Results 121 to 130 of about 528,814 (282)

Соціальна адаптація хворих на іхтіоз: гендерні, вікові та спадкові особливості [PDF]

, 2015
Представлено результати вивчення особливостей соціальної адаптації хворих на іхтіоз Подільського регіону відносно гендерних, вікових та спадкових особливостей.
Дмитренко, С.В.
core  

Complex Dermatological Manifestations of Poorly Controlled Diabetes: A Case of Acquired Ichthyosis

Case Reports in Dermatological Medicine, Volume 2026, Issue 1, 2026.
Acquired ichthyosis (AI) is a rare dermatological disorder characterized by dry, scaly skin. This case involves a 67‐year‐old Hispanic male with poorly controlled diabetes mellitus (DM) who presented with generalized dryness and itchiness after diabetic ketoacidosis.
Sam Fathizadeh, Alexander D. Woods, Saul Turcios Escobar, Maria Tsoukas, Semonti Nandi   +4 more
wiley   +1 more source

Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]

, 2005
This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M., Golalipour, M.J., Vakili, M.A.   +2 more
core  

Whole‐Genome Sequencing in Galicia Reveals Male‐Biased Pre‐Islamic North African Ancestry, Subtle Population Structure, and Microgeographic Patterns of Disease Risk

The FASEB Journal, Volume 39, Issue 24, 31 December 2025.
Whole genome sequencing of Galicians (GALOMICS; 17.2 M variants) reveals a genetic landscape consistent with broader Iberian patterns, characterized by only five clusters. Phylogenetic analyses indicate recent divergence and mild regional inbreeding.
Jacobo Pardo‐Seco, Alba Camino‐Mera, Xabier Bello, Alberto Gómez‐Carballa, Lúa Castelo‐Martínez, Conrado Martínez‐Cadenas, Federico Martinón‐Torres, Antonio Salas   +7 more
wiley   +1 more source

Invasive ocular surface squamous neoplasia in congenital ichthyosiform erythroderma

TNOA Journal of Ophthalmic Science and Research, 2017
We report an invasive type of ocular surface squamous neoplasia (OSSN) in a patient with congenital ichthyosiform erythroderma. A male patient aged 44 years, with ichthyosis presented with progressively growing right corneal mass, with decreasing vision.
Dhivya Ashok Kumar, Sasikala Nindra Krishna   +1 more
doaj   +1 more source

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis

Human Mutation, 2018
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of rare disorders of keratinization characterized by generalized abnormal scaling of the skin.
A. Hotz, E. Bourrat, J. Küsel, V. Oji, S. Alter, L. Hake, M. Korbi, H. Ott, I. Hausser, A. Zimmer, J. Fischer   +10 more
semanticscholar   +1 more source

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]

, 2014
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève, Helman, Guy, Leventer, Richard J., McNeill, Nathan H., on behalf of the GLIA Consortium, Parikh, Sumit, Patterson, Marc C., Pizzino, Amy, Rizzo, William B., Schmidt, Johanna L., Simons, Cas, Taft, Ryan J., van der Knaap, Marjo S., van Hove, Johan, Vanderver, Adeline   +14 more
core   +2 more sources

Progress in the use of adeno-associated viral vectors for gene therapy [PDF]

, 2004
The development of safe and efficient gene transfer vectors is crucial for the success of gene therapy trials. A viral vector system promising to meet these requirements is based on the apathogenic adeno-associated virus (AAV-2), a member of the ...
Braun-Falco, M., Buning, H., Hallek, M.
core   +1 more source

NIPAL4 deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy

Veterinary Medicine and Science, 2019
Ichthyoses represent a heterogeneous group of hereditary cornification disorders characterized by generalized scaling of the skin. An autosomal recessive congenital ichthyosis (ARCI) has been described in American Bulldogs and is caused by a variant in ...
A. Briand, Noelle Cochet-Faivre, E. Reyes-Gomez, Ambre Jaraud-Darnault, L. Tiret, L. Chevallier   +5 more
semanticscholar   +1 more source

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases

Acta Dermato-Venereologica
Inherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients.
Ruiyu Xiang, Xin Huang, Yihe Liu, Shuya Sun, Di Hua, Ran Mo, Yong Yang, Zhiming Chen   +7 more
doaj   +1 more source