Chacon‐Camacho, Oscar F.: search on Z-Library

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1

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

Blackburn, Patrick R., Chacon-Camacho, Oscar F., Ortiz-González, Xilma R., Reyes, Mariana, Lopez-Uriarte, Graciela A., Zarei, Shabnam, Bhoj, Elizabeth J., Perez-Solorzano, Sofia, Vaubel, Rachael A., M

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 3.36 MB

english, 2018

2

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25

Augusto Rojas-Martinez, Heiko Reutter, Oscar Chacon-Camacho, Rafael B. R. Leon-Cachon, Sergio G. Munoz-Jimenez, Stefanie Nowak, Jessica Becker, Ruth Herberz, Kerstin U. Ludwig, Mario Paredes-Zenteno,

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2010

Language:

english

File:

PDF, 68 KB

english, 2010

3

Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico

Oscar F Chacon-Camacho, Fernando Rodriguez-Dennen, Alejandra Camacho-Molina, Astrid Rasmussen, Elisa Alonso-Vilatela, Juan C Zenteno

Journal:

Clinical & Experimental Ophthalmology

Year:

2010

Language:

english

File:

PDF, 351 KB

english, 2010

4

OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations

Chacon-Camacho, Oscar F., Camarillo-Blancarte, Leyla, Zenteno, Juan C.

Journal:

Ophthalmic Genetics

Year:

2011

Language:

english

File:

PDF, 1.08 MB

english, 2011

5

ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation

Chacón-Camacho, Oscar F., Granillo-Alvarez, Mariella, Ayala-Ramírez, Raul, Zenteno, Juan C.

Journal:

Experimental Eye Research

Year:

2013

Language:

english

File:

PDF, 157 KB

english, 2013

6

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma-coloboma syndrome

Chacón-Camacho, Oscar F., Sobreira, Nara, You, Jing, Piña-Aguilar, Raul E., Villegas-Ruiz, Vanessa, Zenteno, Juan C.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 303 KB

english, 2016

7

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature

Chacon-Camacho, Oscar F., Zenker, Martin, Schanze, Denny, Ledesma-Gil, Jasbeth, Zenteno, Juan C.

Journal:

European Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 721 KB

english, 2017

8

Sclerocornea–Microphthalmia–Aphakia Complex

Quiroz-Casian, Natalia, Chacon-Camacho, Oscar F., Barragan-Arevalo, Tania, Nava-Valdez, Jessica, Lieberman, Esther, Salgado-Medina, Acatzin, Navas, Alejandro, Graue-Hernandez, Enrique O., Zenteno, Jua

Journal:

Year:

2018

Language:

english

File:

PDF, 351 KB

english, 2018

9

PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with 7 novel pathogenic variants

Pérez-Solórzano, Sofía, Chacón-Camacho, Oscar F, Astiazarán, Mirena C, Ledesma-Gil, Gerardo, Zenteno, Juan Carlos

Journal:

Clinical & Experimental Ophthalmology

Year:

2017

Language:

english

File:

PDF, 905 KB

english, 2017

10

Congenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome

Siddiqui, Salina, Zenteno, Juan Carlos, Rice, Aine, Chacón-Camacho, Oscar, Naylor, Steven G., Rivera-de la Parra, David, Spokes, David M., James, Nigel, Toomes, Carmel, Inglehearn, Chris F., Ali, Mani

Journal:

Year:

2013

Language:

english

File:

PDF, 498 KB

english, 2013

11

Klippel–Feil syndrome associated with situs inversus: Description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes

Oscar Chacón-Camacho, Leyla Camarillo-Blancarte, Hugo Pelaez-González, Jaime Mendiola, Juan C. Zenteno

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 619 KB

english, 2012

12

Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate

Elisabeth Mangold, Heiko Reutter, Rafael B. R. León-Cachón, Kerstin U. Ludwig, Stefan Herms, Óscar Chacón-Camacho, Rocío Ortiz-López, Mario Paredes-Zenteno, Abelardo Arizpe-Cantú, Sergio G. Muñoz-Jimé

Journal:

European Journal of Oral Sciences

Year:

2012

Language:

english

File:

PDF, 111 KB

english, 2012

13

Nasopalpebral Lipoma-Coloboma syndrome: Clinical, radiological, and histopathological description of a novel sporadic case

Chacon-Camacho, Oscar F., Lopez-Martinez, Monica S., Vázquez, Johanna, Nava-Castañeda, Angel, Martin-Biasotti, Fernando, Piña-Aguilar, Raul E., Iñiguez-Soto, Marisol, Acosta-García, Job, Zenteno, Juan

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 193 KB

english, 2013

14

Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion

Chacón-Camacho, Oscar, Arce-Gonzalez, Rocio, Granillo-Alvarez, Mariella, Flores-Limas, Sanjuanita, Ramírez, Magdalena, Zenteno, Juan C.

