Results 101 to 110 of about 7,127 (212)

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  

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

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

Short Anagen Syndrome: a case study [PDF]

, 2012
Short anagen syndrome is a relatively recently described entity. This syndrome is an unusual condition where the ana-gen growth phase of hair follicles is shorter than normal.
Alés Fernández, Martina, Camacho Martínez, Francisco Miguel   +1 more
core   +1 more source

Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy [PDF]

, 2003
Margarita Indelman, Richard N. Bergman, Michal Ramon, Eli Sprecher, Christian Hamel, Ken K. Nischal, Dorothy Thompson, Marie-Odile Surget, Hatam Ganthos, Benjamin T. Miller, Gabriele Richard, Raziel Lurie, Rina Leibu, Isabelle Russell‐Eggitt   +13 more
openalex   +1 more source

Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient

Frontiers in Medicine
Woolly hair (WH) is a hair shaft anomaly characterized by tightly curled hair that typically stops growing at a few inches. Autosomal recessive WH (ARWH; OMIM no.
Satoko Minakawa, Satoko Minakawa, Yasushi Matsuzaki, Toshihide Higashino, Tamio Suzuki, Hirofumi Tomita, Eijiro Akasaka, Daisuke Sawamura   +7 more
doaj   +1 more source

A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles [PDF]

, 2009
Muhammad Ayub, Sulman Basit, Musharraf Jelani, Fazal Ur Rehman, Muhammad Iqbal, Masoom Yasinzai, Wasim Ahmad   +6 more
openalex   +1 more source

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

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  

Targeting matriptase in breast cancer abrogates tumour progression via impairment of stromal-epithelial growth factor signalling. [PDF]

, 2015
Matriptase is an epithelia-specific membrane-anchored serine protease that has received considerable attention in recent years because of its consistent dysregulation in human epithelial tumours, including breast cancer.
Bergum, Christopher, Boerner, Julie, Colombo, Éloïc, Lang, Julie E, Leduc, Richard, List, Karin, Marsault, Eric, Molinolo, Alfredo A, Murray, Andrew S, Tanabe, Lauren M, Varela, Fausto A, Zoratti, Gina L   +11 more
core   +1 more source