Lista de obras -

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

scientific article published on 12 February 2014

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

artículo científico publicado en 2017

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

article

An incidental finding of maternal multiple myeloma by non invasive prenatal testing.

artículo científico publicado en 2017

Anatomical and functional abnormalities on MRI in kabuki syndrome.

artículo científico publicado en 2018

Chromoanasynthesis: another way for the formation of complex chromosomal abnormalities in human reproduction

artículo científico publicado en 2018

Chromothripsis, a credible chromosomal mechanism in evolutionary process

scientific article published on 07 August 2018

Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements

artículo científico publicado en 2014

Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review.

artículo científico publicado en 2014

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

artículo científico publicado en 2016

Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation

scientific article published on 16 March 2020

Discordant sex in monozygotic XXY/XX twins: a case report

artículo científico publicado en 2014

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

scientific article published on 02 August 2019

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

scientific article published on 01 July 2019

Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder.

artículo científico publicado en 2015

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

artículo científico publicado en 2019

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters

artículo científico publicado en 2018

Looking for Broken TAD Boundaries and Changes on DNA Interactions: Clinical Guide to 3D Chromatin Change Analysis in Complex Chromosomal Rearrangements and Chromothripsis.

artículo científico publicado en 2018

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

artículo científico publicado en 2017

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

artículo científico

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

artículo científico publicado en 2016

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

artículo científico publicado en 2018

Potential Role of Chromothripsis in the Genesis of Complex Chromosomal Rearrangements in Human Gametes and Preimplantation Embryo.

artículo científico publicado en 2018

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

artículo científico publicado en 2019

Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere length

artículo científico publicado en 2019

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

artículo científico publicado en 2017

Typical facial gestalt in X-linked Kabuki syndrome.

artículo científico publicado en 2016

[Complex chromosomal rearrangements: a paradigm for the study of chromosomal instability]

artículo científico publicado en 2014

[Kabuki syndrome: Update and review].

artículo científico publicado en 2015

Lista de obras de

A French collaborative survey of 272 fetuses with 22q11.2 deletion: ultrasound findings, fetal autopsies and pregnancy outcomes

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

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

An incidental finding of maternal multiple myeloma by non invasive prenatal testing.

Anatomical and functional abnormalities on MRI in kabuki syndrome.

Chromoanasynthesis: another way for the formation of complex chromosomal abnormalities in human reproduction

Chromothripsis, a credible chromosomal mechanism in evolutionary process

Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements

Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review.

Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11

Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation

Discordant sex in monozygotic XXY/XX twins: a case report

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

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

Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters

Looking for Broken TAD Boundaries and Changes on DNA Interactions: Clinical Guide to 3D Chromatin Change Analysis in Complex Chromosomal Rearrangements and Chromothripsis.

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

Potential Role of Chromothripsis in the Genesis of Complex Chromosomal Rearrangements in Human Gametes and Preimplantation Embryo.

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere length

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Typical facial gestalt in X-linked Kabuki syndrome.

[Complex chromosomal rearrangements: a paradigm for the study of chromosomal instability]

[Kabuki syndrome: Update and review].