Lista de obras -

A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability

scientific article published on 25 February 2019

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome

artículo científico publicado en 2018

Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.

artículo científico publicado en 2017

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 01 October 2020

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

artículo científico publicado en 2018

Behavioral and Neural Manifestations of Reward Memory in Carriers of Low-Expressing versus High-Expressing Genetic Variants of the Dopamine D2 Receptor

artículo científico publicado en 2017

CTLA-4-mediated posttranslational modifications direct cytotoxic T-lymphocyte differentiation

artículo científico publicado en 2017

Corrigendum: Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression

artículo científico publicado en 2015

Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome

artículo científico publicado en 2014

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Evaluation of conserved and ultra-conserved non-genic sequences in chromosome 15q15-linked periodic catatonia.

artículo científico publicado en 2011

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

artículo científico publicado en 2013

GPFrontend and GPGraphics: graphical analysis tools for genetic association studies

artículo científico publicado en 2010

Genetic Polymorphisms as Predictive Markers of Response to Growth Hormone Therapy in Children with Growth Hormone Deficiency.

artículo científico publicado en 2017

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability

artículo científico publicado en 2012

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

artículo científico publicado en 2011

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

artículo científico publicado en 2015

Mutations in GRIP1 cause Fraser syndrome

artículo científico publicado en 2012

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

artículo científico publicado en 2017

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

artículo científico publicado en 2018

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

artículo científico publicado en 2017

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 15 September 2020

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

artículo científico publicado en 2014

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature

artículo científico publicado en 2017

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

artículo científico publicado en 2015

Synaptic activity controls localization and function of CtBP1 via binding to Bassoon and Piccolo

scientific journal article

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

artículo científico publicado en 2020

Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy

artículo científico publicado en 2010

Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression

artículo científico publicado en 2014

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

artículo científico publicado en 2015

Lista de obras de

A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome

Aberrant neuronal activity-induced signaling and gene expression in a mouse model of RASopathy.

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Behavioral and Neural Manifestations of Reward Memory in Carriers of Low-Expressing versus High-Expressing Genetic Variants of the Dopamine D2 Receptor

CTLA-4-mediated posttranslational modifications direct cytotoxic T-lymphocyte differentiation

Corrigendum: Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression

Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Evaluation of conserved and ultra-conserved non-genic sequences in chromosome 15q15-linked periodic catatonia.

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

GPFrontend and GPGraphics: graphical analysis tools for genetic association studies

Genetic Polymorphisms as Predictive Markers of Response to Growth Hormone Therapy in Children with Growth Hormone Deficiency.

Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors

Mutations in GRIP1 cause Fraser syndrome

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Synaptic activity controls localization and function of CtBP1 via binding to Bassoon and Piccolo

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy

Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease