Results 161 to 170 of about 157,517 (293)

Retinoblastoma Plus Lipomatosis: An Autosomal Dominant Syndrome

Archives of Plastic Surgery, 2014
Stefania Tenna, Mauro Barone, Pierluigi Gigliofiorito, Paolo Persichetti   +3 more
doaj   +1 more source

Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing. [PDF]

Mol Genet Genomic Med
Kamps R, Martens H, de Koning B, Smeets B, van Geel M.   +4 more
europepmc   +1 more source

Diverticular disease in the colon in hemodialysis patients due to autosomal dominant polycystic kidney disease

, 1989
Yoshio Suzuki, Hiroyuki Sakurai, Hajime Hasegawa, Takayoshi Yanagisawa, Hirosi Tsuji, Keihachirou Kuzuhara, Shigeko Hara, Y Ogura, O Otsubo, Nobuhide Mimura   +9 more
openalex   +2 more sources

Exclusion of autosomal dominant polycystic kidney disease type II (ADPKD2) from 160 cM of chromosome 1. [PDF]

, 1990
Sushil Kumar, William J. Kimberling, Patricia A. Gabow, Yin Yao Shugart, Sandra Pieke-Dahl   +4 more
openalex   +1 more source

An unusual presentation of pheochromocytoma accompanied by catecholamine‐induced cardiomyopathy

ESC Heart Failure, EarlyView.
Hugh O.J. Roberts, Alexandru Munteanu, Jonas E. Mertens   +2 more
wiley   +1 more source

Differences in gut microbiome between autosomal dominant polycystic kidney disease with and without intracranial aneurysms. [PDF]

Sci Rep
Fukuda T, Takagaki M, Kaimori J, Motooka D, Nakamura S, Kawabata S, Nakamura H, Ozaki T, Nakagawa R, Matsumura T, Teranishi K, Yamazaki H, Isaka Y, Kishima H.   +13 more
europepmc   +1 more source

Brain glucose utilisation in a patient with "athymhormia" from a family with autosomal dominant parkinsonism and psychic disturbances. [PDF]

, 1994
F. Le Doze, Jean‐Claude Baron, Rose Marie, Francis Eustache, B Lechevalier, C Schupp, Jean Marcel Travère, M C Petit-Taboue   +7 more
openalex   +1 more source

Sex differences in the clinical manifestation of autosomal dominant frontotemporal dementia. [PDF]

Alzheimers Dement
Memel M, Staffaroni AM, Ilan-Gala I, Castro JG, Kornak J, Tartaglia CM, Saloner R, VandeBunte AM, Paolillo EW, Cadwallader CJ, Chen C, Gorno-Tempini ML, Mandelli M, Apostolova L, Graff-Radford N, Litvan I, Bayram E, Pressman PS, Miyagawa T, Mackenzie I, Goldman J, Darby RR, Appleby BS, Petrucelli L, Gendron T, Heuer HW, Forseberg LK, Rojas JC, Boeve BF, Brushaber N, Domoto-Reilly K, Ghoshal N, Lapid M, Pascual B, Lee S, Ramos EM, Ramanan V, Rademakers R, Rascovsky K, Pantelyat A, Masdeu JC, Snyder A, Boxer AL, Rosen HJ, Casaletto K, ALLFTD Consortium.   +45 more
europepmc   +1 more source

Calcified Renal Stones and Cyst Calcifications in Autosomal Dominant Polycystic Kidney Disease: Clinical and CT Study in 84 Patients [PDF]

, 1992

openalex   +1 more source

Mitochondrial dysfunction: Related diseases, influencing factors, and detection

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li, Shiyu Li, Wanying Chen, Ziyu Zhang, Chun Pan, Peng Lei, Cheng Cheng, Junyou Zhu, Hanxiao Sun, Zhenning Dai   +9 more
wiley   +1 more source