Results 111 to 120 of about 5,711 (254)

Congenital Ciliary Hypotrichosis [PDF]

Ophthalmologica, 1964
Hari Charan, P.N. Nagpaul, R.P. Sarda
openaire   +3 more sources

Activation of Transient Receptor Potential Vanilloid 3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes [PDF]

, 2018
K
Angyal, Ágnes, Béke, Gabriella, Bíró, Tamás, Kawada, Naoki, Kemény, Lajos, Kistamás, Kornél, Lisztes, Erika, Mihály, Johanna, Mori, Tomohiro, Nánási, Péter Pál, Szegedi, Andrea, Szöllősi, Attila Gábor, Vasas, Nikolett, Yanagida, Takashi   +13 more
core   +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

Manajemen Natal Teeth (Laporan Kasus) [PDF]

, 2010
Natal teeth merupakan gigi yang tumbuh pada awal masa klehiran dan hampir seluruhnya kasus terjadi pada masa gigi desidui. Walaupun beberapa kasus tidak menunjukkan Natal teeth menimbulkan masalah komplikasi yang serius, kompikasi yang sering terjadi ...
Christiono, S. (Sandy)
core  

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

Klinische und experimentelle Beobachtung über Alopecia (Hypotrichosis) congenita [PDF]

, 1911
A. Büschke
openalex   +1 more source

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

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia [PDF]

, 2013
Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH.
Almeida, S, Amaral, C, Chen, I, Gowrishankar, K, Hu, Y, Passos-Bueno, MR, Reichenberger, E, Tiziani, V   +7 more
core   +3 more sources

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

Members of the CREB/ATF and AP1 family of transcription factors are involved in the regulation of SOX18 gene expression [PDF]

, 2011
The SOX18 transcription factor plays an important role in endothelial cell specification, angiogenesis and atherogenesis. By profiling transcription factor interactions (TranSignal TM TF Protein Array) we identified several transcription factors ...
Kovačević-Grujičić Nataša, Krstić A., Milivojević Milena, Petrović Isidora, Popović Jelena, Stevanović Milena   +5 more
core   +2 more sources