Works matching DE "AUTOSOMAL recessive polycystic kidney"

Results: 465

Whole‐exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.

Published in:

Liver International, 2019, v. 39, n. 1, p. 177, doi. 10.1111/liv.13967

By:

Kluska, Anna;
Kulecka, Maria;
Litwin, Tomasz;
Dziezyc, Karolina;
Balabas, Aneta;
Piatkowska, Magdalena;
Paziewska, Agnieszka;
Dabrowska, Michalina;
Mikula, Michal;
Kaminska, Diana;
Wiernicka, Anna;
Socha, Piotr;
Czlonkowska, Anna;
Ostrowski, Jerzy

Publication type:

Article

Occupational Therapy in Cockayne Syndrome: A Case Report.

Published in:

Journal of Modern Rehabilitation, 2017, v. 11, n. 3, p. 189

By:

Pashmdarfard, Marzieh

Publication type:

Article

Electrolyte and metabolite composition of cystic fluid from a rat model of ARPKD.

Published in:

Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-07631-w

By:

Klemens, Christine A.;
Fedoriuk, Mykhailo;
Semenikhina, Marharyta;
Stefanenko, Mariia;
Zietara, Adrian;
Levchenko, Vladislav;
Dissanayake, Lashodya V.;
Palygin, Oleg;
Staruschenko, Alexander

Publication type:

Article

Autosomal Recessive Non-Syndromic Hearing Loss: A Case Report with a Novel TRIOBP Gene Variant.

Published in:

Case Reports in Clinical Practice, 2024, v. 9, n. 3, p. 108

By:

Jangam, Shweta;
Kurup, Manju;
Arora, Preeti;
Jawale, Shruti;
Duraphe, Prashant;
Gupte, Sanjay

Publication type:

Article

A Case Report of Isovaleric Acidemia without Acidosis.

Published in:

Case Reports in Clinical Practice, 2024, v. 9, n. 1, p. 3

By:

Ordooei, Mahtab;
Fallah, Razieh;
Saeida-Ardekani, Maryam;
Soheilipour, Fahimeh;
Yavari, Mahdieh;
Mazaheri, Mahta

Publication type:

Article

A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 4, p. 1428, doi. 10.3390/jcm12041428

By:

Li, Huixia;
Wang, Chunli;
Che, Ruochen;
Zheng, Bixia;
Zhou, Wei;
Huang, Songming;
Jia, Zhanjun;
Zhang, Aihua;
Zhao, Fei;
Ding, Guixia

Publication type:

Article

Review of the Use of Animal Models of Human Polycystic Kidney Disease for the Evaluation of Experimental Therapeutic Modalities.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 2, p. 668, doi. 10.3390/jcm12020668

By:

Nagao, Shizuko;
Yamaguchi, Tamio

Publication type:

Article

Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 21, p. 6528, doi. 10.3390/jcm11216528

By:

Sekine, Akinari;
Hidaka, Sumi;
Moriyama, Tomofumi;
Shikida, Yasuto;
Shimazu, Keiji;
Ishikawa, Eiji;
Uchiyama, Kiyotaka;
Kataoka, Hiroshi;
Kawano, Haruna;
Kurashige, Mahiro;
Sato, Mai;
Suwabe, Tatsuya;
Nakatani, Shinya;
Otsuka, Tadashi;
Kai, Hirayasu;
Katayama, Kan;
Makabe, Shiho;
Manabe, Shun;
Shimabukuro, Wataru;
Nakanishi, Koichi

Publication type:

Article

Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report.

Published in:

Case Reports in Nephrology & Dialysis, 2018, v. 8, n. 3, p. 223, doi. 10.1159/000493091

By:

Hasan, Asma;
Maynard, Sharon;
Santoriello, Dominick;
Schairer, Henry

Publication type:

Article

PSEUDOXANTHOMA ELASTICUM, GRONBLAD-STRANDBERG SYNDROME REVIEW OF LITERATURE AND CASE REPORT.

Published in:

Isra Medical Journal, 2016, v. 8, n. 3, p. 195

By:

RASHID, MARYAM;
BABAR, AYSHA;
REHAMAN, SYEDSAIF UR;
SHUJAAT, KAMIL;
HUSSAIN, SHUJAAT

Publication type:

Article

Posttest Questions.

Published in:: FP Essentials, 2024, n. 543, p. 36
Publication type:: Article

Pilot study using a discrete mathematical approach for topological analysis and ssGSEA of gene expression in autosomal recessive polycystic kidney disease.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-99048-y

By:

Okui, Nobuo;
Hachiya, Tsuyoshi;
Horie, Shigeo

Publication type:

Article

Mechanistic Insights into the Role of C-Type Lectin Receptor/CARD9 Signaling in Human Antifungal Immunity.

