Works matching DE "GENETIC disorders"

Results: 5000

A Novel c.459_460insC Variation in the XK Gene Associated with McLeod Syndrome.

Published in:

Transfusion Medicine & Hemotherapy, 2025, v. 52, n. 3, p. 211, doi. 10.1159/000539875

By:

Zhang, Bing;
Yu, Shifang;
Hong, Xiaozhen;
Xu, Xianguo;
Zhu, Faming

Publication type:

Article

Four patients with hereditary angioedema with different initial symptoms and clinical features.

Published in:

World Journal of Emergency Medicine, 2025, v. 16, n. 3, p. 283, doi. 10.5847/wjem.j.1920-8642.2025.060

By:

Jiao Chen;
Ruiyu Wang;
Shun Zhang;
Yang Wang;
Ying Chen;
Xiaohong Zhang;
Chuanzhu Lyu

Publication type:

Article

Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 702, doi. 10.1111/cge.14723

By:

Kershaw, Christopher;
Demain, Leigh;
Baker, Eleanor;
Burghel, George;
Durkie, Miranda;
Forde, Claire;
Makin, Guy;
Cheesman, Edmund;
Warren, Anne;
Gokhale, David;
Schlecht, Helene;
Maher, Eamonn;
Oliveira, Pedro;
Woodward, Emma

Publication type:

Article

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 646, doi. 10.1111/cge.14701

By:

Trujillano, Laura;
Valenzuela, Irene;
Costa‐Roger, Mar;
Cuscó, Ivon;
Fernandez‐Alvarez, Paula;
Cueto‐González, Anna;
Lasa‐Aranzasti, Amaia;
Masotto, Bárbara;
Abulí, Anna;
Codina‐Solà, Marta;
del Campo, Miguel;
Ruiz Moreno, Juan Antonio;
Pardo Domínguez, Cristina;
Palma Milla, Carmen;
Pérez de la Fuente, Rubén;
Quesada‐Espinosa, Juan Francisco;
Núñez‐Enamorado, Noemí;
Gener, Blanca;
Ballesta‐Martínez, María Juliana;
Brea‐Fernández, Alejandro J.

Publication type:

Article

Balanced Translocation t(3;12) Disrupting HMGA2 and NAALADL2 Genes in Twins With Silver–Russell Syndrome and Intellectual Disability.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 694, doi. 10.1111/cge.14699

By:

de Souza, Vanessa Sodré;
Wawruk, Halinna Dornelles;
Mehrjouy, Mana M.;
Bak, Mads;
da Cunha, Gabriela Corassa Rodrigues;
Gonçalves, Ana Caroline Gabriel;
Cordoba, Mara Santos;
Tommerup, Niels;
Mazzeu, Juliana F.

Publication type:

Article

Novel Phenotypes and Genotype–Phenotype Correlations in a Large Clinical Cohort of Patients With Kleefstra Syndrome.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 636, doi. 10.1111/cge.14697

By:

Frazier, Zoë J.;
Kilic, Seyda;
Osika, Hailey;
Mo, Alisa;
Quinn, Meg;
Ballal, Sonia;
Katz, Tamar;
Shearer, A. Eliot;
Horlbeck, Max A.;
Pais, Lynn S.;
Dies, Kira A.;
O'Donnell‐Luria, Anne;
Kossowsky, Joe;
Lipton, Jonathan O.;
Kleefstra, Tjitske;
Srivastava, Siddharth

Publication type:

Article

Upadacitinib for refractory Behçet's disease with myelodysplastic syndrome and trisomy 8/9: a case report and mechanistic insights.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1609884

By:

Wang, Yukai;
Tian, Feng;
Li, Hui

Publication type:

Article

Insights into Tuberous Sclerosis Complex : From Genes to Clinics.

Published in:

Journal of Korean Neurosurgical Society, 2025, v. 68, n. 3, p. 321, doi. 10.3340/jkns.2025.0035

By:

Kim, Soo Yeon

Publication type:

Article

Lifelong Management of Neurofibromatosis 1 Patients.

