Zobrazeno 1 - 10
of 58
pro vyhledávání: '"Alan E. Schlesinger"'
Autor:
Jennifer E. Posey, Lindsay C. Burrage, Marcus J. Miller, Pengfei Liu, Matthew T. Hardison, Sarah H. Elsea, Qin Sun, Yaping Yang, Alecia S. Willis, Alan E. Schlesinger, Carlos A. Bacino, Brendan H. Lee
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 176-183 (2014)
Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism caused by mutations in SLC7A7, which encodes a component of the dibasic amino acid transporter found in intestinal and renal tubular cells. Patients typicall
Externí odkaz:
https://doaj.org/article/8843537d916b4bad9f460ba4e551629d
Autor:
Girish S. Shroff, Mark M. Hammer, Daniel Ocazionez, Kasra Rahbar, Sharyn I. Katz, Elizabeth Guy, Xiao Shi, Arun C. Nachiappan, Alan E Schlesinger, Eduardo J. Mortani Barbosa
Publikováno v:
RadioGraphics. 37:52-72
Tuberculosis is a public health problem worldwide, including in the United States-particularly among immunocompromised patients and other high-risk groups. Tuberculosis manifests in active and latent forms. Active disease can occur as primary tubercu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db1e83df5308a81040a97b7ae02a6586
https://doi.org/10.1148/rg.2017160032
https://doi.org/10.1148/rg.2017160032
Autor:
Davut Pehlivan, Jennifer E. Posey, David Tegay, Robert Haber, John Dronzek, William Poueymirou, Yavuz Bayram, Aris N. Economides, Kristen Howell, Alan E Schlesinger, Kalyan C. Nannuru, Ingrid S. Paine, Harikiran Nistala, Chia-Jen Siao, Yavuz Sahin, Richard A. Gibbs, V. Reid Sutton, Alberto Santiago Cornier, Melissa A. Kelly, Gozde Yesil, Johanna Jimenez, Marc S. Williams, James R. Lupski, Bo Yuan, Alper Gezdirici, Claudia Gonzaga-Jauregui, Silvia Smaldone, Nan Wu, Zeynep Coban Akdemir, Kristy Nieman, Simon Carlo, Saathyaki Rajamani, Johnathon R. Walls, Jeffrey Staples, Norman Ramirez, Shek Man Chim, Jawid M Fatih
Publikováno v:
European Journal of Human Genetics
Previously we reported the identification of a homozygous COL27A1 (c.2089G>C; p.Gly697Arg) missense variant and proposed it as a founder allele in Puerto Rico segregating with Steel syndrome (STLS, MIM #615155); a rare osteochondrodysplasia character
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e26db7b48c80bfad32cdf8f8ec12609b
https://pubmed.ncbi.nlm.nih.gov/32376988
https://pubmed.ncbi.nlm.nih.gov/32376988
Autor:
Mohammed Almannai, Alan E Schlesinger, Keren Machol, Richard A. Gibbs, Mahim Jain, Luisa Bonafé, Thibault Orand, Brendan Lee, Alyssa A. Tran, James T. Lu, Sheila Unger, Philippe M. Campeau, Lindsay C. Burrage, Yuqing Chen, Andrea Superti-Furga, Ana Belinda Campos-Xavier
Publikováno v:
American Journal of Medical Genetics Part A. 173:733-739
Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD "Sutcliffe" type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-lik
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::106f66aaf43a3e7212bdb01259124a45
https://doi.org/10.1002/ajmg.a.38059
https://doi.org/10.1002/ajmg.a.38059
Autor:
Brendan Lee, Caressa Lietman, Monica Grover, James T. Lu, Alan E Schlesinger, Richard A. Gibbs, Philippe M. Campeau
Publikováno v:
Journal of Bone and Mineral Research. 28:2333-2337
Osteogenesis imperfecta (OI) is typically caused by mutations in type 1 collagen genes, but in recent years new recessive and dominant forms caused by mutations in a plethora of different genes have been characterized. OI type V is a dominant form ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cffb292ae6c3a15541261d778c481e36
https://doi.org/10.1002/jbmr.1983
https://doi.org/10.1002/jbmr.1983
Publikováno v:
American journal of medical genetics. Part A. 173(2)
Weaver syndrome is a rare condition characterized by overgrowth, macrocephaly, accelerated osseous maturation, variable intellectual disability, and characteristic facial features. Pathogenic variants in EZH2, a histone methyltransferase, have previo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0466d84bf0685596f807ed6ddb020324
https://pubmed.ncbi.nlm.nih.gov/27868325
https://pubmed.ncbi.nlm.nih.gov/27868325
Autor:
Lindsay C. Burrage, Jennifer E. Posey, Sandesh C.S. Nagamani, James T. Lu, Tanya N. Eble, Lisa E. Kratz, Alan E Schlesinger, Richard A. Gibbs, Philippe M. Campeau, Brendan Lee
Conradi-Hünermann-Happle syndrome, or X-linked Dominant Chondrodysplasia Punctata Type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While typically lethal in males, females with CDPX2 generally manifest by infancy or childhood with var
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af9ed6fd2b60e2f751778fcd5eb70991
https://europepmc.org/articles/PMC4449285/
https://europepmc.org/articles/PMC4449285/
Publikováno v:
American Journal of Roentgenology. 180:1147-1153
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c154993aca2b352d6c3fc878c71d9498
https://doi.org/10.2214/ajr.180.4.1801147
https://doi.org/10.2214/ajr.180.4.1801147
Publikováno v:
Pediatric Radiology. 29:598-601
Background. Omental infarction has been previously reported in the adult surgical and imaging literature; however, the imaging features of this entity in children have received little attention. Objective. The purpose of our study was to identify the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bdee8b271c7bd5e245dff156bdbfa0c
https://doi.org/10.1007/s002470050657
https://doi.org/10.1007/s002470050657