Results 81 to 90 of about 3,923 (158)

Peningkatan Ketebalan Serat Elastin Dinding Vagina Pada Prolapsus Organ Pelvis Anterior [PDF]

, 2016
Tujuan: Mengukur ketebalan serat elastin pada dinding vagina penderita POP anterior dan menganalisis korelasi antara ketebalan serat elastin dengan derajat POP anterior.Bahan dan Metode: Penelitian ini merupakan penelitian analitik observasional secara ...
K, E. M. (Eighty), Mustokoweni, S. (Sjahjenny), Zaki, A. (Achmad)   +2 more
core   +2 more sources

Congenital cutis laxa syndrome: type II autosomal recessive inheritance

The Turkish Journal of Pediatrics, 2003
Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types.
Beyhan Tüysüz, Müjde Arapoğlu, Barbaros Ilikkan, Cuyan Demirkesen, Yildiz Perk   +4 more
doaj  

Incomplete cleft palate in a child with De Barsy syndrome

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2018
De Barsy syndrome, a rare genetic disorder, is characterized by progeroid features, cutis laxa, ocular abnormalities, growth retardation, and intellectual disability.
Devi Prasad Mohapatra, Sireesha Reddy Konda, Preethitha Babu   +2 more
doaj   +1 more source

The Dermatan Sulfate Proteoglycan Decorin Modulates α2β1 Integrin and the Vimentin Intermediate Filament System during Collagen Synthesis. [PDF]

, 2012
Decorin, a small leucine-rich proteoglycan harboring a dermatan sulfate chain at its N-terminus, is involved in regulating matrix organization and cell signaling. Loss of the dermatan sulfate of decorin leads to an Ehlers-Danlos syndrome characterized by
Eckes, Beate, Iozzo, Renato V, Jungmann, Oliver, Nikolovska, Katerina, Owens, Rick T, Riethmüller, Christoph, Schulz, Jan-Niklas, Seidler, Daniela G, Stock, Christian   +8 more
core   +4 more sources

D-penicillamine induced degenerative dermopathy

Indian Journal of Dermatology, 2015
D-penicillamine interferes with elastin and collagen metabolism and produces several cutaneous and multi-systemic side-effects. We present two cases of Wilson′s disease who on long-term penicillamine therapy developed drug-induced degenerative dermopathy
Sujay Khandpur, Naresh Jain, Shweta Singla, Priti Chatterjee, Madhuri Behari   +4 more
doaj   +1 more source

Washington University Record, April 28, 2006 [PDF]

, 2006
https://digitalcommons.wustl.edu/record/2071/thumbnail ...

core   +1 more source

De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations [PDF]

, 2015
BACKGROUND: Genomic disorders resulting from deletion or duplication of genomic segments are known to be an important cause of cardiovascular malformations (CVMs).
Austin, E., Azamian, M., Bacino, C., Belmont, J. W., Bi, W., Bohan, T. P., Burrage, L. C., Cheung, S. W., Franklin, A. I. A., James, R. A., Lalani, S. R., Magoulas, P., Melver, C. H. Ward, Patel, A., Probst, F. J., Rosenfeld, J. A., Shaw, C., Ware, S. M., Xia, F.   +18 more
core   +1 more source

Elastólise pós-inflamatória e cutis laxa (doença de James Marshall): estudo de casos Post-inflammatory elastolysis and cutis laxa (James Marshall disease): case study

Anais Brasileiros de Dermatologia, 2007
FUNDAMENTOS: Elastólise pós-inflamatória e cutis laxa são doenças raras, porém só o Estado de Minas Gerais responde por quase um terço dos casos relatados em todo o mundo. Também são escassos os trabalhos com seguimento dos pacientes.
Claudemir Roberto Aguilar, Bernardo Gontijo, Everton Carlos Siviero do Vale   +2 more
doaj   +1 more source

Aspectos clínicos del síndrome de Ehlers-Danlos [PDF]

, 1997
Se realiza una revisión bibliográfica de conjunto de los aspectos clínicos más significativos del síndrome de Ehlers-Danlos. Se recogen datos estadísticos, características raciales, morfotipo e interpretación patogénica actual.
Fernández Fernández, C.I., Fernández Gabarda, Rafael, Rodríguez Collel, J.R.   +2 more
core  

Ischaemic infarct of the brain stem combined with bisymptomatic Klippel-Trenaunay-Weber syndrome and cutis laxa. [PDF]

, 1976
E Alberti
openalex   +1 more source