Lista de obras -

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

artículo científico publicado en 2013

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

artículo científico publicado en 2008

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region

artículo científico publicado en 2006

A long-term competent chimeric immune system in a dizygotic dichorionic twin

artículo científico publicado en 2011

A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

artículo científico publicado en 2015

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

artículo científico publicado en 2013

Abnormal abdominal situs: what and how should we look for?

artículo científico publicado en 2006

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient

Additional clinical and molecular analyses ofTFAP2Ain patients with the branchio-oculo-facial syndrome

Aphallia, lung agenesis and multiple defects of blastogenesis

artículo científico publicado en 2011

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

artículo científico publicado en 2012

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype

artículo científico publicado en 2012

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

artículo científico publicado en 2006

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases

artículo científico publicado en 2006

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

artículo científico publicado en 2003

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome ⬇️

artículo científico publicado el 5 de agosto de 2013

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

scientific article published on 17 August 2007

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

artículo científico publicado en 2013

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion

artículo científico publicado en 2005

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

artículo científico publicado en 2016

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

artículo científico publicado en 2014

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia

artículo científico publicado en 2012

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

artículo científico publicado en 2014

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

artículo científico publicado en 2018

Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?

artículo científico publicado en 2003

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

scientific article published on 08 January 2019

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases

artículo científico publicado en 2013

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

artículo científico publicado en 2012

Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation

artículo científico publicado en 2004

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

scholarly article

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

artículo científico publicado en 2005

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

artículo científico publicado en 2017

Finger creases lend a hand in Kabuki syndrome.

artículo científico publicado en 2013

Further delineation of Kabuki syndrome in 48 well-defined new individuals

artículo científico publicado en 2005

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

artículo científico publicado en 2018

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

artículo científico publicado en 2003

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

artículo científico publicado en 2005

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

artículo científico publicado en 2006

Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?

artículo científico publicado en 2005

Growth charts in Kabuki syndrome 1

artículo científico publicado en 2019

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

article

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

article

High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis.

artículo científico publicado en 2006

Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs

artículo científico publicado en 2008

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

article

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

artículo científico publicado en 2012

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

artículo científico publicado en 2014

Juvenile myelomonocytic leukaemia and Noonan syndrome.

artículo científico publicado en 2014

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

artículo científico publicado en 2015

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

artículo científico publicado en 2012

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

artículo científico publicado en 2005

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

artículo científico publicado en 2017

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

artículo científico publicado en 2010

Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma

artículo científico publicado en 2010

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

artículo científico publicado en 2013

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

artículo científico publicado en 2016

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

artículo científico publicado en 2013

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

artículo científico publicado en 2016

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

artículo científico publicado en 2006

Mutations in two regions of FLNB result in atelosteogenesis I and III.

artículo científico publicado en 2006

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

artículo científico publicado en 2015

Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

artículo científico publicado en 2005

New insights into genotype-phenotype correlation for GLI3 mutations

artículo científico publicado en 2014

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

artículo científico publicado en 2014

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals

artículo científico publicado en 2003

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

artículo científico publicado en 2012

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

artículo científico publicado en 2016

Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome

artículo científico publicado en 2009

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

scientific article published on 01 July 2008

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

artículo científico publicado en 2010

Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

artículo científico publicado en 2005

Prenatal findings in cardio-facio-cutaneous syndrome

artículo científico publicado en 2015

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

artículo científico publicado en 2015

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

artículo científico publicado en 2002

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations

artículo científico publicado en 2006

Severely delayed epiphyseal ossification dysplasia with normal stature

scientific article published on 01 August 2003

Should chromosome breakage studies be performed in patients with VACTERL association?

article

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

artículo científico publicado en 2005

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

artículo científico publicado en 2011

Spondylometaphyseal dysplasia, east-African type: a new form of early, severe SMD with rounded vertebrae

artículo científico publicado en 2002

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

artículo científico publicado en 2015

The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene

artículo científico publicado en 2007

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins

artículo científico publicado en 2005

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

scientific article published on 01 November 2010

[Recommendations for the medical management of aortic complications of Marfan's syndrome]

scientific article published on 01 May 2006

Lista de obras de

A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region

A long-term competent chimeric immune system in a dizygotic dichorionic twin

A new syndrome of congenital generalized osteosclerosis and bilateral polymicrogyria

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

Abnormal abdominal situs: what and how should we look for?

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient

Additional clinical and molecular analyses ofTFAP2Ain patients with the branchio-oculo-facial syndrome

Aphallia, lung agenesis and multiple defects of blastogenesis

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases

CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome ⬇️

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome

Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion

Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype.

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome?

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

Finger creases lend a hand in Kabuki syndrome.

Further delineation of Kabuki syndrome in 48 well-defined new individuals

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?

Growth charts in Kabuki syndrome 1

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: Further delineation and review

Heterogeneity ofNSD1alterations in 116 patients with Sotos syndrome

High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis.

Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Juvenile myelomonocytic leukaemia and Noonan syndrome.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?

Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma

Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

New insights into genotype-phenotype correlation for GLI3 mutations

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

Nicolaides-Baraitser syndrome: confirmatory report of a syndrome with sparse hair, mental retardation, and short stature and metacarpals

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

Prenatal findings in cardio-facio-cutaneous syndrome

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations

Severely delayed epiphyseal ossification dysplasia with normal stature

Should chromosome breakage studies be performed in patients with VACTERL association?

Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification