Lista de obras -

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

artículo científico publicado en 2010

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype

scientific article published on 24 April 2019

ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion.

artículo científico publicado en 2013

Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.

artículo científico publicado en 2014

Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity

artículo científico publicado en 2011

Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing

artículo científico publicado en 2007

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient

artículo científico publicado en 2015

Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatite.

artículo científico publicado en 2011

Functional comparison of chronological and in vitro aging: differential role of the cytoskeleton and mitochondria in mesenchymal stromal cells

artículo científico publicado en 2012

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

artículo científico publicado en 2008

Insights into mesenchymal stem cell aging: involvement of antioxidant defense and actin cytoskeleton.

artículo científico publicado en 2009

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.

artículo científico publicado en 2018

MIA is a potential biomarker for tumour load in neurofibromatosis type 1

artículo científico publicado en 2011

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

artículo científico publicado en 2008

Molecular markers reveal exclusively clonal reproduction in Trichophyton rubrum

artículo científico publicado en 1999

Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia

artículo científico publicado en 2008

Multiple roles for neurofibromin in skeletal development and growth

article

Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.

artículo científico publicado en 2014

Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing

artículo científico publicado en 2012

Neurofibromin (Nf1) is required for skeletal muscle development

artículo científico publicado en 2011

Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models

artículo científico publicado en 2014

RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy

artículo científico publicado en 2019

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

artículo científico publicado en 2014

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3

artículo científico publicado en 2019

Lista de obras de

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype

ClC-7 expression levels critically regulate bone turnover, but not gastric acid secretion.

Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.

Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity

Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient

Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatite.

Functional comparison of chronological and in vitro aging: differential role of the cytoskeleton and mitochondria in mesenchymal stromal cells

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Insights into mesenchymal stem cell aging: involvement of antioxidant defense and actin cytoskeleton.

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.

MIA is a potential biomarker for tumour load in neurofibromatosis type 1

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

Molecular markers reveal exclusively clonal reproduction in Trichophyton rubrum

Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia

Multiple roles for neurofibromin in skeletal development and growth

Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1.

Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing

Neurofibromin (Nf1) is required for skeletal muscle development

Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models

RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3