Works about GENETIC disorders

Results: 5000

Antiobesity Pharmacotherapy for Patients With Genetic Obesity Due to Defects in the Leptin-Melanocortin Pathway Open Access.

Published in:

Endocrine Reviews, 2025, v. 46, n. 3, p. 418, doi. 10.1210/endrev/bnaf004

By:

Welling, Mila S;
Rossum, Elisabeth F C van;
Akker, Erica L T van den

Publication type:

Article

Endocrine Dysfunction in Primary Mitochondrial Diseases Open Access.

Published in:

Endocrine Reviews, 2025, v. 46, n. 3, p. 376, doi. 10.1210/endrev/bnaf002

By:

Varughese, Rachel;
Rahman, Shamima

Publication type:

Article

Causal Effects Between Genetically Determined Human Serum Metabolite Levels on the Risk of Idiopathic Pulmonary Fibrosis: A Mendelian Randomization Study.

Published in:

Clinical Respiratory Journal, 2025, v. 19, n. 6, p. 1, doi. 10.1111/crj.70087

By:

Shi, Yu;
Chen, Shuang;
Zhou, Zhaokai;
Huang, Mengke;
Li, Yue;
Jing, Xiaogang

Publication type:

Article

Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome‐Sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 6, p. 1, doi. 10.1002/mgg3.70108

By:

Kamps, Rick;
Martens, Herm;
de Koning, Bart;
Smeets, Bert;
van Geel, Michel

Publication type:

Article

Exploring inherited vitamin B responsive disorders in the Moroccan population: cutting-edge diagnosis via GC-MS profiling.

Published in:

Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2025, v. 50, n. 3, p. 455, doi. 10.1515/tjb-2025-0081

By:

Najeh, Samira;
Sabir, Es-Said;
Assiri, Imane;
Hammoud, Miloud;
Lafhal, Karima;
Jakani, Maroua;
Berrachid, Abdelaati;
Choubbane, Hanane;
Baki, Zakaria;
Sbyea, Safya;
Baki, Salwa;
Qorchi, Hajar;
Aallam, Mina;
Kissani, Najib;
Gebrati, Lhoucine;
El Amiri, My Ahmed;
Outzourhit, Abdelkader;
Fdil, Naima

Publication type:

Article

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1564343

By:

Li, Haomiao;
Zhang, Shengnan;
Zhou, Wei;
Wang, Chunli;
Zhu, Chunhua;
Zhao, Sanlong;
Zhao, Fei;
Jia, Zhanjun;
Zhang, Aihua;
Zheng, Bixia;
Ding, Guixia

Publication type:

Article

Are we ACE-ing the early treatment of Alport syndrome?

Published in:

2025

By:

Williamson, Samantha J.;
Liebau, Max;
Lennon, R.Rachel

Publication type:

Letter

Hereditary pontine and extrapontine brain malformations in Brazilian Tabapuã cattle.

Published in:

Veterinary Pathology, 2025, v. 62, n. 4, p. 532, doi. 10.1177/03009858241300552

By:

Dutra, Lucas da Costa;
Simões, Sara Vilar Dantas;
Lucena, Ricardo Barbosa de;
Alcindo, Jefferson Filgueira;
Medeiros, Gildenor X.;
Summers, Brian A.;
Riet-Correa, Franklin

Publication type:

Article

Amyotrophic Lateral Sclerosis.

Published in:

Radiologic Technology, 2025, v. 96, n. 6, p. 441

By:

Weber, Daria

Publication type:

Article

Genetic syndromes associated with pancreatic neuroendocrine neoplasms and imaging diagnostic strategies.

Published in:

Abdominal Radiology, 2025, v. 50, n. 7, p. 3187, doi. 10.1007/s00261-024-04764-0

By:

Liu, Jiawei;
Ling, Jian;
Li, Lujie;
Wu, Yuxin;
Song, Chenyu;
Shi, Siya;
Dong, Zhi;
Wang, Jifei;
Tang, Mimi;
Feng, Shi-Ting;
Luo, Yanji;
Xu, Danyang

Publication type:

Article

Tuberous Sclerosis Complex Caused by TSC2 Inversion and Deletions Identified Using Whole-genome Sequencing: A Case Study.