Published in:

Journal of Korean Neurosurgical Society, 2025, v. 68, n. 3, p. 261, doi. 10.3340/jkns.2025.0057

By:

Chong, Sangjoon

Publication type:

Article

Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways.

Published in:

Journal of Korean Neurosurgical Society, 2025, v. 68, n. 3, p. 350, doi. 10.3340/jkns.2025.0011

By:

Kim, Joo Whan

Publication type:

Article

Reduction in myofilament Ca<sup>2+</sup> sensitivity partially ameliorates the cardiac phenotype in hypertrophic cardiomyopathy linked to a TnT-R92Q mutation.

Published in:

Frontiers in Physiology, 2025, p. 1, doi. 10.3389/fphys.2025.1600117

By:

Langa, Paulina;
Bacon, Angelie;
Warren, Chad M.;
Chowdhury, Shamim A. K.;
Halas, Monika;
Fernandes, Aurelia A.;
McCauley, Mark D.;
Goldspink, Paul H.;
Solaro, R. John;
Wolska, Beata M.

Publication type:

Article

Oxidative stress in periodontitis and the application of antioxidants in treatment: a narrative review.

Published in:

Frontiers in Physiology, 2025, p. 1, doi. 10.3389/fphys.2025.1485367

By:

Liu, Wei;
Guo, Daoyu

Publication type:

Article

Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review.

Published in:

BMC Pediatrics, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12887-025-05810-6

By:

Wei, Jieru;
Zhao, Gongping;
Li, Lijie;
Liu, Cuihua;
Li, Jitong

Publication type:

Article

Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100039

By:

da Cunha, Gabriela Corassa Rodrigues;
de Souza, Vanessa Sodré;
Zuben, Marcus Von;
Córdoba, Mara Santos;
Ayrimoraes Soares, Mayra Veloso;
Bonadio, Raphael Severino;
de Oliveira, Daniela Mara;
de Oliveira, Silviene Fabiana;
de Mazzeu Araújo, Juliana Forte;
Pic-Taylor, Aline

Publication type:

Article

RNA binding proteins (RBPs) on genetic stability and diseases.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100032

By:

Aborode, Abdullahi Tunde;
Abass, Ohilebo Abdulateef;
Nasiru, Shaibu;
Eigbobo, Mary Ugunnushe;
Nefishatu, Sumana;
Idowu, Abdullahi;
Tiamiyu, Zainab;
Awaji, Aeshah A.;
Idowu, Nike;
Busayo, Babawale Roqeeb;
Mehmood, Qasim;
Onifade, Isreal Ayobami;
Fakorede, Sodiq;
Akintola, Ashraf Akintayo

Publication type:

Article

A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100004

By:

Kafshboran, Haniyeh Rahbar;
Akcan, Neşe;
Polat, Doğa Ceren;
Ergören, Mahmut Çerkez

Publication type:

Article

The association of body image with quality of life, psychological assistance and social support in neurofibromatosis type 1 patients: a cross-sectional study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03729-w

By:

Muñoz, Daniel;
Jodar, Mercè;
Valls, Laia;
Fornieles-Deu, Albert;
Castellanos, Elisabeth;
Blanco, Ignacio

Publication type:

Article

Spinocerebellar Ataxia Type 27B (SCA27B): A Hereditary Ataxia in Portugal.

Published in:

Acta Médica Portuguesa, 2025, v. 38, n. 6/7, p. 408, doi. 10.20344/amp.22232

By:

MENDES FERREIRA, Vítor;
MAGRIÇO, Marta;
MEIRA, Bruna;
BARBOSA, Raquel

Publication type:

Article

Clinical Characteristics of Multiple Café-Au-Lait Macules and Their Potential Significance in the Early Screening of Genetic Diseases.

Published in:

Clinical, Cosmetic & Investigational Dermatology, 2025, v. 18, p. 1339, doi. 10.2147/CCID.S521076

By:

Chen, Tong;
Wu, Jiamin;
Yang, Xin;
Xia, Zhikuan;
Yang, Rongya

Publication type:

Article

Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review.

