Lista de obras -

A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures

artículo científico publicado en 2020

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)

article

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

artículo científico publicado en 2015

A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia

artículo científico publicado en 2012

CD133-positive hematopoietic stem cell "stemness" genes contain many genes mutated or abnormally expressed in leukemia

scientific article published on 01 September 2005

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress

artículo científico publicado en 2015

Copy number variations in cryptogenic cerebral palsy

artículo científico publicado en 2015

Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group

artículo científico publicado en 2009

Essential Role of BRCA2 in Ovarian Development and Function

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis

artículo científico publicado en 2015

Ganglioglioma, Epilepsy, and Intellectual Impairment due to Familial TSC1 Deletion.

artículo científico publicado en 2018

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria

artículo científico publicado en 2011

Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy

scientific article published on 19 November 2018

Identification of IRF-8 and IRF-1 target genes in activated macrophages

artículo científico publicado en 2006

Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male

scientific article published on 12 July 2018

Is fetal isolated double renal collecting system an indication for chromosomal microarray?

scientific article published on 15 May 2019

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

artículo científico publicado en 2016

Mechanisms operative in the antitumor activity of temozolomide in glioblastoma multiforme

artículo científico publicado en 2007

MitochondrialPITRM1peptidase loss-of-function in childhood cerebellar atrophy

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

artículo científico publicado en 2014

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome ⬇️

artículo científico publicado el 20 de enero de 2011

Nanog transforms NIH3T3 cells and targets cell-type restricted genes

artículo científico publicado en 2006

Snord 3A: a molecular marker and modulator of prion disease progression

artículo científico publicado en 2013

TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair

artículo científico publicado en 2015

The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD

artículo científico publicado en 2020

The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.

artículo científico publicado en 2015

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome

artículo científico publicado en 2017

What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?

scientific article published on 19 August 2019

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription

artículo científico publicado en 2011

Lista de obras de

A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures

A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD)

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis

A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia

CD133-positive hematopoietic stem cell "stemness" genes contain many genes mutated or abnormally expressed in leukemia

Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress

Copy number variations in cryptogenic cerebral palsy

Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group

Essential Role of BRCA2 in Ovarian Development and Function

Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis

Ganglioglioma, Epilepsy, and Intellectual Impairment due to Familial TSC1 Deletion.

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria

Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy

Identification of IRF-8 and IRF-1 target genes in activated macrophages

Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male

Is fetal isolated double renal collecting system an indication for chromosomal microarray?

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection

Mechanisms operative in the antitumor activity of temozolomide in glioblastoma multiforme

MitochondrialPITRM1peptidase loss-of-function in childhood cerebellar atrophy

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome ⬇️

Nanog transforms NIH3T3 cells and targets cell-type restricted genes

Snord 3A: a molecular marker and modulator of prion disease progression

TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair

The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD

The spinal muscular atrophy with pontocerebellar hypoplasia gene VRK1 regulates neuronal migration through an amyloid-β precursor protein-dependent mechanism.

Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome

What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription