Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Makanko Komara"'
Autor:
Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Abstract Background Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological
Externí odkaz:
https://doaj.org/article/d24638f2efce49c3b8ea400cc414438d
Autor:
Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Margaret Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al-Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben-Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder Jr, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne K. Lampe, Ajith Kumar, Melissa Lees, Muriel Holder-Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, The DDD study, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-2 (2019)
It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This Correction article shows the revised statement. The original article has been updated.
Externí odkaz:
https://doaj.org/article/9deb62b3cdbb447d9597c9b55e926986
Autor:
Ali Etemad, Ramachandran Vasudevan, Seyyed Reza Pishva, Abdollah Karimi, Mohammad Reza Sabri, Fauziah Othman, Patimah Ismail, Farzad Heidari, Makanko Komara
Publikováno v:
International Journal of Molecular Sciences, Vol 14, Iss 2, Pp 2739-2752 (2013)
Ventricular septal defect (VSD) is one of the most common types of congenital heart defects (CHD). There are vivid multifactorial causes for VSD in which both genetic and environmental risk factors are consequential in the development of CHD. Methion
Externí odkaz:
https://doaj.org/article/d8c62a9a8f0c4c5ab91bb1e634326764
Publikováno v:
Carcinogenesis
Over 70% of breast cancers express the estrogen receptor (ER) and depend on ER activity for survival and proliferation. While hormone therapies that target receptor activity are initially effective, patients invariably develop resistance which is oft
Autor:
Aslam Nagi, Jozef Hertecant, Lihadh Al-Gazali, Olfat Al-Zaabi, Bassam R. Ali, Waseem Fathallah, Makanko Komara, Christine M. Eng, Yaping Yang, Hong Cui, Mohammad Al Sorkhy, Mohammad A. Ghattas
Publikováno v:
European Journal of Medical Genetics. 60:212-216
Pathogenic variants in theP21 protein (Cdc42/Rac)-activated kinase 3gene (PAK3) lead to a rare non syndromic X-linked intellectual disability. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1 pr
Autor:
Yaping Yang, Sarah H. Elsea, Orly Elpeleg, Donna M. Muzny, Vinod Varghese, Hanoch Cassuto, Mohnish Suri, Sue Holder, AK Lampe, Weimin Bi, Wenmiao Zhu, Muriel Holder-Espinasse, Shane McKee, Christine M. Eng, Lihadh Al-Gazali, Vardiella Meiner, Aisha Al Shamsi, Kim L. McBride, Melissa Lees, June Anne Gold, Janet S. Soul, Soo Mi Park, Birgitta Bernhard, Sonal Mahida, Klaas J. Wierenga, Daryl A. Scott, Elizabeth Roeder, Kimberly Nugent, Vivienne McConnell, Jill M. Harris, Ed Blair, J. Lloyd Holder, Makanko Komara, Seema R. Lalani, Brett H. Graham, Andrea M. Lewis, Jill A. Rosenfeld, Ziva Ben-Neriah, Elizabeth A. Fanning, Richard A. Gibbs, Pengfei Liu, Lionel Van Maldergem, Fan Xia, Ludmila Matyakhina, James B. Gibson, Victoria Harrison, Julie Vogt, Francesco Vetrini, Rebecca O. Littlejohn, James R. Lupski, Ajith Kumar, Jennifer E. Posey, Margaret Marlatt, Joseph T. Alaimo, Matthew Pastore, Laurie H. Seaver, Lindsay C. Burrage
Publikováno v:
Genome Medicine
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)
Background Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological manifesta
Publikováno v:
Meta Gene
Mutations in DYNC1H1, the gene encoding the largest cytoplasmic dynein, have been associated with a wide spectrum of neurodegenerative disorders. In this study, we describe a child in whom a novel de novo likely pathogenic variant in the motor domain
Autor:
Jing Zhang, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A. Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al-Gazali, Aisha M. Al Shamsi, Makanko Komara, Bassam R. Ali, Elizabeth Roeder, Laura McAuley, Daniel S. Roy, David K. Manchester, Pilar Magoulas, Lauren E. King, Vickie Hannig, Dominique Bonneau, Anne-Sophie Denommé-Pichon, Majida Charif, Thomas Besnard, Stéphane Bézieau, Benjamin Cogné, Joris Andrieux, Wenmiao Zhu, Weimin He, Francesco Vetrini, Patricia A. Ward, Sau Wai Cheung, Weimin Bi, Christine M. Eng, James R. Lupski, Yaping Yang, Ankita Patel, Seema R. Lalani, Fan Xia, Paweł Stankiewicz
Publikováno v:
Human Genetics. 136:1009-1011
Autor:
Kim L. McBride, Soo Mi Park, Richard A. Gibbs, Shane McKee, Melissa Lees, Wenmiao Zhu, Yaping Yang, Jill A. Rosenfeld, Vardiella Meiner, Elizabeth A. Fanning, Victoria Harrison, Lihadh Al-Gazali, Anne K. Lampe, Ed Blair, Sue Holder, Klaas J. Wierenga, Ajith Kuttannair Kumar, Fan Xia, Sarah H. Elsea, Andrea M. Lewis, Vivienne McConnell, Birgitta Bernhard, Orly Elpeleg, Mohnish Suri, Elizabeth Roeder, Lionel Van Maldergem, J. Lloyd Holder, Muriel Holder-Espinasse, Rebecca O. Littlejohn, Sonal Mahida, Aisha Al Shamsi, June Anne Gold, Joseph T. Alaimo, Ziva Ben-Neriah, Jennifer E. Posey, Vinod Varghese, Julie Vogt, Donna M. Muzny, Makanko Komara, Christine M. Eng, Daryl A. Scott, Francesco Vetrini, Brett H. Graham, Seema R. Lalani, Kimberly Nugent, Hanoch Cassuto, Weimin Bi, Jill M. Harris, Pengfei Liu, Matthew Pastore, Ludmila Matyakhina, James B. Gibson, James R. Lupski, Margaret Marlatt, Laurie H. Seaver, Lindsay C. Burrage, Janet S. Soul
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-2 (2019)
Genome Medicine
Genome Medicine
It was highlighted that the original article [1] contained a typographical error in the Results section. Subject 17 was incorrectly cited as Subject 1. This Correction article shows the revised statement. The original article has been updated.
Autor:
Lihadh Al-Gazali, Bassam R. Ali, Nesrin Gariballa, Anne John, Makanko Komara, Aisha M. Al-Shamsi, Afif Ben-Mahmoud
Publikováno v:
American journal of medical genetics. Part A. 173(5)
Steel syndrome is an autosomal recessive disease characterized by skeletal abnormalities and dysmorphic features. The first mutation associated with this syndrome was reported in Puerto Rican children. In this study, we identified a novel homozygous