Lista de obras - Emanuele Agolini - Dominio Público Uruguay

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

artículo científico publicado en 2020

A case report on filamin A gene mutation and progressive pulmonary disease in an infant: A lung tissued derived mesenchymal stem cell study

article

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations

scientific article published on 02 May 2020

ALG12-CDG: novel glycophenotype insights endorse the molecular defect

scientific article published on 16 September 2019

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene

scientific article published on 01 June 2019

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

artículo científico publicado en 2021

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation

scientific article published on 20 December 2018

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

scientific article published on 12 December 2019

COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells

scientific article published on 27 August 2020

CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

artículo científico publicado en 2020

CUGC for lysinuric protein intolerance (LPI)

scientific article published on 06 April 2020

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome

artículo científico publicado en 2020

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

artículo científico publicado en 2019

Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres

artículo científico publicado en 2019

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

scientific article published on 12 March 2012

Exon-Trapping Assay Improves Clinical Interpretation of <i>COL11A1</i> and <i>COL11A2</i> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

artículo científico publicado en 2020

Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review

artículo científico publicado en 2017

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6

scientific article published on 20 February 2020

Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1

artículo científico publicado en 2018

Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers

scientific article published on 22 November 2019

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

artículo científico publicado en 2018

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

scientific article published on 19 October 2019

Inhibition of HECT E3 ligases as potential therapy for COVID-19

artículo científico publicado en 2021

KBG syndrome: Common and uncommon clinical features based on 31 new patients

artículo científico publicado en 2020

Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature

scientific article published on 12 August 2020

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl

artículo científico publicado en 2020

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

artículo científico publicado en 2011

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

artículo científico publicado en 2010

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

artículo científico publicado en 2014

Novel EXT2 missense variants in a family with autosomal recessive EXT2-related syndrome (AREXT2): further evidences on the phenotype

artículo científico publicado en 2018

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

scientific article published on 25 November 2019

Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome

artículo científico publicado en 2013

Pathogenic Variants in GPC4 Cause Keipert Syndrome

scientific article published on 11 April 2019

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14

artículo científico publicado en 2018

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.

artículo científico publicado en 2018

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

artículo científico publicado en 2020

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

scientific article published on 15 October 2018

Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres

artículo científico publicado en 2018

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations

artículo científico publicado en 2020

The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype

scientific article published on 29 January 2020

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease

article

V600E Inhibitor (Vemurafenib) for V600E Mutated Low Grade Gliomas

artículo científico publicado en 2018

Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome

artículo científico publicado en 2019

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

artículo científico publicado en 2014

Lista de obras de Emanuele Agolini

14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies

A case report on filamin A gene mutation and progressive pulmonary disease in an infant: A lung tissued derived mesenchymal stem cell study

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations

ALG12-CDG: novel glycophenotype insights endorse the molecular defect

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells

CUGC for hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome

CUGC for lysinuric protein intolerance (LPI)

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome

Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review

Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

Exon-Trapping Assay Improves Clinical Interpretation of <i>COL11A1</i> and <i>COL11A2</i> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6

Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1

Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

Inhibition of HECT E3 ligases as potential therapy for COVID-19

KBG syndrome: Common and uncommon clinical features based on 31 new patients

Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature

Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

Novel EXT2 missense variants in a family with autosomal recessive EXT2-related syndrome (AREXT2): further evidences on the phenotype

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome

Pathogenic Variants in GPC4 Cause Keipert Syndrome

Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism.

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations

The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype

Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease

V600E Inhibitor (Vemurafenib) for V600E Mutated Low Grade Gliomas

Vemurafenib Treatment of Pleomorphic Xanthoastrocytoma in a Child With Down Syndrome

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.