Results 81 to 90 of about 5,131 (208)

Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites [PDF]

, 2011
Background Some single nucleotide polymorphisms (SNPs) are known to modify the risk of developing certain diseases or the reaction to drugs. Due to next generation sequencing methods the number of known human SNPs has grown. Not all SNPs lead
Kirsten Faber, Karl-Heinz Glatting, Phillip J Mueller, Angela Risch, Agnes Hotz-Wagenblatt   +4 more
core   +1 more source

Design and analysis of a GaN-based 2D photonic crystal biosensor integrated with machine learning techniques for detection of skin diseases

Scientific Reports
Photonic crystals are prevalent in the detection of assorted diseases and malignancies such as vitiligo and cutis laxa. A 2D photonic crystal utilizing GaN is demonstrated to detect skin diseases, highlighting its substantial relevance to the photonic ...
Harikrishnan N, Sangeetha A
doaj   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Cutis Laxa syndrome: a case report

The Pan African Medical Journal, 2015
Cutis laxa (CL) is a heterogeneous group of inherited and acquired connective tissue disorders characterized by a loose skin and variable systemic involvement (inguinal hernia, cardiopulmonary disease, and emphysema).
Mohamed Hbibi, Sana Abourazzak, Mounia Idrissi, Sana Chaouki, Samir Atmani, Moustapha Hida   +5 more
doaj   +1 more source

Extra-renal locations of the a4 subunit of H+ATPase [PDF]

, 2016
Background Vacuolar-type proton pumps help maintain acid–base homeostasis either within intracellular compartments or at specialised plasma membranes. In mammals they are made up of 13 subunits, which form two functional domains. A number
Golder, Zoe J, Karet Frankl, Fiona E
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

Classic features of primary systemic amyloidosis (AL amyloidosis) leading to diagnosis of plasma cell myeloma [PDF]

, 2019
The diagnosis of primary systemic amyloidosis, also known as AL (amyloid light-chain) amyloidosis, is often delayed owing to its nonspecific manifestations as well as its rarity.
Behrens, Emily, Tan, Kendra W, Tarbox, Michelle B, Zhu, Brian   +3 more
core  

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

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