Publications by authors named "Juan C Zenteno"

69Publications

Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation.

Am J Med Genet A 2020 05 5;182(5):1223-1229. Epub 2020 Feb 5.

Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division, "Dr. Juan I. Menchaca" Civil Hospital of Guadalajara, Guadalajara, Mexico.

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http://dx.doi.org/10.1002/ajmg.a.61506DOI Listing
May 2020

WHOLE SEQUENCING OF THE MITOCHONDRIAL GENOME OF BREAST CANCER TISSUE IN MEXICAN-MESTIZO POSTMENOPAUSAL WOMEN WITH DIFFERENT BODY MASS INDEX.

Rev Invest Clin 2019 ;71(4):237-245

Obesity Research Unit, Faculty of Medicine, Universidad Nacional Autónoma de México, Mexico City, Mexico.

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http://dx.doi.org/10.24875/RIC.19002909DOI Listing
January 2020

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.

Hum Mutat 2019 06 28;40(6):675-693. Epub 2019 Mar 28.

Institute for Research in Ophthalmology, Sion, Switzerland.

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http://dx.doi.org/10.1002/humu.23737DOI Listing
June 2019

Centromere-associated protein E expresses a novel mRNA isoform in acute lymphoblastic leukemia.

Int J Mol Epidemiol Genet 2018 20;9(5):43-54. Epub 2018 Oct 20.

Experimental Oncology Laboratory, Research Department, National Institute of Pediatrics Mexico City, Mexico.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261922PMC
October 2018

Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes.

Am J Med Genet A 2018 12 18;176(12):2637-2645. Epub 2018 Nov 18.

Research Unit, Genetics Department, Institute of Ophthalmology, "Conde de Valenciana", Mexico City, Mexico.

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http://doi.wiley.com/10.1002/ajmg.a.40524
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http://dx.doi.org/10.1002/ajmg.a.40524DOI Listing
December 2018

Retinal phenotypic characterization of patients with retinopathydue to the homozygous p.Ala1773Val mutation.

Mol Vis 2018 1;24:105-114. Epub 2018 Feb 1.

Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana," Mexico City, Mexico.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800431PMC
November 2018

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

Ophthalmic Plast Reconstr Surg 2018 Mar/Apr;34(2):e61-e63

Department of Orbit and Oculoplastics, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico.

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http://dx.doi.org/10.1097/IOP.0000000000001036DOI Listing
July 2018

The clinical implications of molecular monitoring and analyses of inherited retinal diseases.

Expert Rev Mol Diagn 2017 11 5;17(11):1009-1021. Epub 2017 Oct 5.

a Genetics Department-research Unit , Institute of Ophthalmology 'Conde de Valenciana' , Mexico City , Mexico.

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http://dx.doi.org/10.1080/14737159.2017.1384314DOI Listing
November 2017

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Authors:
Tin Aung Mineo Ozaki Mei Chin Lee Ursula Schlötzer-Schrehardt Gudmar Thorleifsson Takanori Mizoguchi Robert P Igo Aravind Haripriya Susan E Williams Yury S Astakhov Andrew C Orr Kathryn P Burdon Satoko Nakano Kazuhiko Mori Khaled Abu-Amero Michael Hauser Zheng Li Gopalakrishnan Prakadeeswari Jessica N Cooke Bailey Alina Popa Cherecheanu Jae H Kang Sarah Nelson Ken Hayashi Shin-Ichi Manabe Shigeyasu Kazama Tomasz Zarnowski Kenji Inoue Murat Irkec Miguel Coca-Prados Kazuhisa Sugiyama Irma Järvelä Patricio Schlottmann S Fabian Lerner Hasnaa Lamari Yildirim Nilgün Mukharram Bikbov Ki Ho Park Soon Cheol Cha Kenji Yamashiro Juan C Zenteno Jost B Jonas Rajesh S Kumar Shamira A Perera Anita S Y Chan Nino Kobakhidze Ronnie George Lingam Vijaya Tan Do Deepak P Edward Lourdes de Juan Marcos Mohammad Pakravan Sasan Moghimi Ryuichi Ideta Daniella Bach-Holm Per Kappelgaard Barbara Wirostko Samuel Thomas Daniel Gaston Karen Bedard Wenda L Greer Zhenglin Yang Xueyi Chen Lulin Huang Jinghong Sang Hongyan Jia Liyun Jia Chunyan Qiao Hui Zhang Xuyang Liu Bowen Zhao Ya-Xing Wang Liang Xu Stéphanie Leruez Pascal Reynier George Chichua Sergo Tabagari Steffen Uebe Matthias Zenkel Daniel Berner Georg Mossböck Nicole Weisschuh Ursula Hoja Ulrich-Christoph Welge-Luessen Christian Mardin Panayiota Founti Anthi Chatzikyriakidou Theofanis Pappas Eleftherios Anastasopoulos Alexandros Lambropoulos Arkasubhra Ghosh Rohit Shetty Natalia Porporato Vijayan Saravanan Rengaraj Venkatesh Chandrashekaran Shivkumar Narendran Kalpana Sripriya Sarangapani Mozhgan R Kanavi Afsaneh Naderi Beni Shahin Yazdani Alireza Lashay Homa Naderifar Nassim Khatibi Antonio Fea Carlo Lavia Laura Dallorto Teresa Rolle Paolo Frezzotti Daniela Paoli Erika Salvi Paolo Manunta Yosai Mori Kazunori Miyata Tomomi Higashide Etsuo Chihara Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Makoto Aihara Masaru Inatani Masahiro Miyake Norimoto Gotoh Fumihiko Matsuda Nagahisa Yoshimura Yoko Ikeda Morio Ueno Chie Sotozono Jin Wook Jeoung Min Sagong Kyu Hyung Park Jeeyun Ahn Marisa Cruz-Aguilar Sidi M Ezzouhairi Abderrahman Rafei Yaan Fun Chong Xiao Yu Ng Shuang Ru Goh Yueming Chen Victor H K Yong Muhammad Imran Khan Olusola O Olawoye Adeyinka O Ashaye Idakwo Ugbede Adeola Onakoya Nkiru Kizor-Akaraiwe Chaiwat Teekhasaenee Yanin Suwan Wasu Supakontanasan Suhanya Okeke Nkechi J Uche Ifeoma Asimadu Humaira Ayub Farah Akhtar Ewa Kosior-Jarecka Urszula Lukasik Ignacio Lischinsky Vania Castro Rodolfo Perez Grossmann Gordana Sunaric Megevand Sylvain Roy Edward Dervan Eoin Silke Aparna Rao Priti Sahay Pablo Fornero Osvaldo Cuello Delia Sivori Tamara Zompa Richard A Mills Emmanuelle Souzeau Paul Mitchell Jie Jin Wang Alex W Hewitt Michael Coote Jonathan G Crowston Sergei Y Astakhov Eugeny L Akopov Anton Emelyanov Vera Vysochinskaya Gyulli Kazakbaeva Rinat Fayzrakhmanov Saleh A Al-Obeidan Ohoud Owaidhah Leyla Ali Aljasim Balram Chowbay Jia Nee Foo Raphael Q Soh Kar Seng Sim Zhicheng Xie Augustine W O Cheong Shi Qi Mok Hui Meng Soo Xiao Yin Chen Su Qin Peh Khai Koon Heng Rahat Husain Su-Ling Ho Axel M Hillmer Ching-Yu Cheng Francisco A Escudero-Domínguez Rogelio González-Sarmiento Frederico Martinon-Torres Antonio Salas Kessara Pathanapitoon Linda Hansapinyo Boonsong Wanichwecharugruang Naris Kitnarong Anavaj Sakuntabhai Hip X Nguyn Giang T T Nguyn Trình V Nguyn Werner Zenz Alexander Binder Daniela S Klobassa Martin L Hibberd Sonia Davila Stefan Herms Markus M Nöthen Susanne Moebus Robyn M Rautenbach Ari Ziskind Trevor R Carmichael Michele Ramsay Lydia Álvarez Montserrat García Héctor González-Iglesias Pedro P Rodríguez-Calvo Luis Fernández-Vega Cueto Çilingir Oguz Nevbahar Tamcelik Eray Atalay Bilge Batu Dilek Aktas Burcu Kasım M Roy Wilson Anne L Coleman Yutao Liu Pratap Challa Leon Herndon Rachel W Kuchtey John Kuchtey Karen Curtin Craig J Chaya Alan Crandall Linda M Zangwill Tien Yin Wong Masakazu Nakano Shigeru Kinoshita Anneke I den Hollander Eija Vesti John H Fingert Richard K Lee Arthur J Sit Bradford J Shingleton Ningli Wang Daniele Cusi Raheel Qamar Peter Kraft Margaret A Pericak-Vance Soumya Raychaudhuri Steffen Heegaard Tero Kivelä André Reis Friedrich E Kruse Robert N Weinreb Louis R Pasquale Jonathan L Haines Unnur Thorsteinsdottir Fridbert Jonasson R Rand Allingham Dan Milea Robert Ritch Toshiaki Kubota Kei Tashiro Eranga N Vithana Shazia Micheal Fotis Topouzis Jamie E Craig Michael Dubina Periasamy Sundaresan Kari Stefansson Janey L Wiggs Francesca Pasutto Chiea Chuen Khor

Nat Genet 2017 07 29;49(7):993-1004. Epub 2017 May 29.

Singapore Eye Research Institute, Singapore.

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http://dx.doi.org/10.1038/ng.3875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685441PMC
July 2017

Genome-wide mRNA analysis reveals a TUBD1 isoform profile as a potential biomarker for diabetic retinopathy development.

Exp Eye Res 2017 02 27;155:99-106. Epub 2017 Jan 27.

Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico; Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2017.01.004DOI Listing
February 2017

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

Eur J Med Genet 2017 Mar 19;60(3):190-194. Epub 2017 Jan 19.

Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.01.005DOI Listing
March 2017

The G mutation in the 5'untranslated region of the norA gene increases efflux activity in Staphylococcus epidermidis isolates.

Microb Pathog 2017 Feb 23;103:139-148. Epub 2016 Dec 23.

Departamento de Microbiología, Escuela Nacional de Ciencias Biológicas-Instituto Politécnico Nacional, Ciudad de México, Mexico. Electronic address:

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http://dx.doi.org/10.1016/j.micpath.2016.12.021DOI Listing
February 2017

Characterization of expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).

J Investig Med 2017 03 15;65(3):705-708. Epub 2016 Dec 15.

Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.

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http://jim.bmj.com/lookup/doi/10.1136/jim-2016-000184
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http://dx.doi.org/10.1136/jim-2016-000184DOI Listing
March 2017

Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation.

Cornea 2016 Jul;35(7):987-90

*Department of Cornea and Refractive Surgery, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico; †Florida Lions Ocular Pathology Laboratory, Miami, FL; ‡Genetics Department-Research Unit, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico; §Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico; and ¶Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL.

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http://dx.doi.org/10.1097/ICO.0000000000000863DOI Listing
July 2016

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

Am J Med Genet A 2016 07 3;170(7):1934-7. Epub 2016 May 3.

Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.

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http://dx.doi.org/10.1002/ajmg.a.37683DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618706PMC
July 2016

