Works matching DE "GENETIC disorders"

Results: 5000

An international questionnaire highlights and supports the case for including girls in Creatine Transporter Deficiency research.

Published in:

Frontiers in Neuroscience, 2025, p. 1, doi. 10.3389/fnins.2025.1620586

By:

Chehowah, Carole;
Mittelman, Audrey;
des Portes, Vincent

Publication type:

Article

Living with PTEN hamartoma tumour syndrome: Jenna's story.

Published in:

British Journal of Dermatology, 2025, v. 193, n. 2, p. 323, doi. 10.1093/bjd/ljaf146

By:

Pollard, Jenna;
Muralidharan, Vijaytha;
Eid, Dalia;
Stone, Natalie

Publication type:

Article

Morphological analysis of peritoneal fluid in fumarate hydratase deficiency-associated renal cell carcinoma: a case report.

Published in:

2025

By:

Du, Yingying;
Shang, Yu;
Shi, Chang

Publication type:

Case Study

RIPK4-mediated MFN2 degradation drives osteogenesis through mitochondrial fragmentation and restricts myelopoiesis by blocking mitochondrial transfer.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-61808-9

By:

Ding, Peng;
Wang, Xing;
Gao, Chuan;
Wei, Yuehan;
Li, Gan;
Zhu, Wenlei;
Wang, Ni;
Fu, Wan;
Fang, Qihang;
Yao, Meng;
Huang, Yigang;
Jiang, Chenyi;
Gao, Youshui;
Zhang, Jing;
Gao, Junjie;
Zhong, Qing;
Zhang, Changqing

Publication type:

Article

Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00512-5

By:

Yang, Zeyu;
Shikany, Amy;
Husami, Ammar;
Wang, Xinjian;
Mendonca, Eneida;
Nicole Weaver, K.;
Chen, Jing

Publication type:

Article

Infant with Refractory Seizures and Characteristic Diffusion Restriction Pattern on Neuroimaging.

Published in:

Canadian Journal of Neurological Sciences, 2025, v. 52, n. 4, p. 716, doi. 10.1017/cjn.2024.329

By:

Yoganathan, Sangeetha;
Krishnan, Pradeep;
Shroff, Manohar;
AlQahtani, Mohammed;
Parthasarathy, Prasiddha;
Chau, Vann;
Guilder, Laura;
Costain, Gregory;
Gorodetsky, Carolina;
Jain, Puneet

Publication type:

Article

Kabuki patients with CHDs: outcomes after cardiac surgery.

Published in:

Cardiology in the Young, 2025, v. 35, n. 4, p. 722, doi. 10.1017/S1047951125000435

By:

Lam, Regina W.;
Haro, Victoria;
Tabbutt, Sarah;
Kinami, Hiroo;
Reddy, V. Mohan;
Kim, Minso

Publication type:

Article

Tetralogy of Fallot with absent pulmonary valve and 22q11.2 deletion syndrome.

Published in:

2025

By:

Krasnanova, Veronika;
Olejnik, Peter;
Kovacikova, Lubica

Publication type:

Case Study

Unmasking the Unexpected: FIG4‐Related Disorder Presenting with Progressive Supranuclear Palsy‐Like Features.

Published in:

Movement Disorders Clinical Practice, 2025, v. 12, n. 7, p. 1017, doi. 10.1002/mdc3.70037

By:

Retailleau, Émilie;
Kahwagi, George‐Junior;
Obadia, Alexandre;
Philibert, Manon;
Patte‐Karsenti, Nathalie;
Brandel, Jean‐Philippe;
Desjardins, Clément

Publication type:

Article

Current and future precision therapy approaches in the long QT syndrome.

Published in:

Medizinische Genetik, 2025, v. 37, n. 3, p. 189, doi. 10.1515/medgen-2025-2015

By:

Nimani MD, PhD, Saranda;
Barbieri, Miriam;
Rieder, Marina;
Odening MD, Katja E.

Publication type:

Article

OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden.

Published in:

Frontiers in Human Neuroscience, 2025, p. 1, doi. 10.3389/fnhum.2025.1589897

By:

Bagatelas, Elena D.;
Khan, Maahin Manzoor;
Rushing, Gabrielle V.

Publication type:

Article

Alpha-synuclein null mutation exacerbates the phenotype of a model of Menkes disease in female mice.

Published in:

Frontiers in Neuroscience, 2025, p. 1, doi. 10.3389/fnins.2025.1613171

By:

Casey, MegAnne;
Zou, Dan;
Reijo Pera, Renee A.;
Hensley-McBain, Tiffany;
Cabin, Deborah E.

Publication type:

Article

A Case of Gitelman Syndrome Complicated by Growth Hormone Deficiency.

Published in:

Clinical Laboratory, 2025, v. 71, n. 7, p. 1352, doi. 10.7754/Clin.Lab.2025.241246

By:

Guanwu Lu;
Xiaoyu Liang;
Tingguan Huang;
Guansheng Wu

Publication type:

Article

REVIEW OF GENETIC STUDIES OF MASTIF-LIKE DOG BREEDS.

Published in:

Eurasian Journal of Ecology, 2025, v. 83, n. 2, p. 186, doi. 10.26577/EJE2025832015

By:

Mit, N. V.;
Zhunussova, G. S.;
Amirgaliyeva, A. S.;
Bespalova, K. B.;
Perfilyeva, A. V.;
Seisenova, Zh. M.

Publication type:

Article

DESAFIOS NO MANEJO DA DOENÇA FALCIFORME: ATUAÇÃO MULTIPROFISSIONAL NO CONTEXTO DA SAÚDE PÚBLICA.

Published in:

Revista Foco (Interdisciplinary Studies Journal), 2025, v. 18, n. 6, p. 1, doi. 10.54751/revistafoco.v18n6-179

By:

Fechine Honorato, Pedro;
Costa Nascimento, Bruno;
Souza Sales, Antonio Jamelli;
Farias Neto, Luis Eufrásio;
Fernandes de Aragão, Maria Alice;
Lima de Aguiar, Dalila Shenida;
Cipriano Coelho, Andreza;
Bezerra Cordeiro, Tiago Laio

Publication type:

Article

Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00318-y

By:

Ochiai, Kayo;
Aoki, Yoshinori;
Yamada, Naoshi;
Aman, Murasaki;
Yamashita, Atsushi;
Yamaguchi, Masatoshi;
Nakato, Daisuke;
Takenouchi, Toshiki;
Kosaki, Kenjiro;
Kodama, Yuki;
Moritake, Hiroshi

Publication type:

Article

Reply: Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 7, p. e61, doi. 10.1093/brain/awaf065

By:

Brunklaus, Andreas

Publication type:

Article

It's 'genetic roulette' and Nigel Laing isn't playing.

Published in:

Medicus, 2025, p. 44

By:

Saxon, Martin

Publication type:

Article

Unveiling a rare genetic aberration: A case study of Prader-Willi syndrome (PWS) wth atypical 15q11.2-q13.3 deletion.

Published in:

Genetics & Applications, 2025, v. 9, n. 1, p. 1, doi. 10.31383/ga.vol9iss1ga04

By:

Ramalingam, Sentilraja;
Srividya, Ganapathy;
Jayaswathi, Kanchepalli;
Jayaraj, Vani;
Mariyappa, Mani

Publication type:

Article

Rubinstein Taybi syndrome caused by EP300 gene mutation: what we learned from two cases and literature review.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1588657

By:

Wang, Yefeng;
Wu, Xinghan;
Zhao, Sha;
Xu, Ningan

Publication type:

Article

Integrating multi-omics and machine learning strategies to explore the "gene-protein-metabolite" network in ischemic heart failure with Qi deficiency and blood stasis syndrome.

Published in:

Chinese Medicine, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13020-025-01151-9

By:

Wei, Jingjing;
Wang, Aolong;
Yu, Peng;
Sun, Yang;
Wu, Wenjun;
Zhang, Yilin;
Yu, Rui;
Li, Bin;
Zhu, Mingjun

Publication type:

Article

Identifying key genetic variants in Alzheimer's disease progression using Graph Convolutional Networks (GCN) and biological impact analysis.

