Works matching DE "AUTOSOMAL recessive polycystic kidney"

Results: 460

Birth of a healthy boy after PGD for X-linked heterotaxy syndrome.

Published in:

2014

By:

Bautista-Llácer, R.;
Pardo-Belenguer, M.;
García-Mengual, E.;
Sánchez-Matamoros, C.;
Raga, E.;
Calafell, J.;
Cívico, M.;
Fábregues, F.;
Vendrell, X.

Publication type:

Report

A genetic portrait of Oraon Indian tribe drawn with 15 autosomal and 17 Y chromosomal STR markers.

Published in:

International Journal of Legal Medicine, 2016, v. 130, n. 5, p. 1185, doi. 10.1007/s00414-016-1322-7

By:

Shrivastava, Pankaj;
Jain, Toshi;
Trivedi, V.

Publication type:

Article

Association between Y haplogroups and autosomal AIMs reveals intra-population substructure in Bolivian populations.

Published in:

International Journal of Legal Medicine, 2015, v. 129, n. 4, p. 673, doi. 10.1007/s00414-014-1025-x

By:

Vullo, Carlos;
Gomes, Verónica;
Romanini, Carola;
Oliveira, Andréa;
Rocabado, Omar;
Aquino, Juliana;
Amorim, António;
Gusmão, Leonor

Publication type:

Article

Analysis of 15 autosomal STR loci from Mar del Plata and Bahia Blanca (Central Region of Argentina).

Published in:

International Journal of Legal Medicine, 2014, v. 128, n. 3, p. 457, doi. 10.1007/s00414-013-0937-1

By:

Parolin, María;
Carreras-Torres, Robert;
Sambuco, Lorena;
Jaureguiberry, Stella;
Iudica, Celia

Publication type:

Article

Development and validation of a multiplex reaction analyzing eight miniSTRs of the X chromosome for identity and kinship testing with degraded DNA.

Published in:

International Journal of Legal Medicine, 2013, v. 127, n. 4, p. 735, doi. 10.1007/s00414-012-0795-2

By:

Castañeda, María;
Odriozola, Adrián;
Gómez, Javier;
Zarrabeitia, María

Publication type:

Article

A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation.

Published in:

Audiology & Neurotology, 2013, v. 18, n. 3, p. 192, doi. 10.1159/000350246

By:

Volk, Alexander E.;
Lang-Roth, Ruth;
Yigit, Goekhan;
Borck, Guntram;
Nuernberg, Gudrun;
Rosenkranz, Stephan;
Nuernberg, Peter;
Kubisch, Christian;
Beutner, Dirk

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

Multigeneration family with dominant SPG30 hereditary spastic paraplegia.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 11, p. 821, doi. 10.1002/acn3.452

By:

Roda, Ricardo H.;
Schindler, Alice B.;
Blackstone, Craig

Publication type:

Article

Laing distal myopathy pathologically resembling inclusion body myositis.

Published in:

Annals of Clinical & Translational Neurology, 2014, v. 1, n. 12, p. 1053, doi. 10.1002/acn3.140

By:

Roda, Ricardo H.;
Schindler, Alice B.;
Blackstone, Craig;
Mammen, Andrew L.;
Corse, Andrea M.;
Lloyd, Thomas E.

Publication type:

Article

Original tumour suppressor gene polycystic kidney and hepatic disease 1-like 1 is associated with thyroid cancer cell progression.

Published in:

Oncology Letters, 2019, v. 18, n. 3, p. 3227, doi. 10.3892/ol.2019.10632

By:

Zheng, Chen;
Quan, Ruida;
Xia, Er-Jie;
Bhandari, Adheesh;
Zhang, Xiaohua

Publication type:

Article

Determination of urinary lithogenic parameters in murine models orthologous to autosomal dominant polycystic kidney disease.

Published in:

Urolithiasis, 2014, v. 42, n. 4, p. 301, doi. 10.1007/s00240-014-0664-1

By:

Ferraz, Renato;
Fonseca, Jonathan;
Germino, Gregory;
Onuchic, Luiz;
Heilberg, Ita

Publication type:

Article

Genetic vs non-genetic kidney disease: prognosis insights from a multi-cohort study.

Published in:

Clinical Kidney Journal, 2025, v. 18, n. 3, p. 1, doi. 10.1093/ckj/sfaf033

By:

Dirim, Ahmet Burak;
Torra, Roser

Publication type:

Article

Two novel mutations of the CLDN16 gene cause familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.

Published in:

Clinical Kidney Journal, 2014, v. 7, n. 3, p. 282, doi. 10.1093/ckj/sfu019

By:

Hanssen, Oriane;
Castermans, Emilie;
Bovy, Christophe;
Weekers, Laurent;
Erpicum, Pauline;
Dubois, Bernard;
Bours, Vincent;
Krzesinski, Jean-Marie;
Jouret, François

Publication type:

Article

Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus—update and epidemiology.