Published in:

Frontiers in Cellular & Infection Microbiology, 2016, v. 6, p. 1, doi. 10.3389/fcimb.2016.00039

By:

Drummond, Rebecca A.;
Lionakis, Michail S.

Publication type:

Article

Ultrasound Diagnosis of the Perinatal Form of Autosomal Recessive Polycystic Kidney Disease at 29 Weeks of Gestation.

Published in:

Apollo Medicine, 2022, v. 19, n. 4, p. 280, doi. 10.4103/am.am_47_22

By:

Reddy, Ravikanth

Publication type:

Article

The Role of Angiotensin‐II Infusion in an Infant With Autosomal Recessive Polycystic Kidney Disease Postbilateral Nephrectomies and Refractory Hypotension in the Neonatal Period.

Published in:

2025

By:

Nevarez Gilbert, Ana;
Rahde Bischoff, Adrianne;
Merrill, Kyle;
Fujigaki, Yoshihide

Publication type:

Case Study

Short-Term Outcome of Isolated Kidney Transplantation in Children with Autosomal Recessive Polycystic Kidney Disease: A Case Series and Literature Review.

Published in:

Clinics & Practice, 2024, v. 14, n. 1, p. 24, doi. 10.3390/clinpract14010003

By:

Acharya, Ratna;
Upadhyay, Kiran

Publication type:

Article

Molecular basis and clinical management of Gaucher disease.

Published in:

Cardiogenetics, 2013, v. 3, n. 1s, p. 24, doi. 10.4081/cardiogenetics.2013.s1.e4

By:

Di Rocco, Maja;
Loggini, Andrea;
Russo, Pierluigi

Publication type:

Article

Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature.

Published in:

Clinical & Experimental Dermatology, 2015, v. 40, n. 1, p. 56, doi. 10.1111/ced.12410

By:

Liu, J.‐J.;
Yuan, Y.‐Y.;
Zhang, X.‐Q.;
Li, Z.‐M.;
Xu, Y.‐S.;
Gao, S.‐M.;
Cai, J.‐F.;
Shao, X.‐H.;
Lin, X.‐H.;
Li, B.‐X.

Publication type:

Article

Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family.

Published in:

Molecular Medicine Reports, 2019, v. 20, n. 6, p. 5059, doi. 10.3892/mmr.2019.10738

By:

Wang, Jin;
Qi, Dandan;
Yang, Jialiang;
Zhang, Dingding;
Wang, Qingwei;
Ju, Xueming;
Zhong, Xiang

Publication type:

Article

Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis.

Published in:

Molecular Medicine Reports, 2019, v. 19, n. 6, p. 5030, doi. 10.3892/mmr.2019.10123

By:

Li, Li;
Lv, Shan-Shan;
Wang, Chun;
Yue, Hua;
Zhang, Zhen-Lin

Publication type:

Article

Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report.

Published in:

Molecular Medicine Reports, 2019, v. 19, n. 6, p. 4711, doi. 10.3892/mmr.2019.10153

By:

Huang, Chengzi;
Long, Xigui;
Peng, Can;
Lin, Pengsiyuan;
Tan, Hu;
Lv, Weigang;
Wu, Lingqian

Publication type:

Article

Black discolouration of urine in two young sisters.

Published in:: 2016
Publication type:: journal article

H syndrome: 5 new cases from the United States with novel features and responses to therapy.

Published in:

2017

By:

Bloom, Jessica L.;
Lin, Clara;
Imundo, Lisa;
Guthery, Stephen;
Stepenaskie, Shelly;
Galambos, Csaba;
Lowichik, Amy;
Bohnsack, John F.

Publication type:

Case Study

Heterozygosity analysis of polycystic kidney disease 1 gene microsatellite markers for linkage analysis of autosomal dominant polycystic kidney disease type 1 in the Iranian population.

Published in:

Journal of Research in Medical Sciences, 2017, v. 22, p. 1, doi. 10.4103/jrms.JRMS_136_17

By:

Fatehi, Razieh;
Khosravi, Sharifeh;
Abedi, Maryam;
Salehi, Rasoul;
Gheisari, Yousof

Publication type:

Article

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome.

Published in:

Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. N.PAG, doi. 10.1186/s13052-020-00922-4

By:

Serra, Gregorio;
Corsello, Giovanni;
Antona, Vincenzo;
D'Alessandro, Maria Michela;
Cassata, Nicola;
Cimador, Marcello;
Giuffrè, Mario;
Schierz, Ingrid Anne Mandy;
Piro, Ettore

Publication type:

Article

Shift from severe hypotension to salt-dependent hypertension in a child with autosomal recessive polycystic kidney disease after bilateral nephrectomies: a case report.