Published in:

Annals of Laboratory Medicine, 2025, v. 45, n. 4, p. 463, doi. 10.3343/alm.2025.0063

By:

DongJu Yoon;
Jung Ah Kwon;
Soo-Young Yoon;
Baik-Lin Eun;
Jung Yoon

Publication type:

Article

Linear hypermelanosis in narrow bands: a mosaic pattern manifestation of dyskeratosis congenita?

Published in:

British Journal of Dermatology, 2025, v. 193, n. 1, p. 178, doi. 10.1093/bjd/ljaf091

By:

Mo, Ran;
Xu, Mingming;
Chen, Zhiming;
Xiang, Ruiyu;
Li, Xiaofang;
Li, Hongyang;
Zhang, Guoyi;
Sun, Jianfang;
Zhang, Wei;
Yang, Yong

Publication type:

Article

PIVKA-II as a biomarker in pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency: implications for vitamin K therapy.

Published in:

British Journal of Dermatology, 2025, v. 193, n. 1, p. 171, doi. 10.1093/bjd/ljaf078

By:

Miyamoto, Suzuka;
Shinkuma, Satoru;
Yada, Koji;
Hamada, Kengo;
Ogawa, Kohei;
Nogami, Keiji;
Asada, Hideo

Publication type:

Article

Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis.

Published in:

British Journal of Dermatology, 2025, v. 193, n. 1, p. 136, doi. 10.1093/bjd/ljaf062

By:

Wang, Zijuan;
Liu, Jun;
Wechsberg, Oded;
Liang, Lina;
Keegan, Catherine E;
Sloan-Heggen, Christina;
Mo, You;
Luo, Yangyang;
Wang, Huijun;
Lin, Zhimiao

Publication type:

Article

Haplotype structure and heterozygosity around the fragile foal syndrome variant in Swedish Warmblod horses.

Published in:

Animal Genetics, 2025, v. 56, n. 3, p. 1, doi. 10.1111/age.70022

By:

Ablondi, Michela;
Eriksson, Susanne;
Mikko, Sofia

Publication type:

Article

The First Observation and Diagnosis of Nail‐Patella Syndrome Using LV‐SEM: GBM Abnormalities Mimicking Alport Syndrome.

Published in:

Nephrology, 2025, v. 30, n. 6, p. 1, doi. 10.1111/nep.70062

By:

Ito, Hiroki;
Ishiyama, Katsuya;
Hirose, Takuo;
Sato, Shigemitsu;
Ishikawa, Risa;
Endo, Akari;
Oba‐Yabana, Ikuko;
Kimura, Tomoyoshi;
Yumura, Wako;
Mori, Takefumi

Publication type:

Article

SGCE Myoclonus Dystonia: A Case Report.

Published in:

Ethiopian Journal of Health Sciences, 2025, v. 35, n. 3, p. 222, doi. 10.4314/ejhs.v35i3.11

By:

Deginet, Endayen;
Tewoflos, Melatemariam;
Abebe, Yared Nigusie

Publication type:

Article

Considerations and procedures for acquiring EEG as part of multi-site studies for Rett syndrome and other genetic neurodevelopmental disorders.

Published in:

Frontiers in Integrative Neuroscience, 2025, p. 1, doi. 10.3389/fnint.2025.1574758

By:

Saby, Joni N.;
Marsh, Eric D.

Publication type:

Article

Editorial: Neurobiological underpinnings of neurodegenerative and neuropsychiatric disorders: from models to therapy.

Published in:

Frontiers in Neuroscience, 2025, p. 1, doi. 10.3389/fnins.2025.1627262

By:

Di Cunto, Ferdinando;
Catania, Maria Vincenza;
Simola, Nicola;
Mingardi, Jessica;
Serra, Marcello;
Campanelli, Federica

Publication type:

Article

A Case Study of Liver After Kidney Transplantation: Addressing Polycystic Diseases With Tailored Surgical and Postoperative Approaches.

