Coregulation Analysis of Mechanistic Biomarkers in Autosomal Dominant Polycystic Kidney Disease

by Johannes Leierer, Paul Perco, Benedikt Hofer, Susanne Eder, Alexander Dzien, Julia Kerschbaum, Michael Rudnicki, Gert Mayer
Published 2021-06-01

Dentinogenezis imperfecta tip 2 ile ilgili sıradışı özellikler: ailesi üç kuşaktan fazla etkilenmiş iki olgu

by Shruthi RAO, Shruthi HEGDE, Vidya AJİLA, Subhas BABU, Ananya MADİYAL, Sajad Ahmed BUCH
Published 2017-03-01

Childhood‐onset cerebellar ataxia in Japan: A questionnaire‐based survey

by Hiroya Ono, Yuko Shimizu‐Motohashi, Kazushi Maruo, Eri Takeshita, Akihiko Ishiyama, Takashi Saito, Hirofumi Komaki, Eiji Nakagawa, Masayuki Sasaki
Published 2019-10-01

Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease

by Dechao Xu, Yiyi Ma, Xiangchen Gu, Rongrong Bian, Yunhui Lu, Xiaohong Xing, Changlin Mei
Published 2018-03-01

Dentinogenesis Imperfecta : A Family which was Affected for Over Three Generations

by Poornima Surendra, Rohan Shah, Roshan N.M., V.V. Subba Reddy
Published 2013-08-01

The Effect of Autosomal Dominant Polycystic Kidney Disease on Spirometric Parameters

by Tuba Elif Özler, Faruk Karandere, Egemen Cebeci, Meltem Gürsu, Barış Döner, Abdullah Şumnu, Mustafa Sarı, Gülfidan Çakmak, Zeynep Karaali, Savaş Öztürk
Published 2020-10-01

Recurrent Ulcerations in an 84-Year-Old Male Diagnosed with Hailey-Hailey Disease

by Fahad Al Qooz, Mohammed Almuharraqi, Sajjad Salam, Veena Nagaraj, Abdullah Darwish
Published 2020-11-01

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

by Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer
Published 2020-09-01

Autosomal Dominant Partial Epilepsies

by J Gordon Millichap
Published 2000-07-01

Dietary Care for ADPKD Patients: Current Status and Future Directions

by Sol Carriazo, Maria Vanessa Perez-Gomez, Adrian Cordido, Miguel Angel García-González, Ana Belen Sanz, Alberto Ortiz, Maria Dolores Sanchez-Niño
Published 2019-07-01

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

by Christine Gast, Anthony Marinaki, Monica Arenas-Hernandez, Sara Campbell, Eleanor G. Seaby, Reuben J. Pengelly, Daniel P. Gale, Thomas M. Connor, David J. Bunyan, Kateřina Hodaňová, Martina Živná, Stanislav Kmoch, Sarah Ennis, G. Venkat-Raman
Published 2018-10-01

Evolution of metabolic syndrome components in patients with autosomal-dominant polycystic kidney disease: a six-year follow-up study

by Maria Pietrzak-Nowacka, Krzysztof Safranow, Małgorzata Marchelek-Myśliwiec, Mariusz Bodnar, Sylwia Przysiecka, Monika Nowosiad-Magda, Kazimierz Ciechanowski
Published 2019-11-01

Long-Term Effects of High-Dose Tolvaptan for Autosomal Dominant Polycystic Kidney Disease Patients

by Shinya Nakatani, Eiji Ishimura, Yuri Machiba, Kenta Fujimoto, Hideki Uedono, Akihiro Tsuda, Katsuhito Mori, Masanori Emoto, Masaaki Inaba
Published 2020-02-01

Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease

by Fatemeh Khadangi, Adam Torkamanzehi, Mohammad Amin Kerachian
Published 2020-09-01

Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

by Hong-Yang Wang, Ya-Li Zhao, Qiong Liu, Hu Yuan, Yun Gao, Lan Lan, Lan Yu, Da-Yong Wang, Jing Guan, Qiu-Ju Wang
Published 2015-01-01

Acute intermittent porphyria

by Arvind Kumar, Srinivas, Sravan Kumar
Published 2015-04-01

Huge polycystic kidney weighing 6.24 kg

by Niket Kantilal Shah
Published 2018-01-01

PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data

by Mona Entezam, Mohammad Reza Khatami, Fereshteh Saddadi, Mohsen Ayati, Jamshid Roozbeh, Mohammad Keramatipour
Published 2016-06-01

Endocannabinoid System in Spinocerebellar Ataxia Type-3 and Other Autosomal-Dominant Cerebellar Ataxias: Potential Role in Pathogenesis and Expected Relevance as Neuroprotective Ta...

by María Gómez-Ruiz, María Gómez-Ruiz, María Gómez-Ruiz, María Gómez-Ruiz, Carmen Rodríguez-Cueto, Carmen Rodríguez-Cueto, Carmen Rodríguez-Cueto, Eva Luna-Piñel, Eva Luna-Piñel, Eva Luna-Piñel, Eva Luna-Piñel, Mariluz Hernández-Gálvez, Mariluz Hernández-Gálvez, Mariluz Hernández-Gálvez, Mariluz Hernández-Gálvez, Javier Fernández-Ruiz, Javier Fernández-Ruiz, Javier Fernández-Ruiz
Published 2019-04-01

Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

by Baoheng Gui, Baoheng Gui, Jesse Slone, Taosheng Huang
Published 2017-11-01