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Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders

European journal of human genetics : EJHG, 2021-05, Vol.29 (5), p.771-779

2021

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The HNF1B score is a simple tool to select patients for HNF1B gene analysis

Kidney international, 2014-11, Vol.86 (5), p.1007-1015

2014

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Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia

International journal of molecular sciences, 2024-03, Vol.25 (5), p.2669

2024

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Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye

European journal of human genetics : EJHG, 2023-05, Vol.31 (5), p.526-530

2023

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Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

European journal of human genetics : EJHG, 2021-01, Vol.29 (1), p.131-140

2021

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Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia

International journal of molecular sciences, 2023-01, Vol.24 (2), p.1562

2023

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Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis

Journal of human genetics, 2020-05, Vol.65 (5), p.487-491

2020

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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Human genetics, 2019-09, Vol.138 (8-9), p.1051-1069

2019

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Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Nature genetics, 2007-08, Vol.39 (8), p.957-959

2007

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A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

Human molecular genetics, 2010-05, Vol.19 (10), p.2015-2027

2010

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Expanding the KIF4A‐associated phenotype

American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3728-3739

2021

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Searching for secondary findings: considering actionability and preserving the right not to know

European journal of human genetics : EJHG, 2019-10, Vol.27 (10), p.1481-1484

2019

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Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients

Acta dermato-venereologica, 2017-07, Vol.97 (7), p.853-854

2017

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From Child to Adulthood, a Multidisciplinary Approach of Multiple Microdontia Associated with Hypodontia: Case Report Relating a 15 Year-Long Management and Follow-Up

Healthcare (Basel), 2021-09, Vol.9 (9), p.1180

2021

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Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria

American journal of human genetics, 2015-04, Vol.96 (4), p.631-639

2015

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Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

Molecular genetics & genomic medicine, 2020-05, Vol.8 (5), p.e1132-n/a

2020

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Acquired pseudoxanthoma elasticum presenting after liver transplantation

Journal of the American Academy of Dermatology, 2011-05, Vol.64 (5), p.873-878

2011

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A male with unilateral microphthalmia reveals a role for TMX3 in eye development

PloS one, 2010-05, Vol.5 (5), p.e10565

2010

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Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

Journal of human genetics, 2010-02, Vol.55 (2), p.112-117

2010

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Editorial to the special issue on “Molecular Genetics of Developmental Eye Disorders”

Human genetics, 2019-09, Vol.138 (8-9), p.793-793

2019

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Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

American journal of human genetics, 2016-08, Vol.99 (2), p.437-442

2016

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ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes

European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.363-367

2023

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Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders

The HNF1B score is a simple tool to select patients for HNF1B gene analysis

Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

A mutation in the 3′-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

Expanding the KIF4A‐associated phenotype

Searching for secondary findings: considering actionability and preserving the right not to know

Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients

From Child to Adulthood, a Multidisciplinary Approach of Multiple Microdontia Associated with Hypodontia: Case Report Relating a 15 Year-Long Management and Follow-Up

Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

Acquired pseudoxanthoma elasticum presenting after liver transplantation

A male with unilateral microphthalmia reveals a role for TMX3 in eye development

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

Editorial to the special issue on “Molecular Genetics of Developmental Eye Disorders”

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes

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