Published in:

2023

By:

Ruzgiene, Dovile;
Abraityte, Lauryna;
Azukaitis, Karolis;
Liebau, Max Christoph;
Jankauskiene, Augustina

Publication type:

Case Study

Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease.

Published in:

BMC Nephrology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12882-023-03072-x

By:

Mekahli, Djalila;
Liebau, Max C.;
Cadnapaphornchai, Melissa A.;
Goldstein, Stuart L.;
Greenbaum, Larry A.;
Litwin, Mieczyslaw;
Seeman, Tomas;
Schaefer, Franz;
Guay-Woodford, Lisa M.

Publication type:

Article

Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease.

Published in:

BMC Nephrology, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12882-023-03072-x

By:

Mekahli, Djalila;
Liebau, Max C.;
Cadnapaphornchai, Melissa A.;
Goldstein, Stuart L.;
Greenbaum, Larry A.;
Litwin, Mieczyslaw;
Seeman, Tomas;
Schaefer, Franz;
Guay-Woodford, Lisa M.

Publication type:

Article

Inherited Renal Diseases.

Published in:

Current Pediatric Reviews, 2014, v. 10, n. 2, p. 95

By:

Leung, Jocelyn C.

Publication type:

Article

60<sup>th</sup> ERA Congress, 15-18 June 2023 Congress Abstracts.

Published in:: Nephrology Dialysis Transplantation, 2023, v. 38, p. i1
Publication type:: Article

GENETIC DISEASES AND MOLECULAR GENETICS.

Published in:: Nephrology Dialysis Transplantation, 2020, v. 35, p. 342, doi. 10.1093/ndt/gfaa142
Publication type:: Article

RENAL DEVELOPMENT AND CYSTIC DISEASES.

Published in:: Nephrology Dialysis Transplantation, 2020, v. 35, p. 327, doi. 10.1093/ndt/gfaa142
Publication type:: Article

Outcome of autosomal dominant polycystic kidney disease patients on peritoneal dialysis: a national retrospective study based on two French registries (the French Language Peritoneal Dialysis Registry and the French Renal Epidemiology and Information Network)

Published in:

Nephrology Dialysis Transplantation, 2018, v. 33, n. 11, p. 2020, doi. 10.1093/ndt/gfx364

By:

Sigogne, Mickael;
Kanagaratnam, Lukshe;
Dupont, Vincent;
Couchoud, Cécile;
Verger, Christian;
Maheut, Hervé;
Hazzan, Marc;
Halimi, Jean Michel;
Barbe, Coralie;
Canivet, Eric

Publication type:

Article

Automatic total kidney volume measurement on follow-up magnetic resonance images to facilitate monitoring of autosomal dominant polycystic kidney disease progression.

Published in:

Nephrology Dialysis Transplantation, 2016, v. 31, n. 2, p. 241, doi. 10.1093/ndt/gfv314

By:

Kline, Timothy L.;
Korfiatis, Panagiotis;
Edwards, Marie E.;
Warner, Joshua D.;
Irazabal, Maria V.;
King, Bernard F.;
Torres, Vicente E.;
Erickson, Bradley J.

Publication type:

Article

More than a kidney disease: a patient-centred approach to improving care in autosomal dominant polycystic kidney disease.

Published in:

Nephrology Dialysis Transplantation, 2015, v. 30, n. 5, p. 693, doi. 10.1093/ndt/gfv058

By:

Youssouf, Sajeda;
Harris, Tess;
O'Donoghue, Donal

Publication type:

Article

PAEDIATRIC NEPHROLOGY.

Published in:: Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_3, p. iii567, doi. 10.1093/ndt/gfu181
Publication type:: Article

One hundred consecutive kidney transplantations with simultaneous ipsilateral nephrectomy in patients with autosomal dominant polycystic kidney disease.

Published in:

Nephrology Dialysis Transplantation, 2013, v. 28, n. 2, p. 466, doi. 10.1093/ndt/gfs118

By:

Neeff, Hannes Philipp;
Pisarski, Przemyslaw;
Tittelbach-Helmrich, Dietlind;
Karajanev, Konstantin;
Neumann, Hartmut P.H.;
Hopt, Ulrich Theodor;
Drognitz, Oliver

Publication type:

Article

Cholangitis resembling Caroli's syndrome in a patient with autosomal dominant polycystic kidney disease: Case report.

Published in:

2025

By:

Khudhair, Maha Arkan;
Christensen, Rikke;
Skakkebæk, Anne;
Graverholt, Jakob Grue;
Lødrup, Anders Bergh

Publication type:

Case Study

BCS1L gene mutation causing GRACILE syndrome: case report.

