List of works - Carlos M. Restrepo

A Novel Splice-Site Mutation in the <i>ELN</i> Gene Suggests an Alternative Mechanism for Vascular Elastinopathies

scientific article published on 17 December 2020

A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy.

scientific article published on 5 March 2018

A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

scientific article

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

scientific article published on 4 April 2013

A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene.

scientific article published in February 2013

BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure.

scientific article published on 12 August 2014

CFTR mutations in three Latin American countries

scientific article published on 01 April 2000

CITED2 mutations potentially cause idiopathic premature ovarian failure.

scientific article published on 16 June 2012

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

scientific article published on 01 August 2015

Genetics and genomic medicine in Colombia

scientific article

Identification of clinically relevant phenotypes in patients with Ebstein anomaly

scientific article published on 22 March 2018

Improving the evaluation of milestones for students completing a clinical genetics elective

article

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.

scientific article published in March 2006

Population data on 15 autosomal STRs in a sample from Colombia.

scientific article

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

scientific article published on 29 May 2012

Screening for mutations of the FOXO4 gene in premature ovarian failure patients.

scientific article published on 2 December 2011

Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder

scientific article

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype.

scientific article

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology

scientific article

List of works by Carlos M. Restrepo

A Novel Splice-Site Mutation in the <i>ELN</i> Gene Suggests an Alternative Mechanism for Vascular Elastinopathies

A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy.

A de novo 14q12q13.3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in the KRT1 gene.

BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure.

CFTR mutations in three Latin American countries

CITED2 mutations potentially cause idiopathic premature ovarian failure.

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Genetics and genomic medicine in Colombia

Identification of clinically relevant phenotypes in patients with Ebstein anomaly

Improving the evaluation of milestones for students completing a clinical genetics elective

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.

Population data on 15 autosomal STRs in a sample from Colombia.

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Screening for mutations of the FOXO4 gene in premature ovarian failure patients.

Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder

Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype.

Transcriptional regulator PRDM12 is essential for human pain perception

Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology