Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 30 Records) |
| Query Trace: Disease and PKHD1[original query] |
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| Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD). Journal of medical genetics 2005 Oct 42 (10): e63. Bergmann C, Küpper F, Schmitt C P, Vester U, Neuhaus T J, Senderek J, Zerres |
| Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas. Human molecular genetics 2005 1 14 (5): 603-14. Rebouissou Sandra, Vasiliu Viorel, Thomas Cristel, Bellanné-Chantelot Christine, Bui Hung, Chrétien Yves, Timsit José, Rosty Christophe, Laurent-Puig Pierre, Chauveau Dominique, Zucman-Rossi Jessi |
| Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Kidney international 2010 Feb 77 (4): 350-8. Denamur Erick, Delezoide Anne-Lise, Alberti Corinne, Bourillon Agnès, Gubler Marie-Claire, Bouvier Raymonde, Pascaud Olivier, Elion Jacques, Grandchamp Bernard, Michel-Calemard Laurence, Missy Pascale, Zaccaria Isabelle, Le Nagard Hervé, Gerard Bénédicte, Loirat Chantal, , Barbet J, Beaufrère A M, Berchel C, Bessières B, Boudjemaa S, Buenerd A, Carles D, Clemenson A, Dechelotte P, Devisme L, Dijoud F, Espérandieu O, Fallet C, Gonzalès M, Hillion Y, Jacob B, Joubert M, Kermanach P, Lallemand A, Laquerrière A, Laurent N, Liprandi A, Loeuillet L, Loget P, Martinovic J, Ménez F, Narcy F, Roux J J, Rouleau-Dubois C, Sinico M, Tantau J, Wann A |
| Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clinical journal of the American Society of Nephrology : CJASN 2010 Jun 5 (6): 972-84. Gunay-Aygun Meral, Font-Montgomery Esperanza, Lukose Linda, Tuchman Maya, Graf Jennifer, Bryant Joy C, Kleta Robert, Garcia Angelica, Edwards Hailey, Piwnica-Worms Katie, Adams David, Bernardini Isa, Fischer Roxanne E, Krasnewich Donna, Oden Neal, Ling Alex, Quezado Zenaide, Zak Colleen, Daryanani Kailash T, Turkbey Baris, Choyke Peter, Guay-Woodford Lisa M, Gahl William |
| Germline PKHD1 mutations are protective against colorectal cancer. Human genetics 2011 Mar 129 (3): 345-9. Ward Christopher J, Wu Yanhong, Johnson Ruth A, Woollard John R, Bergstralh Eric J, Cicek Mine S, Bakeberg Jason, Rossetti Sandro, Heyer Christina M, Petersen Gloria M, Lindor Noralene M, Thibodeau Stephen N, Harris Peter C, Torres Vicente E, Hogan Marie C, Boardman Lisa |
| Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease. Pediatric nephrology (Berlin, Germany) 2014 Feb 29 (2): 223-34. Krall Paola, Pineda Cristina, Ruiz Patricia, Ejarque Laia, Vendrell Teresa, Camacho Juan Antonio, Mendizábal Santiago, Oliver Artur, Ballarín José, Torra Roser, Ars Elisab |
| Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease. BMC medical genetics 2015 16 (1): 116. Obeidova Lena, Seeman Tomas, Elisakova Veronika, Reiterova Jana, Puchmajerova Alena, Stekrova Jit |
| Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. Journal of human genetics 2016 May . Melchionda Salvatore, Palladino Teresa, Castellana Stefano, Giordano Mario, Benetti Elisa, De Bonis Patrizia, Zelante Leopoldo, Bisceglia Lui |
| [PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): Genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling]. Nephrologie & therapeutique 2018 Nov 14 (6): 474-477. Hamo Suzy, Bacchetta Justine, Bertholet-Thomas Aurélia, Ranchin Bruno, Cochat Pierre, Michel-Calemard Lauren |
