Results 141 to 150 of about 2,841 (190)

Cutis Laxa [PDF]

Proceedings of the Royal Society of Medicine, 1948
openaire   +1 more source

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa. [PDF]

J Inherit Metab Dis, 2020
Mohamed M, Gardeitchik T, Balasubramaniam S, Guerrero-Castillo S, Dalloyaux D, van Kraaij S, Venselaar H, Hoischen A, Urban Z, Brandt U, Al-Shawi R, Simons JP, Frison M, Ngu LH, Callewaert B, Spelbrink H, Kallemeijn WW, Aerts JMFG, Waugh MG, Morava E, Wevers RA.   +20 more
europepmc   +1 more source

A novel intronic variant of ATP6V0A2-related cutis laxa with impaired cognitive function [PDF]

Shanshan Xue, Wujuan Shi
openalex   +1 more source

Generalized acquired cutis laxa and monoclonal gammopathy of undetermined significance : a case report

, 2013
B. Lerondeau
openalex   +1 more source

The first Japanese case of small airway disease in a patient with autosomal dominant cutis laxa harboring frameshift variant in exon 30 of the elastin gene [PDF]

Masanori Kaji, Ho Namkoong, Shotaro Chubachi, Hiromu Tanaka, Takanori Asakura, Mizuha Hashiguchi, Mamiko Yamada, Hisato Suzuki, Naoya Tanabe, Yoshitake Yamada, Takeshi Ouchi, Atsutoshi Tsuji, Naoki Hasegawa, Kenjiro Kosaki, Koichi Fukunaga, Tomoko Uehara   +15 more
openalex   +1 more source

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa. [PDF]

Front Immunol, 2018
Neves JF, Doffinger R, Barcena-Morales G, Martins C, Papapietro O, Plagnol V, Curtis J, Martins M, Kumararatne D, Cordeiro AI, Neves C, Borrego LM, Katan M, Nejentsev S.   +13 more
europepmc   +1 more source

Cutis laxa: reduced elastin gene expression in skin fibroblast cultures as determined by hybridizations with a homologous cDNA and an exon 1-specific oligonucleotide.

, 1988
David R. Olsen, Michael Fazio, Ava Shamban, J. Rosenbloom, Jouni Uitto   +4 more
openalex   +1 more source

Genetic Heterogeneity of Cutis Laxa: A Heterozygous Tandem Duplication within the Fibulin-5 (FBLN5) Gene

, 2003
Dessislava Markova, Yaqun Zou, Franziska Ringpfeil, Takako Sasaki, Günter Kostka, Rupert Timpl, Jouni Uitto, Mon‐Li Chu   +7 more
openalex   +1 more source

Acquired cutis laxa: Hematological insights and therapeutic implications in a paraneoplastic context

Joe Khodeir, Paul Ohanian, Zhongren Zhou
openalex   +1 more source