Published in:

Journal of Big Data, 2025, v. 12, n. 1, p. 1, doi. 10.1186/s40537-025-01228-0

By:

Hamed, Belal A.;
Farghaly, Heba Mamdouh;
Omar, Ahmed;
Abd El-Hafeez, Tarek

Publication type:

Article

Clinical exome sequencing (carrier screening) identifies the gene INPPL1 in a sporadic case of opsismodysplasia.

Published in:

European Journal of Clinical & Experimental Medicine, 2025, v. 23, n. 1, p. 277, doi. 10.15584/ejcem.2025.1.32

By:

Ashish, Ashish;
Mishra, Shivani;
Singh, Royana;
Rai, Sangeeta

Publication type:

Article

Decoding the missing link in cystic lung disease: a unique case series of BHD syndrome.

Published in:

European Journal of Medical Case Reports, 2025, v. 9, n. 5, p. 113, doi. 10.24911/ejmcr.9-1901

By:

Shamsi, Mohd Imran;
Mondal, Papia;
Sengupta, Amitabha;
Pandit, Sudipta

Publication type:

Article

PROTOCOL DESIGN FOR AN OBSERVATIONAL STUDY ON THE VARIATION IN CAUSATIVE FACTORS OF VYANGA (MELASMA) W.S.R. TO DAIHIK PRAKRITI.

Published in:

Cuestiones de Fisioterapia, 2025, v. 54, n. 4, p. 26

By:

Ritesh;
Khurana, Devendra;
Mangal, P. C.

Publication type:

Article

“Recent Advancesin the Understanding and Management of Hyperlipidemia: A Comprehensive Review”.

Published in:

Cuestiones de Fisioterapia, 2024, v. 53, n. 3, p. 5095

By:

Chandra, Richa;
Katiyar, Pratima;
Kushwaha, Kalpana

Publication type:

Article

A Child with Aarskog Scott Syndrome and Autism Spectrum Disorder.

Published in:

Sakarya Tıp Dergisi, 2025, v. 15, n. 2, p. 188, doi. 10.31832/smj.1634144

By:

Gülcü Üstün, Nur Seda

Publication type:

Article

Rare variants modulating phenotype in NF1 carriers.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-09751-z

By:

Pasquinelli, Elena;
Casamassima, Giulia;
Brunelli, Giulia;
Belakhdar, Omaima;
Minetto, Samantha;
Grosso, Salvatore;
Canitano, Roberto;
Marsili, Stefania;
Martellucci, Ignazio;
Miano, Salvadora Tindara;
Petrioli, Roberto;
Baldassarri, Margherita;
D'Aurizio, Romina;
Fallerini, Chiara;
Renieri, Alessandra

Publication type:

Article

Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes.

Published in:

BMC Medical Genomics, 2025, v. 18, n. 1, p. 1, doi. 10.1186/s12920-025-02178-5

By:

Bi, Jingru;
Guo, Wenkai;
Ji, Pengcheng;
Xie, Yuansheng

Publication type:

Article

Improvements in Bone Disorganization and Pseudo‐Fracture Healing in Hypophosphatasia Following Asfotase Alfa Therapy May Be Detectable by the ALIGNOGRAM Before Changes in Bone Radiography or Scintigraphy.

Published in:

2025

By:

Zebaze, Roger;
Zhang, Simon;
Shore-Lorenti, Cat;
Chiang, Cherie;
Milat, Frances;
Ebeling, Peter;
Isozaki, Osamu

Publication type:

Case Study

Thyroid Carcinoma in Birt–Hogg–Dubé Syndrome: Case Series and Review of Literature.

