Works matching DE "MEDICAL genetics"

Results: 5000

Differences in kidney prognosis between congenital and infantile nephrotic syndrome.

Published in:

Pediatric Nephrology, 2025, v. 40, n. 8, p. 2539, doi. 10.1007/s00467-025-06735-z

By:

Inoki, Yuta;
Horinouchi, Tomoko;
Aoyama, Shuhei;
Kimura, Yuka;
Ichikawa, Yuta;
Tanaka, Yu;
Ueda, Chika;
Kitakado, Hideaki;
Kondo, Atsushi;
Sakakibara, Nana;
Kamei, Koichi;
Hamada, Riku;
Fujita, Naoya;
Gotoh, Yoshimitsu;
Kaku, Yoshitsugu;
Nishiyama, Kei;
Okamoto, Takayuki;
Toya, Yukiko;
Yamamura, Tomohiko;
Ishimori, Shingo

Publication type:

Article

Role of Genetic Factors in Vascular Access Thrombosis in Hemodialysis Patients.

Published in:

Hemodialysis International, 2004, v. 8, n. 1, p. 81, doi. 10.1111/j.1492-7535.2004.0085k.x

By:

Özdemir, F. N.;
Atac, F. B.;
Akçay, A.;
Ozbek, N.;
Haberal, M.

Publication type:

Article

A measure of the performance of biomarkers for disease.

Published in:

Cancer Biomarkers, 2006, v. 2, n. 3/4, p. 145, doi. 10.3233/CBM-2006-23-406

By:

Saunders, Ian W.

Publication type:

Article

My 25 Stimulating Years with DBS in Parkinson's Disease.

Published in:

Journal of Parkinson's Disease, 2017, v. 7, p. S35, doi. 10.3233/JPD-179007

By:

Hariz, Marwan

Publication type:

Article

The MPTP Story.

Published in:

Journal of Parkinson's Disease, 2017, v. 7, p. S11, doi. 10.3233/JPD-179006

By:

Langston, J. William

Publication type:

Article

Genetic Susceptibility of Impulse Control and Related Behavior in Parkinson's Disease.

Published in:

Journal of Parkinson's Disease, 2014, v. 4, n. 2, p. 261, doi. 10.3233/JPD-130292

By:

Kim, Young Eun;
Jeon, Beom S.

Publication type:

Article

Highlighting the different facets of SMC1A truncating variants: Two patients with novel SMC1A pathogenic variants.

Published in:

Epileptic Disorders, 2025, v. 27, n. 1, p. 114, doi. 10.1002/epd2.20306

By:

Amllal, Nada;
Lyahyai, Jaber;
Afif, Lamiae;
Kriouile, Yamna;
Sefiani, Abdelaziz;
Elalaoui, Siham Chafai

Publication type:

Article

Mosaic CLTC pathogenic variant causing focal epilepsy with normal intelligence.

Published in:

Epileptic Disorders, 2024, v. 26, n. 6, p. 875, doi. 10.1002/epd2.20270

By:

Sveistrup, Michelle A.;
Myers, Kenneth A.

Publication type:

Article

DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature.

Published in:

Epileptic Disorders, 2024, v. 26, n. 3, p. 341, doi. 10.1002/epd2.20223

By:

Gu, Chunyu;
Wei, Xinping;
Yan, Dandan;
Cai, Yingzi;
Li, Dong;
Shu, Jianbo;
Cai, Chunquan

Publication type:

Article

A novel GRIN2B variant (p.F1340V) causes a severe neurodevelopmental disorder with refractory epileptic spasms.

Published in:

Epileptic Disorders, 2024, v. 26, n. 3, p. 395, doi. 10.1002/epd2.20210

By:

Kolosky, Taylor;
Erdemir, Gozde

Publication type:

Article

Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.

Published in:

Odontology, 2025, v. 113, n. 3, p. 1239, doi. 10.1007/s10266-024-01036-7

By:

Demir, Kübra;
Güleç, Çağrı;
Aslanger, Ayça;
Öztürk, Ayşe Pınar;
Özsait Selçuk, Bilge;
Tuna İnce, Elif Bahar;
Toksoy, Güven

Publication type:

Article

The role of MBD2 in immune cell development, function, and autoimmune diseases.

