Works matching Polycystic kidney disease and genetics

Results: 365

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

P06.09: Prenatal ultrasound and genetic diagnosis of an autosomal recessive polycystic kidney disease associated with Klinefelter syndrome: rare case report.

Published in:

Ultrasound in Obstetrics & Gynecology, 2013, v. 42, p. 135, doi. 10.1002/uog.12990

By:

Albu, D.;
Albu, C.;
Oncescu, A.

Publication type:

Article

P09.09: Diagnosis of autosomal recessive polycystic kidney disease by molecular genetic study and fetal MRI.

Published in:

Ultrasound in Obstetrics & Gynecology, 2011, v. 38, p. 201, doi. 10.1002/uog.9733

By:

Park, I.;
Shin, J.

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

Genetic test for polycystic kidney disease in cats.

Published in:: Veterinary Record: Journal of the British Veterinary Association, 2004, v. 155, n. 13, p. 381
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

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

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

Genetic testing for feline polycystic kidney disease.

Published in:

Animal Genetics, 2004, v. 35, n. 6, p. 503, doi. 10.1111/j.1365-2052.2004.01213.x

By:

Grahn, R.A.;
Biller, D.S.;
Young, A.E.;
Roe, B.A.;
Qin, B.;
Lyons, L.A.

Publication type:

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

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

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

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

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

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

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

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

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

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

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

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

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

Molecular Genetic Analysis of PKHD1 Mutations in Pedigrees With Autosomal Recessive Polycystic Kidney Disease.

Published in:

2018

By:

Bitarafan, Fatemeh;
Garshasbi, Masoud

Publication type:

journal 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

Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis.

Published in:

Human Genetics, 2000, v. 107, n. 2, p. 115, doi. 10.1007/s004390000347

By:

Koptides, Michael;
Deltas, C. Constantinou

Publication type:

Article

Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families.

Published in:

Clinical Genetics, 1991, v. 40, n. 4, p. 287, doi. 10.1111/j.1399-0004.1991.tb03098.x

By:

Turco, Alberto;
Peissel, Bernard;
Gammaro, Linda;
Maschio, Giuseppe;
Pignatti, Pier Franco

Publication type:

Article

Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity.

Published in:

Clinical Genetics, 1989, v. 35, n. 1, p. 13, doi. 10.1111/j.1399-0004.1989.tb02900.x

By:

Gal, Andreas;
Wirth, Brunhilde;
Kääriäinen, Helena;
Lucotte, Gerard;
Landais, Paul;
Gillessen-Kaesbach, Gabriele;
Müller-Wiefel, Dirk E.;
Zerres, Klaus

Publication type:

Article

Genetic counselling for adult polycystic kidney disease. Ultrasound a useful tool in pre-symptomatic diagnosis?

Published in:

Clinical Genetics, 1980, v. 18, n. 3, p. 168, doi. 10.1111/j.1399-0004.1980.tb00865.x

By:

Hogewind, BarendL.;
Veltkamp, JanJ.;
Koch, CornelisW.;
Graeff, Jaap de

Publication type:

Article

Genetics: molecular basis of Mendelian disorders. Polycystic kidney disease.

Published in:

2001

By:

Pergament E;
Bayrak-Toydemir P

Publication type:

Journal Article

Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.

Published in:

Journal of Molecular Medicine, 2005, v. 83, n. 8, p. 638, doi. 10.1007/s00109-005-0644-6

By:

Peltola, Paula;
Lumiaho, Anne;
Miettinen, Raija;
Pihlajamäki, Jussi;
Sandford, Richard;
Laakso, Markku

Publication type:

Article

Interzeta-Globin Gene Hypervariable Regions in Chinese: Application to Genetic Diagnosis of Adult Polycystic Kidney Disease.

Published in:

Human Heredity, 1989, v. 39, n. 5, p. 294, doi. 10.1159/000153875

By:

Wann, Shiang;
Chen, Tzen-Wen;
Huang, Tung-Po;
Wang, Jye-Yang;
Peng, Hong-Wen

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

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

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

Autosomal dominant polycystic kidney disease—type 2. Ultrasound, genetic and clinical correlations.

Published in:

Nephrology Dialysis Transplantation, 2000, v. 15, n. 2, p. 205, doi. 10.1093/ndt/15.2.205

By:

Demetriou, Kyproulla;
Tziakouri, Chrysa;
Anninou, Kristiana;
Eleftheriou, Andri;
Koptides, Michalis;
Nicolaou, Alexia;
Deltas, C. Constantinou;
Pierides, Alkis

Publication type:

Article

On genetic heterogeneity, anticipation, and imprinting in polycystic kidney diseases.

Published in:

Nephrology Dialysis Transplantation, 1995, v. 10, n. 1, p. 7

By:

Zerres, K.;
Rudnik-Schöneborn, S.

Publication type:

Article

Author Correction: Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Published in:

2020

By:

Kim, Hyunsuk;
Park, Hayne Cho;
Ryu, Hyunjin;
Kim, Hyunho;
Lee, Hyun-Seob;
Heo, Jongho;
Lee, Chung;
Kim, Nayoung K. D.;
Park, Woong-Yang;
Hwang, Young-Hwan;
Lee, Kyu Beck;
Oh, Kook-Hwan;
Oh, Yun kyu;
Ahn, Curie

Publication type:

Correction Notice

Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-52474-1

By:

Kim, Hyunsuk;
Park, Hayne Cho;
Ryu, Hyunjin;
Kim, Hyunho;
Lee, Hyun-Seob;
Heo, Jongho;
Lee, Chung;
Kim, Nayoung K. D.;
Park, Woong-Yang;
Hwang, Young-Hwan;
Lee, Kyu Beck;
Oh, Kook-Hwan;
Oh, Yun kyu;
Ahn, Curie

Publication type:

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

Genetic testing, ultrasonography and preimplantation genetic testing of men with autosomal dominant polycystic kidney disease in Hunan, China.

Published in:

Andrologia, 2022, v. 54, n. 1, p. 1, doi. 10.1111/and.14273

By:

Li, Weina;
Liu, Gang;
Zhao, Xingguo;
Lu, Yichang;
Li, Huanzhu;
Zhang, Huan;
Lin, Ge

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

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

Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis.

Published in:

Journal of Obstetrics & Gynaecology Research, 2011, v. 37, n. 11, p. 1744, doi. 10.1111/j.1447-0756.2011.01594.x

By:

Dong Gyu Jang;
Hyojin Chae;
Jong Chul Shin;
In Yang Park;
Myungshin Kim;
Yonggoo Kim

Publication type:

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