Works matching Polycystic kidney disease and genetics

Results: 344

An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease.

Published in:

PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0116680

By:

Eisenberger, Tobias;
Decker, Christian;
Hiersche, Milan;
Hamann, Ruben C.;
Decker, Eva;
Neuber, Steffen;
Frank, Valeska;
Bolz, Hanno J.;
Fehrenbach, Henry;
Pape, Lars;
Toenshoff, Burkhard;
Mache, Christoph;
Latta, Kay;
Bergmann, Carsten

Publication type:

Article

Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease.

Published in:

Nefrologia, 2009, v. 29, n. 6, p. 562

By:

Gómez, P. Fraile;
Moro, E. Corral;
García-Cosmes, P.;
González Sarmiento, R.;
Tabernero^Romo, J. M.

Publication type:

Article

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman.

Published in:

2020

By:

Al Alawi, Intisar;
Molinari, Elisa;
Al Salmi, Issa;
Al Rahbi, Fatma;
Al Mawali, Adhra;
Sayer, John A.

Publication type:

journal article

Rapid and quantitative DNA analysis of genetic mutations for polycystic kidney disease (PKD) using magnetic/luminescent nanoparticles.

Published in:

Analytical & Bioanalytical Chemistry, 2008, v. 390, n. 7, p. 1829, doi. 10.1007/s00216-008-1892-4

By:

Son, Ahjeong;
Dhirapong, Amy;
Dosev, Dosi K.;
Kennedy, Ian M.;
Weiss, Robert H.;
Hristova, Krassimira R.

Publication type:

Article

EZH2 inhibition or genetic ablation suppresses cyst growth in autosomal dominant polycystic kidney disease.

Published in:

Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-05785-5

By:

Lv, Jiayi;
Lan, Bingxue;
Fu, Lili;
He, Chaoran;
Zhou, Wei;
Wang, Xi;
Zhou, Chenchen;
Mao, Zhiguo;
Chen, Yupeng;
Mei, Changlin;
Xue, Cheng

Publication type:

Article

常染色体显性遗传多囊肾病合并男性不育患者植入前遗传学检测的临床结局.

Published in:

Journal of International Reproductive Health/Family Planning, 2023, v. 42, n. 3, p. 189, doi. 10.12280/gjszjk.20230048

By:

王家雄;
倪梦霞;
汪维卓;
唐政;
沈丽燕;
付旭;
杨慎敏;
偶健

Publication type:

Article

Coincidence the Autosomal Recessive Polycystic Kidney Disease With Placenta Membranacea (A Probably Genetic Relation with PKHD1 Gene).

Published in:

Zahedan Journal of Research in Medical Sciences, 2016, v. 18, n. 5, p. 1, doi. 10.17795/zjrms-6675

By:

Hosseini, Ehsan;
Ghavam, Samira mis;
Hafezi-Ahmadi, Mohammad Reza

Publication type:

Article

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.

Published in:

Pediatric Nephrology, 2014, v. 29, n. 2, p. 223, doi. 10.1007/s00467-013-2657-7

By:

Krall, Paola;
Pineda, Cristina;
Ruiz, Patricia;
Ejarque, Laia;
Vendrell, Teresa;
Camacho, Juan;
Mendizábal, Santiago;
Oliver, Artur;
Ballarín, José;
Torra, Roser;
Ars, Elisabet

Publication type:

Article

Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease.

Published in:

Journal of Clinical Investigation, 2014, v. 124, n. 6, p. 2315, doi. 10.1172/JCI72272

By:

Harris, Peter C.;
Torres, Vicente E.

Publication type:

Article

Combined Preimplantation Genetic Testing for Autosomal Dominant Polycystic Kidney Disease: Consequences for Embryos Available for Transfer.

Published in:

Genes, 2020, v. 11, n. 6, p. 692, doi. 10.3390/genes11060692

By:

Mir Pardo, Pere;
Martínez-Conejero, José Antonio;
Martín, Julio;
Simón, Carlos;
Cervero, Ana

Publication type:

Article

Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.

