Works matching DE "AUTOSOMAL recessive polycystic kidney"

Results: 460

Heart dysfunction in a rat model with autosomal recessive polycystic kidney disease.

Published in:

Journal of Physiology, 2025, v. 603, n. 9, p. 2551, doi. 10.1113/JP286364

By:

Gayrard, Nathalie;
Plawecki, Maëlle;
Lauret, Céline;
Fila, Marc;
Sicard, Pierre;
Duranton, Flore;
Boukhaled, Juliana H.;
Cortijo‐Tejero, Irene;
Lotierzo, Manuela;
Jover, Bernard;
Cristol, Jean‐Paul;
Raynaud, Fabrice

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

Síndrome de Joubert-Boltshauser con asociación a malformación Dandy- Walker. Reporte de dos casos.

Published in:

Revista Mexicana de Neurociencia, 2014, v. 15, n. 2, p. 112

By:

Peña-Landín, Dora Maricela;
Carmona-Vázquez, Carlos Raúl;
Medina-Crespo, Violeta;
Gómez-Garza, Gilberto;
Dávila-Gutiérrez, Guillermo

Publication type:

Article

A rare case report of the Cowden syndrome.

Published in:

Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00039-w

By:

Mahiboob, Sayyed;
Gupta, Rajesh

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

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

Is polycystic kidney disease associated with malignancy in children?

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.725

By:

Friend, Brian D.;
Wolfe Schneider, Kami;
Garrington, Timothy;
Truscott, Laurel;
Martinez‐Agosto, Julian A.;
Venick, Robert S.;
Tsai Chambers, Eileen;
Weng, Patricia;
Farmer, Douglas G.;
Chang, Vivian Y.;
Federman, Noah

Publication type:

Article

Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation.

Published in:

Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 302, doi. 10.1002/mgg3.143

By:

Wang, Shih‐Kai;
Hu, Yuanyuan;
Yang, Jie;
Smith, Charles E.;
Nunez, Stephanie M.;
Richardson, Amelia S;
Pal, Soumya;
Samann, Andrew C.;
Hu, Jan C.‐C.;
Simmer, James P.

Publication type:

Article

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.

Published in:

Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 2, p. 137, doi. 10.1002/mgg3.124

By:

Fedick, Anastasia M.;
Jalas, Chaim;
Treff, Nathan R.;
Knowles, Michael R.;
Zariwala, Maimoona A.

Publication type:

Article

Virtual pathological examination of the human fetal kidney using micro-CT.

Published in:

Ultrasound in Obstetrics & Gynecology, 2016, v. 48, p. 663, doi. 10.1002/uog.15859

By:

Hutchinson, J. C.;
Sebire, N. J.;
Arthurs, O. J.;
Barrett, H.;
Ramsey, A. T.;
Haig, I. G.;
Guy, A.

Publication type:

Article

Virtual pathological examination of the human fetal kidney using micro-CT.

Published in:

2016

By:

Hutchinson, J. C.;
Barrett, H.;
Ramsey, A. T.;
Haig, I. G.;
Guy, A.;
Sebire, N. J.;
Arthurs, O. J.

Publication type:

Letter

Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1.

Published in:

Nephrology, 2024, v. 29, n. 12, p. 990, doi. 10.1111/nep.14401

By:

Liu, Xiaoyu;
Sheng, Wenchao;
Liu, Nan;
Fan, Wenxuan;
Zhang, Shuyue;
Sun, Yuanyuan;
Cai, Yingzi;
Li, Dong;
Shu, Jianbo;
Cai, Chunquan

Publication type:

Article

Posters.

Published in:: 2024
Publication type:: Abstract

T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature.

Published in:

Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/2618071

By:

Ho, Kwo Wei David;
Jerath, Nivedita U.

Publication type:

Article

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.

Published in:

Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6737938

By:

Al-Hashmi, Nadia;
Mohammed, Mohammed;
Al-Kathir, Salim;
Al-Yarubi, Naeema;
Scott, Patrick

Publication type:

Article

Blood pressure in children with renal cysts and diabetes syndrome.

Published in:

European Journal of Pediatrics, 2021, v. 180, n. 12, p. 3599, doi. 10.1007/s00431-021-04165-1

By:

Seeman, Tomáš;
Weigel, Friederike;
Blahova, Kveta;
Fencl, Filip;
Pruhova, Stepanka;
Hermes, Katharina;
Klaus, Richard;
Lange-Sperandio, Bärbel;
Grote, Veit;
John-Kroegel, Ulrike

Publication type:

Article

Clinical and genetic characterisation of a series of patients with triple A syndrome.