Published in:

Journal of Neurodevelopmental Disorders, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s11689-025-09614-8

By:

Sylvester, Amy L.;
Hensenne, Eva;
Ivanov, Dimo;
Poser, Benedikt A.;
Linden, David E. J.;
van Amelsvoort, Thérèse;
Vingerhoets, Claudia

Publication type:

Article

Diagnostic Conundrum of a Sertoli Cell Tumor in a 2-Year-Old Girl with Peripheral Precocious Puberty and a Café-au-Lait Macule: A Case Report.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 362, doi. 10.1159/000538945

By:

Ray, Lauren A.;
Billmire, Deborah F.;
Ferguson, Michael J.;
Eugster, Erica A.

Publication type:

Article

Catecholaminergic Polymorphic Ventricular Tachycardia in a 16-year-old: Case Report.

Published in:

Clinical Practice & Cases in Emergency Medicine, 2025, v. 9, n. 2, p. 220, doi. 10.5811/cpcem.34847

By:

Wahhab, John;
Oganesyan, Ani;
Korrapati, Krishi

Publication type:

Article

Jacobsen syndrome in a patient with combined immunodeficiency, thrombocytopenia, congenital heart disease and facial dysmorphism: a case report and review of literature.

Published in:

Polish Journal of Allergology / Alergologia Polska, 2025, v. 12, n. 2, p. 147, doi. 10.5114/pja.2025.151295

By:

Özdemir, Öner;
Dikici, Ümmügülsüm;
Yarar, Murat Hakkı

Publication type:

Article

Cross-Sectional Study of the Association Between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy.

Published in:

Tohoku Journal of Experimental Medicine, 2025, v. 266, n. 1, p. 81, doi. 10.1620/tjem.2024.J137

By:

Takatoshi Sato;
Yuki Kihara;
Kumiko Ishiguro;
Minobu Shichiji;
Terumi Murakami;
Satoru Nagata;
Eriko Shimada;
Kei Inai;
Atsuhito Takeda;
Keiko Ishigaki

Publication type:

Article

Abdominal Manifestations of Tuberous Sclerosis Complex.

Published in:

Applied Radiology, 2025, v. 54, n. 2, p. 21, doi. 10.37549/AR-D-24-0074

By:

Akram, Muhammad Nabeel;
Kai Xue;
Shiralkar, Kaustubh G.;
Chua, Steven S.

Publication type:

Article

Clinical case of a patient with Vissers-Bodmer syndrome.

Published in:

European Journal of Clinical & Experimental Medicine, 2025, v. 23, p. 43

By:

Halyna, Lun;
Nataliya, Hrabarchuk;
Tetyana, Lukash

Publication type:

Article

Excessive left ventricular trabeculations mimicking a thrombus Open Access.

Published in:

2025

By:

Singh, Gurnoor;
Shotwell, Matthew;
Kalra, Dinesh

Publication type:

Case Study

Mutations in the TCAP gene may lead to restrictive phenotype hypertrophic cardiomyopathy with poor prognosis: case report Open Access.

Published in:

European Heart Journal Case Reports, 2025, v. 9, n. 5, p. 1, doi. 10.1093/ehjcr/ytaf180

By:

Hu, Yunwen;
Liu, Guangzhong;
Yuan, Jie;
Yin, Da;
Lin, Yaowang

Publication type:

Article

AWARENESS OF THE PRE-MARITAL SCREENING AMONG STUDENTS AT THE COLLEGE OF APPLIED MEDICAL SCIENCES IN TAIF UNIVERSITY.

Published in:

Bulletin of Pure & Applied Sciences-Zoology, 2024, v. 43, p. 953

By:

Halawani, Ibrahim Faisal

Publication type:

Article

Genetic suppression interactions are highly conserved across genetically diverse yeast isolates Open Access.