Published in:

Renal Failure, 2014, v. 36, n. 6, p. 953, doi. 10.3109/0886022X.2014.900422

By:

Kasapkara, Çiğdem Seher;
Tümer, Leyla;
Ezgü, Fatih Suheyl;
Küçükçongar, Aynur;
Hasanoğlu, Alev

Publication type:

Article

Pregnancy outcome of five patients with renal amyloidosis regarding familial Mediterranean fever.

Published in:

Renal Failure, 2014, v. 36, n. 2, p. 306, doi. 10.3109/0886022X.2013.846863

By:

Turgal, Mert;
Selcuk, Ilker;
Ozyuncu, Ozgur

Publication type:

Article

Massive bone marrow involvement in an end stage renal failure case with erythropoietin-resistant anemia and primary hyperoxaluria.

Published in:

Renal Failure, 2013, v. 35, n. 8, p. 1167, doi. 10.3109/0886022X.2013.815564

By:

Taşlı, Funda;
Özkök, Güliz;
Ok, Ebru Sevinç;
Soyer, Nur;
Mollamehmetoğlu, Hülya;
Vardar, Enver

Publication type:

Article

Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.

Published in:

Turkish Journal of Medical Sciences, 2024, v. 54, n. 5, p. 1135, doi. 10.55730/1300-0144.5892

By:

GEZGİN, Yüksel;
KIRNAZ, Berkay;
BAYLAROV, Rauf;
BERDELİ, Afig

Publication type:

Article

Two-dimensional (2D) morphologic measurements can quantify the severity of liver disease in children with autosomal recessive polycystic kidney disease (ARPKD).

Published in:

Abdominal Radiology, 2021, v. 46, n. 10, p. 4709, doi. 10.1007/s00261-021-03189-3

By:

Ghosh, Adarsh;
Serai, Suraj D.;
Venkatakrishna, Shyam Sunder B.;
Dutt, Mohini;
Hartung, Erum A.

Publication type:

Article

Magnetic resonance elastography to quantify liver disease severity in autosomal recessive polycystic kidney disease.

Published in:

Abdominal Radiology, 2021, v. 46, n. 2, p. 570, doi. 10.1007/s00261-020-02694-1

By:

Hartung, Erum A.;
Calle-Toro, Juan S.;
Lopera, Carolina Maya;
Wen, Jessica;
Carson, Robert H.;
Dutt, Mohini;
Howarth, Kathryn;
Furth, Susan L.;
Darge, Kassa;
Serai, Suraj D.

Publication type:

Article

Diffusion tensor imaging of the kidney in healthy controls and in children and young adults with autosomal recessive polycystic kidney disease.

Published in:

Abdominal Radiology, 2019, v. 44, n. 5, p. 1867, doi. 10.1007/s00261-019-01933-4

By:

Calle-Toro, Juan S.;
Serai, Suraj D.;
Otero, Hansel J.;
Berman, Jeffrey I.;
Darge, Kassa;
Hartung, Erum A.

Publication type:

Article

Early onset pseudoxanthoma elasticum. Case report.

Published in:

2017

By:

Kuru, B. C.;
Koska, M. C.;
Çobanoğlu Simşek, B.;
Zindancı, İ;
Kavala, M.

Publication type:

Case Study

PIEBALDISM WITH REPIGMENTATION ISLANDS.

Published in:

European Journal of Pediatric Dermatology, 2017, v. 27, n. 2, p. 114

By:

Milano, A.

Publication type:

Article

Mutation analysis of the ABCC2 gene in Chinese patients with Dubin-Johnson syndrome.

Published in:

Experimental & Therapeutic Medicine, 2018, v. 16, n. 5, p. 4201, doi. 10.3892/etm.2018.6682

By:

Wu, Lina;
Zhang, Wei;
Jia, Siyu;
Zhao, Xinyan;
Zhou, Donghu;
Xu, Anjian;
Duan, Weijia;
Wu, Zhen;
Li, Hai;
Zheng, Sujun;
Nan, Yuemin;
Jia, Jidong;
Huang, Jian;
Ou, Xiaojuan

Publication type:

Article

Diagnostic of Early Onset Polycystic Kidney Disease in Neonates.

Published in:

Current Health Sciences Journal, 2018, v. 44, n. 4, p. 374, doi. 10.12865/CHSJ.44.04.09

By:

MATEESCU, DIANA ŞTEFANIA;
GHEONEA, MIHAELA;
BĂLĂ, SERENADA;
ROSU, GABRIELA-CAMELIA;
PIRICI, DANIEL;
ROGOVEANU, ION

Publication type:

Article

Editorial: Functional study of novel VUS (variant of uncertain significance) mutations in single-gene inherited disease.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1578736

By:

Yang, Guohua;
Zhong, Hua;
Wen, Huiliang;
Shen, Yiping

Publication type:

Article