Results 81 to 90 of about 248,586 (158)

Congenital heart disease in harlequin ichthyosis: Case series

, 2019
Harlequin ichthyosis (HI) is the most severe form of congenital ichthyosis and inherited in an autosomal recessive manner. The disease is marked by severe thickened and scaly skin on the entire body.
Bhupendra Verma, Anand Mohan, Amrita Singh, Abhishek Abhinay   +3 more
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Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis [PDF]

, 2018
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and ...
C. Fagerberg, Hausser, I, Vestergaard, V, L. Heinz, A. Dragomir, Heinz, Lisa, Hotz, A, Fischer, J, Törmä, Hans, Bourrat, E, Bygum, A; id_orcid, Fagerberg, Christina, Dragomir, Anca, Bygum, Anette, A. Bygum, J. Fischer, A. Vahlquist, A.D. Zimmer, Fischer, Judith, Dragomir, A, Törmä, H, Zimmer, Andreas D., H. Zhang, Hausser, Ingrid, Fagerberg, C; id_orcid, Vahlquist, A, E. Bourrat, M.-A. Rauschendorf, Hotz, Alrun, Bourrat, Emmanuelle, H. Törmä, Rauschendorf, Marc-Alexander, Rauschendorf, M-A, Zimmer, A D, Vestergaard, Vibeke, V. Vestergaard, A. Hotz, Vahlquist, Anders, Zhang, Hanqian, Zhang, H, Heinz, L, I. Hausser   +41 more
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Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed [PDF]

, 2012
The domestic dog (Canis familiaris) segregates more naturally-occurring diseases and phenotypic variation than any other species and has become established as an unparalled model with which to study the genetics of inherited traits. We used a genome-wide
Ricketts, SL, Penderis, J., Claudia Hartley, Louisa J. Hayward (188421), Oliver P Forman, Claudia Hartley (188416), Hartley, C, Hayward, LJ, Cathryn S Mellersh, Louisa J Hayward, Sally L. Ricketts (188424), Forman, OP, Forman, O.P., Hayward, L.J., Mellersh, CS, Cathryn S. Mellersh (113470), Sally L Ricketts, Oliver P. Forman (188411), Jacques Penderis (128969), Mellersh, C.S., Hartley, C., Jacques Penderis, Penderis, J, Ricketts, S.L.   +23 more
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Revised nomenclature and classification of inherited ichthyoses:Results of the First Ichthyosis Consensus Conference in Sorze 2009 [PDF]

, 2010
Background: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument.
Mary Williams, Jacyk, Witold Kamil, Matthias Schmuth, Pierre Vabres, Vabres, P., Oji, V., Jacyk, Witold K, Elias, Peter, Toro, J.R., Akiyama, M., Taieb, A., Irene Leigh, Leonard Milstone, Jacyk, W.K., Blanchet, Bardon C., Harper, John I., Bodemer, Christine, John Harper, Eli Sprecher, Maurice Van Steensel, Bodemer, C., Tadini, G., Ishida-Yamamoto, Akemi, Hausser, I., Harper, John, Amy S. Paller, Akiyama, Masashi, Schmuth, M., Shimizu, Hiroshi, Richard, Gabriele, Richard, G., Milstone, Leonard, Traupe, H., Vahlquist, A., Sprecher, Eli, Hashimoto, T., Bourrat, E., Elias, P., Judith Fischer, Bardon, Claudine Blanchet, Elias, Peter M., Fleckman, Philip, Tadini, Gianluca, Morice-Picard, Fanny, Ishida-Yamamoto, A., Hovnanian, A., Shimizu, H., Akemi Ishida-Yamamoto, Philip Fleckman, Schmuth, Mathias, Jacyk, Witold K., Vabres, Pierre, Jorge R. Toro, Peter Elias, Coudiere, P., Coudiere, Philippe, Hohl, D., Bourrat, Emmanuelle, Leachman, S., Daniel Hohl, Leachman, Sancy, Alain Taïeb, Digiovanna, John J., John J. DiGiovanna, Vahlquist, Anders, Hans Christian Hennies, Hohl, Daniel, Hashimoto, Takashi, Taïeb, Alain, Van, Steensel M., Hennies, Hans C., Leigh, Irene, Michal Gina, Sprecher, E., Hovnanian, Alain, Juliette Mazereeuw-Hautier, Fischer, Judith, Christine Bodemer, Vinzenz Oji, Anders Vahlquist, Milstone, L., Witold K. Jacyk, Gina, M., Fleckman, P., Williams, M., Schmuth, Matthias, Mazereeuw-Hautier, J., Richard, Gabrielle, Paller, Amy S., Gabriele Richard, Heiko Traupe, DiGiovanna, John J, Toro, Jorge R, Ingrid Hausser, Blanchet Bardon, Claudine, Masashi Akiyama, Toro, Jorge R., DiGiovanna, J.J., Claudine Blanchet Bardon, Emmanuelle Bourrat, Hiroshi Shimizu, Gina, Michal, Gianluca Tadini, Milstone, Leonard M., Harper, J., Mazereeuw-Hautier, Juliette, Traupe, Heiko, Morice-Picard, F., Takashi Hashimoto, van Steensel, Maurice, Philippe Coudiere, Paller, Amy S, Hausser, Ingrid, Paller, A.S., Fanny Morice-Picard, Sancy Leachman, Oji, Vinzenz, Vahlquist, Anders,, Fischer, J., Leigh, I., Alain Hovnanian, Hennies, Hans Christian, Williams, Mary, Van Steensel, M., Zúñiga-Espitia, Iván Darío, Satizábal Soto, José María, Moreno Giraldo, Lina Johanna, Hennies, H.C., Blanchet Bardon, C.   +128 more
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Congenital ichthyosis : an overview of current and emerging therapies

, 2008
Congenital ichthyosis is a collective name for a group of monogenetic disorders of cornification, sometimes associated with systemic symptoms. There may be an abnormal quality or quantity of scale produced, abnormal thickness of stratum corneum or ...
Virtanen, Marie,, Vahlquist, Anders,, Gånemo, Agneta,   +2 more
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A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis

, 2020
Summary Autosomal recessive congenital ichthyosis (ARCI) is a group of rare, clinically heterogeneous skin disorders that affect cornification. ARCI includes lamellar ichthyosis, congenital ichthyosiform erythroderma and harlequin ichthyosis.
Fonseca Mendoza, Dora Janeth, Restrepo Fernández, Carlos Martín, Medina, C. L., Mosquera, H., Vergara, J. I., Ortega?Recalde, O., Moreno, M. B., Rojas, R. F., Laissue, P.   +8 more
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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
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Pleomorphic Ichthyosis: Proposed Name for a Heterogeneous Group of Congenital Ichthyoses with Phenotypic Shifting and Mild Residual Scaling

, 2010
Congenital ichthyosis is often associated with typical neonatal phenotypes, "Collodion baby" and "Harlequin foetus", later transforming into severe lamellar or erythrodermic ichthyosis.
A Vahlquist, Vahlquist, Anders,
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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  

Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report

Case Reports in Oncological Medicine
Ichthyosis vulgaris (IV) is an inherited disorder characterized by the scaling of the skin. It is caused by mutations in the filaggrin gene. IV is a reactive skin manifestation that may be associated with malignant hematological disease.
Şule Çalışkan Kamış, Begül Yağcı   +1 more
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