Works matching DE "GENETIC disorders"

Results: 5000

The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease Open Access.

Published in:

Clinical Kidney Journal, 2025, v. 18, n. 4, p. 1, doi. 10.1093/ckj/sfaf064

By:

Bi, Jingru;
Guo, Wenkai;
Ji, Pengcheng;
Li, Shuang;
Wang, Peng;
Li, Qinggang;
Xie, Yuansheng

Publication type:

Article

Paediatrics and genetics.

Published in:

Clinical & Experimental Dermatology, 2025, v. 50, n. 5, p. 1057, doi. 10.1093/ced/llaf006

By:

Boyle, Aoife;
Moloney, Fergal J

Publication type:

Article

Factors contributing to non-compliance with on-demand treatment guidelines in hereditary angioedema.

Published in:

Allergy, Asthma & Clinical Immunology, 2025, v. 21, n. 1, p. 1, doi. 10.1186/s13223-025-00969-0

By:

Betschel, Stephen D.;
Peter, Jonny;
Lumry, William;
Longhurst, Hilary;
Katelaris, Constance H.;
van Kooten, Sally;
Heckmann, Markus;
Malloy, Neil;
Ulloa, Julie;
Danese, Sherry;
Magerl, Markus

Publication type:

Article

An Integrated Solution for Application of Next-Generation Sequencing in Newborn Screening.

Published in:

Clinical Laboratory, 2025, v. 71, n. 5, p. 803, doi. 10.7754/Clin.Lab.2024.241006

By:

Zhong-Yao Xu;
Shuo-Dan Huang;
Jie Zou;
Wei-Hong Zeng;
Yong-Chao Guo;
Jian-Hui Jiang

Publication type:

Article

Recurrent pericardial effusion due to Hennekam lymphangiectasia-lymphedema syndrome: a case report and literature review.

Published in:

BMC Cardiovascular Disorders, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12872-025-04842-1

By:

Zhang, Ran;
Zhang, Junyan;
Rao, Li;
Chen, Zhongxiu;
Wang, Mian

Publication type:

Article

A&I ANÄSTHESIOLOGIE & INTENSIVMEDIZIN.

Published in:: Anaesthesiologie & Intensivmedizin, 2025, v. 66, n. 5, p. S86
Publication type:: Article

Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review.

Published in:

Journal of Neurodevelopmental Disorders, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s11689-025-09618-4

By:

Caumes, Roseline;
Burger, Pauline;
Mandel, Jean-Louis;
Béhal, Hélène;
Ghoumid, Jamal;
Smol, Thomas

Publication type:

Article

Safe Continuation of Pegvisomant During Pregnancy in a Patient With Fibrous Dysplasia/McCune-Albright Syndrome Open Access.

Published in:

2025

By:

Tan, Jia Yong;
Chemmanam, Julie;
Burt, Morton G;
Nguyen, Huyen Thi Thanh;
Ho, Jui Ting

Publication type:

Case Study

Familial Paraganglioma Presenting With Acute Coronary Syndrome and Coronary Vasospasm Open Access.

Published in:

JCEM Case Reports, 2025, v. 3, n. 6, p. 1, doi. 10.1210/jcemcr/luaf082

By:

Puig-Jové, Carlos;
Pascual, Luis García;
Perea, Verónica;
Quirós, Carmen;
Simó-Servat, Andreu;
Barahona, María-José

Publication type:

Article

The role of genetic defects in carnitine-associated hepatic encephalopathy: a review of literature.

Published in:

Gastroenterology & Hepatology from Bed to Bench, 2024, v. 17, n. 4, p. 357, doi. 10.22037/ghfbb.v17i4.2960

By:

Kheirandish, Ali;
Hosseini, Reza Shah;
Yaghoobpoor, Shirin;
Bahrami, Ashkan;
Aghajani, Alireza;
Fathi, Mobina;
Alipour, Milad;
Zarebidoki, Ameneh;
Mohamadkhani, Ashraf

Publication type:

Article

Genotype–phenotype correlation for skin and neuropsychiatric features in tuberous sclerosis complex.

