Works matching Wilson disease and genetics

Results: 236

A genetic study of Wilson’s disease in the United Kingdom.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1476, doi. 10.1093/brain/awt035

By:

Coffey, Alison J.;
Durkie, Miranda;
Hague, Stephen;
McLay, Kirsten;
Emmerson, Jennifer;
Lo, Christine;
Klaffke, Stefanie;
Joyce, Christopher J.;
Dhawan, Anil;
Hadzic, Nedim;
Mieli-Vergani, Giorgina;
Kirk, Richard;
Elizabeth Allen, K.;
Nicholl, David;
Wong, Siew;
Griffiths, William;
Smithson, Sarah;
Giffin, Nicola;
Taha, Ali;
Connolly, Sally

Publication type:

Article

A genetic study of Wilson's disease in the United Kingdom.

Published in:

2013

By:

Coffey, Alison J;
Durkie, Miranda;
Hague, Stephen;
McLay, Kirsten;
Emmerson, Jennifer;
Lo, Christine;
Klaffke, Stefanie;
Joyce, Christopher J;
Dhawan, Anil;
Hadzic, Nedim;
Mieli-Vergani, Giorgina;
Kirk, Richard;
Elizabeth Allen, K;
Nicholl, David;
Wong, Siew;
Griffiths, William;
Smithson, Sarah;
Giffin, Nicola;
Taha, Ali;
Connolly, Sally

Publication type:

journal article

Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family.

Published in:

Molecular Biology Reports, 2018, v. 45, n. 6, p. 2585, doi. 10.1007/s11033-018-4426-y

By:

Khan, Haq Nawaz;
Wasim, Muhammad;
Ayesha, Hina;
Awan, Fazli Rabbi

Publication type:

Article

Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7B Gene Mutation at Codon 778 in Southwest Iran.

Published in:

2012

By:

Galehdari, Hamid;
Tangestani, Raheleh

Publication type:

Case Study

A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations.

Published in:

European Journal of Neurology, 2004, v. 11, n. 2, p. 121, doi. 10.1046/j.1351-5101.2003.00729.x

By:

Jumah, M. Al;
Majumdar, R.;
Rajeh, S. Al;
Awada, A.;
Zaben, A. Al;
Traif, I. Al;
Jumah, A. R. Al;
Rehana, Z.

Publication type:

Article

Case report: Co-occurrence of Wilson's and Alexander's diseases revealed by genetic analysis.

Published in:

Frontiers in Neurology, 2025, p. 1, doi. 10.3389/fneur.2025.1514044

By:

Ge, Shufan;
Sun, Lanting;
Wang, Han;
Yang, Wenming;
Xuan, Qiaoyu;
Hua, Daiping

Publication type:

Article

Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.

Published in:

Human Genetics, 2006, v. 120, n. 2, p. 151, doi. 10.1007/s00439-006-0202-5

By:

Ferenci, Peter

Publication type:

Article

Clinical and Genetic Analysis in Neurological Wilson's Disease Patients With Neurological Worsening Following Chelator Therapy.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.875694

By:

Hou, Haiman;
Chen, Dingbang;
Liu, Junxiu;
Feng, Li;
Zhang, Jiwei;
Liang, Xiuling;
Xu, Yuming;
Li, Xunhua

Publication type:

Article

Wilson's Disease—Genetic Puzzles with Diagnostic Implications.

Published in:

Diagnostics (2075-4418), 2023, v. 13, n. 7, p. 1287, doi. 10.3390/diagnostics13071287

By:

Gromadzka, Grażyna;
Bendykowska, Maria;
Przybyłkowski, Adam

Publication type:

Article

ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.

Published in:

Human Genetics, 2020, v. 139, n. 8, p. 1065, doi. 10.1007/s00439-020-02161-3

By:

Wallace, Daniel F.;
Dooley, James S.

Publication type:

Article

Clinical and genetic analysis of pediatric patients with Wilson disease.

Published in:

Turkish Journal of Gastroenterology, 2015, v. 26, n. 5, p. 397, doi. 10.5152/tjg.2015.0097

By:

Papur, Özlenen Şimşek;
Akman, Sezin Aşık;
Terzioğlu, Orhan

Publication type:

Article

Families with Wilson's disease in subsequent generations: Clinical and genetic analysis.

Published in:

Movement Disorders, 2014, v. 29, n. 14, p. 1828, doi. 10.1002/mds.26057

By:

Dzieżyc, Karolina;
Litwin, Tomasz;
Chabik, Grzegorz;
Gramza, Karolina;
Członkowska, Anna

Publication type:

Article

A new treatable genetic disorder of manganese metabolism causing dystonia-parkinsonism and cirrhosis: The 'New' Wilson's disease?

