Results 101 to 110 of about 6,036 (217)

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

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  

N-glükosüülimise kaasasündinud defektid: kirjanduse ülevaade ja haigusjuhu kirjeldus [PDF]

, 2014
Glükosüülimise kaasasündinud defektid on kiiresti kasvav, erinevaid elundisüsteeme haarav ainevahetushaiguste rühm. Glükosüülimine on valkude modifitseerimise protsess, mille tulemusel sünteesitakse glükoproteiin.
Joost, Kairit, Maipuu, Lea, Vals, Mari-Anne, Õunap, Katrin   +3 more
core   +2 more sources

CUTIS LAXA [PDF]

Medical Journal Armed Forces India, 1998
KM SHAH, PLK DE SYLVA
openaire   +2 more sources

Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome [PDF]

, 2015
BACKGROUND: Skin malformations that resembled manifestations of Ehlers-Danlos-Syndrome were described in a variety of domestic animals during the last century as cutis hyperelastica, hyperelastosis cutis, dermatosparaxis, dermal/collagen dysplasia ...
Bleul, Ulrich, de Brot, Simone, Jackson, Michelle, Monthoux, Chloé, Walter, Jasmin   +4 more
core   +3 more sources

Neck Localized Cutis Laxa

Journal of Experimental and Clinical Medicine, 2011
ABSTRACT Cutis laxa is an uncommon disorder characterized clinically laxitiy of the skin, which hangs in loose folds, by the loss of dermal elastic tissue. We report a case only neck localized of cutis laxa that no systemic involvement was diagnosed. The skin laxity was preceded by episodes of itching and swelling on her neck. When the patient applied
TUNCEL, Umut, TURAN, Aydın, MARKOÇ, Fatma, KOSTAKOĞLU, Naci   +3 more
openaire   +4 more sources

Congenital Cutis laxa: Two pediatric cases [PDF]

, 2022
Ghita Hachim, Yamna kriouel, Asmae Alaoui Mdaghri   +2 more
openalex   +1 more source

Near-fatal presentation of bilateral pneumothorax in cutis laxa patient: Case report, and review of the literature

Annals of Thoracic Medicine, 2018
Cutis laxa (CL) is a rare connective tissue disease characterized by a loose, wrinkled, and inelastic skin. Here, we report an unusual presentation in a 15-year-old male patient who is a known patient of CL who presented with bilateral pneumothorax.
Waseem M Hajjar, Areej S Alrajeh, Lulwah S Alturki, Sami A Al-Nassar, Adnan W Hajjar   +4 more
doaj   +1 more source

Congenital cutis laxa [PDF]

Indian Pediatrics, 2012
Manish, Kumar, Raghvendra, Singh
openaire   +2 more sources

Acquired cephalic cutis laxa

Dermatology Online Journal, 2007
Author(s): Jr, Hiram Larangeira de Almeida; Rocha, Marcelo Passos da; Neugebauer, Samuel; Wolter, Manfred; Rocha, Nara ...
Jr, Hiram Larangeira de Almeida, Rocha, Marcelo Passos da, Neugebauer, Samuel, Wolter, Manfred, Rocha, Nara Moreira   +4 more
openaire   +4 more sources