Lista de obras -

A putative high risk diplotype of the G72 gene is in healthy individuals associated with better performance in working memory functions and altered brain activity in the medial temporal lobe

artículo científico publicado en 2009

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

artículo científico publicado en 2020

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

scientific article published on 04 March 2019

Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects

artículo científico publicado en 2009

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

scientific article published on 11 May 2020

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

artículo científico publicado en 2020

Genetic variation in G72 correlates with brain activation in the right middle temporal gyrus in a verbal fluency task in healthy individuals

artículo científico publicado en 2011

Genetic variation in the schizophrenia-risk gene neuregulin 1 correlates with brain activation and impaired speech production in a verbal fluency task in healthy individuals

artículo científico

Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with differences in frontal brain activation in a working memory task in healthy individuals

artículo científico publicado en 2008

Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with personality traits in healthy individuals

artículo científico publicado en 2008

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.

scientific article published on 09 August 2020

Impact of schizophrenia-risk gene dysbindin 1 on brain activation in bilateral middle frontal gyrus during a working memory task in healthy individuals

artículo científico publicado en 2010

Inherited cases of CNOT3-associated Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies

artículo científico publicado en 2020

Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype

artículo científico publicado en 2019

Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.

artículo científico publicado en 2016

Molecular and clinical studies in 8 patients with Temple syndrome

artículo científico publicado en 2018

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

artículo científico publicado en 2020

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

artículo científico publicado en 2021

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting

scientific article published on 23 May 2020

Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome

artículo científico publicado en 2020

Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics

artículo científico publicado en 2020

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

artículo científico publicado en 2020

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients

artículo científico publicado en 2018

The effect of Neuregulin 1 on neural correlates of episodic memory encoding and retrieval

artículo científico publicado en 2009

The effects of a DTNBP1 gene variant on attention networks: an fMRI study

artículo científico publicado en 2010

The impact of dystrobrevin-binding protein 1 (DTNBP1) on neural correlates of episodic memory encoding and retrieval

artículo científico publicado en 2010

The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

artículo científico publicado en 2017

upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

artículo científico publicado en 2020

Lista de obras de

A putative high risk diplotype of the G72 gene is in healthy individuals associated with better performance in working memory functions and altered brain activity in the medial temporal lobe

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

Effect of the G72 (DAOA) putative risk haplotype on cognitive functions in healthy subjects

Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndrome

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

Genetic variation in G72 correlates with brain activation in the right middle temporal gyrus in a verbal fluency task in healthy individuals

Genetic variation in the schizophrenia-risk gene neuregulin 1 correlates with brain activation and impaired speech production in a verbal fluency task in healthy individuals

Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with differences in frontal brain activation in a working memory task in healthy individuals

Genetic variation in the schizophrenia-risk gene neuregulin1 correlates with personality traits in healthy individuals

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.

Impact of schizophrenia-risk gene dysbindin 1 on brain activation in bilateral middle frontal gyrus during a working memory task in healthy individuals

Inherited cases of CNOT3-associated Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies

Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype

Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.

Molecular and clinical studies in 8 patients with Temple syndrome

Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting

Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome

Prenatal Detection of Uniparental Disomies (UPD): Intended and Incidental Finding in the Era of Next Generation Genomics

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients

The effect of Neuregulin 1 on neural correlates of episodic memory encoding and retrieval

The effects of a DTNBP1 gene variant on attention networks: an fMRI study

The impact of dystrobrevin-binding protein 1 (DTNBP1) on neural correlates of episodic memory encoding and retrieval

The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts