Results 121 to 130 of about 573,924 (254)

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

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

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

Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

Indian Journal of Pathology and Microbiology, 2010
Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene.
Mitra Souvik, Samanta Moumita, Sarkar Mihir, Chatterjee Sukanta   +3 more
doaj  

22q11.2 deletion syndrome [PDF]

, 2015
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in
Bassett, Anne S., Emanuel, Beverly S., Marino, Bruno, McDonald-McGinn, Donna M., Morrow, Bernice E., Philip, Nicole, Scambler, Peter J., Sullivan, Kathleen E., Swillen, Ann, Vermeesch, Joris R., Vorstman, Jacob A. S., Zackai, Elaine H.   +11 more
core   +1 more source

Proteomic manifestations of genetic defects in autosomal recessive congenital ichthyosis.

Journal of Proteomics, 2019
Numerous genetic conditions give rise to a scaly skin phenotype as a result of impaired barrier function. Present work investigates the degree to which the departure from normal of ichthyosis corneocytes on the skin surface depends upon the basic defect ...
Noreen Karim, B. Durbin-Johnson, David M. Rocke, M. Salemi, B. Phinney, M. Naeem, R. Rice   +6 more
semanticscholar   +1 more source

Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype

European Medical Journal Dermatology
Congenital ichthyosis represents keratinisation disorders characterised by abnormal skin scaling across the entire body, leading to a red, denuded, and scaly appearance.
Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia   +4 more
doaj   +1 more source

Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Turkish Journal of Hematology, 2013
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement.
Seçil Arslansoyu Çamlar, Pınar Gençpınar, Balahan Makay, Ayşe Yüzbaşıoğlu, Nur Arslan, Serap Emre Dökmeci, Özden Anal, Galip Köse   +7 more
doaj   +1 more source

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.

Acta Dermato-Venereologica, 2019
Autosomal recessive congenital ichthyosis (ARCI) is a group of rare non-syndrome diseases that affect cornification. PNPLA1 is one of the 12 related genes identified so far.
U. Esperón-Moldes, M. Ginarte Val, L. Rodríguez‐Pazos, L. Fachal, J. M. Azaña, M. Fons, Mónica Viejo Diaz, A. Vega   +7 more
semanticscholar   +1 more source