Published in:

2018

By:

Kurnaz, Erdal;
Duminuco, Paolo;
Aycan, Zehra;
Savaş-Erdeve, Şenay;
Muratoğlu Şahin, Nursel;
Keskin, Melişah;
Bayramoğlu, Elvan;
Bonomi, Marco;
Çetinkaya, Semra

Publication type:

journal article

Audiological outcomes in cases with mucopolysaccharidoses (Morquio's disease).

Published in:

Indian Journal of Otology, 2014, v. 20, n. 2, p. 75, doi. 10.4103/0971-7749.131873

By:

Kumar, Prawin;
Harit, Priyanjali;
Sharma, Rashika

Publication type:

Article

Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?

Published in:

American Journal of Case Reports, 2017, v. 18, p. 17, doi. 10.12659/AJCR.900970

By:

Scalco, Renata Siciliani;
Lorenzoni, Paulo José;
Lynch, David S.;
Martins, William Alves;
Jungbluth, Heinz;
Quinlivan, Ros;
Becker, Jefferson;
Houlden, Henry

Publication type:

Article

Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: type III Cockayne syndrome.

Published in:

Frontiers in Aging Neuroscience, 2013, v. 5, p. 1, doi. 10.3389/fnagi.2013.00080

By:

Baez, Sandra;
Couto, Blas;
Herrera, Eduar;
Bocanegra, Yamile;
Trujillo-Orrego, Natalia;
Madrigal-Zapata, Lucia;
Cardona, Juan Felipe;
Manes, Facundo;
Ibanez, Agustin;
Villegas, Andres

Publication type:

Article

Kindler syndrome and role of dental surgeon: Providing quality oral health care -- A case report.

Published in:

SRM Journal of Research in Dental Sciences, 2023, v. 14, n. 1, p. 52, doi. 10.4103/srmjrds.srmjrds_147_22

By:

Srinivedha, C. V.;
Bansal, Adity;
Chug, Ashi

Publication type:

Article

RECURRENT FETAL POLYCYSTIC KIDNEY DISEASE.

Published in:

2013

By:

Anwar, Sadia;
Ahmad, Sajjad

Publication type:

Case Study

Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency/Direktna Molekularna Dijagnoza CYP21A2 Tačkaste Mutacije Kod Makedonskih I Srpskih Pacijenata Sa Nedostatkom 21-Hidroksilaze.

Published in:

Journal of Medical Biochemistry, 2014, v. 34, n. 1, p. 52, doi. 10.2478/jomb-2014-0048

By:

Anastasovska, Violeta;
Milenković, Tatjana;
Kocova, Mirjana

Publication type:

Article

Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report.

Published in:

2018

By:

Tummolo, Albina;
Melpignano, Livio;
Carella, Antonella;
Di Mauro, Anna Maria;
Piccinno, Elvira;
Vendemiale, Marcella;
Ortolani, Federica;
Fedele, Stefania;
Masciopinto, Maristella;
Papadia, Francesco

Publication type:

journal article

Black discolouration of urine in two young sisters.

Published in:: 2016
Publication type:: journal article

Autosomal Recessive Polycystic Kidney Disease with Congenital Talipes Equinovarus - A Rare Autopsy Case Report.

Published in:

2023

By:

V. M., Shobini Vishali;
B., Neelayadakshi;
Menon, Dhanya;
Vasudeva, Sudha

Publication type:

Case Study

常染色体隐性遗传性多囊肾1例.

Published in:

Chinese Journal of Contemporary Pediatrics, 2024, v. 26, n. 9, p. 954, doi. 10.7499/j.issn.1008-8830.2401066

By:

许欣雨;
周青梅;
田云粉;
赵琼;
潘菡;
陈芊廷;
罗玉妹;
郭征征;
李天鹤;
杨景晖

Publication type:

Article

Pelizaeus-Merzbacher–Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 11, p. 1467, doi. 10.1177/0883073812463610

By:

Al-Yahyaee, Said Ali;
Al-Kindi, Mohammed;
Jonghe, Peter De;
Al-Asmi, Abdulah;
Al-Futaisi, Amna;
Vriendt, Els De;
Deconinck, Tine;
Chand, Pratap

Publication type:

Article

Distal renal tubular acidosis: a hereditary disease with an inadequate urinary H<sup>+</sup> excretion.

Published in:

Nefrologia, 2013, v. 33, n. 3, p. 289, doi. 10.3265/Nefrologia.pre2012.Oct.11592

By:

Escobar, Laura;
Mejía, Natalia;
Gil, Helena;
Santos, Fernando

Publication type:

Article

NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome.

Published in:

Nefrologia, 2012, v. 32, n. 5, p. 674, doi. 10.3265/Nefrologia.pre2012.Jun.11428

By:

Ameli, Sonbol;
Mazaheri, Mojgan;
Zare-Shahabadi, Ameneh;
Ozaltin, Fatih;
Asgarian, Fahimeh;
Monajemzadeh, Maryam;
Bazargani, Behnaz;
Ataei, Nematollah;
Hajezadeh, Niloofar;
Madani, Abbas;
Esfahani, Taher;
Isaian, Anna;
Zenker, Martin;
Rezaei, Nima

Publication type:

Article

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.