Published in:

Clinical Kidney Journal, 2012, v. 5, n. 3, p. 195, doi. 10.1093/ckj/sfs029

By:

Bichet, Daniel G.;
El Tarazi, Abdulah;
Matar, Jessica;
Lussier, Yoann;
Arthus, Marie-Françoise;
Lonergan, Michèle;
Bockenhauer, Detlef;
Bissonnette, Pierre

Publication type:

Article

A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance.

Published in:

2015

By:

Grønhøj Larsen, Christian;
Gyldenløve, Mette;
Jønch, Aia Elise;
Charabi, Birgitte;
Tümer, Zeynep

Publication type:

Case Study

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

A Novel Mutation of the CYP11B2 in a Saudi Infant with Primary Hypoaldosteronism.

Published in:

Case Reports in Endocrinology, 2017, p. 1, doi. 10.1155/2017/8431475

By:

Alfaraidi, Lama;
Alfaifi, Abrar;
Alquaiz, Rawan;
Almijmaj, Faten;
Mawlawi, Horia

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

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

Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant.

Published in:

2025

By:

Yotsapon Thewjitcharoen;
Soontaree Nakasatien;
Veekij Veerasomboonsin;
Tsoi, Sandra T. F.;
Lim, Cadmon K. P.;
Thep Himathongkam

Publication type:

Case Study

The Pathophysiology of Inherited Renal Cystic Diseases.

Published in:

Genes, 2024, v. 15, n. 1, p. 91, doi. 10.3390/genes15010091

By:

Satariano, Matthew;
Ghose, Shaarav;
Raina, Rupesh

Publication type:

Article

Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted TSC1/TSC2 Sequencing.

Published in:

Genes, 2021, v. 12, n. 9, p. 1401, doi. 10.3390/genes12091401

By:

Kovesdi, Erzsebet;
Ripszam, Reka;
Postyeni, Etelka;
Horvath, Emese Beatrix;
Kelemen, Anna;
Fabos, Beata;
Farkas, Viktor;
Hadzsiev, Kinga;
Sumegi, Katalin;
Magyari, Lili;
Moreno, Pilar Guatibonza;
Bauer, Peter;
Melegh, Bela

Publication type:

Article

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Published in:

Genes, 2018, v. 9, n. 4, p. 216, doi. 10.3390/genes9040216

By:

Stella, Alessandro;
Lastella, Patrizia;
Loconte, Daria Carmela;
Bukvic, Nenad;
Varvara, Dora;
Patruno, Margherita;
Bagnulo, Rosanna;
Lovaglio, Rosaura;
Bartolomeo, Nicola;
Serio, Gabriella;
Resta, Nicoletta

Publication type:

Article

End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases.

Published in:

International Journal of Nephrology, 2017, p. 1, doi. 10.1155/2017/6403985

By:

Al Alawi, Intisar;
Al Salmi, Issa;
Al Mawali, Adhra;
Al Maimani, Yacoub;
Sayer, John A.

Publication type:

Article

Hyperinsulinemic Hypoglycemia Due to PMM2 Mutation in Two Siblings with Autosomal Recessive Polycystic Kidney Disease.

Published in:

2022

By:

Acharya, Ratna;
Upadhyay, Kiran

Publication type:

Case Study

Dubowitz syndrome: common findings and peculiar urine odor.

Published in:

Application of Clinical Genetics, 2013, v. 6, p. 87, doi. 10.2147/TACG.S47777

By:

Chehade, Cynthia;
Awwad, Johnny;
Yazbeck, Nadine;
Majdalani, Marianne;
Wakim, Rima;
Tfayli, Hala;
Farra, Chantal

Publication type:

Article

Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature.

Published in:

2019

By:

Belin, Sarah;
Delco, Cristina;
Parvex, Paloma;
Hanquinet, Sylviane;
Fokstuen, Siv;
Martinez de Tejada, Begoña;
Eperon, Isabelle

Publication type:

journal article

Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis.

Published in:

European Journal of Neurology, 2013, v. 20, n. 5, p. 740, doi. 10.1111/ene.12024

By:

Giardino, G.;
Fusco, A.;
Romano, R.;
Gallo, V.;
Maio, F.;
Esposito, T.;
Palamaro, L.;
Parenti, G.;
Salerno, M. C.;
Vajro, P.;
Pignata, C.

Publication type:

Article

Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test.

Published in:

PLoS ONE, 2019, v. 14, n. 1, p. 1, doi. 10.1371/journal.pone.0209864

By:

Lewis, T. W.;
Mellersh, C. S.

Publication type:

Article

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

A variant allele of the Mediterranean‐fever gene increases the severity of gout.

Published in:

International Journal of Rheumatic Diseases, 2018, v. 21, n. 1, p. 338, doi. 10.1111/1756-185X.12872

By:

Balkarli, Ayse;
Tepeli, Emre;
Balkarli, Huseyin;
Kaya, Arif;
Cobankara, Veli

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

Autoptic aspects in a case of autosomal dominant polycystic kidney disease.