Published in:

2025

By:

Sun, Chengjun;
Du, Yang;
Han, Ming;
Shi, Shaojun;
Wu, Linwei

Publication type:

Case Study

Understanding Quality of Life in Hereditary Angioedema: Insights from Recent Research.

Published in:

Asthma Allergy Immunology / Astim Allerji Immunoloji, 2025, v. 23, n. 1, p. 3, doi. 10.21911/aai.2025.643

By:

OZDEL OZTURK, Betul;
SOYYIGIT, Sadan

Publication type:

Article

ASSOCIATION OF FV G1691A, FV H1299R, AND FII G20210A VARIATIONS WITH THROMBOSIS AND CORONARY ARTERY DISEASE (CAD): A POPULATION-BASED STUDY.

Published in:

Journal of Medical Biochemistry, 2025, v. 44, n. 3, p. 447, doi. 10.5937/jomb0-39668

By:

Özmen, Sevda Ünallı;
Özarda, Yeşim;
Köseler, Aylin;
Sabırlı, Ramazan;
Derya, Sucu Kaynak;
Koç, Ibrahim

Publication type:

Article

Waardenburg Syndrome in a Family.

Published in:

International Journal of Trichology, 2025, v. 17, n. 1, p. 73, doi. 10.4103/ijt.ijt_134_22

By:

Niveditha, M.;
Prathap, Priya;
Asokan, Neelakandhan

Publication type:

Article

Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child.

Published in:

2025

By:

Minh-Phu, Nguyen;
Giang, Nguyen Hanh;
Ngan-Ha, Nguyen;
Thu, Nguyen Huu Hong;
Ha, Nguyen Hai

Publication type:

Case Study

Diyarbakır İli ve Çevresi Down Sendromlu Olguların Büyüme Parametrelerinin Değerlendirilmesi; Tek Merkez Deneyimi.

Published in:

Dicle Medical Journal / Dicle Tip Dergisi, 2025, v. 52, n. 1, p. 155, doi. 10.5798/dicletip.1657573

By:

Esener, Zeynep;
Ünal, Aysel Tekmenuray;
Baş, Hasan;
Doğan, Yunus Emre

Publication type:

Article

Primary hyperoxaluria in an adult presenting with end-stage renal failure together with hypercalcemia and hypothyroidism.

Published in:

Hemodialysis International, 2011, v. 15, n. 4, p. 573, doi. 10.1111/j.1542-4758.2011.00573.x

By:

KARADAG, Serhat;
GURSU, Meltem;
AYDIN, Zeki;
UZUN, Sami;
DOGAN, Oner;
OZTURK, Savas;
KAZANCIOGLU, Rumeyza

Publication type:

Article

Functional capacity evaluation of patients with mucopolysaccharidosis.

Published in:

Journal of Pediatric Rehabilitation Medicine, 2012, v. 5, n. 1, p. 37, doi. 10.3233/prm-2012-0194

By:

Guarany, Nicole Ruas;
Schwartz, Ida Vanessa D.;
Guarany, Fábio Coelho;
Giugliani, Roberto

Publication type:

Article

Adaptation of home nocturnal hemodialysis for a patient with epidermolysis bullosa: A call to personalized care!

Published in:

2023

By:

Faratro, Rose;
Chan, Christopher T.

Publication type:

Case Study

Life After BRCA1/2 Testing: Family Communication and Support Issues.

Published in:

Breast Disease, 2007, v. 27, n. 1, p. 127

By:

Peshkin, Beth N.;
DeMarco, Tiffani A.;
McKinnon, Wendy C.

Publication type:

Article

Genetics and the Young Woman with Breast Cancer.

Published in:

Breast Disease, 2005, v. 23, n. 1, p. 17

By:

Evans, James P.;
Skrzynia, Cécile;
Susswein, Lisa;
Harlan, Megan

Publication type:

Article

Coexistence of Griscelli Syndrome Type 2 and Autosomal Recessive Congenital Ichthyosis in an Indian Girl.

Published in:

2025

By:

Doshi, Yashika Jayesh;
Sethi, Hitaishi;
Shah, Bela J

Publication type:

Case Study

Bilateral Hearing Loss in a Pallister–Killian Syndrome Patient.

