Lista de obras -

A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)

scientific article published on 01 January 2005

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

artículo científico publicado en 2017

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.

artículo científico publicado en 2018

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.

artículo científico publicado en 2017

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

artículo científico publicado en 2018

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

artículo científico

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase

artículo científico publicado en 2002

Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells

artículo científico publicado en 2007

Mandibular-Pelvic-Patellar syndrome (MPP) is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability

artículo científico publicado en 2020

Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence

scientific article published on 05 April 2019

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

artículo científico publicado en 2017

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

artículo científico publicado en 2019

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

artículo científico publicado en 2020

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

artículo científico publicado en 2017

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

artículo científico publicado en 2019

The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation ⬇️

artículo científico publicado el 1 de octubre de 2003

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

artículo científico publicado en 2018

ZEB2, a new candidate gene for asplenia

artículo científico publicado en 2014

Lista de obras de

A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase

Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells

Mandibular-Pelvic-Patellar syndrome (MPP) is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability

Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature

The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation ⬇️

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

ZEB2, a new candidate gene for asplenia