Published in:

Cell Death Discovery, 2025, v. 11, n. 1, p. 1, doi. 10.1038/s41420-025-02563-0

By:

Zhang, Yunfei;
Fan, Yufeng;
Hu, Ying;
Wang, Xiaocui;
Wen, Bin;
Duan, Xuemei;
Li, Haonan;
Dong, Shumin;
Yan, Ze;
Zhang, Weiwei;
Jing, Yukai

Publication type:

Article

The role of MBD2 in immune cell development, function, and autoimmune diseases.

Published in:

Cell Death Discovery, 2025, v. 11, n. 1, p. 1, doi. 10.1038/s41420-025-02563-0

By:

Zhang, Yunfei;
Fan, Yufeng;
Hu, Ying;
Wang, Xiaocui;
Wen, Bin;
Duan, Xuemei;
Li, Haonan;
Dong, Shumin;
Yan, Ze;
Zhang, Weiwei;
Jing, Yukai

Publication type:

Article

Proteome-wide association studies using summary pQTL data of brain, CSF, and plasma identify 30 risk genes of Alzheimer's disease dementia.

Published in:

Alzheimer's Research & Therapy, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13195-025-01774-y

By:

Hu, Tingyang;
Liu, Qiang;
Dai, Qile;
Buchman, Aron S.;
Bennett, David A.;
Tasaki, Shinya;
Wang, Yanling;
Seyfried, Nicholas T.;
De Jager, Philip L.;
Epstein, Michael P.;
Yang, Jingjing

Publication type:

Article

Role and Validation of Lactylation-Related Gene Markers in Postmenopausal Osteoporosis.

Published in:

Applied Biochemistry & Biotechnology, 2025, v. 197, n. 6, p. 3982, doi. 10.1007/s12010-025-05216-1

By:

Fuzhu Tan;
Cui, Xinmei;
Ren, Shujun;
Zhang, Yu

Publication type:

Article

Uniparental disomy (UPD) as the cause of inconsistencies in parentage tests: report of maternal UPD of chromosome 2 and review of the literature.

Published in:

International Journal of Legal Medicine, 2025, v. 139, n. 4, p. 1575, doi. 10.1007/s00414-025-03428-y

By:

Fridman, Cintia;
Batista, João Paulo Gervasio;
Bianchini, Pamela Viana;
Batistutti, Vanessa Procópio;
de Sá Osório, Paulo;
de Mello Andrade, Laura;
Levi, José Eduardo;
Krepischi, Ana Cristina Victorino;
Villela, Darine;
Rosenberg, Carla

Publication type:

Article

Exploring transcriptomic signatures in sudden unexplained death (SUD) cases.

Published in:

International Journal of Legal Medicine, 2025, v. 139, n. 4, p. 1477, doi. 10.1007/s00414-025-03414-4

By:

Neubauer, Jacqueline;
Dørum, Guro;
Haas, Cordula

Publication type:

Article

The indispensable role of Mediator complex subunit 27 during neurodevelopment.

Published in:

Cell & Bioscience, 2025, v. 15, n. 1, p. 1, doi. 10.1186/s13578-025-01425-7

By:

Li, Xiaocheng;
Yiliyaer, Nuermila;
Guo, Tianyu;
Zhao, Hui;
Lei, Yong;
Gu, Shen

Publication type:

Article

A review of the efficacy of clinical tuberculosis vaccine candidates in mouse models.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1609136

By:

del Pozo-Ramos, Lidia;
Kupz, Andreas

Publication type:

Article

Identification and functional characteristics of a novel splice site variant in L1CAM caused X-linked hydrocephalus.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1588709

By:

Zhou, Shijie;
Zhang, Hao;
Li, Xue;
Chen, Quan;
Xu, Zhihong

Publication type:

Article

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02031-6

By:

Noureldeen, Mahmoud M.;
Zaki, Maha S.;
Rafat, Karima;
Abdel-Hamid, Mohamed S.;
Salem, Aida M. S.

Publication type:

Article

Advancing omics technologies in acute respiratory distress syndrome: paving the way for personalized medicine.