Published in:

British Journal of Dermatology, 2025, v. 192, n. 6, p. 1122, doi. 10.1093/bjd/ljaf038

By:

Kaneda, Emi;
Koguchi-Yoshioka, Hanako;
Nimura, Keisuke;
Hattori, Satoshi;
Ishino, Saki;
Fujimoto, Manabu;
Wataya-Kaneda, Mari

Publication type:

Article

Abstracts.

Published in:: European Journal of Clinical Investigation, 2025, v. 55, p. 1, doi. 10.1111/eci.70053
Publication type:: Article

Novel variant of COL12A1 gene causing neonatal hypotonia and respiratory failure.

Published in:

Neurological Sciences, 2025, v. 46, n. 6, p. 2847, doi. 10.1007/s10072-025-08028-7

By:

Huang, Huizhi;
Deng, Luyao;
Zhang, Yu;
Wang, Ying;
Yan, Dongya;
Lin, Xianhong;
Wang, Yan;
Wang, Yingyan;
Hu, Xiaofeng

Publication type:

Article

Rheumatoid meningitis: a challenging diagnosis for neurologists.

Published in:

2025

By:

Bombaci, Alessandro;
Mazzeo, Salvatore;
Perini, Maria Paola;
Rotondo, Giuseppe;
Vaso, Nikoleta;
Agosta, Federica;
Filippi, Massimo;
Salsone, Maria

Publication type:

Letter

Signal mining and analysis of adverse events of Brentuximab Vedotin base on FAERS and JADER databases.

Published in:

PLoS ONE, 2025, v. 20, n. 5, p. 1, doi. 10.1371/journal.pone.0322378

By:

Tan, Feilong;
Li, Yanhua;
Xia, Hongying;
Yin, Wenjie

Publication type:

Article

Prevalence of Autoantibodies in Patients with Hereditary Alpha-Tryptasemia.

Published in:

International Archives of Allergy & Immunology, 2025, v. 186, n. 5, p. 484, doi. 10.1159/000541880

By:

Slapnicar, Calum;
Lee, Erika;
Vadas, Peter

Publication type:

Article

A novel mouse model for X-linked Alport syndrome induced by splicing mutation in the Col4a5 gene.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-01663-2

By:

Ye, Zhitao;
Lu, Di;
Zhou, Shumin;
Li, Guanyu;
Long, Lili;
Zhang, Jiayi;
Liu, Ming;
Gao, Xia

Publication type:

Article

XPRS: a tool for interpretable and explainable polygenic risk score Open Access.

Published in:

Bioinformatics, 2025, v. 41, n. 4, p. 1, doi. 10.1093/bioinformatics/btaf143

By:

Kim, Na Yeon;
Lee, Seunggeun

Publication type:

Article

Gene therapy: principles, challenges and use in clinical practice.

Published in:

Wiener Klinische Wochenschrift, 2025, v. 137, n. 9, p. 261, doi. 10.1007/s00508-024-02368-8

By:

Ay, Cihan;
Reinisch, Andreas

Publication type:

Article

Obstructive Sleep Apnea Management in Children Despite Adenotonsillectomy: Guidelines From the American Thoracic Society.

Published in:

2025

By:

Arnold, Michael J.

Publication type:

Case Study

Predisposing conditions in patients with small intestinal adenocarcinomas in the Netherlands: A 20‐year nationwide cohort study.

Published in:

International Journal of Cancer, 2025, v. 157, n. 2, p. 218, doi. 10.1002/ijc.35354

By:

Linssen, Jasmijn D. G.;
Schafrat, Pascale J. M.;
de Back, Tim R.;
van Erning, Felice N.;
van Leerdam, Monique E.;
Dekker, Evelien;
Vermeulen, Louis;
de Hingh, Ignace H. J. T.;
Sommeijer, Dirkje W.

Publication type:

Article

Spontaneous subgaleal haematoma with severe headache in two children during acute painful sickle cell crisis.

Published in:

Nigerian Medical Journal, 2025, v. 66, n. 1, p. 379, doi. 10.71480/nmj.v66i1.615

By:

Akor, Francis;
Thenat, Toby;
Hussain, Sajjad;
Kumar, Suresh

Publication type:

Article

Treatment preferences among individuals with primary hyperoxaluria type 1 (PH1): a real-world study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03738-9

By:

Goldfarb, David S.;
Chen, Jing Voon;
Zincavage, Rebekah;
Padilla, Brad;
Sussman, Matthew;
Salem, Sandra;
Modersitzki, Frank

Publication type:

Article

Improvement of Motor Function in SLC39A8‐Related Ataxia Through Manganese Supplementation: A Therapeutic Insight.