Journal:

Ophthalmic Genetics

Year:

2013

Language:

english

File:

PDF, 417 KB

english, 2013

15

CYP1B1 Cytopathy

Oliva-Biénzobas, Valeria, Navas, Alejandro, C. Astiazarán, Mirena, Chacón-Camacho, Oscar Francisco, A. Bermúdez-Magner, Jose, Takane, Mariana, Graue-Hernández, Enrique, Zenteno, Juan Carlos

Journal:

Year:

2017

Language:

english

File:

PDF, 387 KB

english, 2017

16

Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa

Chacon-Camacho, Oscar F., Jitskii, Serguei, Buentello-Volante, Beatriz, Quevedo-Martinez, Jonathan, Zenteno, Juan C.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.07 MB

english, 2013

17

A rapidly progressive defective spermatogenesis in a Mexican family affected by spino-bulbar muscular atrophy

Piña-Aguilar, Raul Eduardo, Regalado-Hernández, Miguel Ángel, Moreno-García, Jesús Daniel, Buentello-Volante, Beatriz, Chacón-Camacho, Oscar Francisco, Gallegos-Rivas, Mayra Celina, Kazakova, Ekaterin

Journal:

Systems Biology in Reproductive Medicine

Year:

2016

Language:

english

File:

PDF, 1020 KB

english, 2016

18

SOX2 anophthalmia syndrome and dental anomalies

Chacon-Camacho, Oscar Francisco, Fuerte-Flores, Bertha Irene, Ricardez-Marcial, Edgar F., Zenteno, Juan Carlos

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 297 KB

english, 2015

19

Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome

Zuazo, Francisca, Astiazaran, Mirena C., Rodríguez-Cabrera, Lourdes, Garcia-Regil, Patricia, Chacon-Camacho, Oscar, Tovilla-Canales, José L., Zenteno, Juan C.

Journal:

Ophthalmic Plastic & Reconstructive Surgery

Year:

2018

Language:

english

File:

PDF, 349 KB

english, 2018

20

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

Chacon‐Camacho, Oscar F., Lopez‐Moreno, Daniel, Morales‐Sanchez, Martha A., Hofmann, Enriqueta, Pacheco‐Quito, Michelle, Wieland, Ilse, Cortes‐Gonzalez, Vianney, Villanueva‐Mendoza, Cristina, Zenker,

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 1.03 MB

english, 2019

21

TP63 mutation in a patient with acro-dermo-ungual-lacrimal-tooth syndrome: Additional evidence of molecular overlap of the ADULT and EEC syndromes

Chacon-Camacho, Oscar Francisco, Fuerte-Flores, Bertha Irene, Zenteno, Juan Carlos

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 306 KB

english, 2016

22

Integral automation of industrial complexes based on hybrid systems

Edgar Chacón, Ferenc Szigeti, Oscar Camacho

Journal:

ISA Transactions

Year:

1996

Language:

english

File:

PDF, 998 KB

english, 1996

23

Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome

Chacon-Camacho, Oscar F., BarragÃ¡n-ArÃ©valo, Tania, Villarroel, Camilo E., Almanza-Monterrubio, MÃ³nica, Zenteno, Juan Carlos

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 628 KB

2020

24

Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico

Campos-Garcia, Felix-Julian, Chacon-Camacho, Oscar F., Contreras-Capetillo, Silvina, Cruz-Aguilar, Marisa, Medina-Escobedo, Carolina E., Moreno-Graciano, Claudia M., Rodas, Agustín, Herrera-Perez, Luz

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

File:

PDF, 713 KB

2019

25

Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome

Astiazarán, Mirena C., Cervantes-Sodi, María, Rebolledo-Enríquez, Erick, Chacón-Camacho, Oscar, Villegas, Vanessa, Zenteno, Juan Carlos

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2017

Language:

english

File:

PDF, 197 KB

english, 2017

26

Automation of a steam generation plant using hybrid systems

Alex Alvarez, Winston Garcı́a, Oscar Camacho, Edgar Chacón

Journal:

ISA Transactions

Year:

1999

Language:

english

File:

PDF, 369 KB

english, 1999

27

Identification and expression analysis of a novel intragenic EFNB1 mutation causing craniofrontonasal syndrome

Chacon-Camacho, Oscar F., Arce-Gonzalez, Rocio, Villegas-Ruiz, Vanessa, Pelcastre-Luna, Erika, Uría-Gómez, Conrado E., Granillo-Alvarez, Mariella, Zenteno, Juan C.

Journal:

Year:

2014

Language:

english

File:

PDF, 1.11 MB

english, 2014

28

Review and update on the molecular basis of Leber congenital amaurosis

Chacon-Camacho, Oscar Francisco

Journal:

World Journal of Clinical Cases

Year:

2015

Language:

english

File:

PDF, 1.11 MB

english, 2015

29

Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings

Chacon-Camacho, Oscar F., Buentello-Volante, Beatriz, Velázquez-Montoya, Roberto, Ayala-Ramirez, Raul, Zenteno, Juan C.

Journal:

Year:

2014

Language:

english

File:

PDF, 667 KB

english, 2014

30

Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence

Chacon-Camacho, Oscar F., Villegas-Ruiz, Vanessa, Buentello-Volante, Beatriz, Piña-Aguilar, Raul E., Peláez-González, Hugo, Ramírez, Magdalena, González-Rodríguez, Johanna, Zenteno, Juan Carlos

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 789 KB

english, 2015

31

Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease

Piña-Aguilar, Raul E., Vera-Loaiza, Aurea, Chacón-Camacho, Oscar F., Zenteno, Juan Carlos, Nuñez-Orozco, Lilia, Santillán-Hernández, Yuritzi

Journal:

Case Reports in Neurological Medicine

Year:

2014

Language:

english

File:

PDF, 1.55 MB

english, 2014

32

Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus

Chacon-Camacho, Oscar F., Salgado-Medina, Acatzin, Alcaraz-Lares, Nayeli, López-Moreno, Daniel, Barragan-Arevalo, Tania, Nava-Castañeda, Angel, Rodríguez-Uribe, Genaro, Lieberman, Esther, Rodríguez-Ca

Journal:

Year:

2019

Language:

english

File:

PDF, 4.48 MB

english, 2019

33

Expanding the phenotype of gingival fibromatosis–mental retardation–hypertrichosis (Zimmermann–Laband) syndrome

Oscar F. Chacon-Camacho, Johanna Vázquez, Juan C. Zenteno

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 450 KB

english, 2011

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