Published in:

Thyroid, 2025, v. 35, n. 7, p. 828, doi. 10.1089/thy.2024.0641

By:

Vaid, Sonal;
Chuki, Elias;
Veeraraghavan, Padmasree;
Jedlinski-Obrzut, Mikolaj;
Bukhari, Khulood;
Klubo-Gwiezdzinska, Joanna;
Gubbi, Sriram

Publication type:

Article

Phase separated condensates of ATRX regulate neural progenitor identity.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-61881-0

By:

Tomooka, Ryo;
Sanosaka, Tsukasa;
Miyagi, Tamami;
Andoh-Noda, Tomoko;
Banno, Satoe;
Mizota, Noriko;
Kanekura, Kohsuke;
Okano, Hideyuki;
Kohyama, Jun

Publication type:

Article

Genetische Diagnostik bei psychischen Erkrankungen im Erwachsenenalter.

Published in:

Der Nervenarzt, 2025, v. 96, n. 4, p. 386, doi. 10.1007/s00115-024-01737-y

By:

Kilarski, Laura L.;
Claus, Isabelle;
Binder, Elisabeth B.;
Degenhardt, Franziska;
Domschke, Katharina;
Forstner, Andreas J.;
Grabe, Hans J.;
Heilbronner, Urs;
Müller, Daniel;
Nöthen, Markus M.;
Radtke, Franziska;
Rietschel, Marcella;
Schulze, Thomas G.;
Streit, Fabian;
Tebartz van Elst, Ludger;
Tüscher, Oliver;
Deckert, Jürgen;
Schulte, Eva C.

Publication type:

Article

Precision Medicine: Personalizing Healthcare by Bridging Aging, Genetics, and Global Diversity.

Published in:

Healthcare (2227-9032), 2025, v. 13, n. 13, p. 1529, doi. 10.3390/healthcare13131529

By:

Edvardsson, Maria;
Heenkenda, Menikae K.

Publication type:

Article

A Newly Documented Rare Case of Pachyonychia Congenita II in a Three‐Month‐Old Baby.

Published in:

2025

By:

Youness, Zeinab;
Hallal, Marwa;
Makhoul, Rita;
Bassukas, Ioannis D.

Publication type:

Case Study

Hashimoto's thyroiditis and nanophthalmos in Gabriele-de Vries syndrome: a case report.

Published in:

Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1583190

By:

Huang, Hui;
Zhang, Dongguang;
Yang, Yu;
Yang, Li;
Chai, Yong

Publication type:

Article

Advancing the Landscape of Clinical Actionability in Von Hippel–Lindau Syndrome: An Evidence-Based Framework from the INT 2 GRATE Oncology Consortium.

Published in:

Cancers, 2025, v. 17, n. 13, p. 2173, doi. 10.3390/cancers17132173

By:

Koeller, Diane R.;
Walker, McKenzie;
Unal, Busra;
Chittenden, Anu;
Levine, Alison Schwartz;
Hayes, Connor P.;
Oramasionwu, Paul C.;
Manam, Monica D.;
Buehler, Ryan M.;
Gomy, Israel;
Silva Jr., Wilson Araujo;
Lerner-Ellis, Jordan;
Casalino, Selina;
Mahajan, Radhika;
Watkins, Nicholas;
Agaoglu, Nihat Bugra;
Manning, Danielle K.;
Barletta, Justine A.;
Hornick, Jason L.;
Lindeman, Neal I.

Publication type:

Article

Integrated Multi-Omics Analysis Reveals the Regulatory Mechanism of Peanut Skin Procyanidins on Lipid Metabolism in High-Fat-Diet-Induced Obese Mice.

Published in:

Nutrients, 2025, v. 18, n. 13, p. 2228, doi. 10.3390/nu17132228

By:

Shen, Jinxin;
Zhou, Yi;
Yang, Daijun;
Liu, Ruonan;
Zhu, Xiaoling;
Liu, Rui

Publication type:

Article

Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 13, p. 6386, doi. 10.3390/ijms26136386

By:

Vinci, Mirella;
Musumeci, Antonino;
Papa, Carla;
Ragalmuto, Alda;
Saccone, Salvatore;
Federico, Concetta;
Greco, Donatella;
Greco, Vittoria;
Calì, Francesco;
Treccarichi, Simone

Publication type:

Article

Skin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 13, p. 6140, doi. 10.3390/ijms26136140

By:

Ochoa-Mellado, Ilse Gabriela;
Padua-Bracho, Alejandra;
Cabrera-Galeana, Paula;
Alvarez-Gómez, Rosa María

Publication type:

Article

Rare Movement Disorders—An Approach for Clinicians.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 13, p. 6024, doi. 10.3390/ijms26136024

By:

Jesuthasan, Aaron;
Magrinelli, Francesca;
Batla, Amit;
Bhatia, Kailash P.

