Lista de obras - Francesca Boaretto - Dominio Público Uruguay

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

artículo científico publicado en 2000

A new mutation in two siblings with cystinosis presenting with Bartter syndrome.

artículo científico publicado en 2004

A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype.

artículo científico publicado en 2013

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

article

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

artículo científico publicado en 2016

Correction to: Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database

article

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients

artículo científico publicado en 2016

Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26

scientific article published on 12 September 2006

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

artículo científico publicado en 2010

High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites ⬇️

artículo científico publicado en 2014

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.

artículo científico publicado en 2013

Localization of a new highly repeated DNA sequence of Lemur catta (Lemuridae, Strepsirhini)

artículo científico publicado en 2002

Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling

artículo científico publicado en 2016

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

artículo científico publicado en 2017

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database

article

Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease

artículo científico publicado en 2014

Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia

artículo científico publicado en 2015

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.

artículo científico publicado en 2010

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

artículo científico publicado en 2009

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas

artículo científico publicado en 2010

The pheochromocytoma and paraganglioma syndrome: founder effects and the PGL 1 syndrome

scientific article published on 14 March 2009

Von Hippel-Lindau disease: an evaluation of natural history and functional disability

artículo científico publicado en 2016

Lista de obras de Francesca Boaretto

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

A new mutation in two siblings with cystinosis presenting with Bartter syndrome.

A novel mutation in the upstream open reading frame of the CDKN1B gene causes a MEN4 phenotype.

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

Correction to: Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients

Genome-wide scan supports the existence of a susceptibility locus for schizophrenia and bipolar disorder on chromosome 15q26

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites ⬇️

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.

Localization of a new highly repeated DNA sequence of Lemur catta (Lemuridae, Strepsirhini)

Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database

Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease

Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia

Novel mutations in the L1CAM gene support the complexity of L1 syndrome.

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas

The pheochromocytoma and paraganglioma syndrome: founder effects and the PGL 1 syndrome

Von Hippel-Lindau disease: an evaluation of natural history and functional disability