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

Authors:
Chiea Chuen Khor Tan Do Hongyan Jia Masakazu Nakano Ronnie George Khaled Abu-Amero Roopam Duvesh Li Jia Chen Zheng Li Monisha E Nongpiur Shamira A Perera Chunyan Qiao Hon-Tym Wong Hiroshi Sakai Mônica Barbosa de Melo Mei-Chin Lee Anita S Chan Yaakub Azhany Thi Lam Huong Dao Yoko Ikeda Rodolfo A Perez-Grossmann Tomasz Zarnowski Alexander C Day Jost B Jonas Pancy O S Tam Tuan Anh Tran Humaira Ayub Farah Akhtar Shazia Micheal Paul T K Chew Leyla A Aljasim Tanuj Dada Tam Thi Luu Mona S Awadalla Naris Kitnarong Boonsong Wanichwecharungruang Yee Yee Aung Jelinar Mohamed-Noor Saravanan Vijayan Sripriya Sarangapani Rahat Husain Aliza Jap Mani Baskaran David Goh Daniel H Su Huaizhou Wang Vernon K Yong Leonard W Yip Tuyet Bach Trinh Manchima Makornwattana Thanh Thu Nguyen Edgar U Leuenberger Ki-Ho Park Widya Artini Wiyogo Rajesh S Kumar Celso Tello Yasuo Kurimoto Suman S Thapa Kessara Pathanapitoon John F Salmon Yong Ho Sohn Antonio Fea Mineo Ozaki Jimmy S M Lai Visanee Tantisevi Chaw Chaw Khaing Takanori Mizoguchi Satoko Nakano Chan-Yun Kim Guangxian Tang Sujie Fan Renyi Wu Hailin Meng Thi Thuy Giang Nguyen Tien Dat Tran Morio Ueno Jose Maria Martinez Norlina Ramli Yin Mon Aung Rigo Daniel Reyes Stephen A Vernon Seng Kheong Fang Zhicheng Xie Xiao Yin Chen Jia Nee Foo Kar Seng Sim Tina T Wong Desmond T Quek Rengaraj Venkatesh Srinivasan Kavitha Subbiah R Krishnadas Nagaswamy Soumittra Balekudaru Shantha Boon-Ang Lim Jeanne Ogle José P C de Vasconcellos Vital P Costa Ricardo Y Abe Bruno B de Souza Chelvin C Sng Maria C Aquino Ewa Kosior-Jarecka Guillermo Barreto Fong Vania Castro Tamanaja Ricardo Fujita Yuzhen Jiang Naushin Waseem Sancy Low Huan Nguyen Pham Sami Al-Shahwan E Randy Craven Muhammad Imran Khan Rrima Dada Kuldeep Mohanty Muneeb A Faiq Alex W Hewitt Kathryn P Burdon Eng Hui Gan Anuwat Prutthipongsit Thipnapa Patthanathamrongkasem Mary Ann T Catacutan Irene R Felarca Chona S Liao Emma Rusmayani Vira Wardhana Istiantoro Giulia Consolandi Giulia Pignata Carlo Lavia Prin Rojanapongpun Lerprat Mangkornkanokpong Sunee Chansangpetch Jonathan C H Chan Bonnie N K Choy Jennifer W H Shum Hlaing May Than Khin Thida Oo Aye Thi Han Victor H Yong Xiao-Yu Ng Shuang Ru Goh Yaan Fun Chong Martin L Hibberd Mark Seielstad Eileen Png Sarah J Dunstan Nguyen Van Vinh Chau Jinxin Bei Yi Xin Zeng Abhilasha Karkey Buddha Basnyat Francesca Pasutto Daniela Paoli Paolo Frezzotti Jie Jin Wang Paul Mitchell John H Fingert R Rand Allingham Michael A Hauser Soon Thye Lim Soo Hong Chew Richard P Ebstein Anavaj Sakuntabhai Kyu Hyung Park Jeeyun Ahn Greet Boland Harm Snippe Richard Stead Raquel Quino Su Nyunt Zaw Urszula Lukasik Rohit Shetty Mimiwati Zahari Hyoung Won Bae Nay Lin Oo Toshiaki Kubota Anita Manassakorn Wing Lau Ho Laura Dallorto Young Hoon Hwang Christine A Kiire Masako Kuroda Zeiras Eka Djamal Jovell Ian M Peregrino Arkasubhra Ghosh Jin Wook Jeoung Tung S Hoan Nuttamon Srisamran Thayanithi Sandragasu Saw Htoo Set Vi Huyen Doan Shomi S Bhattacharya Ching-Lin Ho Donald T Tan Ramanjit Sihota Seng-Chee Loon Kazuhiko Mori Shigeru Kinoshita Anneke I den Hollander Raheel Qamar Ya-Xing Wang Yik Y Teo E-Shyong Tai Curt Hartleben-Matkin David Lozano-Giral Seang Mei Saw Ching-Yu Cheng Juan C Zenteno Chi Pui Pang Huong T T Bui Owen Hee Jamie E Craig Deepak P Edward Michiko Yonahara Jamil Miguel Neto Maria L Guevara-Fujita Liang Xu Robert Ritch Ahmad Tajudin Liza-Sharmini Tien Y Wong Saleh Al-Obeidan Nhu Hon Do Periasamy Sundaresan Clement C Tham Paul J Foster Lingam Vijaya Kei Tashiro Eranga N Vithana Ningli Wang Tin Aung

Nat Genet 2016 May 4;48(5):556-62. Epub 2016 Apr 4.