Published in:

G3: Genes | Genomes | Genetics, 2025, v. 15, n. 5, p. 1, doi. 10.1093/g3journal/jkaf047

By:

Paltenghi, Claire;
Leeuwen, Jolanda van

Publication type:

Article

Humanized Saccharomyces cerevisiae provides a facile and effective tool to identify damaging human variants that cause exosomopathies Open Access.

Published in:

G3: Genes | Genomes | Genetics, 2025, v. 15, n. 4, p. 1, doi. 10.1093/g3journal/jkaf036

By:

Ahammed, Khondakar Sayef;
Fasken, Milo B;
Corbett, Anita H;
Hoof, Ambro van

Publication type:

Article

AAV-based TCAP delivery rescues mitochondria dislocation in limb-girdle muscular dystrophy R7.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 5, p. 1680, doi. 10.1093/brain/awae351

By:

Lv, Xiaoqing;
Liu, Shuangwu;
Li, Xi;
Lv, He;
Shao, Kai;
Luo, Sushan;
Zhao, Dandan;
Yan, Chuanzhu;
Lin, Pengfei

Publication type:

Article

Etiopathogenesis of congenital and hereditary diseases as a result of impact of a slow viral infection and a rhythm of the Sun on insulin system.

Published in:

Socrates Almanac, 2017, p. 27

By:

Bleskin B. I.;
Trushkin N. S.;
Ivanov K. E.;
Moiseyeva T. V.

Publication type:

Article

Spinal anesthesia in a patient with epidermolysis bullosa.

Published in:

Medicine Science, 2025, v. 14, n. 2, p. 575, doi. 10.5455/medscience.2024.12.161

By:

Altas, Aytac;
Perdeci, Onur

Publication type:

Article

Metabolomics insights into Charcot–Marie–Tooth disease: toward biomarker discovery.

Published in:

Frontiers in Neurology, 2025, p. 1, doi. 10.3389/fneur.2025.1543547

By:

Setlere, Signe;
Schiemer, Theresa;
Vaska, Annija;
Gailite, Linda;
Rots, Dmitrijs;
Kenina, Viktorija;
Klavins, Kristaps

Publication type:

Article

FORMULATION AND EVALUATION OF POLYHERBAL CAPSULES TO TREAT LIPID DISORDERS.

Published in:

International Journal of Pharmacology & Biological Sciences, 2024, v. 18, n. 1, p. 1

By:

Kandekar, Vikas;
Dumbre, Rahul;
Shinde, Pratima;
Kamble, Manisha

Publication type:

Article

Mapping anemia prevalence across Indonesia.

Published in:

Asia Pacific Journal of Clinical Nutrition, 2025, v. 34, n. 3, p. 430, doi. 10.6133/apjcn.202506_34(3).0017

By:

Priliani, Lidwina;
Harahap, Alida R.;
Satyagraha, Ari W.;
Noviyanti, Rintis;
Apriyana, Isabella;
Biotek, Illene Nanine S.;
Herawati Sudoyo;
Malik, Safarina G.

Publication type:

Article

VPS13D-related disorders: a severe case, review, and genotype–phenotype correlation.

Published in:

2025

By:

Liu, Wei-Liang;
Li, Fang

Publication type:

Case Study

Correction: Canine models of inherited retinal diseases: from neglect to well-recognized translational value.

Published in:

2025

By:

Dufour, Valérie L.;
Aguirre, Gustavo D.

Publication type:

Correction Notice

Canine models of inherited retinal diseases: from neglect to well-recognized translational value.

Published in:

Mammalian Genome, 2025, v. 36, n. 2, p. 500, doi. 10.1007/s00335-024-10091-y

By:

Dufour, Valérie L.;
Aguirre, Gustavo D.

Publication type:

Article

Genomics and Your Health - U.S. Centers for Disease Control and Prevention.

