Results 161 to 170 of about 5,571 (225)

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

, 2019
Е. Г. Окунева, Anastasiya Aleksandrovna Kozina, Н. В. Барышникова, Anna Krasnenko, Kirill Tsukanov, Olesya I. Klimchuk, Ekaterina Ivanovna Surkova, Valery Ilinsky   +7 more
openalex   +1 more source

Genodermatoses: Differential diagnosis of cutaneous elastin disorders: Cutis Laxa vs. pseudoxanthoma elasticum [PDF]

, 2013
Uitto, Jouni
core   +1 more source

Common polymorphisms of Fibulin-5 and the risk of abdominal aortic aneurysm development [PDF]

, 2010
Badger, Stephen A., Hughes, Anne E., Makar, Ragai R., O'Donnell, Mark E., Sharif, Mohammed A., Soong, Chee V.   +5 more
core   +1 more source

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

Coordinated orphan disease research : yes, we can! [PDF]

, 2013
Vanakker, Olivier
core   +3 more sources

Granulomatous slack skin. Report of three patients with an updated review of the literature [PDF]

, 1998
Dongen, J.J.M. (Jacques) van, Haselen, C.W. (Christian) van, Hees, C.L.M. (Colette) van, Putte, S.J.C. (S. J C) van der, Toonstra, J. (Johan), Vloten, W.A. (Willem) van   +5 more
core   +2 more sources

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

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

GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype. [PDF]

Br J Dermatol, 2021
Li D, Ryu E, Saeidian AH, Youssefian L, Oliphant E, Terry SF, Tong PL, Uitto J, Haass NK, Li Q.   +9 more
europepmc   +1 more source

The dominant and recessive forms of cutis laxa. [PDF]

, 1972
Peter Beighton
openalex   +1 more source