Lista de obras -

Anatomical and functional abnormalities on MRI in kabuki syndrome.

artículo científico publicado en 2018

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

artículo científico publicado en 2019

Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature

artículo científico publicado en 2019

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

artículo científico publicado en 2019

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

scientific article published on 01 October 2019

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

scientific article published on 14 June 2019

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

scientific article published on 18 January 2019

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients

artículo científico publicado en 2018

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

scientific article published on 02 August 2019

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

artículo científico publicado en 2011

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

scientific article published on 26 August 2019

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

scientific article published on 04 October 2019

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

artículo científico publicado en 2019

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

scientific article published on 27 December 2018

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

artículo científico publicado en 2017

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations

scientific article published on 07 September 2019

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

artículo científico publicado en 2011

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

artículo científico publicado en 2018

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

scientific article published on 09 July 2019

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

scientific article published on 30 September 2019

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

scientific article published on 25 June 2019

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

artículo científico publicado en 2019

Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives

article

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

artículo científico publicado en 2015

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

artículo científico publicado en 2021

[Non-invasive prenatal screening]

scientific article published on 01 February 2019

[Problems posed by genetic diseases, concerning: chromosomal disorders, trisomy 21; genetic diseases, cystic fibrosis, DNA instability disorders: fragile X syndrome]

scientific article published on 01 February 2019

Lista de obras de

Anatomical and functional abnormalities on MRI in kabuki syndrome.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients

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

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

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

Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

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

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

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

Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives

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

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

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

[Non-invasive prenatal screening]

[Problems posed by genetic diseases, concerning: chromosomal disorders, trisomy 21; genetic diseases, cystic fibrosis, DNA instability disorders: fragile X syndrome]