Singapore Eye Research Institute, Singapore National Eye Centre and Eye ACP, Duke-National University of Singapore, Singapore.

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http://www.nature.com/articles/ng.3540
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http://dx.doi.org/10.1038/ng.3540DOI Listing
May 2016

Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6.

Clin Dysmorphol 2016 Jan;25(1):12-5

aGenetics Division, Western Biomedical Research Center, CMNO-IMSS, Guadalajara, Jalisco bTeleton Children's Rehabilitation Center, Chihuahua, Chihuahua cResearch Unit, Institute of Ophthalmology, Conde de Valenciana Foundation, Mexico City, Mexico.

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http://dx.doi.org/10.1097/MCD.0000000000000101DOI Listing
January 2016

Characterization and mRNA expression analysis of a novel ARG1 splicing mutation causing hyperargininemia.

Clin Biochem 2015 Dec 10;48(18):1273-6. Epub 2015 Jul 10.

Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico; Biochemistry Department, Faculty of Medicine, UNAM, Mexico City, Mexico. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2015.07.015DOI Listing
December 2015

Erratum to: Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.

Graefes Arch Clin Exp Ophthalmol 2015 Aug;253(8):1417

Genetics Department and Research Unit, Institute of Ophthalmology "Conde de Valenciana" and Biochemistry Department, Faculty of Medicine, National Autonomous University of Mexico (UNAM), Chimalpopoca 14, Col. Obrera, Mexico City, CP, 06800, Mexico,

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http://link.springer.com/10.1007/s00417-015-3089-9
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http://dx.doi.org/10.1007/s00417-015-3089-9DOI Listing
August 2015

Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Authors:
Tin Aung Mineo Ozaki Takanori Mizoguchi R Rand Allingham Zheng Li Aravind Haripriya Satoko Nakano Steffen Uebe Jeffrey M Harder Anita S Y Chan Mei Chin Lee Kathryn P Burdon Yury S Astakhov Khaled K Abu-Amero Juan C Zenteno Yildirim Nilgün Tomasz Zarnowski Mohammad Pakravan Leen Abu Safieh Liyun Jia Ya Xing Wang Susan Williams Daniela Paoli Patricio G Schlottmann Lulin Huang Kar Seng Sim Jia Nee Foo Masakazu Nakano Yoko Ikeda Rajesh S Kumar Morio Ueno Shin-Ichi Manabe Ken Hayashi Shigeyasu Kazama Ryuichi Ideta Yosai Mori Kazunori Miyata Kazuhisa Sugiyama Tomomi Higashide Etsuo Chihara Kenji Inoue Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Makoto Aihara Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Fumihiko Matsuda Kenji Yamashiro Norimoto Gotoh Masahiro Miyake Sergei Y Astakhov Essam A Osman Saleh A Al-Obeidan Ohoud Owaidhah Leyla Al-Jasim Sami Al Shahwan Rhys A Fogarty Paul Leo Yaz Yetkin Çilingir Oğuz Mozhgan Rezaei Kanavi Afsaneh Naderi Beni Shahin Yazdani Evgeny L Akopov Kai-Yee Toh Gareth R Howell Andrew C Orr Yufen Goh Wee Yang Meah Su Qin Peh Ewa Kosior-Jarecka Urszula Lukasik Mandy Krumbiegel Eranga N Vithana Tien Yin Wong Yutao Liu Allison E Ashley Koch Pratap Challa Robyn M Rautenbach David A Mackey Alex W Hewitt Paul Mitchell Jie Jin Wang Ari Ziskind Trevor Carmichael Rangappa Ramakrishnan Kalpana Narendran Rangaraj Venkatesh Saravanan Vijayan Peiquan Zhao Xueyi Chen Dalia Guadarrama-Vallejo Ching Yu Cheng Shamira A Perera Rahat Husain Su-Ling Ho Ulrich-Christoph Welge-Luessen Christian Mardin Ursula Schloetzer-Schrehardt Axel M Hillmer Stefan Herms Susanne Moebus Markus M Nöthen Nicole Weisschuh Rohit Shetty Arkasubhra Ghosh Yik Ying Teo Matthew A Brown Ignacio Lischinsky Jonathan G Crowston Michae Coote Bowen Zhao Jinghong Sang Nihong Zhang Qisheng You Vera Vysochinskaya Panayiota Founti Anthoula Chatzikyriakidou Alexandros Lambropoulos Eleftherios Anastasopoulos Anne L Coleman M Roy Wilson Douglas J Rhee Jae Hee Kang Inna May-Bolchakova Steffen Heegaard Kazuhiko Mori Wallace L M Alward Jost B Jonas Liang Xu Jeffrey M Liebmann Balram Chowbay Elke Schaeffeler Matthias Schwab Fabian Lerner Ningli Wang Zhenglin Yang Paolo Frezzotti Shigeru Kinoshita John H Fingert Masaru Inatani Kei Tashiro André Reis Deepak P Edward Louis R Pasquale Toshiaki Kubota Janey L Wiggs Francesca Pasutto Fotis Topouzis Michael Dubina Jamie E Craig Nagahisa Yoshimura Periasamy Sundaresan Simon W M John Robert Ritch Michael A Hauser Chiea-Chuen Khor