Published in:

2019

By:

Berckmoes, V;
Verdyck, P;
Becker, P De;
Vos, A De;
Verheyen, G;
Niepen, P Van der;
Verpoest, W;
Liebaers, I;
Bonduelle, M;
Keymolen, K;
Rycke, M De;
De Becker, P;
De Vos, A;
Van der Niepen, P;
De Rycke, M

Publication type:

journal article

Mainstreaming Genetic Testing for Adult Patients With Autosomal Dominant Polycystic Kidney Disease.

Published in:

Canadian Journal of Kidney Health & Disease, 2021, p. 1, doi. 10.1177/20543581211055001

By:

Elliott, Mark D.;
James, Leslie C.;
Simms, Emily L.;
Sharma, Priyana;
Girard, Louis P.;
Cheema, Kim;
Elliott, Meghan J.;
Lauzon, Julie L.;
Chun, Justin

Publication type:

Article

Mainstreaming Genetic Testing for Adult Patients With Autosomal Dominant Polycystic Kidney Disease.

Published in:

Canadian Journal of Kidney Health & Disease, 2021, p. 1, doi. 10.1177/20543581211055001

By:

Elliott, Mark D.;
James, Leslie C.;
Simms, Emily L.;
Sharma, Priyana;
Girard, Louis P.;
Cheema, Kim;
Elliott, Meghan J.;
Lauzon, Julie L.;
Chun, Justin

Publication type:

Article

Comparison between ultrasound and genetic testing for the early diagnosis of polycystic kidney disease in Persian and Exotic Shorthair cats

Published in:

Journal of Feline Medicine & Surgery, 2009, v. 11, n. 6, p. 430, doi. 10.1016/j.jfms.2008.10.003

By:

Bonazzi, Mattia;
Volta, Antonella;
Gnudi, Giacomo;
Cozzi, Maria C.;
Strillacci, Maria G.;
Polli, Michele;
Longeri, Maria;
Manfredi, Sabrina;
Bertoni, Giorgio

Publication type:

Article

Polycystic kidney disease: a review and occurrence in Slovenia with comparison between ultrasound and genetic testing

Published in:

Journal of Feline Medicine & Surgery, 2008, v. 10, n. 2, p. 115, doi. 10.1016/j.jfms.2007.07.004

By:

Domanjko-Petrič, Aleksandra;
Černec, David;
Cotman, Marko

Publication type:

Article

Lack of genetic association among coat colors, progressive retinal atrophy and polycystic kidney disease in Persian cats

Published in:

Journal of Feline Medicine & Surgery, 2006, v. 8, n. 5, p. 357, doi. 10.1016/j.jfms.2006.04.002

By:

Rah, HyungChul;
Maggs, David J.;
Lyons, Leslie A.

Publication type:

Article

Evolving role of genetic testing for the clinical management of autosomal dominant polycystic kidney disease.

Published in:

Nephrology Dialysis Transplantation, 2019, v. 34, n. 9, p. 1453, doi. 10.1093/ndt/gfy261

By:

Lanktree, Matthew B;
Iliuta, Ioan-Andrei;
Haghighi, Amirreza;
Song, Xuewen;
Pei, York

Publication type:

Article

Come accompagnare la coppia con rene policistico in un percorso di diagnosi genetica preimpianto.

Published in:

Giornale di Clinica Nefrologica e Dialisi, 2024, v. 36, n. 1, p. 23, doi. 10.33393/gcnd.2024.3068

By:

Zuccarello, Daniela;
Livi, Claudia;
Zicaro, Valentina;
Cammunci, Sara;
Picchetta, Ludovica

Publication type:

Article

The genetic role in autosomal dominant polycystic kidney disease and nephrology clinical practice.

Published in:

2004

By:

Avery-Lynch M

Publication type:

Journal Article

GENETICS AND POLYCYSTIC KIDNEY DISEASE.

Published in:

CANNT Journal, 2004, v. 14, n. 4, p. 37

By:

Harwood, Lori;
Wilson, Barbara

Publication type:

Article

The genetic role in autosomal dominant polycystic kidney disease and nephrology clinical practice.

Published in:

CANNT Journal, 2004, v. 14, n. 4, p. 26

By:

Avery-Lynch, Margaret

Publication type:

Article

Reduction of ciliary length through pharmacologic or genetic inhibition of CDK5 attenuates polycystic kidney disease in a model of nephronophthisis.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 11, p. 2245, doi. 10.1093/hmg/ddw093

By:

Husson, Hervé;
Moreno, Sarah;
Smith, Laurie A.;
Smith, Mandy M.;
Russo, Ryan J.;
Pitstick, Rose;
Sergeev, Mikhail;
Ledbetter, Steven R.;
Bukanov, Nikolay O.;
Lane, Monica;
Zhang, Kate;
Billot, Katy;
Carlson, George;
Shah, Jagesh;
Meijer, Laurent;
Beier, David R.;
Ibraghimov-Beskrovnaya, Oxana

Publication type:

Article

The fertility willingness and acceptability of preimplantation genetic testing in Chinese patients with autosomal dominant polycystic kidney disease.

Published in:

2020

By:

Sun, Mingji;
Xue, Cheng;
Lu, Yunhui;
Ma, Yiyi;
Pan, Ting;
Wang, Xiaoliu;
Fan, Li;
Shen, Jiandong;
Hao, Yan;
Zheng, Danxia;
Li, Junhua;
Li, Mingxu;
He, Yaping;
Mei, Changlin

Publication type:

journal article

Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2008, v. 16, n. 1, p. 152, doi. 10.1016/S1472-6483(10)60569-X

By:

Gigarel, N.;
Frydman, N.;
Burlet, P.;
Kerbrat, V.;
Tachdjian, G.;
Fanchin, R.;
Antignac, C.;
Frydman, R.;
Munnich, A.;
Steffann, J.

Publication type:

Article

Autosomal Dominant Polycystic Kidney Disease - Clinical and Genetic Aspects.

Published in:

Kidney & Blood Pressure Research, 2002, v. 25, n. 5, p. 265, doi. 10.1159/000066788

By:

Bogdanova, Nadja;
Markoff, Arseni;
Horst, Jürgen

Publication type:

Article

GENETIC DISORDERS - DEVELOPMENT Follow-up of intracranial aneurysms in autosomal-dominant polycystic kidney disease.

Published in:

Kidney International, 2004, v. 65, n. 5, p. 1621, doi. 10.1111/j.1523-1755.2004.00572.x

By:

Gibbs, Gordon F.;
Houston III, John;
Qian, Qi;
Kubly, Vickie;
Harris, Peter C.;
Brown Jr., Robert D.;
Torres, Vicente E.

Publication type:

Article

High-resolution genetic localization of a modifying locus affecting disease severity in the juvenile cystic kidneys ( jck) mouse model of polycystic kidney disease.

Published in:

Mammalian Genome, 2016, v. 27, n. 5/6, p. 191, doi. 10.1007/s00335-016-9633-z

By:

Beier, David

Publication type:

Article

Genetics and Pathogenesis of Autosomal Dominant Polycystic Kidney Disease: 20 Years On.

Published in:

Human Mutation, 2014, v. 35, n. 12, p. 1393, doi. 10.1002/humu.22708

By:

Cornec‐Le Gall, Emilie;
Audrézet, Marie‐Pierre;
Le Meur, Yannick;
Chen, Jian‐Min;
Férec, Claude

Publication type:

Article

Genetics May Predict Effectiveness of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease.

Published in:

2020

By:

Sekine, Akinari;
Hoshino, Junichi;
Fujimaru, Takuya;
Suwabe, Tatsuya;
Mizuno, Hiroki;
Kawada, Masahiro;
Hiramatsu, Rikako;
Hasegawa, Eiko;
Yamanouchi, Masayuki;
Hayami, Noriko;
Mandai, Shintaro;
Chiga, Motoko;
Kikuchi, Hiroaki;
Ando, Fumiaki;
Mori, Takayasu;
Sohara, Eisei;
Uchida, Shinichi;
Sawa, Naoki;
Takaichi, Kenmei;
Ubara, Yoshifumi

Publication type:

journal article

基因诊断 Caroli 综合征合并常染色体隐性遗传性多囊肾1例及文献回顾.

Published in:

Journal of Health Sciences of Peking University / Beijing Daxue Xuebao (Yixue Ban), 2018, v. 50, n. 2, p. 335, doi. 10.3969/j.issn.1671-167X.2018.02.022

By:

杨夕樓;
朱灵平;
刘雪芽;
张春雨;
姚勇;
吴哗

Publication type:

Article

Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease.