Publication type:

Article

Hereditary α-Tryptasemia and Peripheral Blood KIT D816V Mutation in Patients with Pediatric Mastocytosis.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 13, p. 6023, doi. 10.3390/ijms26136023

By:

Tockova, Olga;
Planinsek Rucigaj, Tanja;
Ivancan, Simona;
Bidovec Stojkovic, Urska;
Rijavec, Matija;
Šelb, Julij;
Korošec, Peter

Publication type:

Article

Kaskadno genetsko testiranje v družinah s sindromom Lynch.

Published in:

Onkologija, 2024, v. 28, n. 2, p. 16, doi. 10.25670/oi2024-013on

By:

Lidija, Praprotnik;
Simona, Hotujec;
Barbara, Stojanov;
Mateja, Krajc

Publication type:

Article

Brittle Cornea Syndrome: Molecular Diagnosis and Management.

Published in:

Diagnostics (2075-4418), 2025, v. 15, n. 13, p. 1596, doi. 10.3390/diagnostics15131596

By:

Zeppieri, Marco;
Gentile, Mattia;
Acquaviva, Antonio;
Scollo, Davide;
D'Esposito, Fabiana;
Gagliano, Giuseppe;
Avitabile, Alessandro;
Gagliano, Caterina;
Lapenna, Lucia

Publication type:

Article

Novel Splice Variant in the HES7 Gene in Vietnamese Patient with Spondylocostal Dysostosis 4: A Case Report and Literature Review.

Published in:

Diagnostics (2075-4418), 2025, v. 15, n. 13, p. 1587, doi. 10.3390/diagnostics15131587

By:

Nguyen, Ha Minh;
Lien, Nguyen Thi Kim;
Tran, Thinh Huy;
Nguyen, Ngoc Lan;
Nguyen, Suong Bang Thi;
Bui, Thi Hong Chau;
Tung, Nguyen Van;
Thanh, Le Tat;
Xuan, Nguyen Thi;
Tran, Van Khanh;
Hoang, Nguyen Huy

Publication type:

Article

Bata thalassemia incidence in Baghdad city and the association with ABO blood groups.

Published in:

Al-Yarmouk Journal, 2022, v. 16, n. 3, Part 2, p. 7

By:

Al-Shawi, Abdul-Razzak Jabbar;
Sheet Saleh, madha Mohammed

Publication type:

Article

Case report: Recurrent catatonia in a patient with 17p13.3 microduplication syndrome.

Published in:

Frontiers in Psychiatry, 2025, p. 1, doi. 10.3389/fpsyt.2025.1607003

By:

Querter, Ilya;
Schuermans, Nika;
Van de Velde, Nele;
Geleyn, Cisse;
Dheedene, Annelies;
Audenaert, Kurt;
Baeken, Chris;
Callewaert, Bert;
Lemmens, Gilbert

Publication type:

Article

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome.

Published in:

Journal of Intellectual Disability Research, 2025, v. 69, n. 8, p. 682, doi. 10.1111/jir.13247

By:

Rogers, Dante J.;
Hudock, Rebekah L.;
Dimian, Adele F.;
Collazo‐Lopez, Josue;
Shanley, Ryan;
Pierpont, Elizabeth I.

Publication type:

Article

Psoriasis: an update on topical and systemic therapies.

Published in:

Australian Prescriber, 2025, v. 48, n. 3, p. 87, doi. 10.18773/austprescr.2025.026

By:

Chan, Jonathan J.

Publication type:

Article

P.063 Pediatric status dystonicus: 10-year experience at a single tertiary children's hospital.

Published in:

2025

By:

Peacock, DJ;
Vithlani, K;
Clarke, GA;
Patel, M;
Horvath, G

Publication type:

Abstract