Nat Genet 2015 Jun;47(6):689

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http://dx.doi.org/10.1038/ng0615-689cDOI Listing
June 2015

Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients.

Gene 2015 Jul 17;566(1):63-7. Epub 2015 Apr 17.

Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico; Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.04.040DOI Listing
July 2015

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

Authors:
Tin Aung Mineo Ozaki Takanori Mizoguchi R Rand Allingham Zheng Li Aravind Haripriya Satoko Nakano Steffen Uebe Jeffrey M Harder Anita S Y Chan Mei Chin Lee Kathryn P Burdon Yury S Astakhov Khaled K Abu-Amero Juan C Zenteno Yildirim Nilgün Tomasz Zarnowski Mohammad Pakravan Leen Abu Safieh Liyun Jia Ya Xing Wang Susan Williams Daniela Paoli Patricio G Schlottmann Lulin Huang Kar Seng Sim Jia Nee Foo Masakazu Nakano Yoko Ikeda Rajesh S Kumar Morio Ueno Shin-ichi Manabe Ken Hayashi Shigeyasu Kazama Ryuichi Ideta Yosai Mori Kazunori Miyata Kazuhisa Sugiyama Tomomi Higashide Etsuo Chihara Kenji Inoue Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Makoto Aihara Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Fumihiko Matsuda Kenji Yamashiro Norimoto Gotoh Masahiro Miyake Sergei Y Astakhov Essam A Osman Saleh A Al-Obeidan Ohoud Owaidhah Leyla Al-Jasim Sami Al Shahwan Rhys A Fogarty Paul Leo Yaz Yetkin Çilingir Oğuz Mozhgan Rezaei Kanavi Afsaneh Nederi Beni Shahin Yazdani Evgeny L Akopov Kai-Yee Toh Gareth R Howell Andrew C Orr Yufen Goh Wee Yang Meah Su Qin Peh Ewa Kosior-Jarecka Urszula Lukasik Mandy Krumbiegel Eranga N Vithana Tien Yin Wong Yutao Liu Allison E Ashley Koch Pratap Challa Robyn M Rautenbach David A Mackey Alex W Hewitt Paul Mitchell Jie Jin Wang Ari Ziskind Trevor Carmichael Rangappa Ramakrishnan Kalpana Narendran Rangaraj Venkatesh Saravanan Vijayan Peiquan Zhao Xueyi Chen Dalia Guadarrama-Vallejo Ching Yu Cheng Shamira A Perera Rahat Husain Su-Ling Ho Ulrich-Christoph Welge-Luessen Christian Mardin Ursula Schloetzer-Schrehardt Axel M Hillmer Stefan Herms Susanne Moebus Markus M Nöthen Nicole Weisschuh Rohit Shetty Arkasubhra Ghosh Yik Ying Teo Matthew A Brown Ignacio Lischinsky Jonathan G Crowston Michael Coote Bowen Zhao Jinghong Sang Nihong Zhang Qisheng You Vera Vysochinskaya Panayiota Founti Anthoula Chatzikyriakidou Alexandros Lambropoulos Eleftherios Anastasopoulos Anne L Coleman M Roy Wilson Douglas J Rhee Jae Hee Kang Inna May-Bolchakova Steffen Heegaard Kazuhiko Mori Wallace L M Alward Jost B Jonas Liang Xu Jeffrey M Liebmann Balram Chowbay Elke Schaeffeler Matthias Schwab Fabian Lerner Ningli Wang Zhenglin Yang Paolo Frezzotti Shigeru Kinoshita John H Fingert Masaru Inatani Kei Tashiro André Reis Deepak P Edward Louis R Pasquale Toshiaki Kubota Janey L Wiggs Francesca Pasutto Fotis Topouzis Michael Dubina Jamie E Craig Nagahisa Yoshimura Periasamy Sundaresan Simon W M John Robert Ritch Michael A Hauser Chiea-Chuen Khor