Published in:

Nature Genetics, 2013, v. 45, n. 9, p. 1004, doi. 10.1038/ng.2715

By:

Ma, Ming;
Tian, Xin;
Igarashi, Peter;
Pazour, Gregory J;
Somlo, Stefan

Publication type:

Article

A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.

Published in:

Nature Genetics, 2011, v. 43, n. 7, p. 639, doi. 10.1038/ng.860

By:

Fedeles, Sorin V.;
Xin Tian;
Gallagher, Anna-Rachel;
Mitobe, Michihiro;
Nishio, Saori;
Seung Hun Lee;
Yiqiang Cai;
Lin Geng;
Crews, Craig M.;
Somlo, Stefan

Publication type:

Article

Prenatal diagnosis of adult polycystic kidney disease with DNA markers on chromosome 16 and the genetic heterogeneity problem.

Published in:

1989

By:

Novelli, G.;
Frontali, M.;
Baldini, D.;
Bosman, C.;
Dallapiccola, B.;
Pachì, A.;
Torcia, F.;
Pachì, A

Publication type:

journal article

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-40761-w

By:

Ali, Hamad;
Al-Mulla, Fahd;
Hussain, Naser;
Naim, Medhat;
Asbeutah, Akram M.;
AlSahow, Ali;
Abu-Farha, Mohamed;
Abubaker, Jehad;
Al Madhoun, Ashraf;
Ahmad, Sajjad;
Harris, Peter C.

Publication type:

Article

The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait.

Published in:

Clinical Kidney Journal, 2023, v. 16, n. 2, p. 355, doi. 10.1093/ckj/sfac236

By:

Ali, Hamad;
Naim, Medhat;
Senum, Sarah R;
AlSahow, Ali;
Bahbahani, Yousif;
Abu-Farha, Mohamed;
Abubaker, Jehad;
Mohammad, Anwar;
Al-Hunayan, Adel;
Asbeutah, Akram M;
Zayed, Mohamed;
Devarajan, Sriraman;
Hussain, Naser;
John, Sumi Elsa;
Channanath, Arshad;
Thanaraj, Thangavel Alphonse;
Al-Ali, Mohammad;
AlMousawi, Mustafa;
Al-Mulla, Fahd;
Harris, Peter C

Publication type:

Article

Birth of two healthy girls following preimplantation genetic diagnosis and gestational surrogacy in a rapidly progressive autosomal dominant polycystic kidney disease case using tolvaptan.

Published in:

Clinical Kidney Journal, 2021, v. 14, n. 8, p. 1987, doi. 10.1093/ckj/sfab082

By:

Peces, Ramón;
Mena, Rocío;
Peces, Carlos;
Cuesta, Emilio;
Lapunzina, Pablo;
Selgas, Rafael;
Nevado, Julián

Publication type:

Article

Simultaneous Pancreatic and Kidney Transplant in Adult with Autosomal Dominant Polycystic Kidney Disease and Type I Diabetes Mellitus: Post Surgical Events and Genetic Review.

Published in:

Oman Medical Journal, 2024, v. 39, n. 3, p. 19, doi. 10.5001/omj.2024.18

By:

Al Alawi, Intisar;
Mohammed, Ehab;
Al Rahbi, Fatma;
Metry, AbdelMasieh;
Hannawi, Suad;
Al Salmi, Issa

Publication type:

Article

Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease.

Published in:

Journal of Research in Medical Sciences, 2019, v. 24, n. 1, p. 44, doi. 10.4103/jrms.JRMS_835_18

By:

Bitarafan, Fatemeh;
Garshasbi, Masoud

Publication type:

Article

Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease.

Published in:

Journal of Research in Medical Sciences, 2019, v. 24, p. 1, doi. 10.4103/jrms.JRMS_835_18

By:

Bitarafan, Fatemeh;
Garshasbi, Masoud

Publication type:

Article

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

Published in:

2018

By:

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

Publication type:

journal article

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-97046-4

By:

Yang, Chaozhe;
Harafuji, Naoe;
O'Connor, Amber K.;
Kesterson, Robert A.;
Watts, Jacob A.;
Majmundar, Amar J.;
Braun, Daniela A.;
Lek, Monkol;
Laricchia, Kristen M.;
Fathy, Hanan M.;
Mane, Shrikant;
Shril, Shirlee;
Hildebrandt, Friedhelm;
Guay-Woodford, Lisa M.

