Lista de obras -

A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1

scientific article published on 16 July 2019

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.

artículo científico publicado en 2018

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

scientific article published on 11 November 2019

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports

artículo científico publicado en 2022

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

artículo científico publicado en 2020

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium

artículo científico publicado en 2016

Genetic education for primary care providers: improving attitudes, knowledge, and confidence

artículo científico publicado en 2009

Genetics and Precision Medicine: Heritable Thoracic Aortic Disease

scientific article published on 31 August 2019

Genetics: schizophrenia

artículo científico publicado en 2009

Germline mutations in MAP3K6 are associated with familial gastric cancer

artículo científico publicado en 2014

Grange syndrome due to homozygous YY1AP1 missense rare variants

scientific article published on 21 October 2019

Interactive genetic counseling role-play: a novel educational strategy for family physicians

artículo científico publicado en 2008

Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes ⬇️

artículo científico publicado el 1 de enero de 2013

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2

artículo científico publicado en 2009

Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease ⬇️

artículo científico publicado el 26 de agosto de 2010

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

artículo científico publicado en 2010

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

artículo científico publicado en 2009

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome ⬇️

artículo científico publicado el 27 de febrero de 2011

Performance of Black and Indigenous applicants in a medical school admissions process

artículo científico publicado en 2021

Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients

artículo científico publicado en 2013

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

artículo científico publicado en 2019

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

artículo científico publicado en 2016

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

artículo científico publicado en 2012

Lista de obras de

A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports

Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium

Genetic education for primary care providers: improving attitudes, knowledge, and confidence

Genetics and Precision Medicine: Heritable Thoracic Aortic Disease

Genetics: schizophrenia

Germline mutations in MAP3K6 are associated with familial gastric cancer

Grange syndrome due to homozygous YY1AP1 missense rare variants

Interactive genetic counseling role-play: a novel educational strategy for family physicians

Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes ⬇️

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2

Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease ⬇️

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome ⬇️

Performance of Black and Indigenous applicants in a medical school admissions process

Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man