Published in:

2025

By:

Yagcioglu, Aysenur Aykul;
Ozses, Merve;
Cinar, Betul Cicek

Publication type:

Case Study

Parkinson's Disease is Predominantly a Genetic Disease.

Published in:

Journal of Parkinson's Disease, 2024, v. 14, n. 3, p. 467, doi. 10.3233/JPD-230376

By:

Lim, Shen-Yang;
Klein, Christine

Publication type:

Article

Early-Onset Parkinson's Disease: Creating the Right Environment for a Genetic Disorder.

Published in:

Journal of Parkinson's Disease, 2022, v. 12, n. 8, p. 2353, doi. 10.3233/JPD-223380

By:

Kolicheski, Ana;
Turcano, Pierpaolo;
Tamvaka, Nicole;
McLean, Pamela J.;
Springer, Wolfdieter;
Savica, Rodolfo;
Ross, Owen A.

Publication type:

Article

Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease.

Published in:

Journal of Parkinson's Disease, 2019, v. 9, n. 1, p. 203, doi. 10.3233/JPD-171292

By:

Cali, Francesco;
Cantone, Mariagiovanna;
Cosentino, Filomena Irene Ilaria;
Lanza, Giuseppe;
Ruggeri, Giuseppa;
Chiavetta, Valeria;
Salluzzo, Roberto;
Ragalmuto, Alda;
Vinci, Mirella;
Ferri, Raffaele

Publication type:

Article

The history of progressive myoclonus epilepsies.

Published in:

Epileptic Disorders, 2016, v. 18, p. S3, doi. 10.1684/epd.2016.0834

By:

Genton, Pierre;
Striano, Pasquale;
Minassian, Berge A.

Publication type:

Article

Epilepsy in KCNH1-related syndromes.

Published in:

Epileptic Disorders, 2016, v. 18, n. 2, p. 123, doi. 10.1684/epd.2016.0830

By:

Mastrangelo, Mario;
Scheffer, Ingrid E.;
Bramswig, Nuria C.;
Nair, Lal. D.V.;
Myers, Candace T.;
Dentici, Maria Lisa;
Korenke, Georg C.;
Schoch, Kelly;
Campeau, Philippe M.;
White, Susan M.;
Shashi, Vandana;
Kansagra, Sujay;
Van Essen, Anthonie J.;
Leuzzi, Vincenzo

Publication type:

Article

Myoclonic reflex and non‐reflex seizures in a female child with Coffin–Lowry syndrome: Clinical vignette.

Published in:

Epileptic Disorders, 2025, v. 27, n. 2, p. 299, doi. 10.1002/epd2.20335

By:

Pantani, Agnese;
Rizzi, Susanna;
Spagnoli, Carlotta;
Cesaroni, Carlo Alberto;
Cavalli, Anna;
Caraffi, Stefano Giuseppe;
Peruzzi, Adelaide;
Peluso, Francesca;
Russo, Roberta;
Scala, Iris;
Zuntini, Roberta;
Garavelli, Livia;
Frattini, Daniele;
Fusco, Carlo

Publication type:

Article

Near SUDEP in a patient with craniosynostosis syndrome and temporal lobe encephaloceles.

Published in:

Epileptic Disorders, 2025, v. 27, n. 1, p. 111, doi. 10.1002/epd2.20304

By:

Ta, Joseph;
Smith, Christopher;
Finley, Nyasia Mayaudon;
Gallagher, Martin;
LaGrange, Andre;
Lowen, Kelly;
Meyer, Trevor;
Ganesh, Vivek;
Shah, Jay V.;
Nobis, William

Publication type:

Article

Non‐epileptic stimulus‐sensitive myoclonus in a newborn with developmental and epileptic encephalopathy associated with the SCN8A gene.

Published in:

Epileptic Disorders, 2024, v. 26, n. 6, p. 892, doi. 10.1002/epd2.20290

By:

Calligaris, Silvana;
Juanes, Matias;
Touzon, Maria S.;
Altamirano, Lorena;
Loos, Mariana;
Reyes Valenzuela, Gabriela;
Albino, Vinicio;
Armeno, Marisa;
Caraballo, Roberto

Publication type:

Article

Ictal asystole and increased ictal heart rate variability in PCDH19‐related epilepsy.

