Zobrazeno 1 - 10
of 64
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:
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
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
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
Autor:
Qin Sun, Yaping Yang, Carlos A. Bacino, Alan E Schlesinger, Alecia Willis, Brendan Lee, Matthew T. Hardison, Marcus J. Miller, Lindsay C. Burrage, Pengfei Liu, Sarah H. Elsea, Jennifer E. Posey
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 176-183 (2014)
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
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
Autor:
Alan E Schlesinger, Richard A. Gibbs, James T. Lu, Carlos A. Bacino, Philippe M. Campeau, Timothy J. Moss, Brendan Lee, Lindsay C. Burrage, David S. Liu
Publikováno v:
Clinical Dysmorphology. 22:76-80
Czech dysplasia, metatarsal type is an autosomal dominant skeletal disorder that is characterized by early-onset, progressive arthritis, brachydactyly of the 3rd and 4th toes, and characteristic radiographic findings in patients of normal stature. Pa
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
Autor:
Alan E Schlesinger, Amy R. Mehollin-Ray, Claudia A. Kozinetz, R. Paul Guillerman, Lisa L. Wang
Publikováno v:
American Journal of Roentgenology. 191:W62-W66
The purpose of this study was to summarize the radiographic skeletal findings in patients with Rothmund-Thomson syndrome (RTS) and to determine whether there is an association between the presence of skeletal abnormalities and the mutational status o
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/