Lista de obras -

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

artículo científico publicado en 2013

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

artículo científico publicado en 2010

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

scientific article published on 01 January 2020

Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

scholarly article published in European Journal of Human Genetics

Expanding phenotype of XNP mutations: mild to moderate mental retardation

artículo científico publicado en 2002

Familial oligoasthenoteratozoospermia: evidence of autosomal dominant inheritance with sex-limited expression

artículo científico publicado en 2002

Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling

artículo científico publicado en 2016

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia

artículo científico publicado en 2007

Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

artículo científico publicado en 2021

In-frame deletion inMECP2 causes mild nonspecific mental retardation

artículo científico publicado en 2002

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.

artículo científico publicado en 2002

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

artículo científico publicado en 2006

Low frequency of MECP2 mutations in mentally retarded males

artículo científico publicado en 2002

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

artículo científico publicado en 2004

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

artículo científico publicado en 2019

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

artículo científico publicado en 2013

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

artículo científico publicado en 2008

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

artículo científico publicado en 2009

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

artículo científico publicado en 2005

Lista de obras de

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome

Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

Erratum: Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Expanding phenotype of XNP mutations: mild to moderate mental retardation

Familial oligoasthenoteratozoospermia: evidence of autosomal dominant inheritance with sex-limited expression

Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia

Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

In-frame deletion inMECP2 causes mild nonspecific mental retardation

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

Low frequency of MECP2 mutations in mentally retarded males

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation