Results 161 to 170 of about 5,906 (226)

Biomechanical Properties of the Skin in Cutis Laxa [PDF]

Journal of Investigative Dermatology, 2014
Frank C. Sciurba, Beth A. Kozel, Juliann McConnell, Ryan L. Minster, Joshua R. Danback, Kara L. Levine, Zsolt Urban, Meghan K. Mac Neal, Chi-Ting Su, Suneeta Madan-Khetarpal, Robert C. Wilson   +10 more
openaire   +3 more sources

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

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2. [PDF]

Mol Genet Genomics
Shangguan S, Zhang X, Ge Y, Han Y, Xiao L, Zhang Y, Xie H, Chen X, Wang X.   +8 more
europepmc   +1 more source

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa. [PDF]

Mol Genet Genomic Med, 2021
Cinquina V, Ciaccio C, Venturini M, Masson R, Ritelli M, Colombi M.   +5 more
europepmc   +1 more source

Antwort auf: "Gibt es klare Präferenzen in der Therapie der Hyperthyreose zwischen chemischer Blockade der Hormonsynthese und der Behandlung mit Radiojod?" [PDF]

, 1980
Scriba, Peter Christian
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

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

, 2013
Uitto, Jouni
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

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

, 2013
Vanakker, Olivier
core   +3 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