Results 51 to 60 of about 7,052 (205)

An Infant With Phakomatosis Pigmentovascularis Complicated by Multisystem Damage: Elaborate Care Leads to a Positive Outcome

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT This report highlights the value of multidisciplinary collaboration, personalized care, dynamic monitoring of seizure activity, and innovative skin management in a 2‐month‐old with Phakomatosis Pigmentovascularis. In parallel, the nursing team implemented a multidimensional “medical–social–psychological” support model, providing psychological ...
Kaimin Chen, Xiaoxia Huang, Xin Jin, Lilan He, Mingzhu He, Wenli Shen, Yuling Zheng   +6 more
wiley   +1 more source

CSI-OMIM - Clinical Synopsis Search in OMIM [PDF]

, 2011
Background The OMIM database is a tool used daily by geneticists. Syndrome pages include a Clinical Synopsis section containing a list of known phenotypes comprising a clinical syndrome.
Raphael Cohen, Avitan Gefen, Michael Elhadad, Ohad S Birk   +3 more
core   +1 more source

Addressing Gaps in Butterfly Population Monitoring to Catalyze Global Insect Conservation

Conservation Letters, Volume 19, Issue 2, March/April 2026.
ABSTRACT The conservation community sorely lacks a global indicator of change in insect populations. Given widespread insect declines, addressing this gap is key for conservation and policy targets. We suggest that butterfly monitoring programs can serve as the foundation for an effective global network of insect monitoring.
F. Riva, R. Schmucki, R. Cooke, M. Balalaikins, J. M. Barea‐Azcón, D. N. Basu, M. Böhm, T. C. Bonebrake, S. Chowdhury, O. Comay, A. O. Debrot, A. J. Dolezal, E. E. Dyer, B. Fontaine, Z. F. Fric, R. Girotra, N. J. B. Isaac, K. R. Nagesh, E. Kühn, K. Kunte, A. S. Kutt, M. Kuussaari, M. Larivee, N. Legall, V. V. Lien, H. M. Madden, D. Maes, S. P. McGaffin, L. McRae, X. Mestdagh, M. L. Munguira, M. Musche, H. I. Mynott, V. Nawge, G. Pe'er, L. B. Pettersson, J. Pippen, L. Ries, T. Roth, M. Šašić, J. Settele, C. Sevilleja, S. Sheikh, M. Sielezniew, R. Solis, C. Stefanescu, N. Titeux, E. Tzirkalli, A. Ubach, C. A. M. van Swaay, A. Walker, B. A. Woodcock, David B. Roy   +52 more
wiley   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Vitiligo

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 8, Page 968-987, August 2025.
Summary Vitiligo is a common pigment disorder of the skin resulting in destruction of melanocytes. Non‐segmental vitiligo (NSV) is an autoimmune disorder. The etiopathogenesis of segmental vitiligo (SV) remains incompletely understood. Genetic predisposition and increased vulnerability of melanocytes towards stressors lead to a melanocyte‐specific CD8+
Markus Böhm, Adrian Tanew
wiley   +2 more sources

Molecular and clinical characterization of albinism in a large cohort of Italian patients. [PDF]

, 2011
PURPOSE: The purpose of this study was to identify the molecular basis of albinism in a large cohort of Italian patients showing typical ocular landmarks of the disease and to provide a full characterization of the clinical ophthalmic manifestations.
Ciccodicola, A, de Berardinis, T, Di Iorio, V, FAZZI, Elisa Maria, Fecarotta, S, Fossarello, M, Galantuomo, Ms, Gargiulo, A, Iovine, A, Macaluso, C, Magli, A, Montefusco, S, Neri, A, Rossi, S, Signorini, S, Simonelli, F, Surace, Em, Testa, F   +17 more
core   +2 more sources

Ocular abnormalities in genetically deaf people [PDF]

, 2000
Purpose: In order to verify the prevalence of ocular abnormalities in patients who are deaf due to genetic causes, this paper presents the visual assessment of 97 deaf patients.
Brunoni, Decio, Chen, Jane, Longhitano, Silvia Bragagnolo, Sallum, Juliana Maria Ferraz   +3 more
core   +3 more sources

The Diverse Genetic Landscape of Hearing Impairment in South African Families

Clinical Genetics, Volume 108, Issue 5, Page 511-520, November 2025.
South African Families with Nonsyndromic (N = 24) and Syndromic Hearing Impairment (N = 21) with ≥ 2 affected members were analyzed. The underlying etiology was uncovered using exome and Sanger sequencing for 31 of these families. ABSTRACT To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and ...
Thashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza, Kalinka Popel, Carmen de Kock, Isabelle Schrauwen, Ambroise Wonkam, Suzanne M. Leal   +10 more
wiley   +1 more source

Open angle glaucoma as a manifestation of Waardenburg′s syndrome.

Indian Journal of Ophthalmology, 2000
Waardenburg′s syndrome is a rare, autosomal dominant disorder, with several clinical signs, each with variable penetrance. We report this case of Waardenburg′s syndrome with bilateral open-angle glaucoma with unique gonioscopic findings.
Gupta Viney, Aggarwal Harish
doaj  

Universal newborn hearing screening in the Lazio region, Italy [PDF]

, 2018
Background: The introduction of Universal Newborn Hearing Screening (UNHS) programs has drastically contributed to the early diagnosis of hearing loss in children, allowing prompt intervention with significant results on speech and language development ...
Cammeresi, Maria Gloria, Conti, Guido, Frezza, Simonetta, Giannantonio, Sara, Greco, Antonio, Marsella, Pasquale, Orlando, Maria Patrizia, Picciotti, Pasqualina Maria, Ralli, Massimo, Russo, Francesca Yoshie, Scorpecci, Alessandro, Turchetta, Rosaria   +11 more
core   +1 more source