Published in:

Movement Disorders Clinical Practice, 2025, v. 12, n. 5, p. 677, doi. 10.1002/mdc3.70001

By:

Portela, Denise Maria Meneses Cury;
Guimarães, Thiago Gonçalves;
de Morais, Sandra Tuany Alves;
de Araújo, Natália Rebeca Alves;
de Sousa Araújo, Luana Larisse;
Vasconcelos, Vinicius Santana;
Noleto, Gustavo Sousa;
da Costa Braga, Patricia Maria;
Camargos, Sarah Teixeira

Publication type:

Article

A Case Series of Three Patients with Cleidocranial Dysplasia: Clinical Presentation and Diagnostic Considerations.

Published in:

Cleft Palate Craniofacial Journal, 2025, v. 62, n. 4, p. 715, doi. 10.1177/10556656241234742

By:

Berber, Uğur;
Gül Şıraz, Ülkü;
Yakubi, Mustafa;
Gök, Ebru;
Kara, Leyla;
Kiraz, Aslihan;
Dündar, Munis;
Hatipoglu, Nihal

Publication type:

Article

DICER1 Mutational Spectrum in Intracranial CNS-Neoplasias—A Review and a Report from the CNS-InterREST GPOH Study Center.

Published in:

Cancers, 2025, v. 17, n. 9, p. 1513, doi. 10.3390/cancers17091513

By:

Manea, Selma;
Fincke, Victoria E.;
Frühwald, Michael C.;
Sturm, Dominik;
von Zezschwitz, Barbara;
Johann, Pascal D.;
Mucha, Marlena

Publication type:

Article

Heart dysfunction in a rat model with autosomal recessive polycystic kidney disease.

Published in:

Journal of Physiology, 2025, v. 603, n. 9, p. 2551, doi. 10.1113/JP286364

By:

Gayrard, Nathalie;
Plawecki, Maëlle;
Lauret, Céline;
Fila, Marc;
Sicard, Pierre;
Duranton, Flore;
Boukhaled, Juliana H.;
Cortijo‐Tejero, Irene;
Lotierzo, Manuela;
Jover, Bernard;
Cristol, Jean‐Paul;
Raynaud, Fabrice

Publication type:

Article

Population Pharmacokinetic/Pharmacodynamic and Exposure–Response Modeling of Garadacimab in Healthy Volunteers and Patients With Hereditary Angioedema.

Published in:

CPT: Pharmacometrics & Systems Pharmacology, 2025, v. 14, n. 5, p. 954, doi. 10.1002/psp4.70009

By:

Garcia, Ramon;
Cheng, Shen;
Glassman, Fiona;
Sharma, Ankur;
De Miguel‐Lillo, Bernardo;
Wiens, Matthew;
Johnston, Curtis;
Lawo, John‐Philip;
Pragst, Ingo;
French, Jonathan;
Polhamus, Dan;
Nandy, Partha

Publication type:

Article

Esculetin Inhibits Fat Accumulation Through Insulin/Insulin-like Growth Factor- and AMP-Activated Protein Kinase-Dependent Pathways in Caenorhabditis elegans.

Published in:

Nutrients, 2025, v. 17, n. 9, p. 1565, doi. 10.3390/nu17091565

By:

Kim, Aaron Taehwan;
Park, Yeonhwa

Publication type:

Article

Ochronotic Arthropathy of the Knee Managed with Lateral Unicompartmental Knee Arthroplasty.

Published in:

2025

By:

Prasad, J. B. Venkatesh;
Kulshrestha, Vikas;
Sood, Munish;
Prabhakara, Anjan;
Kulshrestha, Soma

Publication type:

Case Study

The Effect of Oromotor and Sensory Treatment on Persistent Thumb Sucking and Basic Feeding and Swallowing in a Toddler with Angelman Syndrome: A Case Report.

Published in:

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2024, v. 17, p. S384, doi. 10.4103/mjdrdypu.mjdrdypu_605_23

By:

Tejani, Neelam;
Saini, Seema;
Palekar, Tushar

Publication type:

Article

Anesthetic Management of Children with KBG Syndrome and Novel Use of Sacral Erector Spinae Block: A Case Report.

