Results 171 to 180 of about 6,036 (217)

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. [PDF]

Am J Hum Genet, 2020
Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung KCP, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.   +40 more
europepmc   +1 more source

Variants of the ELN gene and susceptibility to intracranial aneurysm: a synthesis of genetic association studies using a genetic model-free approach [PDF]

, 2015
Πατεράκης, Κώστας
core   +1 more source

Overview of the Pulmonary Manifestations in Patients with Autosomal Recessive Cutis Laxa Type IC. [PDF]

Pediatr Allergy Immunol Pulmonol, 2020
Mutlu-Albayrak H, Emiralioğlu N, Damar Ç.   +2 more
europepmc   +1 more source

Penicillamine-Induced Localised Cutis Laxa in a Patient with Wilson Disease: A Case Report. [PDF]

Mediterr J Rheumatol
Routsi E, Kanelleas A, Papaefthymiou V, Pappa G, Katoulis A.   +4 more
europepmc   +1 more source

Emphysema associated with acquired cutis laxa

, 2013
Xuefeng Sun, Yuehua Liu, Yi Xiao, Tao Liu, Xu Zhong   +4 more
openalex   +1 more source

Molecular mechanisms of LTBP4-related cutis laxa [PDF]

, 2014
Chi-Ting Su
openalex  

Acral Acquired Cutis Laxa Associated with IgA Multiple Myeloma, Joint Hyperlaxity and Urticarial Neutrophilic Dermatosis

, 2014
Nicolas Kluger, Jean‐Pierre Molès, Olivier Vanakker, C. Pernet, M. Beylot‐Barry, D. Bessis   +5 more
openalex   +2 more sources

Acquired Cutis Laxa Type 2 (Marshall's Syndrome) Associated with Sweet's Syndrome: A Rare Entity.

Indian J Dermatol
Samal A, Bhoi A, Mohanty J, Mishra C, Basa A, Dash S.   +5 more
europepmc   +1 more source

The Human Mutation K237_V238del in a Putative Lipid Binding Motif within the V-ATPase a2 Isoform Suggests a Molecular Mechanism Underlying Cutis Laxa. [PDF]

Int J Mol Sci
Chu A, Yao Y, Glibowicka M, Deber CM, Manolson MF.   +4 more
europepmc   +1 more source

Cutis laxa with pulmonary artery stenosis

Indian Dermatology Online Journal, 2012
Krina B Patel, Ruchin Patel
doaj   +1 more source