Results 261 to 270 of about 1,639,589 (408)

Autosomal Dominant Polycystic Kidney Disease

Saudi Journal of Kidney Diseases and Transplantation, 1999
Schwenger Vedat, Zeier Martin
doaj  

Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and Leukoencephalopathy. [PDF]

Eur J Neurol
Hu F, Xie W, Fan M, Wang Y, Xu S, Qiu W, Yang T, Lv H, Huang H, Wu Y, Fu Y, Cai B.   +11 more
europepmc   +1 more source

Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease

Journal of Clinical Immunology, 2016
T. Vece, L. Watkin, S. Nicholas, D. Canter, M. Braun, R. P. Guillerman, K. Eldin, Grant Bertolet, S. McKinley, M. Guzman, L. Forbes, Ivan K. Chinn, J. Orange   +12 more
semanticscholar   +1 more source

Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain.

, 1993
Ching‐Hwa Sung, Carol Davenport, Jeremy Nathans   +2 more
openalex   +1 more source

Genital Crohn's disease in pediatrics and genetic associations

JPGN Reports, EarlyView.
Abstract Genital edema is a rare presentation of Crohn's disease (CD), also known as metastatic CD (MCD). This may precede, co‐occur with, or follow gastrointestinal symptoms and present a diagnostic challenge. We aimed to characterize the features, clinical courses, pathogenesis, and outcomes of patients with MCD to increase understanding and promote ...
Erica Chang, Caroline Chinchilla Putzeys, Edward Hoffenberg, Ashish Patel, Elizabeth Hilow, Brad Pasternak   +5 more
wiley   +1 more source

Alagille syndrome- A rare autosomal dominant disorder [PDF]

Al Ameen Journal of Medical Sciences, 2018
Rizwan-U-Zama, Nazeer Ahmad Jeergal, Naushad Ali N. Malagi, Ravindra G. Naganoor, Syeda Umme Uzra Kaleem   +4 more
doaj  

Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency. [PDF]

Hum Mutat
Krag T, Nasho E, Brady L, Verebi C, Leturcq F, Malfatti E, Duno M, Tarnopolsky M, Vissing J.   +8 more
europepmc   +1 more source

Reliability of radiomic analysis on multiparametric MRI for patients affected by autosomal dominant polycystic kidney disease. [PDF]

Sci Rep
Lussana F, Lanzarone E, Villa G, Mastropietro A, Caroli A, Scalco E.   +5 more
europepmc   +1 more source

Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa. [PDF]

, 1994
John J. Wroblewski, John A. Wells, Anja Eckstein, Fred W. Fitzke, C Jubb, T J Keen, C.F. Inglehearn, Siladitya Bhattacharya, G. B. Arden, Marcelle Jay   +9 more
openalex   +1 more source

Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort. [PDF]

Clin Exp Nephrol
Tanaka Y, Nagano C, Sakakibara N, Okada E, Aoyama S, Kimura Y, Inoki Y, Ichikawa Y, Ueda C, Kitakado H, Horinouchi T, Yamamura T, Ishimori S, Iijima K, Nozu K, Morisada N.   +15 more
europepmc   +1 more source