Published in:

2024

By:

Hussain, Sana Y.;
Patel, Nishant;
Gupta, Anju;
Pandya, Nupur

Publication type:

Case Study

Case Report: Late diagnosis of McCune-Albright with severe kyphoscoliosis, acromegaly and tertiary hyperparathyroidism.

Published in:

Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2025.1464945

By:

Bogusławska, Anna;
Komisarz-Calik, Maria;
Hubalewska-Dydejczyk, Alicja;
Korbonits, Márta;
Romanet, Pauline;
Barlier, Anne;
Gilis-Januszewska, Aleksandra

Publication type:

Article

The "Pigmented Side" of Nerve Sheaths: Malignant Melanotic Nerve Sheath Tumor.

Published in:

International Journal of Surgical Pathology, 2025, v. 33, n. 4, p. 1068, doi. 10.1177/10668969241295689

By:

Franca, Raduan Ahmed;
Di Crescenzo, Rosa Maria;
Ugga, Lorenzo;
Della Monica, Rosa;
D'Avella, Elena

Publication type:

Article

22q11.2 微缺失综合征的研究进展.

Published in:

Journal of Modern Medicine & Health, 2024, v. 40, n. 21, p. 3730, doi. 10.3969/j.issn.1009-5519.2024.21.025

By:

彭桢懿;
范亮亮

Publication type:

Article

肝炎相关性再生障碍性贫血合并噬血细胞综合征 1例并文献复习.

Published in:

Chinese Journal of Contemporary Pediatrics, 2025, v. 27, n. 4, p. 465, doi. 10.7499/j.issn.1008-8830.2409118

By:

周鑫;
陈晓宇;
文川;
罗森林

Publication type:

Article

A systematic review of case series of Marfan syndrome: ocular findings and complications.

Published in:

Romanian Medical Journal, 2025, v. 72, n. 1, p. 134, doi. 10.37897/RMJ.2025.1.11

By:

Adji, Arga Setyo;
Billah, Atiyatum;
Fadila, Firzaniattu;
Praja, Echa Titiani;
Retno, Indira;
Puspitasari, Angela;
Stefani Angel, Syalomitha Claudia

Publication type:

Article

حكم موانع االنجاب حال وجود المرض الوراثي دراسة فقهية مقارنة.

Published in:

Al-Andalus journal for Humanities & Social Sciences, 2025, v. 12, n. 121, p. 35, doi. 10.35781/1637-000-121-002

By:

مريم بنت والي بن &#158

Publication type:

Article

Decoding the Mystery of Multiple Swellings and Joint Contractures: Hyaline Fibromatosis Syndrome.

Published in:

Indian Journal of Dermatology, 2025, v. 70, n. 3, p. 164, doi. 10.4103/ijd.ijd_643_23

By:

Varshini, Chandrasekhar;
Chidambaram, Aakash Chandran;
Babu, Raju Manivannan Dinesh;
Vidhyasagar, Krishnamoorthy;
Sagayaraj, Benjamin

Publication type:

Article

Caracterización clínica de pacientes con síndrome neurocutáneo.

Published in:

Revista Medica del IMSS, 2025, v. 63, n. 2, p. 1, doi. 10.5281/zenodo.14616948

By:

Hernández-Castañeda, Yazmin;
Juárez-Melchor, Daniela;
Vera-Loaiza, Aurea;
Alberto Pérez-Arzola, Alan;
Enrique Crisanto-López, Israel;
Omar Rodríguez-Hurtado, Pablo

Publication type:

Article

Identification of a novel missense variant in the AVP gene in a Japanese pedigree with familial neurohypophyseal diabetes insipidus.

Published in:

Clinical Pediatric Endocrinology, 2025, v. 34, n. 1, p. 77, doi. 10.1297/cpe.2024-0067

By:

Daiei Kojima;
Masami Shibata;
Hiroaki Shikano;
Yoshihiro Maruo;
Hidehiko Fujii

Publication type:

Article

Wieacker--Wolff syndrome with hyperinsulinemic hypoglycemia successfully treated using diazoxide: A case report.

