Results 161 to 170 of about 101,655 (304)

Genetic Disorders Detectable by Fetal MRI: A Review. [PDF]

Diagnostics (Basel)
Wong KC, Chow TH, Cheung C, Chan JPK, Lee JCY, Kan EYL, Chu WCW.   +6 more
europepmc   +1 more source

RENAL DEVELOPMENT AND CYSTIC DISEASES [PDF]

Nephrology Dialysis Transplantation, 2014
C. Cabrera-Lopez, E. Ars, T. Marti, P. C. Harris, R. Torra, C. Clerckx, T. Migeon, Z. Chen, P. Ronco, E. Plaisier, I. J. Lamers, J. Van Reeuwijk, M. Azam, K. Boldt, M. Maria, L. Koster-Kamphuis, R. Qamar, M. Ueffing, F. P. Cremers, R. Roepman, H. H. Arts, S. Papizh, V. Dlin, I. Leontieva, K. Tutelman, R. D. Perrone, K. T. Bae, A. B. Chapman, O. Devuyst, R. T. Gansevoort, J. J. Grantham, E. Higashihara, V. E. Torres, O. Sergeyeva, W. Zhou, J. D. Blais, F. S. Czerwiec, F. Liu, Y. Liao, P. Fu, N. Casteleijn, D. Zittema, S. Bakker, W. Boertien, C. Gaillard, E. Meijer, E. Spithoven, J. Struck, R. Gansevoort, P. Robinson, P. McEwan, H. Hadimeri, A. C. M. Ong, B. Orskov, R. Peces, R. Sandford, F. Scolari, G. Walz, C. Cooke, K. O'Reilly, M. Riwanto, S. Kapoor, D. Rodriguez, I. Edenhofer, S. Segerer, R. P. Wuthrich, S. De Rechter, J. Bacchetta, M. Van Dyck, P. Evenepoel, J. De Schepper, E. Levtchenko, D. Mekahli, A. Carr, A. Makin, A. Baker, L. Obeidova, J. Stekrova, T. Seeman, A. Puchmajerova, J. Reiterova, M. Kohoutova, V. Tesar, S. Treille, J.-M. Bailly, B. Guillaume, L. Tuta, A. Stanigut, F. Botea, H. A. Jo, H. C. Park, H. Kim, M. Han, H. Huh, J. C. Jeong, K.-H. Oh, J. Yang, T. Y. Koo, Y.-H. Hwang, C. Ahn, A. Pisani, G. Remuzzi, P. Ruggenenti, E. Riccio, B. Visciano, L. Spinelli, J. I. Kim, K. M. Park, F. X. Liu, P. Rutherford, K. Smoyer-Tomic, V. Martinez Jimenez, J. Comas, E. Arcos, J. M. Diaz, S. Muray, J. Cabezuelo, J. Ballarin, E. Ars, R. Torra, T. Miyaoka, S. Morimoto, H. Kataoka, T. Mochizuki, K. Tsuchiya, A. Ichihara, K. Nitta   +126 more
openaire   +2 more sources

Ultrasound-assisted diagnosis and ultrasound-guided radiofrequency ablation of renal cell carcinoma in a patient with autosomal dominant polycystic kidney disease: a case report with two-year follow-up. [PDF]

BMC Nephrol
Yu X, Liu R, Sun Z, Wang L, Ma J, Wang S, Liu X, Zhang B.   +7 more
europepmc   +1 more source

Malignant craniopharyngiomas: Institutional experience and literature review

Brain Pathology, EarlyView.
We report the second case of malignant craniopharyngioma with BAP1 and TP53 mutations. A literature review identified 44 cases of malignant craniopharyngiomas with a median overall survival of 6 months. Eighteen (41%) occurred in patients without any history of radiation, suggesting that mechanisms other than radiation have contributed to their ...
Thomas J. Auen, Isabella W. Zhang, Weiwei Zhang, Jordan M. Burr, Matthew L. Carda, James L. Wisecarver, Nicole Shonka, Jesse L. Cox, Sahara J. Cathcart, Allison Cushman‐Vokoun, Jie Chen   +10 more
wiley   +1 more source

A case of giant renal angiomyolipoma and diabetic nephropathy with abnormalities in the genes TSC2 and HNF1B. [PDF]

CEN Case Rep
Sugimoto H, Sawa N, Oba Y, Mizuno H, Sekine A, Yamanouchi M, Tanaka K, Hasegawa E, Suwabe T, Wada T, Yokoyama T, Miki K, Nakamura Y, Ishii Y, Kono K, Ohashi K, Takazawa Y, Fujimaru T, Mori T, Sohara E, Ubara Y.   +20 more
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source

Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study. [PDF]

Clin J Am Soc Nephrol
Bozkurt EG, Sheikh Najeeb M, Yang H, Kemppainen JL, Smith BH, Gregory AV, Baker TA, Thompson WS, Khalifa M, Cruz C, Kouri AM, Tran CL, Sas DJ, Cramer CH, Dahl NK, Kline TL, Torres VE, Chebib FT, Harris PC, Hanna C.   +19 more
europepmc   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

LAMCAK pilot study: urinary cathepsin K as a potential biomarker in lymphangioleiomyomatosis. [PDF]

ERJ Open Res
Pronost M, Vanderlynden L, Lecaille F, Flament T, Lalmanach G, Marchand-Adam S.   +5 more
europepmc   +1 more source

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, EarlyView.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source