Lista de obras - Giorgia Mandrile - Dominio Público Uruguay

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

artículo científico publicado en 2013

A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.

artículo científico publicado en 2014

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.

artículo científico publicado en 2014

BClI polymorphism of the glucocorticoid receptor gene is associated with increased obesity, impaired glucose metabolism and dyslipidaemia in patients with Addison's disease

article

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia

artículo científico publicado en 2014

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

artículo científico publicado en 2016

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

artículo científico publicado en 2017

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type

artículo científico publicado en 2014

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

artículo científico publicado en 2017

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans

artículo científico publicado en 2015

Identification of the DNA methylation signature of Mowat-Wilson syndrome

artículo científico publicado en 2024

In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis

artículo científico publicado en 2016

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

artículo científico publicado en 2014

Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.

artículo científico publicado en 2010

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

artículo científico publicado en 2017

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

artículo científico publicado en 2011

Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria

artículo científico publicado el 1 de abril de 2010

Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance.

artículo científico publicado en 2008

Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer.

artículo científico publicado en 2007

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation

artículo científico publicado en 2014

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients

artículo científico publicado en 2014

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

artículo científico publicado en 2016

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

article

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria

article

Lista de obras de Giorgia Mandrile

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.

BClI polymorphism of the glucocorticoid receptor gene is associated with increased obesity, impaired glucose metabolism and dyslipidaemia in patients with Addison's disease

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans

Identification of the DNA methylation signature of Mowat-Wilson syndrome

In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria

Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance.

Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer.

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria