Repetto L, M. Gabriela: search on Z-Library

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1

Hair cortisol: A new tool for evaluating stress in programs of stress management

Iglesias, Silvia, Jacobsen, Darío, Gonzalez, Diego, Azzara, Sergio, Repetto, Esteban M., Jamardo, Juan, Gómez, Sabrina Garín, Mesch, Viviana, Berg, Gabriela, Fabre, Bibiana

Journal:

Year:

2015

Language:

english

File:

PDF, 381 KB

english, 2015

2

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

Ysunza, Pablo Antonio, Repetto, Gabriela M., Pamplona, Maria Carmen, Calderon, Juan F., Shaheen, Kenneth, Chaiyasate, Konkgrit, Rontal, Matthew

Journal:

BioMed Research International

Year:

2015

Language:

english

File:

PDF, 1.28 MB

english, 2015

3

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

Rozas, M. Fernanda, Benavides, Felipe, León, Luis, Repetto, Gabriela M.

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 1.66 MB

english, 2019

4

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

Encina, Gonzalo, Castillo-Laborde, Carla, Lecaros, Juan A., Dubois-Camacho, Karen, Calderón, Juan F., Aguilera, Ximena, Klein, Andrés D., Repetto, Gabriela M.

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 808 KB

english, 2019

5

Prominent, constricted ears with malformed condyle of the mandible

Jampol, Michael, Repetto, Gabriela, Keith, David A., Curtin, Hugh, Remensnyder, John, Holmes, Lewis B.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 318 KB

english, 1998

6

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

Repetto, Gabriela M., Wagstaff, Joseph, Korf, Bruce R., Knoll, Joan H.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 153 KB

english, 1998

7

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

Repetto, Gabriela M., White, Lisa M., Bader, Patricia J., Johnson, Debra, Knoll, Joan H.M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 234 KB

english, 1998

8

High cognitive outcome in an adolescent with mut? methylmalonic acidemia

Varvogli, Liza, Repetto, Gabriela M., Waisbren, Susan E., Levy, Harvey L.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 75 KB

english, 2000

9

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

Robert Pogue, Nadia Ehtesham, Gabriela M. Repetto, Roque Carrero-Valenzuela, Cristina Bazán de Casella, Silvia Pintos de Pons, Maria Luisa Martínez-Frías, Solange Heuertz, Valerie Cormier-Daire, Danie

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 124 KB

english, 2005

10

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

Pablo Cruces, Franco Díaz, Alonso Puga, Benjamín Erranz, Alejandro Donoso, Cristóbal Carvajal, Jan Wilhelm, Gabriela M. Repetto

Journal:

Intensive Care Medicine

Year:

2012

Language:

english

File:

PDF, 233 KB

english, 2012

11

Percutaneous treatment of transplant renal artery stenosis in children

Horacio A. Repetto, Laila Rodríguez-Rilo, Esteban Mendaro, Laura Basso, Hugo Galvez, Gabriela Morrone, Luis A. Vazquez

Journal:

Pediatric Nephrology

Year:

2004

Language:

english

File:

PDF, 174 KB

english, 2004

12

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

Shunji Tomatsu, Tatiana Dieter, Ida V. Schwartz, Piedad Sarmient, Roberto Giugliani, Luis A. Barrera, Norberto Guelbert, Raquel Kremer, Gabriela M. Repetto, Monica A. Gutierrez, Tatsuo Nishioka, Olga

Journal:

Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 194 KB

english, 2004

13

Metalloproteases 2 and 9, Lp-PLA2 and Lipoprotein Profile in Coronary Patients

Maria Luz Muzzio, Veronica Miksztowicz, Fernando Brites, Daniel Aguilar, Esteban Martin Repetto, Regina Wikinski, Marcelo Tavella, Laura Schreier, Gabriela Alicia Berg

Journal:

Archives of Medical Research

Year:

2009

Language:

english

File:

PDF, 168 KB

english, 2009

14

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

Gabriela M Repetto, Raul J Corrales, Selim G Abara, Lili Zhou, Elizabeth M Berry-Kravis, Casey M Rand, Debra E Weese-Mayer

Journal:

Acta Paediatrica

Year:

2009

Language:

english

File:

PDF, 159 KB

english, 2009

15

Growth in Chilean infants with chromosome 22q11 microdeletion syndrome

Maria Luisa Guzman, Iris Delgado, Guillermo Lay-Son, Edward Willans, Alonso Puga, Gabriela M. Repetto

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 264 KB

english, 2012

16

Usefulness of pentoxifylline to improve semen quality

Gabriela Ruth Mendeluk, Patricia H. Chenlo, Melba Sardi-Segovia, Susana Curi, Julia Ariagno, Herberto Repetto, Mercedes N. Pugliese, Luis A. Palaoro

Journal:

Fertility and Sterility

Year:

2010

Language:

english

File:

PDF, 46 KB

english, 2010

17

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

Carol J Gallione, Gabriela M Repetto, Eric Legius, Anil K Rustgi, Susan L Schelley, Sabine Tejpar, Grant Mitchell, Éric Drouin, Cornelius JJ Westermann, Douglas A Marchuk

Journal:

Year:

2004

Language:

english

File:

PDF, 125 KB

english, 2004

18

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

Javiera A. Catalán, Fernando A. Rodríguez, María J. Yubero, Francis Palisson, María J. Gana, Susanne M. Krämer, Gabriela M. Repetto

Journal:

International Journal of Dermatology

Year:

2012

Language:

english

File:

PDF, 308 KB

english, 2012

19

Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome

Guillermo Lay-Son, Mirta Palomares, M. Luisa Guzman, Marcos Vasquez, Alonso Puga, Gabriela M. Repetto

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2012

Language:

english

File:

PDF, 140 KB

english, 2012

20

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

Guillermo Lay-Son, Alonso Puga, Pedro Astudillo, Gabriela M. Repetto

Journal:

Journal of Cystic Fibrosis

Year:

2011

Language:

english

File:

PDF, 181 KB

english, 2011

21

Life events are positively associated with luteinizing hormone in middle age adult men: role of cortisol as a third variable

Fabre, Bibiana, Machulsky, Nahuel Fernandez, Grosman, Halina, Gonzalez, Diego, Oneto, Adriana, Repetto, Esteban M., Mesch, Viviana, Nolazco, Carlos, Mazza, Osvaldo, Gidron, Yori, Berg, Gabriela

Journal:

Year:

2014

Language:

english

File:

PDF, 273 KB

english, 2014

22

Direct Gene Transfer into Nonhuman Primate Myofibers In Vivo

Jiao, Shoushu, Williams, Phillip, Berg, Randi K., Hodgeman, Bradley A., Liu, Lijian, Repetto, Gabriela, Wolff, Jon A.

Journal:

Human Gene Therapy

Year:

1992

File:

PDF, 3.60 MB

1992

23

Genetic structure characterization of Chileans reflects historical immigration patterns

Eyheramendy, Susana, Martinez, Felipe I., Manevy, Federico, Vial, Cecilia, Repetto, Gabriela M.

Journal:

Nature Communications

Year:

2015

Language:

english

File:

PDF, 697 KB

english, 2015

24

Pathogenesis of Preeclampsia: The Genetic Component

Valenzuela, Francisco J., Pérez-Sepúlveda, Alejandra, Torres, María J., Correa, Paula, Repetto, Gabriela M., Illanes, Sebastián E.

Journal:

Journal of Pregnancy

Year:

2012

Language:

english

File:

PDF, 115 KB

english, 2012

25

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

Lay‐Son, Guillermo, Espinoza, Karena, Vial, Cecilia, Rivera, Juan C., Guzmán, María L., M. Repetto, Gabriela

Journal:

Jornal de Pediatria (Versão em Português)

Year:

2015

File:

PDF, 735 KB

2015

26

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

Lay-Son, Guillermo, Espinoza, Karena, Vial, Cecilia, Rivera, Juan C., Guzmán, María L., Repetto, Gabriela M.

Journal:

Jornal de Pediatria

Year:

2015

File:

PDF, 709 KB

2015

27

MP68-16 ASSOCIATION OF GENETIC VARIANTS WITH THE OCCURRENCE OF BLADDER CANCER IN AN ARSENIC-EXPOSED POPULATION

Fernandez, Mario I., Vial, Cecilia, Valdebenito, Patricio, Chaparro, Eduardo, Espinoza, Karena, Repetto, Gabriela

Journal:

The Journal of Urology

Year:

2015

Language:

english

File:

PDF, 416 KB

english, 2015

28

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

Ossandon, Diego, Kastner, Alan, Zanolli, Mario, Solanes, Federica, Pérez, Verónica, Repetto, Gabriela, Benavides, Felipe, Shields, Carol L.