Published in:

2017

By:

Mina Yang;
Sung Yun Cho;
Hyung-Doo Park;
Rihwa Choi;
Young-Eun Kim;
Jinsup Kim;
Soo-Youn Lee;
Chang-Seok Ki;
Jong-Won Kim;
Young Bae Sohn;
Junghan Song;
Dong-Kyu Jin;
Yang, Mina;
Cho, Sung Yun;
Park, Hyung-Doo;
Choi, Rihwa;
Kim, Young-Eun;
Kim, Jinsup;
Lee, Soo-Youn;
Ki, Chang-Seok

Publication type:

journal article

A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0299-5

By:

Stange, Katja;
Désir, Julie;
Kakar, Naseebullah;
Mueller, Thomas D.;
Budde, Birgit S.;
Gordon, Christopher T.;
Horn, Denise;
Seemann, Petra;
Borck, Guntram

Publication type:

Article

A Heterozygous Splice‐Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals.

Published in:

Journal of Bone & Mineral Research, 2019, v. 34, n. 3, p. 482, doi. 10.1002/jbmr.3628

By:

Reyes, Monica;
Bravenboer, Bert;
Jüppner, Harald

Publication type:

Article

Metastatic Ovarian Tumor from Incidental Renal Cell Carcinoma: A Case Report and Literature Review.

Published in:

Al-Anbar Medical Journal, 2024, v. 20, n. 1, p. 113, doi. 10.33091/amj.2024.145878.1521

By:

Abdulqader, Shaymaa Khalid;
Abduljabbar Al-Ani, Yousif Ayad;
Akram, Nabeeha Najatee;
Nori, Wassan;
Al-Kinani, Mortadha

Publication type:

Article

Anauxetic dysplasia: A rare clinical entity.

Published in:

Turkish Journal of Pediatrics, 2018, v. 60, n. 1, p. 89, doi. 10.24953/turkjped.2018.01.014

By:

Akgün-Doğan, Özlem;
Şimsek-Kiper, Pelin Özlem;
Eda Utine, Gülen;
Boduroğlu, Koray

Publication type:

Article

Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review.

Published in:

BMC Pediatrics, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2431-14-73

By:

Huijun Shen;
Chunyue Feng;
Xia Jin1;
Jianhua Mao;
Haidong Fu;
Weizhong Gu;
Ai'min Liu;
Qiang Shu;
Lizhong Du

Publication type:

Article

Prenatal ultrasound in fetuses with polycystic kidney appearance — expanding the diagnostic algorithm.

Published in:

Archives of Gynecology & Obstetrics, 2023, v. 308, n. 4, p. 1287, doi. 10.1007/s00404-022-06814-8

By:

Simonini, Corinna;
Fröschen, Eva-Maria;
Nadal, Jennifer;
Strizek, Brigitte;
Berg, Christoph;
Geipel, Annegret;
Gembruch, Ulrich

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

INTERNATIONAL CONGRESS FOR STUDENTS, YOUNG DOCTORS AND PHARMACISTS MARISIENSIS.

Published in:

Acta Marisiensis. Seria Medica, 2020, v. 66, p. 1

By:

Sandu, Ana-Maria;
Catana, Ramona Teodora;
Adela, Nechifor-Boila;
Szasz, Emoke Andrea;
Borda, Angela

Publication type:

Article

Evaluation of final heights in patients with congenital adrenal hyperplasia.

Published in:

Pamukkale Medical Journal, 2024, v. 17, n. 2, p. 265, doi. 10.31362/patd.1366476

By:

Kurtipek, Fatma Burçin;
Bayramoğlu, Elvan;
Keskin, Melikşah;
Aycan, Zehra

Publication type:

Article

Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome.

Published in:

Clinical & Experimental Hypertension, 2018, v. 40, n. 2, p. 107, doi. 10.1080/10641963.2017.1334799

By:

Yang, Kun-Qi;
Lu, Chao-Xia;
Fan, Peng;
Zhang, Ying;
Meng, Xu;
Dong, Xue-Qi;
Luo, Fang;
Liu, Ya-Xin;
Zhang, Hui-Min;
Wu, Hai-Ying;
Cai, Jun;
Zhang, Xue;
Zhou, Xian-Liang

Publication type:

Article

An efficient machine learning-based approach for screening individuals at risk of hereditary haemochromatosis.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-77367-6

By:

Martins Conde, Patricia;
Sauter, Thomas;
Nguyen, Thanh-Phuong

Publication type:

Article