Nat Genet 2015 Apr 23;47(4):387-92. Epub 2015 Feb 23.

1] Singapore Eye Research Institute, Singapore. [2] Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. [3] Division of Human Genetics, Genome Institute of Singapore, Singapore.

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http://dx.doi.org/10.1038/ng.3226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4605818PMC
April 2015

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

Meta Gene 2014 Dec 28;2:25-31. Epub 2013 Nov 28.

Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico ; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico.

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http://dx.doi.org/10.1016/j.mgene.2013.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287793PMC
December 2014

Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.

Int J Clin Exp Med 2014 15;7(11):3915-23. Epub 2014 Nov 15.

Department of Biochemistry, Faculty of Medicine, UNAM and Department of Genetics, Institute of Ophthalmology "Conde de Valenciana" Mexico City, Mexico.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4276157PMC
December 2014

Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.

Graefes Arch Clin Exp Ophthalmol 2014 Nov 17;252(11):1789-94. Epub 2014 Sep 17.

Genetics Department and Research Unit, Institute of Ophthalmology "Conde de Valenciana" and Biochemistry Department, Faculty of Medicine, National Autonomous University of Mexico (UNAM), Chimalpopoca 14, Col. Obrera, Mexico City, CP, 06800, Mexico,

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http://dx.doi.org/10.1007/s00417-014-2800-6DOI Listing
November 2014

TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.

Graefes Arch Clin Exp Ophthalmol 2014 Aug 7;252(8):1267-72. Epub 2014 May 7.

Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.

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http://dx.doi.org/10.1007/s00417-014-2648-9DOI Listing
August 2014

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

Gene 2014 Jan 7;534(2):218-21. Epub 2013 Nov 7.

Research Unit-Genetics, Institute of Ophthalmology, "Conde de Valenciana", Mexico City, Mexico; Department of Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.10.057DOI Listing
January 2014

An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village.

Mol Vis 2013 27;19:1866-70. Epub 2013 Aug 27.

Research Unit-Genetics, Institute of Ophthalmology, "Conde de Valenciana," Mexico City, Mexico ; Department of Public Health, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762562PMC
March 2014

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

Gene 2013 Oct 27;528(2):178-82. Epub 2013 Jul 27.

Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.

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http://dx.doi.org/10.1016/j.gene.2013.07.021DOI Listing
October 2013

Staphylococcus epidermidis with the icaA⁻/icaD⁻/IS256⁻ genotype and protein or protein/extracellular-DNA biofilm is frequent in ocular infections.

J Med Microbiol 2013 Oct 16;62(Pt 10):1579-1587. Epub 2013 Jul 16.

Department of Microbiology, Escuela Nacional de Ciencias Biológicas-Instituto Politécnico Nacional, Carpio y Plan de Ayala S/N. Col. Santo Tomas. Deleg. Miguel Hidalgo. CP 11340 Mexico City, Mexico.

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http://dx.doi.org/10.1099/jmm.0.055210-0DOI Listing
October 2013

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.

Exp Eye Res 2013 Apr 16;109:77-82. Epub 2013 Feb 16.

Department of Genetics-Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico.

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http://dx.doi.org/10.1016/j.exer.2013.02.006DOI Listing
April 2013

Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion.

Ophthalmic Genet 2013 Dec 1;34(4):243-8. Epub 2013 Feb 1.

Genetics Department-Research Unit, Institute of Ophthalmology "Conde de Valenciana" , Mexico City , Mexico.

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http://dx.doi.org/10.3109/13816810.2012.755631DOI Listing
December 2013

Association study of multiple gene polymorphisms with the risk of adult-onset primary open-angle glaucoma in a Mexican population.