Published in:

Movement Disorders, 2012, v. 27, n. 8, p. 962, doi. 10.1002/mds.25031

By:

Stamelou, Maria;
Bhatia, Kailash P.

Publication type:

Article

Fehldiagnose eines Morbus Wilson trotz positiver Genetik.

Published in:

Der Nervenarzt, 2018, v. 89, n. 12, p. 1408, doi. 10.1007/s00115-018-0506-4

By:

Hermann, W.;
Hennig, C.;
Hoffmann, J.

Publication type:

Article

Correction: Genotype-Phenotype Correlations in a Mountain Population Community with High Prevalence of Wilson’s Disease: Genetic and Clinical Homogeneity.

Published in:: PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102619
Publication type:: Article

Genotype-Phenotype Correlations in a Mountain Population Community with High Prevalence of Wilson’s Disease: Genetic and Clinical Homogeneity.

Published in:

PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0098520

By:

Cocoş, Relu;
Şendroiu, Alina;
Schipor, Sorina;
Bohîlţea, Laurenţiu Camil;
Şendroiu, Ionuţ;
Raicu, Florina

Publication type:

Article

Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 9, p. 564, doi. 10.1038/jhg.2012.65

By:

Hofer, Harald;
Willheim-Polli, Claudia;
Knoflach, Peter;
Gabriel, Christian;
Vogel, Wolfgang;
Trauner, Michael;
Müller, Thomas;
Ferenci, Peter

Publication type:

Article

Genetics of Wilson disease and Wilson‐like phenotype in a clinical series from eastern Spain.

Published in:

Clinical Genetics, 2020, v. 97, n. 5, p. 758, doi. 10.1111/cge.13719

By:

Sánchez‐Monteagudo, Ana;
Álvarez‐Sauco, María;
Sastre, Isabel;
Martínez‐Torres, Irene;
Lupo, Vincenzo;
Berenguer, Marina;
Espinós, Carmen

Publication type:

Article

Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.

Published in:

Journal of Genetics, 2017, v. 96, n. 6, p. 933, doi. 10.1007/s12041-017-0857-9

By:

LE ANH TUAN PHAM;
TRONG TUE NGUYEN;
HOANG BICH NGA LE;
DAT QUOC TRAN;
CAM TU HO;
THINH HUY TRAN;
VAN THANH TA;
THE HUNG BUI;
VAN KHANH TRAN

Publication type:

Article

Clinical and genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1142968

By:

Yanjun Wang;
Jiahui Fang;
Bin Li;
Chongyang Li;
Shan Liu;
Juan He;
Lvyan Tao;
Cuifen Li;
Ya Yang;
Li Li;
Shufang Xiao

Publication type:

Article

GENETIC DISORDERS IN GASTROENTEROLOGY AND HEPATOLOGY ATP7b gene and Wilson's disease.

Published in:

2004

By:

Santhosh, S.;
Shaji, R. V.;
Eapen, C. E.;
Chandy, G. M.

Publication type:

Other

Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis.

Published in:

PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0168372

By:

Todorov, Theodor;
Balakrishnan, Prahlad;
Savov, Alexey;
Socha, Piotr;
Schmidt, Hartmut H. J.

Publication type:

Article

Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 233, doi. 10.1007/s10545-010-9123-5

By:

Weiss, Karl Heinz;
Runz, Heiko;
Noe, Barbara;
Gotthardt, Daniel Nils;
Merle, Uta;
Ferenci, Peter;
Stremmel, Wolfgang;
Füllekrug, Joachim

Publication type:

Article

Genetic studies discover novel coding and non‐coding mutations in patients with Wilson's disease in China.

Published in:

Journal of Clinical Laboratory Analysis, 2022, v. 36, n. 6, p. 1, doi. 10.1002/jcla.24459

By:

Huang, Chenjun;
Fang, Meng;
Xiao, Xiao;
Gao, Zhiyuan;
Wang, Ying;
Gao, Chunfang

Publication type:

Article

Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 405, doi. 10.1002/mgg3.297

By:

Zarina, Agnese;
Tolmane, Ieva;
Kreile, Madara;
Chernushenko, Aleksandrs;
Cernevska, Gunta;
Pukite, Ieva;
Micule, Ieva;
Krumina, Zita;
Krumina, Astrida;
Rozentale, Baiba;
Piekuse, Linda

Publication type:

Article

OPHTHALMOLOGIC AND GENETIC ASPECTS OF WILSON'S DISEASE.

Published in:

Acta Ophthalmologica (1755375X), 1973, v. 51, n. 3, p. 383, doi. 10.1111/j.1755-3768.1973.tb06016.x

By:

KARMA, ANNI

Publication type:

Article

The treatment of Wilson's disease, a rare genetic disorder of copper metabolism.