Published in:

Intensive Care Medicine Experimental, 2025, v. 13, n. 1, p. 1, doi. 10.1186/s40635-025-00766-4

By:

Al-Husinat, Lou'i;
Araydah, Mohammad;
Al Sharie, Sarah;
Azzam, Saif;
Battaglini, Denise;
Alrababah, Arqam;
Haddad, Rana;
Al-Asad, Khaled;
Dos Santos, Claudia C.;
Schultz, Marcus J.;
Cruz, Fernanda F.;
Silva, Pedro L.;
Rocco, Patricia R. M.

Publication type:

Article

Hereditary Ectodermal Dysplasia -- A Rare Entity.

Published in:

Journal of the Indian Academy of Clinical Medicine, 2025, v. 26, n. 1/2, p. 77

By:

Ram, Ragini;
Rajeshwari, K.

Publication type:

Article

A multi-omics prognostic model of cuproptosis affects the prognosis of stomach adenocarcinoma.

Published in:

Clinical Epigenetics, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13148-025-01894-0

By:

Wu, Yinying;
Fan, Yangwei;
Dong, Xuyuan;
Dong, Danfeng;
Shi, Yu;
Wang, Meichen;
Wang, Jia;
Yang, Yuqian;
Yang, Nan;
Ou, Fengyun;
Li, Enxiao

Publication type:

Article

A novel missense pathogenic variant c.9455T > G (p.L3152R) in CDH23 underlies autosomal recessive non-syndromic hearing loss.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00730-7

By:

Sadeghian, Ladan;
Hoseinzadeh, Marziyeh;
Pourreza, Mohammad reza;
Khalili, Saeed;
Fattahi, Najmeh;
Tabatabaiefar, Mohammad Amin

Publication type:

Article

Identification of novel genetic mutations for the treatment prognostication of canine lymphoma.

Published in:

NPJ Precision Oncology, 2025, v. 9, n. 1, p. 1, doi. 10.1038/s41698-025-00988-5

By:

Tsang, Josephine;
Yap, Qi Jing;
Kapoor, Sheena;
Cromarty, Jerry;
Sen, Sushmita;
Kim, Minji;
Courcoubetis, George;
Cho, Suhyeon;
Swartzfager, Deanna;
Park, Stanley;
Lim, Sungwon;
Holcomb, Ilona;
Koo, Jamin

Publication type:

Article

Effects of Interleukin 6 (rs1800795) and Other Proinflammatory Interleukins Gene Polymorphisms in Periodontal Diseases: A Brief Review.

Published in:

European Journal of Research in Dentistry, 2025, v. 9, n. 1, p. 71, doi. 10.29228/erd.96

By:

İn, Gözde

Publication type:

Article

Majeed syndrome: first description in a patient of central-European ancestry Open Access.

Published in:

Rheumatology, 2025, v. 64, n. 5, p. 3069, doi. 10.1093/rheumatology/keae480

By:

Drago, Enrico;
Bertoni, Arinna;
Grossi, Alice;
Damasio, Maria Beatrice;
Anfigeno, Lorenzo;
Miano, Maurizio;
Papa, Riccardo;
Volpi, Stefano;
Ceccherini, Isabella;
Gattorno, Marco;
Caorsi, Roberta

Publication type:

Article

Advances in Management of Mitochondrial Myopathies.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5411, doi. 10.3390/ijms26115411

By:

Bangeas, Athanasios;
Poulidou, Vasiliki;
Liampas, Ioannis;
Marogianni, Chrysa;
Aloizou, Athina-Maria;
Tsouris, Zisis;
Sgantzos, Markos;
Arnaoutoglou, Marianthi;
Bogdanos, Dimitrios P.;
Dardiotis, Efthimios;
Siokas, Vasileios

Publication type:

Article

Mutation spectrum and clinical features of MYORG in Iranian patients with Primary Familial Brain Calcification (PFBC).

Published in:

Neurological Sciences, 2025, v. 46, n. 7, p. 3249, doi. 10.1007/s10072-025-08105-x

By:

Soleimani, Parsa;
Khojasteh, Mana;
Ghasemi, Aida;
Heshmati, Ali;
Rohani, Mohammad;
Alavi, Afagh

Publication type:

Article

The Human Genome and COVID-19.

Published in:

Russian Journal of Genetics, 2025, v. 61, n. 5, p. 491, doi. 10.1134/S1022795425700012

By:

Stepanov, V. A.;
Yankovsky, N. K.