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2016

Language:

english

File:

PDF, 313 KB

english, 2016

29

Secuenciación del gen CFTR en un grupo de pacientes chilenos con fibrosis quística

LAY-SON R, GUILLERMO, VÁSQUEZ D, MARCOS, PUGA Y, ALONSO, MANQUE M, PATRICIO, REPETTO L, GABRIELA

Journal:

Revista chilena de pediatría

Year:

2014

File:

PDF, 626 KB

2014

30

Diseño y validación del instrumento SALUFAM: un instrumento de valoración de la salud familiar con alto valor predictivo clínico para la atención primaria chilena

Puschel, Klaus, Repetto, Paula, Solar, María Olga, Soto, Gabriela, González, Karla

Journal:

Revista médica de Chile

Year:

2012

File:

PDF, 324 KB

2012

31

Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson’s disease

Butcher, Nancy J., Marras, Connie, Pondal, Margarita, Rusjan, Pablo, Boot, Erik, Christopher, Leigh, Repetto, Gabriela M., Fritsch, Rosemarie, Chow, Eva W. C., Masellis, Mario, Strafella, Antonio P.,

Journal:

Year:

2017

Language:

english

File:

PDF, 453 KB

english, 2017

32

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients

León, Luis E., Benavides, Felipe, Espinoza, Karena, Vial, Cecilia, Alvarez, Patricia, Palomares, Mirta, Lay-Son, Guillermo, Miranda, Macarena, Repetto, Gabriela M.

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 1.65 MB

english, 2017

33

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3CLINICAL PERSPECTIVE

Guo, Tingwei, Repetto, Gabriela M., McDonald McGinn, Donna M., Chung, Jonathan H., Nomaru, Hiroko, Campbell, Christopher L., Blonska, Anna, Bassett, Anne S., Chow, Eva W.C., Mlynarski, Elisabeth E., S

Journal:

Circulation Cardiovascular Genetics

Year:

2017

Language:

english

File:

PDF, 5.68 MB

english, 2017

34

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

Repetto, Gabriela M, Guzmán, M Luisa, Delgado, Iris, Loyola, Hugo, Palomares, Mirta, Lay-Son, Guillermo, Vial, Cecilia, Benavides, Felipe, Espinoza, Karena, Alvarez, Patricia

Journal:

Year:

2014

Language:

english

File:

PDF, 648 KB

english, 2014

35

Efficacy of gamification-based smartphone application for weight loss in overweight and obese adolescents: study protocol for a phase II randomized controlled trial

Timpel, Patrick, Cesena, Fernando Henpin Yue, da Silva Costa, Christiane, Soldatelli, Matheus Dorigatti, Gois, Emanuel, Castrillon, Eduardo, Díaz, Lina Johana Jaime, Repetto, Gabriela M., Hagos, Fanah

Journal:

Therapeutic Advances in Endocrinology and Metabolism

Year:

2018

Language:

english

File:

PDF, 166 KB

english, 2018

36

Mutaciones del gen del receptor 3 del Factor de Crecimiento de Fibroblasto (FGFR3) en pacientes chilenos con talla baja idiopática, hipocondroplasia y acondroplasia

Mancilla V, Edna E, Poggi M, Helena, Repetto L, Gabriela, García B, Cristian, Foradori C, Arnaldo, Cattani O, Andreina

Journal:

Revista médica de Chile

Year:

2003

File:

PDF, 49 KB

2003

37

Mutaciones del gen del receptor 3 del Factor de Crecimiento de Fibroblasto (FGFR3) en pacientes chilenos con talla baja idiopática, hipocondroplasia y acondroplasia

Mancilla V, Edna E, Poggi M, Helena, Repetto L, Gabriela, García B, Cristian, Foradori C, Arnaldo, Cattani O, Andreina

Journal:

Revista médica de Chile

Year:

2003

File:

PDF, 49 KB

2003

38

Cleft Palate, Interdisciplinary Diagnosis, and Treatment

Ysunza, Pablo Antonio, Pamplona, Maria Carmen, Repetto, Gabriela

Journal:

BioMed Research International

Year:

2015

Language:

english

File:

PDF, 1.14 MB

english, 2015

39

Efecto de las variantes de VKORC1 y CYP2C9 sobre la dosis de anticoagulantes orales en individuos chilenos

