Zobrazeno 1 - 10
of 247
pro vyhledávání: '"Lawrence C, Layman"'
Autor:
Mohammad-Reza Ghasemi, Hossein Sadeghi, Farzad Hashemi-Gorji, Reza Mirfakhraie, Vijay Gupta, Afif Ben-Mahmoud, Saman Bagheri, Katayoon Razjouyan, Shadab Salehpour, Seyed Hassan Tonekaboni, Mehdi Dianatpour, Davood Omrani, Mi-Hyeon Jang, Lawrence C. Layman, Mohammad Miryounesi, Hyung-Goo Kim
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-15 (2024)
Abstract Background and objective Autosomal recessive genetic disorders pose significant health challenges in regions where consanguineous marriages are prevalent. The utilization of exome sequencing as a frequently employed methodology has enabled a
Externí odkaz:
https://doaj.org/article/aeb9e5f8744b4746b6c6e83c686a2bff
Autor:
Abigayle B. Simon, Cassandra C. Derella, Marsha Blackburn, Jeffrey Thomas, Lawrence C. Layman, Matthew S. Nicholson, Jennifer Waller, Ahmed Elmarakby, Karim M. Saad, Ryan A. Harris
Publikováno v:
Cardiovascular Diabetology, Vol 22, Iss 1, Pp 1-12 (2023)
Abstract Background Endogenous estrogen is cardio-protective in healthy premenopausal women. Despite this favorable action of estrogen, animal models depict a detrimental effect of estradiol on vascular function in the presence of diabetes. The prese
Externí odkaz:
https://doaj.org/article/210b6d7177b144c1bc5fd9f22fd4ad8d
Autor:
Afif Ben-Mahmoud, Shotaro Kishikawa, Vijay Gupta, Natalia T. Leach, Yiping Shen, Oana Moldovan, Himanshu Goel, Bruce Hopper, Kara Ranguin, Nicolas Gruchy, Saskia M Maas, Yves Lacassie, Soo-Hyun Kim, Woo-Yang Kim, Bradley J. Quade, Cynthia C. Morton, Cheol-Hee Kim, Lawrence C. Layman, Hyung-Goo Kim
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-23 (2023)
Abstract In a patient diagnosed with both Kallmann syndrome (KS) and intellectual disability (ID), who carried an apparently balanced translocation t(7;12)(q22;q24)dn, array comparative genomic hybridization (aCGH) disclosed a cryptic heterozygous 4.
Externí odkaz:
https://doaj.org/article/bf1deb454d1b4cdc861f88bc21658a2b
Autor:
Jiyoung Lee, Yeonjoo Kim, Paris Ataliotis, Hyung-Goo Kim, Dae-Won Kim, Dorothy C. Bennett, Nigel A. Brown, Lawrence C. Layman, Soo-Hyun Kim
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-20 (2023)
Abstract WDR11, a gene associated with Kallmann syndrome, is important in reproductive system development but molecular understanding of its action remains incomplete. We previously reported that Wdr11-deficient embryos exhibit defective ciliogenesis
Externí odkaz:
https://doaj.org/article/fb98f512d0be43009776e9557a2f4d61
Autor:
Vijay Gupta, Afif Ben-Mahmoud, Bonsu Ku, Dinesh Velayutham, Zainab Jan, Abdi Yousef Aden, Ahmad Kubbar, Fouad Alshaban, Lawrence W. Stanton, Puthen Veettil Jithesh, Lawrence C. Layman, Hyung-Goo Kim
Publikováno v:
Frontiers in Psychiatry, Vol 14 (2023)
This study investigated the genetic underpinnings of autism spectrum disorder (ASD) in a Middle Eastern cohort in Qatar using exome sequencing. The study identified six candidate autism genes in independent simplex families, including both four known
Externí odkaz:
https://doaj.org/article/c16ac00a1bcd4c16a7757d6b44f8f09c
Autor:
Afif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, Pinang Shastri, Alberto de la Fuente, Yongsoo Park, Kyung Chul Shin, Chong Ae Kim, Aparecido Divino da Cruz, Irene Plaza Pinto, Lysa Bernardes Minasi, Alex Silva da Cruz, Laurence Faivre, Patrick Callier, Caroline Racine, Lawrence C. Layman, Il-Keun Kong, Cheol-Hee Kim, Woo-Yang Kim, Hyung-Goo Kim
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Genome-wide chromosomal microarray is extensively used to detect copy number variations (CNVs), which can diagnose microdeletion and microduplication syndromes. These small unbalanced chromosomal structural rearrangements ranging from 1 kb to 10 Mb c
Externí odkaz:
https://doaj.org/article/e23428a0e26c458789147c0c1b635ebe
Autor:
Hyung-Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaetan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri, Eric Muller, Dianalee McKnight, Erin Torti, Franz Rüschendorf, Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il-Keun Kong, Suneeta Madan-Khetarpal, Cheol-Hee Kim
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-15 (2019)
Abstract Background PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its disruption in three patients with balanced translocations. In addit
Externí odkaz:
https://doaj.org/article/f02d9289960547e38357f179ca8011af
Autor:
Soumia Brakta, Zoe A. Hawkins, Nikhil Sahajpal, Natalie Seman, Dina Kira, Lynn P. Chorich, Hyung-Goo Kim, Hongyan Xu, John A. Phillips, Ravindra Kolhe, Lawrence C. Layman
Publikováno v:
Human Genetics. 142:483-494
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f47e5e58a6ab916df2d102968e4c5b25
https://doi.org/10.1007/s00439-023-02522-8
https://doi.org/10.1007/s00439-023-02522-8
Autor:
Durkadin Demir Eksi, Yiping Shen, Munire Erman, Lynn P. Chorich, Megan E. Sullivan, Meric Bilekdemir, Elanur Yılmaz, Guven Luleci, Hyung-Goo Kim, Ozgul M. Alper, Lawrence C. Layman
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
Abstract Background Little is known about the genetic contribution to Müllerian aplasia, better known to patients as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Mutations in two genes (WNT4 and HNF1B) account for a small number of patients, but
Externí odkaz:
https://doaj.org/article/bcbb663442044972bea523c7d3c2c957
Autor:
Lawrence C. Layman, M.D.
Publikováno v:
F&S Reports, Vol 1, Iss 3, Pp 171-172 (2020)
Externí odkaz:
https://doaj.org/article/49d5f22d3f484c7791d2b8e416ada658