Lista de obras -

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

artículo científico publicado en 2018

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

artículo científico publicado en 2013

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.

artículo científico publicado en 2018

Cutis Laxa

artículo científico

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature

artículo científico

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy

scientific article published on 01 March 2019

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

artículo científico publicado en 2017

Early clinical manifestations and eating patterns in patients with urea cycle disorders

artículo científico publicado en 2012

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

artículo científico publicado en 2012

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

artículo científico publicado en 2018

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

artículo científico publicado en 2013

Germline AGO2 mutations impair RNA interference and human neurological development

artículo científico publicado en 2020

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

artículo científico publicado en 2017

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

artículo científico publicado en 2018

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

artículo científico publicado en 2019

Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.

artículo científico publicado en 2013

MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization

artículo científico publicado en 2020

Metabolic cutis laxa syndromes

artículo científico publicado en 2011

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

artículo científico publicado en 2016

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

scientific article published on 01 August 2020

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

artículo científico publicado en 2012

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

artículo científico publicado en 2011

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa

scientific article published on 17 May 2020

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

artículo científico publicado en 2018

Perinatal and early infantile symptoms in congenital disorders of glycosylation

artículo científico publicado en 2013

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

scientific article published on 25 April 2020

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

scientific article published on 10 August 2011

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

artículo científico publicado en 2021

Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.

artículo científico publicado en 2014

Lista de obras de

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.

Cutis Laxa

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature

Delayed Diagnosis of Danon Disease in Patients Presenting With Isolated Cardiomyopathy

Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

Early clinical manifestations and eating patterns in patients with urea cycle disorders

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Germline AGO2 mutations impair RNA interference and human neurological development

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia.

MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization

Metabolic cutis laxa syndromes

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

Perinatal and early infantile symptoms in congenital disorders of glycosylation

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.