Lista de obras - Davor Lessel - Dominio Público Uruguay

A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.

artículo científico publicado en 2010

A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia

scientific article published on 22 November 2018

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

artículo científico publicado en 2018

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

artículo científico publicado en 2018

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

artículo científico publicado en 2018

Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors

scientific article published on 01 April 2019

Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

artículo científico publicado en 2014

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

scholarly article published in Nature Genetics

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

scholarly article published in Nature Genetics

Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry

scientific article published in Nature Communications

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

artículo científico publicado en 2020

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

article

Carpal tunnel syndrome is associated with high fibrinogen and fibrinogen deposits

artículo científico publicado en 2014

Chromatin retention of DNA damage sensors DDB2 and XPC through loss of p97 segregase causes genotoxicity

artículo científico publicado en 2014

Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study

artículo científico publicado en 2018

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

article by Padhraig Gormley et al published September 2018 in Neuron

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies

artículo científico publicado en 2017

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

artículo científico publicado en 2011

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2018

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

artículo científico publicado en 2015

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

artículo científico publicado en 2017

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry

artículo científico publicado en 2013

Exome Sequencing in Children.

artículo científico publicado en 2019

Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia.

artículo científico publicado en 2019

Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.

artículo científico publicado en 2018

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

artículo científico publicado en 2017

Genome-wide association analysis suggests novel loci for Hashimoto's thyroiditis

scientific article published on 03 October 2018

Germline AGO2 mutations impair RNA interference and human neurological development

artículo científico publicado en 2020

Germline variation at 8q24 and prostate cancer risk in men of European ancestry

artículo científico publicado en 2018

Hereditary Syndromes with Signs of Premature Aging

scientific article published on 01 July 2019

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

Integrated Molecular Characterization of Testicular Germ Cell Tumors

article by Hui Shen et al published 12 June 2018 in Cell Reports

KIT mutations in primary mediastinal B-cell lymphoma.

artículo científico publicado en 2014

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

scientific article published on 11 September 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

artículo científico publicado en 2020

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

artículo científico publicado en 2017

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

artículo científico publicado en 2014

Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability

artículo científico publicado en 2020

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

artículo científico publicado en 2020

Onset of a fulminant malignant hyperthermia crisis. Case report of a 74-year-old patient with previously subclinical central core disease

artículo científico publicado en 2012

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

scientific article published on 27 June 2019

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

artículo científico publicado en 2016

Phenotypes and genotypes in individuals with SMC1A variants.

artículo científico publicado en 2017

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

artículo científico publicado en 2020

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Recessive mutations in VPS13D cause childhood-onset movement disorders

artículo científico publicado en 2018

Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population

artículo científico publicado en 2012

SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication

scientific article published on 17 July 2019

Shared heritability and functional enrichment across six solid cancers

artículo científico publicado en 2019

Shared heritability and functional enrichment across six solid cancers

Suppressor of cytokine signaling 1 gene mutation status as a prognostic biomarker in classical Hodgkin lymphoma.

artículo científico publicado en 2015

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

artículo científico publicado en 2017

The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor

artículo científico publicado en 2020

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

artículo científico publicado en 2019

The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5

scientific article published on 13 September 2016

Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

artículo científico publicado en 2021

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

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies

artículo científico publicado en 2020

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

artículo científico publicado en 2021

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

artículo científico publicado en 2016

Werner syndrome. A prototypical form of segmental progeria

artículo científico publicado en 2012

Lista de obras de Davor Lessel

A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.

A recurrent de-novo ANO3 mutation causes early-onset generalized dystonia

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors

Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

Author Correction: Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

Author Correction: Germline variation at 8q24 and prostate cancer risk in men of European ancestry

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

Carpal tunnel syndrome is associated with high fibrinogen and fibrinogen deposits

Chromatin retention of DNA damage sensors DDB2 and XPC through loss of p97 segregase causes genotoxicity

Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry

Exome Sequencing in Children.

Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia.

Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features

Genome-wide association analysis suggests novel loci for Hashimoto's thyroiditis

Germline AGO2 mutations impair RNA interference and human neurological development

Germline variation at 8q24 and prostate cancer risk in men of European ancestry

Hereditary Syndromes with Signs of Premature Aging

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Integrated Molecular Characterization of Testicular Germ Cell Tumors

KIT mutations in primary mediastinal B-cell lymphoma.

Lessons learned from additional research analyses of unsolved clinical exome cases

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability

Nine newly identified individuals refine the phenotype associated with MYT1L mutations

Onset of a fulminant malignant hyperthermia crisis. Case report of a 74-year-old patient with previously subclinical central core disease

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

Phenotypes and genotypes in individuals with SMC1A variants.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

Recessive mutations in VPS13D cause childhood-onset movement disorders

Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population

SPRTN protease and checkpoint kinase 1 cross-activation loop safeguards DNA replication

Shared heritability and functional enrichment across six solid cancers

Shared heritability and functional enrichment across six solid cancers

Suppressor of cytokine signaling 1 gene mutation status as a prognostic biomarker in classical Hodgkin lymphoma.

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

The CHEK2 Variant C.349A>G Is Associated with Prostate Cancer Risk and Carriers Share a Common Ancestor

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5

Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

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

Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

Werner syndrome. A prototypical form of segmental progeria