Results 121 to 130 of about 2,841 (190)

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

Ultrastructural Demonstration of a Relationship between Acquired Cutis Laxa and Monoclonal Gammopathy

, 2010
L. Machet, A. Maruani, Brigitte Arbeille, M.-C. Machet, Christelle Barbet, B. Laure, Lucía Martín   +6 more
openalex   +2 more sources

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

Ritidoplastia em paciente de 11 anos como tratamento auxiliar da elastólise pós-inflamatória (cutis laxa) - desafios no tratamento

, 2013
Wellerson Marcos Mattioli, Fausto Viterbo, Emiliano Sá Fortes de Araújo, Priscilla Rocha Pinho   +3 more
openalex   +1 more source

Cutis laxa with hernias

, 2013
Jan Gerstenmaier
openalex   +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

Autosomal Recessive Cutis Laxa 1C Mutations Disrupt the Structure and Interactions of Latent TGFβ Binding Protein-4. [PDF]

Front Genet, 2021
Alanazi YF, Lockhart-Cairns MP, Cain SA, Jowitt TA, Weiss AS, Baldock C.   +5 more
europepmc   +1 more source

Modeling autosomal recessive cutis laxa type 1C (ARCL1C) in mice reveals distinct functions of Ltbp-4 isoforms

, 2015
Insa Bultmann-Mellin, Anne Conradi, Alexandra C. Maul, Katharina Dinger, Frank Wempe, Alexander P. Wohl, Thomas Imhof, F. Thomas Wunderlich, Alexander C. Bunck, Tomoyuki Nakamura, Katri Koli, Wilhelm Bloch, Alexander Ghanem, Andrea Heinz, Harald von Melchner, Gerhard Sengle, Anja Sterner‐Kock   +16 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

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