Results 131 to 140 of about 5,131 (208)

Genodermatoses [PDF]

, 2013
Uitto, Jouni
core   +2 more sources

Abnormal von Willebrand factor multimer pattern without <i>VWF</i> variants in autosomal-recessive cutis laxa type IIA. [PDF]

Blood Vessel Thromb Hemost
Jacobs JW, Bibb LA, Syed N, Demet R, Booth GS, Gailani D.   +5 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

Autosomal Recessive Cutis Laxa Type 1C with LTBP4 Mutation: Unmasking an Exceptional Case in the Indian Subcontinent. [PDF]

Indian Dermatol Online J
Senapati D, Mendiratta V, Callewaert B, Agarwal K, Osama MA, Beyens A, Symoens S.   +6 more
europepmc   +1 more source

New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa. [PDF]

Orphanet J Rare Dis, 2021
Gharesouran J, Hosseinzadeh H, Ghafouri-Fard S, Jabbari Moghadam Y, Ahmadian Heris J, Jafari-Rouhi AH, Taheri M, Rezazadeh M.   +7 more
europepmc   +1 more source

Classical complement activation in light and heavy chain deposition disease with acquired cutis laxa and bronchiolitis obliterans: a case report of monoclonal gammopathy of clinical significance. [PDF]

Front Immunol
Chen Y, Fan Y, Yang S, Cui H, Ye W, Ye W, Wen Y, Zhuang J, Wang P, Ma D, Fang K, Xia P, Chen L, Li H, Li C.   +14 more
europepmc   +1 more source

Neutrophil Extracellular Traps as a Possible Pathomechanism of Generalized Acquired Cutis Laxa Associated with IgA-lamda Monoclonal Gammopathy of Undetermined Significance. [PDF]

Acta Derm Venereol, 2021
Terui H, Yamasaki K, Tamabuchi E, Tsuchiyama K, Aiba S.   +4 more
europepmc   +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

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations. [PDF]

Genes (Basel), 2021
Verlee M, Beyens A, Gezdirici A, Gulec EY, Pottie L, De Feyter S, Vanhooydonck M, Tapaneeyaphan P, Symoens S, Callewaert B.   +9 more
europepmc   +1 more source

An unusual presentation of anetoderma: a case report [PDF]

Shahin Aghaei, Manouchehr Sodaifi, Fatemeh Sari Aslani, Nazila Mazharinia, JL Burton, PY Venencie, PY Venencie, SE Cockayne, L Indianer, EA Stephansson, E Hodak, SJ Friedman, A Peterman, TL Prizant, P Disdier, Rw Goltz, P Viksnins, PG Lewis, RI Rudolph, O Stanton, J Thivolet, SE Kelly, CC Jones, Hirschel-Scholz, C Jubert, R Tatnall, KA Gebauer, MP Olive, Ş Özkan, MS Daoud, JE Herrero-Gonzalez, BS Shames, EA Stephansson, C Ryll-Nardzewski, L Schnitzler, MM De Bracco, EH Page, W Davis, CC Alvarez-Cuesta, I Zaki, LM Bechelli, PY Venencie, S Ghomrasseni, TL Prizant, F Reiss, R Ruiz-Rodriguez   +45 more
core   +1 more source