Published in:

Clinica Terapeutica, 2024, v. 175, p. 176, doi. 10.7417/CT.2024.5110

By:

Gualtieri, S.;
Sacco, M. A.;
Tarzia, P.;
Tarallo, A. P.;
Manno, M.;
Aquila, I.

Publication type:

Article

Liver Transplantation for Primary Hyperoxaluria Type 1: A Single-center Experience during Two Decades in Japan.

Published in:

World Journal of Surgery, 2013, v. 37, n. 3, p. 688, doi. 10.1007/s00268-012-1867-7

By:

Hori, Tomohide;
Egawa, Hiroto;
Kaido, Toshimi;
Ogawa, Kohei;
Uemoto, Shinji

Publication type:

Article

POTTER SYNDROME, A RARE ENTITY WITH HIGH RECURRENCE RISK IN WOMEN WITH RENAL MALFORMATIONS - CASE REPORT AND A REVIEW OF THE LITERATURE.

Published in:

2017

By:

Rolea, George;
Marginean, Claudiu;
Sasaran, Vladut Stefan;
Marginean, Cristian Dan;
Melit, Lorena Elena

Publication type:

Case Study

Job Syndrome -- Autosomal recessive type.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2012, v. 61, n. 4, p. 391

By:

Alexoae, Monica;
Ioniuc, Ileana;
Carasievici, E.;
Covic, M.;
Gotia, Stela

Publication type:

Article

SINDROM JOB -- FORMĂ AUTOSOMAL RECESIVĂ.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2012, v. 61, n. 4, p. 388

By:

Alexoae, Monica;
Ioniuc, Ileana;
Carasievici, E.;
Covic, M.;
Goţia, Stela

Publication type:

Article

WILSON'S DISEASE.

Published in:

Romanian Journal of Neurology, 2011, v. 10, n. 3, p. 148, doi. 10.37897/rjn.2011.3.8

By:

Hancu, A.;
Mihai, C.;
Zguma, D.;
Docu Axelerad, A.;
Dumitru, E.;
Kaivanifard, M.

Publication type:

Article

A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.

Published in:

Journal of Neural Transmission, 2018, v. 125, n. 12, p. 1877, doi. 10.1007/s00702-018-1924-y

By:

Milenkovic, Ivan;
Zimprich, Alexander;
Gencik, Martin;
Platho-Elwischger, Kirsten;
Seidel, Stefan

Publication type:

Article

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.

Published in:

Nature Genetics, 2014, v. 46, n. 3, p. 299, doi. 10.1038/ng.2898

By:

Tory, Kálmán;
Menyhárd, Dóra K;
Woerner, Stéphanie;
Nevo, Fabien;
Gribouval, Olivier;
Kerti, Andrea;
Stráner, Pál;
Arrondel, Christelle;
Cong, Evelyne Huynh;
Tulassay, Tivadar;
Mollet, Géraldine;
Perczel, András;
Antignac, Corinne

Publication type:

Article

Anti‐HLA and anti‐SARS‐CoV‐2 antibodies in kidney transplant recipients with COVID‐19.

Published in:

Transplant International, 2021, v. 34, n. 3, p. 596, doi. 10.1111/tri.13829

By:

Gandolfini, Ilaria;
Zanelli, Paola;
Palmisano, Alessandra;
Salvetti, Daniel;
Parmigiani, Alice;
Maltzman, Jonathan S.;
Labate, Claudia;
Fiaccadori, Enrico;
Cravedi, Paolo;
Maggiore, Umberto

Publication type:

Article

Pantothenate kinase-associated neurodegeneration (PKAN) – a rare clinical entity.

Published in:

Acta Oto-Laryngologica Case Reports, 2016, v. 1, n. 1, p. 90, doi. 10.1080/23772484.2016.1247649

By:

Saha, Appas;
Shabnam, Srushti;
N, Swapna

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

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios.

Published in:

2023

By:

Sakyu, Takuya;
Stover, Samantha R.;
Wang, Yue;
Ward, Patricia;
Gandhi, Manisha;
Braun, Michael C.;
Van den Veyver, Ignatia B.;
Bi, Weimin

Publication type:

Case Study

The first case of deafness‐dystonia syndrome due to compound heterozygous variants in FITM2.

Published in:

Clinical Case Reports, 2018, v. 6, n. 9, p. 1815, doi. 10.1002/ccr3.1719

By:

Shakir, Aamina;
Wadley, Alexandrea F.;
Purcarin, Gabriela;
Wierenga, Klaas J.

Publication type:

Article

Clinical and genetic analyses of a Chinese female with 17α-hydroxylase/17,20-lyase deficiency.

Published in:

Gynecological Endocrinology, 2014, v. 30, n. 12, p. 890, doi. 10.3109/09513590.2014.943721

By:

Shi, Mengte;
Chen, Xiaojun;
Zhou, Qi;
Shen, Feixia

Publication type:

Article