Results 101 to 110 of about 7,293 (261)

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]

, 2014
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V, Hoehndorf, Robert, Schofield, Paul N   +2 more
core   +2 more sources

An essential role for LPA signalling in telencephalon development [PDF]

, 2014
Lysophosphatidic acid (LPA) has wide-ranging effects on many different cell types, acting through G-protein-coupled receptors such as LPAR6. We show that Xenopus lpar6 is expressed from late blastulae and is enriched in the mesoderm and dorsal ectoderm ...
Amaya, Bachy, Branney, Choi, Christen, Christen, Chun, Conlon, Contos, Contos, Dale, Dorey, Dubin, Eagleson, Elul, Estivill-Torrús, Fisher, Fletcher, Fotopoulou, Geach, Hecht, Herzog, Hoch, Hongo, Hébert, Inoue, Isaacs, Isaacs, Isaacs, Janssens, Kaplan, Kazantseva, Koike, Koike, LaBonne, Lea, Lee, Lee, Li, Lin, Lloyd, Lupo, Massé, Massé, Meyers, Mohammadi, Moody, Nie, Noguchi, Ohuchi, Paek, Papalopulu, Pasternack, Pasternack, Pownall, Shanmugalingam, Shimamura, Shimomura, Shimomura, Shimomura, Sive, Skoura, Small, Smith, Standley, Tokumura, Umezu-Goto, van Meeteren, Wallingford, Walshe, Webb, Wilson, Yanagida, Ye   +73 more
core   +2 more sources

Jefferson Digital Commons quarterly report: October-December 2019 [PDF]

, 2019
This quarterly report includes: Articles Dean\u27s Research Development Lunch Conference Dissertations Educational Materials From the Archives Grand Rounds and Lectures Journals and Newsletters Population Health Presentation Materials Posters Reports ...
Copeland, LIBT, James, Duinkerken, MSI, Kelsey, Gordon, MSLIS, MEd, MA, Larissa   +2 more
core   +2 more sources

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia [PDF]

, 2010
Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported.
Brice, G, Bunyan, DJ, Connell, F, Homfray, T, Jeffery, S, Kalidas, K, Lymphoedema Consortium, Mansour, S, Mitton, S, Mortimer, P, Ostergaard, P, Roberts, L   +11 more
core   +1 more source

An evaluation of the safety and efficacy of bimatoprost for eyelash growth in pediatric subjects

Clinical Ophthalmology, 2016
Mark Borchert,1 Suzanne Bruce,2 David Wirta,3 Steven G Yoelin,4 Sungwook Lee,5 Cheri Mao,5 Amanda VanDenburgh5 1Children’s Hospital Los Angeles, Los Angeles, CA, USA; 2Suzanne Bruce and Associates, PA, Houston, TX, USA; 3David Wirta and Associates,
Borchert M, Bruce S, Wirta D, Yoelin SG, Lee S, Mao C, VanDenburgh A   +6 more
doaj  

Christ — Siemens — Touraine syndrome (ectodermal anhydrone dysplasia) [PDF]

Саратовский научно-медицинский журнал, 2011
The article is concerned with observation of a child of 3,5 with hereditary Krista — Seimens — Turena syndrome.
Kuznetsova М.А., Karalskaya J.J.
doaj  

Hypotrichosis with juvenile macular dystrophy: Portuguese case [PDF]

, 2020
Fatima Zahra Elfatoiki, F Cordoliani, Pascal Pascal Regane, Aude Affortit-Demoge, M. Rybojad   +4 more
openalex   +1 more source

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia

American Journal of Ophthalmology Case Reports, 2019
Purpose: We describe a unique case of CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) and DNAH5-related primary ciliary dyskinesia (PCD) with progressive vision loss in a young Indian female without positive family history.
Kenneth C. Fan, Nimesh A. Patel, Nicolas A. Yannuzzi, Supalert Prakhunhungsit, Catherin I. Negron, Elisa Basora, Andrew A. Colin, Mustafa Tekin, Audina M. Berrocal   +8 more
doaj   +1 more source

A clinical and molecular characterisation of CRB1-associated maculopathy [PDF]

, 2018
To date, over 150 disease-associated variants in CRB1 have been described, resulting in a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa.
A Slavotinek, A Vincent, AI Hollander den, AI Hollander den, AI Hollander den, AI Hollander den, AJ Lotery, AJ Lotery, AK Mehalow, Andrew R. Webster, Anthony Robson, Anthony T. Moore, CH Alves, CH Alves, Chris F. Inglehearn, D Michel, DA Parry, DL McCulloch, E Assemat, FL Motta, Gavin Arno, GR Clark, Graham E. Holder, I Gosens, James A. Poulter, JM Ellingford, K Bujakowska, Kamron N. Khan, Keren J. Carss, KJ Carss, LP Pellissier, Lucy F. Raymond, M Ali, M Bach, M Corton, M Ehrenberg, M Pellikka, M Zhao, Maria M. van Genderen, Martin McKibbin, Michel Michaelides, Monica Armengol, N Shah, NA Bulgakova, Naushin Waseem, Omar A. R. Mahroo, P Charbel Issa, R Jaron, R Sanchez-Alcudia, RE Lamont, RH Henderson, S Hull, SH Cho, SH Tsang, SM Pocha, TS Aleman, Y Wolfson   +56 more
core   +3 more sources

Congenital Ciliary Hypotrichosis [PDF]

Ophthalmologica, 1964
R P, SARDA, H, CHARAN, P N, NAGPAUL
openaire   +2 more sources