Published in:

Journal of Consumer Health on the Internet, 2025, v. 29, n. 2, p. 257, doi. 10.1080/15398285.2025.2494947

By:

Bihn, Clara

Publication type:

Article

Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00314-2

By:

Wakabayashi, Hiroko;
Matsumoto, Ayumi;
Komori, Sakiko;
Goto, Masahide;
Tajima, Toshihiro;
Sasaki, Aiko;
Matsumura, Takayoshi;
Yamagata, Takanori

Publication type:

Article

De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00316-0

By:

Moriura, Yuri;
Nishio, Yosuke;
Ichimura, Shintaro;
Noda, Haruka;
Tanahashi, Yoshihiro;
Yamamoto, Hikaru;
Nakazawa, Yuka;
Oso, Taichi;
Sato, Yoshiaki;
Takenouchi, Toshiki;
Saitoh, Shinji;
Muramatsu, Yukako;
Ogi, Tomoo

Publication type:

Article

Personalized Microbiome Modulation to Improve Clinical Outcomes in Pediatric Inflammatory Bowel Disease: A Multi-Omics and Interventional Approach.

Published in:

Microorganisms, 2025, v. 13, n. 5, p. 1047, doi. 10.3390/microorganisms13051047

By:

Goldiș, Adrian;
Dragomir, Radu;
Mercioni, Marina Adriana;
Goldiș, Christian;
Sirca, Diana;
Enătescu, Ileana;
Olariu, Laura;
Belei, Oana

Publication type:

Article

Non-Invasive Prenatal Screening for Down Syndrome: A Review of Mass-Spectrometry-Based Approaches.

Published in:

Life (2075-1729), 2025, v. 15, n. 5, p. 695, doi. 10.3390/life15050695

By:

Jurca, Răzvan Lucian;
Pralea, Ioana-Ecaterina;
Iacobescu, Maria;
Rus, Iulia;
Iuga, Cristina-Adela;
Stamatian, Florin

Publication type:

Article

Aptamer–ODN Chimeras: Enabling Cell-Specific ODN Targeting Therapy.

Published in:

Cells (2073-4409), 2025, v. 14, n. 10, p. 697, doi. 10.3390/cells14100697

By:

Xia, Bei;
Zhu, Qubo

Publication type:

Article

Current Challenges With Highly Active Antiretroviral Therapy and New Hope and Horizon With CRISPR‐CAS9 Technology for HIV Treatment.

Published in:

Chemical Biology & Drug Design, 2025, v. 105, n. 5, p. 1, doi. 10.1111/cbdd.70121

By:

Zubair, Akmal;
Sujan, Arooba;
Ali, Muhammad;
Hussain, Syeda Maryam

Publication type:

Article

Management of Seckel Syndrome with Cerebral Aneurysms: Favorable Outcomes.

Published in:

Journal of Pediatric Neurosciences, 2024, v. 19, n. 3, p. 123, doi. 10.4103/jpn.jpn_143_23

By:

Chand, Prem;
Jan, Aliyan;
Khan, Durray Shahwar A.

Publication type:

Article

Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses Open Access.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 5, p. e1524, doi. 10.1210/clinem/dgae524

By:

Männistö, Jonna M E;
Hopkins, Jasmin J;
Hewat, Thomas I;
Nasser, Fatima;
Burrage, Joseph;
Dastamani, Antonia;
Mirante, Alice;
Murphy, Nuala;
Rzasa, Jessica;
Kerkhof, Jennifer;
Relator, Raissa;
Johnson, Matthew B;
Laver, Thomas W;
Weymouth, Luke;
Houghton, Jayne A L;
Wakeling, Matthew N;
Sadikovic, Bekim;
Dempster, Emma L;
Flanagan, Sarah E

Publication type:

Article

Inclusion of pyridoxine dependent epilepsy in expanded newborn screening programs by tandem mass spectrometry: set up of first and second tier tests.

Published in:

Clinical Chemistry & Laboratory Medicine, 2025, v. 63, n. 7, p. 1344, doi. 10.1515/cclm-2024-1230

By:

Damiano, Roberta;
Della Bona, Maria;
Procopio, Elena;
Guerrini, Renzo;
Bettiol, Alessandra;
la Marca, Giancarlo

Publication type:

Article