Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 42 Records) |
Query Trace: PKHD1[original query] |
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Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma. 3 Biotech 2017 3 5 (5): 685-696. Rawal Rakesh M, Joshi Madhvi N, Bhargava Poonam, Shaikh Inayat, Pandit Aanal S, Patel Riddhi P, Patel Shanaya, Kothari Kiran, Shah Manoj, Saxena Akshay, Bagatharia Snehal |
[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 |
Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations. Veterinary pathology 2018 2 55 (3): 457-461. Molín Jéssica, Asín Javier, Vitoria Arantzazu, Sanz Arianne, Gimeno Marina, Romero Antonio, Sánchez Javier, Pinczowski Pedro, Vázquez Francisco J, Rodellar Clementina, Luján Llu |
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 |
Expanded analysis of secondary germline findings from matched tumor/normal sequencing identifies additional clinically significant mutations. JCO precision oncology 2019 9 3 . Dumbrava E Ileana, Brusco L, Daniels M, Wathoo C, Shaw K, Lu K, Zheng X, Strong L, Litton J, Arun B, Eterovic A K, Routbort M, Patel K, Qi Yuan, Piha-Paul S, Subbiah V, Hong D, Rodon J, Kopetz S, Mendelsohn J, Mills G B, Chen K, Meric-Bernstam |
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, |
Associations Between Loss of ARID1A Expression and Clinicopathologic and Genetic Variables in T1 Early Colorectal Cancer. American journal of clinical pathology 2019 Jul . Kishida Yoshihiro, Oishi Takuma, Sugino Takashi, Shiomi Akio, Urakami Kenichi, Kusuhara Masatoshi, Yamaguchi Ken, Kitagawa Yuko, Ono Hiroyu |
Exome sequencing in 51 early onset non-familial CRC cases. Molecular genetics & genomic medicine 2019 2 7 (5): e605. Thutkawkorapin Jessada, Lindblom Annika, Tham Em |
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 |
Genetic architecture of human thinness compared to severe obesity.
PLoS genetics 2019 01 15 (1): e1007603. Riveros-McKay Fernando, Mistry Vanisha, Bounds Rebecca, Hendricks Audrey, Keogh Julia M, Thomas Hannah, Henning Elana, Corbin Laura J, , O'Rahilly Stephen, Zeggini Eleftheria, Wheeler Eleanor, Barroso Inês, Farooqi I Sad |
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 |
Genomic landscape and evolution of arm aneuploidy in lung adenocarcinoma. Neoplasia (New York, N.Y.) 2021 7 23 (9): 870-878. Gao Beili, Yang Fujun, Han Ming, Bao Hua, Shen Yi, Cao Ran, Wu Xue, Shao Yang, Liu Changhong, Zhang Z |
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 |
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach. Human mutation 2021 Aug . Mikó Ágnes, Kaposi Ambrus, Schnabel Karolina, Seidl Dániel, Tory Kálm |
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 |
The potential, analysis and prospect of ctDNA sequencing in hepatocellular carcinoma. PeerJ 2022 5 10 e13473. Ding Yubo, Yao Jingwei, Wen Meiling, Liu Xiong, Huang Jialu, Zhang Minghui, Zhang Yu, Lv Yufan, Xie Zhuoyi, Zuo JianHo |
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 |
Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups. Frontiers in oncology 2022 11 12 1000146. Li Peng, Meng Qingyu, Xue Yonggan, Teng Zhipeng, Chen Hanlin, Zhang Junli, Xu Yang, Wang Sha, Yu Ruoying, Ou Qiuxiang, Wu Xue, Jia Baoqi |
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 |
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases. Genes 2023 6 14 (6): . Ersilia Nigro, Maria Amicone, Daniela D'Arco, Gina Sellitti, Oriana De Marco, Maria Guarino, Eleonora Riccio, Antonio Pisani, Aurora Danie |
Genomic landscape of pancreatic cancer in the Japanese version of the Cancer Genome Atlas. Annals of gastroenterological surgery 2023 5 7 (3): 491-502. Taisuke Imamura, Ryo Ashida, Keiichi Ohshima, Katsuhiko Uesaka, Teiichi Sugiura, Yukiyasu Okamura, Katsuhisa Ohgi, Sumiko Ohnami, Takeshi Nagashima, Ken Yamaguc |
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 |
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure. Kidney international reports 2023 10 8 (10): 2126-2135. Yishay Ben-Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Hadas Shasha Lavsky, Oded Volovelsky, Shrikant Mane, Dror Ben-Ruby, Guy Chowers, Karl Skorecki, Yael Borovitz, Maayan Kagan, Nofar Mor, Yulia Khavkin, Shimrit Tzvi-Behr, Shirley Pollack, Moran Plonsky Toder, Michael Geylis, Aviad Schnapp, Rachel Becker-Cohen, Irith Weissman, Ruth Schreiber, Miriam Davidovits, Yaacov Frishberg, Daniella Magen, Ortal Barel, Asaf Vivan |
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 |
Whole-exome sequencing of Nigerian benign prostatic hyperplasia reveals increased alterations in apoptotic pathways. The Prostate 2024 1 . Jason A White, Ernest T Kaninjing, Kayode A Adeniji, Paul Jibrin, John O Obafunwa, Chidiebere N Ogo, Faruk Mohammed, Ademola Popoola, Omolara A Fatiregun, Olabode P Oluwole, Roland J Thorpe, Balasubramanyam Karanam, Isra Elhussin, Stefan Ambs, Wei Tang, Melissa Davis, Paz Polak, Moray J Campbell, Kathryn R Brignole, Solomon O Rotimi, Windy Dean-Colomb, Folake T Odedina, Clayton Yat |
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