Published in:

Clinical Pediatric Endocrinology, 2025, v. 34, n. 1, p. 70, doi. 10.1297/cpe.2024-0056

By:

Satoko Kobayashi;
Ayami Sato;
Yumiko Chiba;
Natsuho Adachi;
Yu Kakimoto;
Hisato Suzuki;
Mamiko Yamada;
Kenjiro Kosaki;
Hiroyuki Tanaka

Publication type:

Article

The comparison of life compatibility between trisomy 2 and trisomy 21 (Down syndrome) by bioinformatic-based databases.

Published in:

European Research Journal, 2025, v. 11, n. 3, p. 527, doi. 10.18621/eurj.1583797

By:

Şahin, Elif İlknur;
Nalkıran, İhsan;
Uzuner, Selcen Çelik

Publication type:

Article

Leber hereditary optic neuropathy: utilities and carer burden from British and Irish participants.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03737-w

By:

Lawrence, Claire;
Williams, Emma;
Mumford, Andrew;
Bojakowski, Steve;
Benedicto, Julio;
Lloyd, Andrew

Publication type:

Article

The prevalence of spontaneous pneumothorax in patients with BHD syndrome: a systematic review and meta-analysis.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03726-z

By:

Zhang, Yanan;
Wang, Yuling;
Wang, Jinxia;
Li, Ping;
Lv, Ruonan;
Chen, Juan

Publication type:

Article

Identification and characterization of spontaneous AA amyloidosis in CD-1 mice used in toxicity studies: implications of SAA1 and SAA2 copy number variations.

Published in:

Journal of Toxicologic Pathology, 2025, v. 38, n. 1, p. 69, doi. 10.1293/tox.2024-0070

By:

Mao Mizukawa;
Kohei Tanaka;
Akane Kashimura;
Yu Uchida;
Takanori Shiga;
Naoyuki Aihara;
Junichi Kamiie

Publication type:

Article

Calpain1 inhibition enhances autophagy-lysosomal pathway and ameliorates tubulointerstitial fibrosis in Nephronophthisis.

Published in:

Molecular Medicine, 2025, v. 31, n. 1, p. 1, doi. 10.1186/s10020-025-01231-4

By:

Li, Dantong;
Zhang, Jinglan;
Su, Xinyu;
Yang, Yichen;
Lai, Jiayong;
Wei, Xiaoya;
Chen, Huamu;
Liu, Yaqing;
Wang, Haiyan;
Sun, Liangzhong

Publication type:

Article

Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.

Published in:

British Journal of Dermatology, 2025, v. 192, n. 5, p. 917, doi. 10.1093/bjd/ljaf015

By:

Pathmarajah, Pirunthan;
Eid, Edward;
Nazaroff, Jaron;
So, Jodi;
Mittal, Vaishali;
Harris, Nicki;
Li, Shufeng;
Lucky, Anne W;
Gorell, Emily S;
Peoples, Kathleen G;
Pope, Elena;
Lara-Corrales, Irene;
Paller, Amy S;
Wiss, Karen;
Perman, Marissa J;
Eichenfield, Lawrence F;
Levy, Moise L;
Morel, Kimberly D;
García-Romero, Maria T;
McCuaig, Catherine C

Publication type:

Article

Evaluation of the Foot Function Index in pachyonychia congenita.

Published in:

British Journal of Dermatology, 2025, v. 192, n. 5, p. 947, doi. 10.1093/bjd/ljaf006

By:

Oldham, Jaimie;
Stuart, Beth L;
McCarthy, Rebecca L;
Schwartz, Janice;
Evans, Holly;
Hansen, David;
O'Toole, Edel A

Publication type:

Article

Genome sequencing reveals novel IKBKG structural variants associated with incontinentia pigmenti.

Published in:

British Journal of Dermatology, 2025, v. 192, n. 5, p. 933, doi. 10.1093/bjd/ljae462

By:

Pipko, Neta;
Oh, Rachel Youjin;
Kaplan, Aiyana;
Shugar, Andrea;
Szuto, Anna;
Weinstein, Miriam;
Yoon, Grace;
Mendoza-Londono, Roberto;
Pope, Elena;
Young, Ted;
Marshall, Christian R;
Costain, Gregory;
Lara-Corrales, Irene;
Wang, Yiming

Publication type:

Article