Published in:

Science Progress, 2013, v. 96, n. 1, p. 19, doi. 10.3184/003685013X13587771579987

By:

Purchase, Rupert

Publication type:

Article

From Wilson's Disease to Neurodevelopmental Disorder with Involuntary Movements, Different Genetic Interpretations in a Female Patient.

Published in:

Movement Disorders, 2024, v. 39, n. 10, p. 1878, doi. 10.1002/mds.29930

By:

Jin, Shan;
Sun, Zhengzhe;
Fang, Xiang;
Yang, Wenming;
Fang, Shuzhen;
Zhang, Jing

Publication type:

Article

A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment.

Published in:

Biomedicines, 2023, v. 11, n. 2, p. 420, doi. 10.3390/biomedicines11020420

By:

Penning, Louis C.;
Berenguer, Marina;
Czlonkowska, Anna;
Double, Kay L.;
Dusek, Petr;
Espinós, Carmen;
Lutsenko, Svetlana;
Medici, Valentina;
Papenthin, Wiebke;
Stremmel, Wolfgang;
Willemse, Jose;
Weiskirchen, Ralf

Publication type:

Article

The dilemma to diagnose Wilson disease by genetic testing alone.

Published in:

European Journal of Clinical Investigation, 2019, v. 49, n. 8, p. N.PAG, doi. 10.1111/eci.13147

By:

Stättermayer, Albert Friedrich;
Entenmann, Andreas;
Gschwantler, Michael;
Zoller, Heinz;
Hofer, Harald;
Ferenci, Peter

Publication type:

Article

Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation.

Published in:

Annals of Neurosciences, 2024, v. 31, n. 4, p. 277, doi. 10.1177/09727531241286272

By:

Kumar, Mukesh;
Aliyar, Aminu;
Saini, Arti;
Sivasubbu, Sridhar;
Scaria, Vinod;
Radhakrishnan, Divya M;
Rajan, Roopa;
BK, Binukumar

Publication type:

Article

Wilson's Disease: Clinical, Genetic and Pharmacological Findings.

Published in:

International Journal of Immunopathology & Pharmacology, 2005, v. 18, n. 1, p. 7, doi. 10.1177/039463200501800102

By:

Leggio, L.;
Addolorato, G.;
Abenavoli, L.;
Gasbarrini, G.

Publication type:

Article

Wilson’s Disease Suspected to Involve a Novel Genetic Mutation of ATP7B Gene, Requiring a Differential Diagnosis with Non-alcoholic Steatohepatitis.

Published in:

Internal Medicine, 2025, v. 64, n. 3, p. 375, doi. 10.2169/internalmedicine.3673-24

By:

Masami Minemura;
Rei Fukuda;
Kazuto Tajiri;
Nozomu Muraishi;
Aiko Murayama;
Yuka Hayashi;
Terumi Takahara;
Akira Noguchi;
Ichiro Yasuda

Publication type:

Article

Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.

Published in:

2011

By:

Abdel Ghaffar, Tawhida Y;
Elsayed, Solaf M;
Elnaghy, Suzan;
Shadeed, Ahmed;
Elsobky, Ezzat S;
Schmidt, Hartmut

Publication type:

journal article

Phenotypic and Genetic Characterization of a Cohort of Pediatric Wilson Disease Patients.

Published in:

BMC Pediatrics, 2011, v. 11, n. 1, p. 56, doi. 10.1186/1471-2431-11-56

By:

Ghaffar, Tawhida Y. Abdel;
Elsayed, Solaf M.;
Elnaghy, Suzan;
Shadeed, Ahmed;
Elsobky, Ezzat S.;
Schmidt, Hartmut

Publication type:

Article

Phenotypic and Genetic Characterization of a Cohort of Pediatric Wilson Disease Patients.

Published in:

BMC Pediatrics, 2011, v. 11, n. 1, p. 56, doi. 10.1186/1471-2431-11-56

By:

Abdel Ghaffar, Tawhida Y.;
Elsayed, Solaf M.;
Elnaghy, Suzan;
Shadeed, Ahmed;
Elsobky, Ezzat S.;
Schmidt, Hartmut

Publication type:

Article

High genetic carrier frequency of Wilson’s disease in France: discrepancies with clinical prevalence.

Published in:

BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0660-3

By:

Collet, Corinne;
Laplanche, Jean-Louis;
Page, Justine;
Morel, Hélène;
Woimant, France;
Poujois, Aurélia

Publication type:

Article

Genetic landmarks through philately: Woodrow Wilson ‘Woody’ Guthrie and Huntington disease.