Publication type:

Article

Genetic and epigenetic components involved in the crossroads of periodontitis and common cancer types associated with periodontitis.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00727-2

By:

Priyadharsini, Jayaseelan Vijayashree;
Pandi, Anitha;
Kannan, Balachander;
Paramasivam, Arumugam;
Gopalakrishnan, Sivakumar;
Anandhan, Anu Swedha

Publication type:

Article

The International Society of Nurses in Genetics (ISONG) 2024 World Congress: Generating Waves: Advancing Implementing Strategies from the Foundation of Genomic Nursing.

Published in:

2025

By:

Seven, Memnun;
Daack-Hirsch, Sandra

Publication type:

Editorial

Association of Renin–Angiotensin Pathway Gene Polymorphisms with COVID-19 Susceptibility and Severity in Moroccans: A Case–Control Study.

Published in:

Biochemical Genetics, 2025, v. 63, n. 3, p. 2225, doi. 10.1007/s10528-024-10813-6

By:

El Yousfi, Fatima-Zahra;
El Hilali, Samia;
Belayachi, Jihane;
Ennibi, Khalid;
Razine, Rachid;
Abouqal, Redouane;
Bouhouche, Ahmed

Publication type:

Article

Identification of Hub Genes in Liver Hepatocellular Carcinoma Based on Weighted Gene Co-expression Network Analysis.

Published in:

Biochemical Genetics, 2025, v. 63, n. 3, p. 2120, doi. 10.1007/s10528-024-10803-8

By:

Sun, Jiawei;
Zhang, Zizhen;
Cai, Jiaru;
Li, Xiaoping;
Xu, Xiaoling

Publication type:

Article

Rewired m6A of promoter antisense RNAs in Alzheimer's disease regulates neuronal genes in 3D nucleome.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-60378-0

By:

Hu, Benxia;
Shi, Yuqiang;
Xiong, Feng;
Chen, Yi-Ting;
Zhu, Xiaoyu;
Carrillo, Elisa;
Wen, Xingzhao;
Drolet, Nathan;
Rajpurohit, Chetan Singh;
Xu, Xiangmin;
Lee, Dung-Fang;
Soto, Claudio;
Zhong, Sheng;
Jayaraman, Vasanthi;
Zheng, Hui;
Li, Wenbo

Publication type:

Article

Metagenomic insights into the complex viral composition of the enteric RNA virome in healthy and diarrheic calves from Ethiopia.

Published in:

Virology Journal, 2025, v. 22, n. 1, p. 1, doi. 10.1186/s12985-025-02821-8

By:

Bergholm, Julia;
Tessema, Tesfaye Sisay;
Blomström, Anne-Lie;
Berg, Mikael

Publication type:

Article

The interplay between driver mutation and oxidative stress in colorectal cancer: from pathogenesis to therapeutics.

Published in:

Journal of Translational Medicine, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12967-025-06640-x

By:

Huang, Qi;
Jing, Yuan;
Xiong, Lihua;
Li, Lei;
Feng, Jingjuan;
Cheng, Jian

Publication type:

Article

Genomic landscape of nosocomial Acinetobacter baumannii: A comprehensive analysis of the resistome, virulome, and mobilome.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-03246-7

By:

Pearl, Sara;
Anbarasu, Anand

Publication type:

Article

Transcriptional reprogramming in oral squamous cell carcinoma.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-01364-w

By:

Cheng, Xianyang;
Shen, Shan

Publication type:

Article

Single-cell chromatin accessibility profiling reveals regulatory mechanisms and evolution in pig brains.

Published in:

BMC Biology, 2025, v. 23, n. 1, p. 1, doi. 10.1186/s12915-025-02263-2

By:

Xiang, Yue;
Zhang, Saixian;
Huang, Yi;
Zheng, Zhuqing;
Sun, Jiahui;
Zhao, Qiulin;
Zhou, Peng;
Qi, Xiaolong;
Li, Jingjin;
Xiong, Fuyang;
Xu, Jing;
Wang, Shengquan;
Fu, Liangliang;
Li, Xinyun

Publication type:

Article

The EGR1-mediated lncRNA TENM3-AS1 potentiates gastric cancer metastasis via reprogramming fatty acid metabolism.

