List of works - Gabriela M Repetto

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

scientific article

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

scientific article published on 28 March 2016

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

scientific article

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

scientific article published on 09 August 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.

scientific article

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

scientific article published on 30 October 2014

Cleft Palate, Interdisciplinary Diagnosis, and Treatment.

scientific article published on 28 July 2015

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

article

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

scientific article published on 01 April 1998

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

scientific article

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

scientific article published on 01 September 2012

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

scientific article published in 2022

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

scientific article published on 03 February 2020

Genetic structure characterization of Chileans reflects historical immigration patterns

scientific article (publication date: 17 March 2015)

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

scientific article

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.

scientific article

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

scientific article published in September 1998

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

scientific article

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

scientific article published on 12 February 2020

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

scientific article

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

scientific article

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

scientific article published in February 1998

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

scientific article published on 29 August 2012

Pathogenesis of preeclampsia: the genetic component

scientific article published on December 2011

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

scientific article

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

scientific article published on 11 December 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

scientific article

mtDNA mutations in Chilean patients with optic neuropathy ⬇️

scientific article published on November 1, 2001

List of works by 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 ⬇️