Results 31 to 40 of about 19,181 (266)

Waardenburg syndrome type I: dental phenotypes and genetic analysis of an extended family [PDF]

, 2016
Background: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations ...
Aquino, Sibele Nascimento de, Cardoso, Aline-Francoise, Della Coletta, Ricardo, Frota, Ana-Cláudia, Gomes, Andreia, Martelli Júnior, Hercílio, Paranaíba, Lívia M. R., Santos Neto, Pedro Eleutério dos, Solia-Nasser, Luciano   +8 more
core   +1 more source

Griscelli syndrome type 2: long-term follow-up after unrelated donor bone marrow transplantation [PDF]

, 2009
Griscelli syndrome (GS) is a rare autosomal recessive disease characterized by silvery hair ('partial albinism'). Three forms exist; GS type 2 (GS2), the most common one, is characterized by severe primary immunodeficiency with acute episodes of ...
Borroni, R, Calvieri, S, Carlesimo, M, Carrozzo, A, de Felice, C, Menichelli, A, Rossi, A   +6 more
core   +1 more source

Common variants in FOXP1 are associated with generalized vitiligo [PDF]

, 2010
In a recent genome-wide association study of generalized vitiligo, we identified ten confirmed susceptibility loci. By testing additional loci that showed suggestive association in the genome-wide study, using two replication cohorts of European descent,
A Alkhateeb, Alain Taïeb, Andreas Overbeck, Anthony P Weetman, C Shi, Christina M Mailloux, David J Gawkrodger, DF Luo, Dorothy C Bennett, E Helen Kemp, Giovanni Leone, H Hu, HD Ochs, JC Barrett, Jo Lambert, Katherine Gowan, Khaled Ezzedine, Margaret R Wallace, Mauro Picardo, Nanny van Geel, Pamela R Fain, Paulene J Holland, RA Spritz, Richard A Spritz, RM Salazar-Gonzalez, S Horvath, S Purcell, SA Birlea, Sheri L Riccardi, Stanca A Birlea, Thomas Jouary, Wayne T McCormack, X Feng, Y Jin, Ying Jin   +34 more
core   +2 more sources

Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease [PDF]

, 2020
A distinct Darier phenotype presenting with confetti-like hypopigmented macules was first described in 1965. Designated as "guttate leukoderma," this skin finding is a rarely-reported presentation of Darier disease.
Grossman, Shoshana K, Hsu, Sylvia, Lee, Jason B, Sun, Christina W, Valdes-Rodriguez, Rodrigo   +4 more
core  

Laser surgery for eyelid margin tumors [PDF]

, 2018
L
Kemény-Beke, Ádám
core   +1 more source

A case of iatrogenic linear streaky hypopigmentation mimicking vitiligo

Pigment International
Intralesional corticosteroid (I/L CS) is a frequently used therapy in dermatology that can seldom cause linear hypopigmentation. Very rarely this linear hypopigmentation may present as multiple streaks.
Vibhu Mendiratta, Meena A Kumar, Himadri Sinha   +2 more
doaj   +1 more source

Melasma-like hyperpigmentation: A rare side effect of imatinib mesylate

Journal of the Scientific Society, 2023
Imatinib mesylate is an oral tyrosine kinase inhibitor used chiefly to treat chronic myeloid leukemia. In the literature, hypopigmentation is a commonly reported side effect of imatinib therapy; however, the cases of melasma-like hyperpigmentation due to
Shreya Agrawal, Bhushan Madke, Sugat Jawade, Adarsh Lata Singh   +3 more
doaj   +1 more source

Adverse effects of extra-articular corticosteroid injections: A systematic review [PDF]

, 2010
Background. To estimate the occurrence and type of adverse effects after application of an extra-articular (soft tissue) corticosteroid injection. Methods.
Bierma-Zeinstra, S.M. (Sita), Brinks, A. (Tineke), Koes, B.W. (Bart), Verhaar, J.A.N. (Jan), Volkers, A.C. (Aloysius)   +4 more
core   +1 more source

Pratol, an O-Methylated Flavone, Induces Melanogenesis in B16F10 Melanoma Cells via p-p38 and p-JNK Upregulation

Molecules, 2017
Tyrosinase is the rate-limiting enzyme critical for melanin synthesis. It controls pigmentation in the skin. Activation of tyrosinase is currently the most common approach in the development of tanning and haircare products.
You Chul Chung, Seoyeon Kim, Jin Hwa Kim, Geun Soo Lee, Jung No Lee, Nam Ho Lee, Chang-Gu Hyun   +6 more
doaj   +1 more source

Aberrant Pigmentation in a Schooling Cownose Ray (<i>Rhinoptera bonasus</i>) in Chesapeake Bay, Virginia, USA. [PDF]

Ecol Evol
We report a rare case of aberrant pigmentation in a cownose ray (Rhinoptera bonasus) observed schooling naturally within Chesapeake Bay, Virginia. Drone and in‐water imagery revealed a piebald‐like pattern without any disruption to coordinated group behavior, providing the first in situ evidence that pigmentation anomalies in this species do not ...
Bennett-Smith MF, Griffith T, Janulis H, Richardson EB, Tomasetti SJ.   +4 more
europepmc   +2 more sources