Published in:

Molecular Cancer, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12943-025-02341-7

By:

Tang, Yuhui;
Zhao, Baiwei;
Wang, Wanchuan;
Chen, Haoming;
Zhang, Junsheng;
Xie, Yi;
Chen, Yongming;
Lin, Feizhi;
Li, Yuanfang;
Zhai, Xiaohui;
Zhou, Wen

Publication type:

Article

The diagnostic yield of molecular karyotyping: a retrospective single-center study.

Published in:

Croatian Medical Journal, 2025, v. 66, n. 2, p. 92, doi. 10.3325/cmj.2025.66.92

By:

Göktaş, Emine;
Arslan, Ahmet Burak;
Turan, Betül;
Altındaş, Betül Okur;
Zamani, Ayşe Gül;
Yıldırım, Mahmut Selman

Publication type:

Article

Exploring the genetic components and multi-omics sources of inflammatory bowel disease from the perspective of autoimmune disorders.

Published in:

Clinical Rheumatology, 2025, v. 44, n. 6, p. 2527, doi. 10.1007/s10067-025-07422-y

By:

Wang, Zhonghai;
Chen, Xin;
Zhang, Quan-Bo;
Wang, Han

Publication type:

Article

COMPARISON OF CHROMOSOME ANALYSIS, FACTOR V LEIDEN, AND PROTHROMBIN G20210A MUTATION RESULTS ACCORDING TO THE NUMBER OF PREGNANCY LOSSES IN RECURRENT PREGNANCY LOSS.

Published in:

Meandros Medical & Dental Journal, 2025, v. 26, n. 1, p. 56, doi. 10.69601/meandrosmdj.1570237

By:

ÖZKALAYCI, Hande;
KOCABEY, Mehmet

Publication type:

Article

Novel compound heterozygous mutation in DNAH9 causes complex congenital heart diseaseDNAH9 causes complex congenital heart disease.

Published in:

Molecular Medicine Reports, 2025, v. 32, n. 1, p. N.PAG, doi. 10.3892/mmr.2025.13563

By:

Liu, Xiao;
Zhou, Jing‑Lin;
Yang, Cheng-Ying;
Zhou, Hai-Yan;
He, Wen-Bin;
Yang, Jing

Publication type:

Article

Editorial: A year in review: discussions in human and medical genomics.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1618183

By:

Freidin, Maxim B.;
Roach, Jared C.

Publication type:

Article

A Transcriptomic Dataset of Embryonic Murine Telencephalon of Fmr1-Deficient Mice.

Published in:

Scientific Data, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41597-025-05104-7

By:

Ebrahimiazar, Sara;
Kikkawa, Takako;
Minakuchi, Yohei;
Miyashita, Satoshi;
Manabe, Shyu;
Hoshino, Mikio;
Toyoda, Atsushi;
Osumi, Noriko

Publication type:

Article

Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.

Published in:

Frontiers in Oncology, 2025, p. 1, doi. 10.3389/fonc.2025.1568205

By:

Rodriguez-Salamanca, Juliana;
Angulo-Aguado, Mariana;
Orjuela-Amarillo, Sarah;
Duque, Catalina;
Sierra-Díaz, Diana Carolina;
Contreras Bravo, Nora;
Figueroa, Carlos;
Restrepo, Carlos M.;
López-Cortés, Andrés;
Cabrera, Rodrigo;
Morel, Adrien;
Fonseca-Mendoza, Dora Janeth

Publication type:

Article

Influence of genetic factors of humans, mosquitoes and parasites, on the evolution of Plasmodium falciparum infections, malaria transmission and genetic control methods: a review of the literature.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02165-w

By:

Nikiema, Seni;
Soulama, Issiaka;
Ampofo, Gifty Dufie;
Nikiema, Moustapha;
Zouré, Abdou Azaque;
Sombié, Salif;
Sawadogo, Salam;
Ouedraogo, Nicolas;
Sermé, Samuel Sindie;
Sawadogo, Haffsatou;
Ily, Raïssa;
Tibiri, Guillène Y. N.;
Zouré, Djamila O. A.;
Yanogo, Nassandba Julien;
Kaboré, Farida C. A.;
Tchekounou, Chanolle;
Zida, Adama;
Tao, Issoufou;
Ouedraogo, Oumarou;
Zongo, Dramane

Publication type:

Article