Lista de obras - Gabriela M Repetto - Dominio Público Uruguay

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

artículo científico publicado en 2004

Accuracy of a Genetic Test for the Diagnosis of Hypolactasia in Chilean Children: Comparison With the Breath Test

artículo científico publicado en 2016

Angiotensin-converting enzyme insertion/deletion polymorphism is associated with severe hypoxemia in pediatric ARDS.

artículo científico publicado en 2011

Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis

artículo científico publicado en 2019

Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement

scientific article published on 01 November 2016

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study.

artículo científico publicado en 2014

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies.

artículo científico publicado en 2014

Cleft Palate, Interdisciplinary Diagnosis, and Treatment.

artículo científico publicado en 2015

Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients

article

Complex familial rearrangement of chromosome 9p24.3 detected by FISH

artículo científico publicado en 1998

Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency

artículo científico publicado en 2015

Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations

article

De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome

artículo científico publicado en 2012

Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome

artículo científico publicado en 2022

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

artículo científico publicado en 2020

Genetic structure characterization of Chileans reflects historical immigration patterns

artículo científico publicado en 2015

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

artículo científico publicado en 2012

Growth in Chilean infants with chromosome 22q11 microdeletion syndrome

article

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

artículo científico publicado en 2004

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization

artículo científico publicado en 1998

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene

artículo científico publicado en 2009

Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness

artículo científico publicado en 2020

Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results

artículo científico publicado en 2009

Molecular diagnosis in patients with retinoblastoma: Report of a series of cases

artículo científico publicado en 2016

New syndrome? Prominent, constricted ears with malformed condyle of the mandible

artículo científico publicado en 1998

Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome.

artículo científico publicado en 2012

Pathogenesis of preeclampsia: the genetic component

artículo científico publicado en 2011

Practical guidelines for managing adults with 22q11.2 deletion syndrome

artículo científico publicado en 2015

Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain

article

Rare diseases in Chile: challenges and recommendations in universal health coverage context

artículo científico publicado en 2019

Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome

scientific article published on 11 June 2019

Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior

scientific article published on 04 March 2019

The genetic basis of DOORS syndrome: an exome-sequencing study

artículo científico publicado en 2013

mtDNA mutations in Chilean patients with optic neuropathy ⬇️

artículo científico publicado el 1 de noviembre de 2001

Lista de obras de Gabriela M Repetto

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

Accuracy of a Genetic Test for the Diagnosis of Hypolactasia in Chilean Children: Comparison With the Breath Test

Angiotensin-converting enzyme insertion/deletion polymorphism is associated with severe hypoxemia in pediatric ARDS.

Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis

Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement

Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study.

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies.

Cleft Palate, Interdisciplinary Diagnosis, and Treatment.

Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients

Complex familial rearrangement of chromosome 9p24.3 detected by FISH

Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency

Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations

De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome

Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Genetic structure characterization of Chileans reflects historical immigration patterns

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

Growth in Chilean infants with chromosome 22q11 microdeletion syndrome

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene

Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness

Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results

Molecular diagnosis in patients with retinoblastoma: Report of a series of cases

New syndrome? Prominent, constricted ears with malformed condyle of the mandible

Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome.

Pathogenesis of preeclampsia: the genetic component

Practical guidelines for managing adults with 22q11.2 deletion syndrome

Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain

Rare diseases in Chile: challenges and recommendations in universal health coverage context

Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome

Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior

The genetic basis of DOORS syndrome: an exome-sequencing study

mtDNA mutations in Chilean patients with optic neuropathy ⬇️