

Hematology

2018

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by J.-P. de Villartay

Function of Apollo (SNM1B) at Telomere Highlighted by a Splice Variant Identified in a Patient With Hoyeraal-Hreidarsson Syndrome

Related publications

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita

Telomerase Reverse-Transcriptase Homozygous Mutations in Autosomal Recessive Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome

A Rare PHKA2 Variant (p.G991A) Identified in a Patient With Ketotic Hypoglycemia

A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing

Whole‐exome Sequencing Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him With CHARGE Syndrome

De Novo Splice Site Variant of ARID1B Associated With Pathogenesis of Coffin–Siris Syndrome

Highly Atypical Myeloblasts in Acute Myeloid Leukaemia With Myelodysplasia-Related Changes in a Patient With Short Telomere Syndrome