Benavides, Felipe, Grossman, Nicole, Poggi, Helena, Nieto, Elena, Bertrán, Antonio, Araos, Daniel, Vásquez, Marcos, Ibarra, Ignaz, Cáceres, Felipe, Espinoza, Karena, Lagos, Marcel, Repetto M, Gabriela

Journal:

Revista médica de Chile

Year:

2015

File:

PDF, 212 KB

2015

40

Corioamnionitis histológica en el recién nacido menor de 1 000 gramos. Incidencia y resultados perinatales

MORAES C, MARIO, CANCELA, MARÍA JOSÉ, REPETTO, MARIZELL, GUTIÉRREZ, CARMEN, FIOL, VERÓNICA, PIRIZ, GABRIELA, CASTILLO, EDGARDO, MEDINA, ESTRELLA, LATTOF, MÓNICA, BUSTOS, RAÚL

Journal:

Revista chilena de pediatría

Year:

2008

File:

PDF, 110 KB

2008

41

Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge

Aglony I, Marlene, Lizama C, Macarena, Méndez R, Cecilia, Navarrete S, Carmen, Garay G, Francisco, Repetto L, Gabriela, Pérez L, Rebeca, Carrión A, Flavio, Talesnik G, Eduardo

Journal:

Revista médica de Chile

Year:

2004

File:

PDF, 48 KB

2004

42

VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

CALDERÓN, JUAN FRANCISCO, PUGA, ALONSO R, GUZMÁN, M. LUISA, ASTETE, CARMEN PAZ, ARRIAZA, MARTA, ARACENA, MARIANA, ARAVENA, TERESA, SANZ, PATRICIA, REPETTO, GABRIELA M

Journal:

Biological Research

Year:

2009

Language:

english

File:

PDF, 53 KB

english, 2009

43

Estudio de la proliferación celular en gérmenes dentarios humanos

Pereira-Prado, Vanesa, Vigil-Bastitta, Gabriela, Sicco, Estefania, Bologna-Molina, Ronell, Tapia-Repetto, Gabriel

Journal:

Odontoestomatología

Year:

2018

File:

PDF, 356 KB

2018

44

Hair Cortisol Measurement by an Automated Method

Gonzalez, Diego, Jacobsen, Dario, Ibar, Carolina, Pavan, Carlos, Monti, José, Fernandez Machulsky, Nahuel, Balbi, Ayelen, Fritzler, Analy, Jamardo, Juan, Repetto, Esteban M., Berg, Gabriela, Fabre, Bi

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 993 KB

english, 2019

45

Hair Cortisol Measurement by an Automated Method

Gonzalez, Diego, Jacobsen, Dario, Ibar, Carolina, Pavan, Carlos, Monti, José, Fernandez Machulsky, Nahuel, Balbi, Ayelen, Fritzler, Analy, Jamardo, Juan, Repetto, Esteban M., Berg, Gabriela, Fabre, Bi

Journal:

Scientific Reports

Year:

2019

File:

PDF, 993 KB

2019

46

Evaluación de mutaciones en los genes GJB2 y GJB6 en pacientes con sordera congénita identificados mediante screening neonatal

López V, Gabriela, Puga Y, Alonso, Pittaluga P, Enrica, Bustamante M, Loretho, Godoy B, Cristián, Repetto L, M. Gabriela

Journal:

Revista chilena de pediatría

Year:

2012

File:

PDF, 93 KB

2012

47

Evaluación de mutaciones en los genes GJB2 y GJB6 en pacientes con sordera congénita identificados mediante screening neonatal

López V, Gabriela, Puga Y, Alonso, Pittaluga P, Enrica, Bustamante M, Loretho, Godoy B, Cristián, Repetto L, M. Gabriela

Journal:

Revista chilena de pediatría

Year:

2012

File:

PDF, 93 KB

2012

48

Applied Genomics and Public Health || Rare Diseases: Genomics and Public Health

Repetto, Gabriela M.

Year:

2020

Language:

english

File:

PDF, 173 KB

english, 2020

49

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

Urzua, Abraham, Burattini, Sofia, Pinochet, Constanza, Benavides, Felipe, Repetto, Gabriela M.

Journal:

Journal of Pediatric Genetics

Year:

2019

Language:

english

File:

PDF, 253 KB

english, 2019

50

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

Urzua, Abraham, Burattini, Sofia, Pinochet, Constanza, Benavides, Felipe, Repetto, Gabriela M.

Journal:

Journal of Pediatric Genetics

Year:

2019

File:

PDF, 253 KB

2019