Exp Eye Res 2013 Feb 30;107:59-64. Epub 2012 Nov 30.

Research Unit-Genetics, Institute of Ophthalmology, "Conde de Valenciana," Mexico City, Mexico.

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http://dx.doi.org/10.1016/j.exer.2012.11.013DOI Listing
February 2013

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

Eur J Med Genet 2012 Jun 28;55(6-7):414-7. Epub 2012 Mar 28.

Department of Genetics, Institute of Ophthalmology, Conde de Valenciana, Chimalpopoca 14, Col. Obrera, Mexico City, Mexico.

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http://linkinghub.elsevier.com/retrieve/pii/S176972121200104
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http://dx.doi.org/10.1016/j.ejmg.2012.03.007DOI Listing
June 2012

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

Am J Med Genet A 2011 Jul 27;155A(7):1716-20. Epub 2011 May 27.

Department of Genetics, Institute of Ophthalmology "Conde de Valenciana", Mexico City, Mexico.

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http://dx.doi.org/10.1002/ajmg.a.34030DOI Listing
July 2011

OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.

Ophthalmic Genet 2011 Mar 15;32(1):24-30. Epub 2010 Nov 15.

Department of Genetics and Research Unit, Institute of Ophthalmology "Conde de Valenciana," Mexico City.

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http://dx.doi.org/10.3109/13816810.2010.524906DOI Listing
March 2011

Novel and recurrent NDP gene mutations in familial cases of Norrie disease and X-linked exudative vitreoretinopathy.

Clin Exp Ophthalmol 2010 May 22;38(4):367-74. Epub 2010 Feb 22.

Research Unit and Department of Genetics, Institute of Ophthalmology Conde de Valenciana, Chimalpopoca 14, Col. Obrera, Mexico City 06800, Mexico.

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http://dx.doi.org/10.1111/j.1442-9071.2010.02245.xDOI Listing
May 2010

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

Clin Exp Ophthalmol 2010 Apr;38(3):277-83

Department of Genetics, Institute of Ophthalmology 'Conde de Valenciana', Mexico City, Mexico.

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http://dx.doi.org/10.1111/j.1442-9071.2010.02241.xDOI Listing
April 2010

CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia.

Am J Med Genet A 2009 Oct;149A(10):2134-40

Research Unit, Institute of Ophthalmology Conde De Valenciana, Mexico City, Mexico.

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http://dx.doi.org/10.1002/ajmg.a.32727DOI Listing
October 2009

A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.

Am J Ophthalmol 2008 Aug 13;146(2):323-328. Epub 2008 Jun 13.

Department of Ophthalmology, Autonomous University of Barcelona, Hospital de Sant Pau y de la Santa Creu, Barcelona, Spain.

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https://linkinghub.elsevier.com/retrieve/pii/S00029394080032
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http://dx.doi.org/10.1016/j.ajo.2008.04.029DOI Listing
August 2008

Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy.

Curr Eye Res 2008 Apr;33(4):313-8

Department of Genetics and Research Unit, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico.

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http://dx.doi.org/10.1080/02713680801983217DOI Listing
April 2008

Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome.

Am J Med Genet A 2005 May;135(1):21-7

Departamento de Inmunobiología Molecular, CIB, Facultad de Medicina Universidad Autónoma de Coahuila, Torreón, Coahuila, México.

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http://dx.doi.org/10.1002/ajmg.a.30696DOI Listing
May 2005

A rare case of gonadal agenesis with paramesonephric derivatives in a patient with a normal female karyotype.

Fertil Steril 2005 Jan;83(1):201-4

Department of Genetics, National Institute of Medical Sciences and Nutrition Salvador Zubirán, Mexico City, Mexico.

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http://dx.doi.org/10.1016/j.fertnstert.2004.07.954DOI Listing
January 2005

Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases.

Hum Genet 2002 Sep 1;111(3):278-83. Epub 2002 Aug 1.

Hospital General de México-Facultad de Medicina, UNAM, Dr. Balmis 148 Col. Doctores CP 06726, Mexico City, Mexico.

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http://dx.doi.org/10.1007/s00439-002-0772-9DOI Listing
September 2002