Gabriela Repetto
Gabriela Repetto
Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del
Verified email at udd.cl
TitleCited byYear
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
6182004
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
3601992
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), 1249-1259, 1992
2651992
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
2212009
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
1272015
Pathogenesis of preeclampsia: the genetic component
FJ Valenzuela, A Pérez-Sepúlveda, MJ Torres, P Correa, GM Repetto, ...
Journal of pregnancy 2012, 2012
1252012
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
1162012
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
1051998
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
902014
Genetic structure characterization of Chileans reflects historical immigration patterns
S Eyheramendy, FI Martinez, F Manevy, C Vial, GM Repetto
Nature communications 6, 6472, 2015
702015
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 (6), 763, 2009
602009
Consenso nacional de fibrosis quística
D Sánchez, H Pérez, M Angélica, C Boza, M Lina, S Lezana, I Vila, ...
Revista chilena de pediatría 72 (4), 356-380, 2001
542001
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
502009
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate
S Tomatsu, T Dieter, IV Schwartz, P Sarmient, R Giugliani, LA Barrera, ...
Journal of human genetics 49 (9), 490-494, 2004
492004
Y chromosome sequences in Turner's syndrome: association with virilization and gonadoblastoma
EE Mancilla, H Poggi, G Repetto, H Rumie, H García, F Ugarte, S Hidalgo, ...
Journal of Pediatric Endocrinology and Metabolism 16 (8), 1157-1164, 2003
492003
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
452016
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
442011
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
392017
Clinical features of chromosome 22q11. 2 microdeletion syndrome in 208 Chilean patients
GM Repetto, ML Guzmán, A Puga, JF Calderón, CP Astete, M Aracena, ...
Clinical genetics 76 (5), 465-470, 2009
342009
Prominent, constricted ears with malformed condyle of the mandible
M Jampol, G Repetto, DA Keith, H Curtin, J Remensnyder, LB Holmes
American journal of medical genetics 75 (5), 449-452, 1998
341998
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Articles 1–20