J
José Elías García-Ortiz
Researcher at Mexican Social Security Institute
Publications - 50
Citations - 962
José Elías García-Ortiz is an academic researcher from Mexican Social Security Institute. The author has contributed to research in topics: Population & Gene. The author has an hindex of 16, co-authored 47 publications receiving 798 citations. Previous affiliations of José Elías García-Ortiz include Autonomous University of Coahuila & University of Guadalajara.
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Journal ArticleDOI
Foxl2 functions in sex determination and histogenesis throughout mouse ovary development
José Elías García-Ortiz,Emanuele Pelosi,Shakib Omari,Timur Nedorezov,Yulan Piao,Jesse Karmazin,Manuela Uda,Antonio Cao,Steve W. Cole,Antonino Forabosco,David Schlessinger,Chris Ottolenghi +11 more
TL;DR: In the absence of Foxl2, expression changes affecting a large fraction of pathways were opposite those observed in Wnt4-null ovaries, reinforcing the notion that these genes have complementary actions in ovary development.
Journal ArticleDOI
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D. Shaw,Natalie D. Shaw,Harrison Brand,Harrison Brand,Zachary A. Kupchinsky,Hemant Bengani,Lacey Plummer,Takako I. Jones,Serkan Erdin,Serkan Erdin,Kathleen A. Williamson,Joe Rainger,Alexei Stortchevoi,Kaitlin E. Samocha,Kaitlin E. Samocha,Benjamin Currall,Donncha S. Dunican,Ryan L. Collins,Jason R. Willer,Angela Lek,Monkol Lek,Monkol Lek,Malik Nassan,Shahrin Pereira,Tammy Kammin,Diane Lucente,Alexandra Silva,Catarina M. Seabra,Catarina M. Seabra,Colby Chiang,Yu An,Morad Ansari,Jacqueline K. Rainger,Shelagh Joss,Jill Clayton Smith,Margaret F. Lippincott,Sylvia S. Singh,Nirav J. Patel,Jenny Jing,Jennifer R. Law,Nalton F. Ferraro,Alain Verloes,Anita Rauch,Katharina Steindl,Markus Zweier,Ianina Scheer,Daisuke Sato,Nobuhiko Okamoto,Christina Jacobsen,Jeanie B. Tryggestad,Steven D. Chernausek,Lisa A. Schimmenti,Benjamin Brasseur,Claudia Cesaretti,José Elías García-Ortiz,Tatiana Pineda Buitrago,Orlando Perez Silva,Jodi D. Hoffman,Wolfgang Mühlbauer,Klaus W. Ruprecht,Bart Loeys,Masato Shino,Angela M. Kaindl,Chie Hee Cho,Cynthia C. Morton,Cynthia C. Morton,Richard R. Meehan,Veronica van Heyningen,Eric C. Liao,Ravikumar Balasubramanian,Janet E. Hall,Stephanie B. Seminara,Stephanie B. Seminara,Daniel G. MacArthur,Steven A. Moore,Steven A. Moore,Koh-ichiro Yoshiura,James F. Gusella,Joseph A. Marsh,John Graham,Angela E. Lin,Nicholas Katsanis,Peter L. Jones,William F. Crowley,Erica E. Davis,David R. FitzPatrick,Michael E. Talkowski,Michael E. Talkowski,Michael E. Talkowski +88 more
TL;DR: In this article, the authors found that SMCHD1 mutations cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) via a trans-acting loss-of-function epigenetic mechanism.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome (vol 49, pg 238, 2017)
Natalie D. Shaw,Harrison Brand,Zachary A. Kupchinsky,Hemant Bengani,Lacey Plummer,Takako I. Jones,Serkan Erdin,Kathleen A. Williamson,Joe Rainger,Alexei Stortchevoi,Kaitlin E. Samocha,Benjamin Currall,Donncha S. Dunican,Ryan L. Collins,Willer,Angela Lek,Monkol Lek,Malik Nassan,Shahrin Pereira,Tammy Kammin,Diane Lucente,A Silva,Catarina M. Seabra,Colby Chiang,Yu An,Morad Ansari,Jacqueline K. Rainger,Shelagh Joss,JC Smith,Margaret F. Lippincott,Shilpi Singh,Nirav J. Patel,Jenny Jing,Law,Nalton F. Ferraro,Alain Verloes,Anita Rauch,Katharina Steindl,Markus Zweier,Ianina Scheer,Daisuke Sato,Nobuhiko Okamoto,Christina Jacobsen,Jeanie B. Tryggestad,Steven D. Chernausek,Lisa A. Schimmenti,Benjamin Brasseur,Claudia Cesaretti,José Elías García-Ortiz,Tatiana Pineda Buitrago,Orlando Perez Silva,Jodi D. Hoffman,Wolfgang Mühlbauer,KW Ruprecht,Bart Loeys,Masato Shino,Angela M. Kaindl,C-H Cho,Cynthia C. Morton,Richard R. Meehan,van Heyningen,Eric C. Liao,Ravikumar Balasubramanian,Janet E. Hall,Stephanie B. Seminara,Daniel G. MacArthur,Steven A. Moore,K-I Yoshiura,James F. Gusella,Joseph A. Marsh,John M. Graham,Ae Lin,Nicholas Katsanis,Peter L. Jones,William F. Crowley,Erica E. Davis,FitzPatrick,Michael E. Talkowski +77 more
TL;DR: Mutations in SMCHD1 contribute to distinct phenotypic spectra, from craniofacial malformation and reproductive disorders to muscular dystrophy, which are speculated to be consistent with oligogenic mechanisms resulting in pleiotropic outcomes.
Journal ArticleDOI
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia–anophthalmia–coloboma (MAC) spectrum cases
J Gonzalez-Rodriguez,E. L. Pelcastre,J L Tovilla-Canales,José Elías García-Ortiz,M. Amato-Almanza,C Villanueva-Mendoza,Z Espinosa-Mattar,Juan Carlos Zenteno +7 more
TL;DR: A comprehensive mutational analysis of the CHX10, GDF6, RAX, SOX2 and OTX2 genes was performed in 50 MAC subjects, highlighting the importance of genotyping large groups of patients from distinct ethnic origins for improving the estimation of the global involvement of particular MAC-causing genes.
Journal ArticleDOI
Dynamics of the Ovarian Reserve and Impact of Genetic and Epidemiological Factors on Age of Menopause
Emanuele Pelosi,Eleanor M. Simonsick,Antonino Forabosco,José Elías García-Ortiz,David Schlessinger +4 more
TL;DR: The first quantitative graph of follicle numbers, distinguished from oocyte counts, across the reproductive lifespan is shown, and the current state of information about genetic and epidemiological risk factors in relation to possible preservation of reproductive capacity is reviewed.