Publication type:

Article

Genetic evidence for a trans -heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 3, p. 447, doi. 10.1093/hmg/9.3.447

By:

Koptides, Michael

Publication type:

Article

Location of the First Genetic Locus, PKDr1, Controlling Autosomal Dominant Polycystic Kidney Disease in Han:SPRD cy/+ rat.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 4, p. 609, doi. 10.1093/hmg/6.4.609

By:

Bihoreau, Marie-Thérèse;
Ceccherini, Isabella;
Browne, Julie;
Kränzlin, Betina;
Romeo, Giovanni;
Lathrop, G. Mark;
James, Michael R.;
Gretz, Norbert

Publication type:

Article

单精子测序技术在常染色体显性遗传多囊肾患者植入前遗传学检测中的应用

Published in:

National Journal of Andrology / Zhonghua Nankexue, 2022, v. 28, n. 5, p. 408, doi. 10.13263/j.cnki.nja.2022.05.004

By:

邓天勤;
谢雨莉;
张华坤;
海燕;
焦淑静;
李雪梅

Publication type:

Article

Preimplantation genetic diagnosis for infertile males with autosomal dominant polycystic kidney disease.

Published in:

National Journal of Andrology / Zhonghua Nankexue, 2018, v. 24, n. 5, p. 409, doi. 10.13263/j.cnki.nja.2018.05.005

By:

YANG Xiao-yu;
LI Tao;
LIU Xiao-jun;
SHEN Jian-dong;
CUI Yu-gui;
ZHANG Gui-rong;
LIU Jia-yin

Publication type:

Article

Blocker displacement amplification-based genetic diagnosis for autosomal dominant polycystic kidney disease and the clinical outcomes of preimplantation genetic testing.

Published in:

Journal of Assisted Reproduction & Genetics, 2023, v. 40, n. 4, p. 783, doi. 10.1007/s10815-023-02722-1

By:

Lin, Tingting;
Luo, Junfeng;
Yu, Haibing;
Dong, Bohao;
Zhang, Qi;
Zhang, Wei;
Chen, Ke;
Xiang, Yezhou;
Liu, Dongyun;
Huang, Guoning

Publication type:

Article

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 16, p. 1940, doi. 10.1093/hmg/ddm141

By:

Garcia-Gonzalez, Miguel A.;
Menezes, Luis F.;
Piontek, Klaus B.;
Kaimori, Junya;
Huso, David L.;
Watnick, Terry;
Onuchic, Luiz F.;
Guay-Woodford, Lisa M.;
Germino, Gregory G.

Publication type:

Article

Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases.

Published in:

Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 13, p. 6318, doi. 10.1111/jcmm.16608

By:

Hua-Ying Hu;
Jing Zhang;
Wei Qiu;
Chao Liang;
Cun-Xi Li;
Tian-Ying Wei;
Zhan-Ke Feng;
Qing Guo;
Kai Yang;
Zu-Guo Liu

Publication type:

Article

Mutational screening of PKD2 gene in the north Indian polycystic kidney disease patients revealed 28 genetic variations.

Published in:

Journal of Genetics, 2017, v. 96, n. 6, p. 885, doi. 10.1007/s12041-017-0824-5

By:

RAJ, SONAM;
SINGH, RANA GOPAL;
DAS, PARIMAL

Publication type:

Article

The need for clinical, genetic and radiological characterization of atypical polycystic kidney disease.

Published in:

Journal of Nephrology (JNonline), 2025, v. 38, n. 2, p. 621, doi. 10.1007/s40620-024-02181-6

By:

Righini, Matteo;
Corsi, Cristiana;
Sciascia, Nicola;
Aiello, Valeria;
Ciurli, Francesca;
Lerario, Sarah;
Berti, Gian Marco;
Montanari, Francesca;
Conti, Amalia;
Cristalli, Carlotta Pia;
Menabò, Soara;
Caramanna, Luca;
Tondolo, Francesco;
Turchetti, Daniela;
La Manna, Gaetano;
Capelli, Irene

Publication type:

Article