| Exome sequencing of Saudi Arabian patients with ADPKD. Renal failure 2019 9 41 (1): 842-849. Al-Muhanna Fahad A, Al-Rubaish Abdullah M, Vatte Chittibabu, Mohiuddin Shamim Shaikh, Cyrus Cyril, Ahmad Arafat, Shakil Akhtar Mohammed, Albezra Mohammad Ahmad, Alali Rudaynah A, Almuhanna Afnan F, Huang Kai, Wang Lusheng, Al-Kuwaiti Feras, Elsalamouni Tamer S Ahmed, Al Hwiesh Abdullah, Huang Xiaoyan, Keating Brendan, Li Jiankang, Lanktree Matthew B, Al-Ali Amein |
| Exploratory biomarker analysis from a phase II clinical trial of eribulin plus gemcitabine versus paclitaxel plus gemcitabine for HER2-negative metastatic breast cancer patients (KCSG BR13-11). Breast cancer research and treatment 2019 8 178 (2): 367-377. Kim Ji-Yeon, Lee Eunjin, Park Kyunghee, Im Seock-Ah, Sohn Joohyuk, Lee Keun Seok, Chae Yee Soo, Kim Jee Hyun, Kim Tae-Yong, Jung Kyung Hae, Park Yeon Hee, |
| Comprehensive Analysis of Somatic Mutations in Colorectal Cancer With Peritoneal Metastasis. In vivo (Athens, Greece) 0 33 (2): 447-452. Lee Ju-Hee, Ahn Byung Kyu, Baik Seung Sam, Lee Kang Ho |
| Living donor liver transplantation for congenital hepatic fibrosis in children. Pathology international 2020 3 70 (6): 348-354. Irie Rie, Nakazawa Atsuko, Sakamoto Seisuke, Takeda Masahiro, Yanagi Yusuke, Shimizu Seiichi, Uchida Hajime, Fukuda Akinari, Miyazaki Osamu, Nosaka Syunsuke, Kasahara Mur |
| Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease. Genetics in medicine : official journal of the American College of Medical Genetics 2020 11 23 (4): 689-697. Durkie Miranda, Chong Jiehan, Valluru Manoj K, Harris Peter C, Ong Albert C |
| Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants. Kidney international 2021 5 100 (3): 650-659. Burgmaier Kathrin, Brinker Leonie, Erger Florian, Beck Bodo B, Benz Marcus R, Bergmann Carsten, Boyer Olivia, Collard Laure, Dafinger Claudia, Fila Marc, Kowalewska Claudia, Lange-Sperandio Bärbel, Massella Laura, Mastrangelo Antonio, Mekahli Djalila, Miklaszewska Monika, Ortiz-Bruechle Nadina, Patzer Ludwig, Prikhodina Larisa, Ranchin Bruno, Ranguelov Nadejda, Schild Raphael, Seeman Tomas, Sever Lale, Sikora Przemyslaw, Szczepanska Maria, Teixeira Ana, Thumfart Julia, Uetz Barbara, Weber Lutz Thorsten, Wühl Elke, Zerres Klaus, , , Dötsch Jörg, Schaefer Franz, Liebau Max Christoph, |
| Identification of PKHD1 mutations in Brain, Breast and Rectal tumors by Next Generation DNA Sequencing. The Gulf journal of oncology 2021 3 1 (35): 42-53. Mohammed Almehmadi Duaa, Saleh Dairi Abdulrhman, Ali Hassan Amal, Dannoun Anas, Saleh Banni Hussain, M Melibary Ehab, Youssef Abdel-Rahman, M Taher Mohiudd |
| Association of a novel PKHD1 mutation in a family with autosomal dominant polycystic liver disease. Annals of translational medicine 2021 2 9 (2): 120. Wang Jiaru, Yang Huayu, Guo Ruohan, Sang Xinting, Mao Yil |
| PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan. NPJ genomic medicine 2022 Jul 7 (1): 40. Yu Chih-Chuan, Lee An-Fu, Kohl Stefen, Lin Ming-Yen, Cheng Siao Muk, Hung Chi-Chih, Chang Jer-Ming, Chiu Yi-Wen, Hwang Shang-Jyh, Otto Edgar A, Hildebrandt Friedhelm, , Hwang Daw-Ya |
| Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease. JAMA 2022 12 328 (24): 2412-2421. Chang Alexander R, Moore Bryn S, Luo Jonathan Z, Sartori Gino, Fang Brian, Jacobs Steven, Abdalla Yoosif, Taher Mohammed, Carey David J, Triffo William J, Singh Gurmukteshwar, Mirshahi Toor |
| Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. American journal of medical genetics. Part A 2022 Sep . Kumar Runjun D, Meng Linyan, Liu Pengfei, Miyake Christina Y, Worley Kim C, Bi Weimin, Lalani Seema |
| Whole-Exome Sequencing Revealed the Mutational Profiles of Primary Central Nervous System Lymphoma. Clinical lymphoma, myeloma & leukemia 2023 2 . Zhang Rui, Wei Boyuan, Hu Yiyang, Lv Wenying, Adilai Abudurexiti, Yang Fan, Zhang Jianning, Cheng Ga |
| Genomic profiling of tissue and blood predicts survival outcomes in patients with resected pleural mesothelioma. European journal of cancer (Oxford, England : 1990) 2023 11 196 113457. Diego de Miguel-Perez, Edward M Pickering, Umberto Malapelle, William Grier, Francesco Pepe, Pasquale Pisapia, Gianluca Russo, Joseph A Pinto, Alessandro Russo, Giancarlo Troncone, Melissa J Culligan, Katherine A Scilla, Ranee Mehra, Pranshu Mohindra, Oscar Arrieta, Andres F Cardona, Marzia Del Re, Ashutosh Sachdeva, Fred R Hirsch, Andrea Wolf, Joseph S Friedberg, Christian Rol |
| The genetic spectrum of polycystic kidney disease in children. Revista da Associacao Medica Brasileira (1992) 2023 11 69 (11): e20230334. Ayca Kocaaga, Yesim Özdemir Atikel, Mehtap Sak, Taner Karaka |
| The Clinical and Mutational Spectrum of 69 Turkish Children with Autosomal Recessive or Autosomal Dominant Polycystic Kidney Disease: A Multicenter Retrospective Cohort Study. Nephron 2023 1 1-14. Tutal Ozum, Gulhan Bora, Atayar Emine, Yuksel Selcuk, Ozcakar Z Birsin, Soylemezoglu Oguz, Saygili Seha, Caliskan Salim, Inozu Mihriban, Baskin Esra, Duzova Ali, Hayran Mutlu, Topaloglu Rezan, Ozaltin Fat |
| Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing. The Journal of clinical investigation 2024 8 . Omid Sadeghi-Alavijeh, Melanie My Chan, Gabriel T Doctor, Catalin D Voinescu, Alexander Stuckey, Athanasios Kousathanas, Alexander T Ho, Horia C Stanescu, Detlef Bockenhauer, Richard N Sandford, Adam P Levine, Daniel P Ga |
| Pathogenic relationship between phenotypes of ARPKD and novel compound heterozygous mutations of PKHD1. Frontiers in genetics 2024 7 15 1429336. Xinrong Zhang, Jiebin Wu, Jianteng Zhou, Jie Liang, Yu Han, Yunmeng Qi, Tao Zhu, Dejian Yuan, Zuobin Zhu, Jingfang Zh |
| Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes. Gene 2024 6 148625. Mayssa Abdelwahed, Valerie Benoit, Bayen Maalej, Pascale Hilbert, Laurence Michel Calemard, Hassen Kamoun, Leila Ammar-Keskes, Neila Belgui |
| AIRE mutation in an elderly Caroli's patient with cholangitis and sepsis: a case report. Journal of medical case reports 2024 12 18 (1): 628. Yan Yan, Juanjuan Fu, Lilin Jiang, Zhonghua Lu, Renfang Ch |
| Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method. Turkish journal of medical sciences 2024 10 54 (5): 1135-1146. Yüksel Gezgin, Berkay Kirnaz, Rauf Baylarov, Afig Berde |
| The evaluation of targeted exome sequencing of candidate genes in a Han Chinese population with primary open-angle glaucoma. Human molecular genetics 2025 1 . Yiwen Zhou, Youjia Zhang, Qingdan Xu, Xinghuai Sun, Yuhong Ch |
- Page last reviewed:Feb 1, 2024
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