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Gabriela Repetto
Gabriela Repetto
Rare Diseases Program, Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana
Verified email at udd.cl - Homepage
Title
Cited by
Cited by
Year
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4)
CJ Gallione, GM Repetto, E Legius, AK Rustgi, SL Schelley, S Tejpar, ...
The Lancet 363 (9412), 852-859, 2004
8492004
Direct Gene Transfer into Nonhuman Primate Myofibers In Vivo
S Jiao, P Williams, RK Berg, BA Hodgeman, L Liu, G Repetto, JA Wolff
Human Gene Therapy 3 (1), 21-33, 1992
4021992
Genetic modifiers of liver disease in cystic fibrosis
JR Bartlett, KJ Friedman, SC Ling, RG Pace, SC Bell, B Bourke, ...
Jama 302 (10), 1076-1083, 2009
3422009
Practical guidelines for managing adults with 22q11. 2 deletion syndrome
WLA Fung, NJ Butcher, G Costain, DM Andrade, E Boot, EWC Chow, ...
Genetics in Medicine 17 (8), 599-609, 2015
3062015
Expression of naked plasmids by cultured myotubes and entry of plasmids into T tubules and caveolae of mammalian skeletal muscle
JA Wolff, ME Dowty, S Jiao, G Repetto, RK Berg, JJ Ludtke, P Williams, ...
Journal of Cell Science 103 (4), 1249-1261, 1992
2911992
The genetic basis of DOORS syndrome: an exome-sequencing study
PM Campeau, D Kasperaviciute, JT Lu, LC Burrage, C Kim, M Hori, ...
The Lancet Neurology 13 (1), 44-58, 2014
2892014
Pathogenesis of preeclampsia: the genetic component
FJ Valenzuela, A Pérez-Sepúlveda, MJ Torres, P Correa, GM Repetto, ...
Journal of pregnancy 2012 (1), 632732, 2012
2052012
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
HE Shamseldin, M Alshammari, T Al-Sheddi, MA Salih, H Alkhalidi, ...
Journal of medical genetics 49 (4), 234-241, 2012
2002012
Genetic structure characterization of Chileans reflects historical immigration patterns
S Eyheramendy, FI Martinez, F Manevy, C Vial, GM Repetto
Nature communications 6 (1), 6472, 2015
1642015
TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features
S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli, P Verstreken, ...
Neurology 87 (1), 77-85, 2016
1202016
Genetic contributors to risk of schizophrenia in the presence of a 22q11. 2 deletion
I Cleynen, W Engchuan, MS Hestand, T Heung, AM Holleman, ...
Molecular psychiatry 26 (8), 4496-4510, 2021
1162021
Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization
GM Repetto, LM White, PJ Bader, D Johnson, JHM Knoll
American journal of medical genetics 79 (2), 82-89, 1998
1151998
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11. 2 deletion syndrome
RW Davies, AM Fiksinski, EJ Breetvelt, NM Williams, SR Hooper, ...
Nature medicine 26 (12), 1912-1918, 2020
1072020
Rare genome-wide copy number variation and expression of schizophrenia in 22q11. 2 deletion syndrome
AS Bassett, C Lowther, D Merico, G Costain, EWC Chow, ...
American Journal of Psychiatry 174 (11), 1054-1063, 2017
952017
Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study
GM Repetto, ML Guzmán, I Delgado, H Loyola, M Palomares, G Lay-Son, ...
BMJ open 4 (11), e005041, 2014
762014
Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
RKSM Isabel Huang-Doran, Louise S. Bicknell, Francis M
Diabetes 60 (3), 925-935, 2011
722011
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results
R Dorfman, W Li, L Sun, F Lin, Y Wang, A Sandford, PD Paré, K McKay, ...
Human genetics 126, 763-778, 2009
712009
Mapping subcortical brain alterations in 22q11. 2 deletion syndrome: Effects of deletion size and convergence with idiopathic neuropsychiatric illness
CRK Ching, BA Gutman, D Sun, J Villalon Reina, A Ragothaman, D Isaev, ...
American Journal of Psychiatry 177 (7), 589-600, 2020
682020
Consenso nacional de fibrosis quística
I Sánchez, MA Pérez, ML Boza, V Lezana, MA Vila, G Repetto, ...
Revista chilena de pediatría 72 (4), 356-380, 2001
682001
Later‐onset congenital central hypoventilation syndrome due to a heterozygous 24‐polyalanine repeat expansion mutation in the PHOX2B gene
GM Repetto, RJ Corrales, SG Abara, L Zhou, EM Berry‐Kravis, CM Rand, ...
Acta paediatrica 98 (1), 192-195, 2009
652009
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