Published in:

Clinical Genetics, 2002, v. 61, n. 4, p. 263, doi. 10.1034/j.1399-0004.2002.610404.x

By:

Innes, AM;
Chudley, AE

Publication type:

Article

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Published in:

PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0215779

By:

Singh, Nivedita;
Kallollimath, Pradeep;
Shah, Mohd Hussain;
Kapoor, Saketh;
Bhat, Vishwanath Kumble;
Viswanathan, Lakshminarayanapuram Gopal;
Nagappa, Madhu;
Bindu, Parayil S.;
Taly, Arun B.;
Sinha, Sanjib;
Kumar, Arun

Publication type:

Article

Wilson's Disease—Crossroads of Genetics, Inflammation and Immunity/Autoimmunity: Clinical and Molecular Issues.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 9034, doi. 10.3390/ijms25169034

By:

Gromadzka, Grażyna;
Czerwińska, Julia;
Krzemińska, Elżbieta;
Przybyłkowski, Adam;
Litwin, Tomasz

Publication type:

Article

Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.

Published in:

BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-024-05045-x

By:

Zhang, Tianhe;
Song, Wenliang;
Mao, Zhiqin

Publication type:

Article

Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France.

Published in:

2021

By:

Couchonnal, Eduardo;
Lion-François, Laurence;
Guillaud, Olivier;
Habes, Dalila;
Debray, Dominique;
Lamireau, Thierry;
Broué, Pierre;
Fabre, Alexandre;
Vanlemmens, Claire;
Sobesky, Rodolphe;
Gottrand, Frederic;
Bridoux-Henno, Laure;
Dumortier, Jérôme;
Belmalih, Abdelouahed;
Poujois, Aurelia;
Jacquemin, Emmanuel;
Brunet, Anne Sophie;
Bost, Muriel;
Lachaux, Alain

Publication type:

journal article

Living related liver transplantation from heterozygote genetic carriers to children with Wilson’s disease.

Published in:

Pediatric Transplantation, 1999, v. 3, n. 3, p. 201, doi. 10.1034/j.1399-3046.1999.00014.x

By:

Asonuma, K.;
Inomata, Y.;
Kasahara, M.;
Uemoto, S.;
Egawa, H.;
Fujita, S.;
Kiuchi, T.;
Hayashi, M.;
Tanaka, K.

Publication type:

Article

Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.

Published in:

Translational Neurodegeneration, 2022, v. 11, n. 1, p. 1, doi. 10.1186/s40035-022-00287-0

By:

Zhang, Shijie;
Yang, Wenming;
Li, Xiang;
Pei, Pei;
Dong, Ting;
Yang, Yue;
Zhang, Jing

Publication type:

Article

Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.

Published in:

Translational Neurodegeneration, 2022, v. 11, n. 1, p. 1, doi. 10.1186/s40035-022-00287-0

By:

Zhang, Shijie;
Yang, Wenming;
Li, Xiang;
Pei, Pei;
Dong, Ting;
Yang, Yue;
Zhang, Jing

Publication type:

Article

Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment.

Published in:

2015

By:

Boga, Salih;
Jain, Dhanpat;
Schilsky, Michael L.

Publication type:

Case Study

Diagnosis of Wilson Disease in Young Children: Molecular Genetic Testing and a Paradigm Shift from the Laboratory Diagnosis.

Published in:

Pediatric Gastroenterology, Hepatology & Nutrition, 2012, v. 15, n. 4, p. 197, doi. 10.5223/pghn.2012.15.4.197

By:

Jeong Kee Seo

Publication type:

Article

Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.

Published in:

Journal of Gastroenterology, 2021, v. 56, n. 1, p. 78, doi. 10.1007/s00535-020-01745-0

By:

García-Villarreal, Luis;
Hernández-Ortega, Andrea;
Sánchez-Monteagudo, Ana;
Peña-Quintana, Luis;
Ramírez-Lorenzo, Teresa;
Riaño, Marta;
Moreno-Pérez, Raquel;
Monescillo, Alberto;
González-Santana, Daniel;
Quiñones, Ildefonso;
Sánchez-Villegas, Almudena;
Olmo-Quintana, Vicente;
Garay-Sánchez, Paloma;
Espinós, Carmen;
González, Jesús M.;
Tugores, Antonio

Publication type:

Article

Genetic heterogeneity in Wilson disease: Lessons from rare alleles.

Published in:

1997

By:

Pyeritz, Reed Edwin

Publication type:

Editorial

From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia.

Published in:

Russian Journal of Genetics, 2008, v. 44, n. 10, p. 1195, doi. 10.1134/S1022795408100086

By:

Krumina, A.;
Keiss, J.;
Sondore, V.;
Chernushenko, A.;
Cernevska, G.;
Zarina, A.;
Micule, I.;
Piekuse, L.;
Kreile, M.;
Lace, B.;
Krumina, Z.;
Rozentale, B.

Publication type:

Article