Philippe Vago

Clermont-ferrand, 63003, France

Last Updated: 09/26/2026

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Found 36 publications

Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.

Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.

Journal: Andrology

Published: May 04, 2022

Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?

Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?

Journal: Human molecular genetics

Published: December 10, 2021

Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.

Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.

Journal: European journal of medical genetics

Published: September 30, 2020

Analysis of the cost effectiveness of different strategies for the antenatal diagnosis of chromosomal aberrations in cases of ultrasound-identified fetal abnormalities.

Analysis of the cost effectiveness of different strategies for the antenatal diagnosis of chromosomal aberrations in cases of ultrasound-identified fetal abnormalities.

Journal: Annales de biologie clinique

Published: September 16, 2020

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Journal: NPJ genomic medicine

Published: July 10, 2019

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Journal: Prenatal diagnosis

Published: March 11, 2019

Very long-term molecular follow-up of minimal residual disease in patients with neuroblastoma.

Very long-term molecular follow-up of minimal residual disease in patients with neuroblastoma.

Journal: Pediatric blood & cancer

Published: June 07, 2018

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Journal: Journal of medical genetics

Published: March 26, 2018

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage.

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage.

Journal: Reproductive biomedicine online

Published: August 11, 2017

TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer.

TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer.

Journal: Oncotarget

Published: June 28, 2017

Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells.

Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells.

Journal: Chromosoma

Published: May 30, 2017

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Journal: NPJ genomic medicine

Published: March 24, 2017

Showing 1-12 of 36

Last Updated: 09/26/2026