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Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status

Human reproduction (Oxford), 2013-04, Vol.28 (4), p.1054-1061

2013

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OC18.04: Clinical and molecular data in case of prenatal localised overgrowth disorders: major implication of variants in the PI3K‐AKT‐mTOR signalling pathway

Ultrasound in obstetrics & gynecology, 2021-10, Vol.58 (S1), p.52-53

2021

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Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations

Journal of the European Academy of Dermatology and Venereology, 2021-10, Vol.35 (10), p.2085-2090

2021

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Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Clinical genetics, 2017-08, Vol.92 (2), p.188-198

2017

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Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway

Ultrasound in obstetrics & gynecology, 2022-04, Vol.59 (4), p.532-542

2022

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Expanding the clinical spectrum of mosaic BRAF skin phenotypes

Journal of the European Academy of Dermatology and Venereology, 2021-10, Vol.35 (10), p.e690-e693

2021

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Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus

British journal of dermatology (1951), 2017-01, Vol.176 (1), p.204-208

2017

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TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2813-2818

2018

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Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

Clinical genetics, 2017-02, Vol.91 (2), p.333-338

2017

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Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities

Clinical genetics, 2016-05, Vol.89 (5), p.e1-e4

2016

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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

Neurogenetics, 2018-05, Vol.19 (2), p.93-103

2018

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315 Cerebriform sebaceous nevus is caused by the specific postzygotic FGRF2 p.(Cys382Arg) variation

Journal of investigative dermatology, 2019-09, Vol.139 (9), p.S268-S268

2019

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Angiodysplasie complexe à type de syndrome de Klippel-Trenaunay avec hypotrophie liée à une mutation PIK3R1 en mosaïque

Annales de Dermatologie et de Vénéréologie - FMC, 2023-12, Vol.3 (8), p.A284

2023

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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Genetics in medicine, 2019-09, Vol.21 (9), p.2025-2035

2019

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Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

Journal of medical genetics, 2021-06, Vol.58 (6), p.400-413

2021

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LB1539 Genotype-first phenotyping of 32 patients with post-zygotic GNAQ or GNA11 mutations

Journal of investigative dermatology, 2018-09, Vol.138 (9), p.B12-B12

2018

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Traumatologie du footballeur professionnel en France : étude rétrospective sur les saisons 2016/2017 et 2017/2018 à propos de 17 clubs de ligue 1 et ligue 2

Journal de traumatologie du sport, 2019-06, Vol.36 (2), p.75-85

2019

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Incidence and characteristics of COVID-19 in French professional football players during the 2020-2021 season

Infectious diseases now (Online), 2022-09, Vol.52 (6), p.371-373

2022

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782 Detection of mosaic copy-number variation from whole-exome sequencing in mosaic cutaneous disorders using XHMM and custom SNP approach

Journal of investigative dermatology, 2018-05, Vol.138 (5), p.S133-S133

2018

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Description phénotypique de 32 patients avec mutations en mosaïque post-zygotiques de GNAQ ou GNA11

Annales de dermatologie et de vénéréologie, 2018-12, Vol.145 (12), p.S72-S73

2018

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783 Molecular diagnosis of mosaic skin development disorders using next generation sequencing

Journal of investigative dermatology, 2018-05, Vol.138 (5), p.S133-S133

2018

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794 Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome

Journal of investigative dermatology, 2018-05, Vol.138 (5), p.S135-S135

2018

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151 Postzygotic KITLG mutation in a congenital non-progressive linear nevoid hyperpigmentation

Journal of investigative dermatology, 2016-09, Vol.136 (9), p.S186-S186

2016

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186 Mutational spectrum in PIK3CA-Related Overgrowth Spectrum (PROS) and recommendations for molecular testing

Journal of investigative dermatology, 2016-09, Vol.136 (9), p.S192-S192

2016

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Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status

OC18.04: Clinical and molecular data in case of prenatal localised overgrowth disorders: major implication of variants in the PI3K‐AKT‐mTOR signalling pathway

Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K‐AKT‐mTOR signaling pathway

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

Expanding the clinical spectrum of mosaic BRAF skin phenotypes

Mosaic‐activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

315 Cerebriform sebaceous nevus is caused by the specific postzygotic FGRF2 p.(Cys382Arg) variation

Angiodysplasie complexe à type de syndrome de Klippel-Trenaunay avec hypotrophie liée à une mutation PIK3R1 en mosaïque

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations

LB1539 Genotype-first phenotyping of 32 patients with post-zygotic GNAQ or GNA11 mutations

Traumatologie du footballeur professionnel en France : étude rétrospective sur les saisons 2016/2017 et 2017/2018 à propos de 17 clubs de ligue 1 et ligue 2

Incidence and characteristics of COVID-19 in French professional football players during the 2020-2021 season

782 Detection of mosaic copy-number variation from whole-exome sequencing in mosaic cutaneous disorders using XHMM and custom SNP approach

Description phénotypique de 32 patients avec mutations en mosaïque post-zygotiques de GNAQ ou GNA11

783 Molecular diagnosis of mosaic skin development disorders using next generation sequencing

794 Postzygotic dominant-negative mutations of RHOA cause a mosaic neuroectodermal syndrome

151 Postzygotic KITLG mutation in a congenital non-progressive linear nevoid hyperpigmentation

186 Mutational spectrum in PIK3CA-Related Overgrowth Spectrum (PROS) and recommendations for molecular testing

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