Published in:

Epileptic Disorders, 2024, v. 26, n. 6, p. 882, doi. 10.1002/epd2.20281

By:

Nguyen, Audrey;
Eberhard, Ralf;
Simard‐Tremblay, Elisabeth;
Myers, Kenneth A.

Publication type:

Article

Epilepsy with eyelid myoclonia in a patient with ATP1A3‐related neurologic disorder.

Published in:

Epileptic Disorders, 2024, v. 26, n. 6, p. 847, doi. 10.1002/epd2.20272

By:

Mertens, Ann;
Papadopoulou, Maria T.;
Papathanasiou Terzi, Matthildi Athina;
Lesca, Gaëtan;
Biela, Mateusz;
Smigiel, Robert;
Panagiotakaki, Eleni

Publication type:

Article

Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?

Published in:

Epileptic Disorders, 2024, v. 26, n. 4, p. 520, doi. 10.1002/epd2.20242

By:

Di Micco, Valentina;
Affronte, Leonardo;
Khinchi, Marianne Søndergaard;
Rønde, Gitte;
Miranda, Maria Jose;
Hammer, Trine Bjørg;
Specchio, Nicola;
Beniczky, Sándor;
Olofsson, Kern;
Møller, Rikke S.;
Gardella, Elena

Publication type:

Article

Sudden Cardiac Arrest in an Adolescent with X-Linked Ichthyosis.

Published in:

Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2025, v. 29, n. 6, p. 321, doi. 10.14744/AnatolJCardiol.2025.4903

By:

Mutlu, Hatice;
Kayıhan, Can;
Ay, Arzu;
Havan, Merve;
Ramoğlu, Mehmet Gökhan;
Uçar, Tayfun;
Kendirli, Tanıl

Publication type:

Article

Diagnosis, management and treatment of the Alport syndrome – 2024 guideline on behalf of ERKNet, ERA and ESPN Open Access.

Published in:

Nephrology Dialysis Transplantation, 2025, v. 40, n. 6, p. 1091, doi. 10.1093/ndt/gfae265

By:

Torra, Roser;
Lipska-Zietkiewicz, Beata;
Acke, Frederic;
Antignac, Corinne;
Becker, Jan Ulrich;
Gall, Emilie Cornec-Le;
Eerde, Albertien M van;
Feltgen, Nicolas;
Ferrari, Rossella;
Gale, Daniel P;
Gear, Susie;
Gross, Oliver;
Haeberle, Stefanie;
Heidet, Laurence;
Lennon, Rachel;
Massella, Laura;
Pfau, Kristina;
Pizarro, Maria del Prado Venegas;
Topaloglu, Rezan;
Wlodkowski, Tanja

Publication type:

Article

Colchicine as a treatment option for inherited epidermolysis bullosa.

Published in:

Clinical & Experimental Dermatology, 2025, v. 50, n. 6, p. 1238, doi. 10.1093/ced/llaf016

By:

Sarsam, Sera;
Koszegi, Ben J;
Murrell, Dedee F

Publication type:

Article

A striking hand phenotype and guselkumab efficacy in NIPAL4-linked autosomal recessive congenital ichthyosis.

Published in:

Clinical & Experimental Dermatology, 2025, v. 50, n. 6, p. 1232, doi. 10.1093/ced/llae552

By:

Klapproth, Henning;
Rauterberg, Jonas;
Koll, Philipp;
Soellner, Lukas;
Neumayer, Daniela;
Fischer, Judith;
Tantcheva-Poór, Iliana

Publication type:

Article

A paediatric case of multiple pilomatricomas: assessing the risk of genetic disorders.

Published in:

Clinical & Experimental Dermatology, 2025, v. 50, n. 6, p. 1217, doi. 10.1093/ced/llae461

By:

Nakaso, Soma;
Ishii, Nobuaki;
Akimoto, Masataka;
Ogawa, Rei

Publication type:

Article

Surgical dilemmas in Gardner syndrome: infiltrative basal cell carcinoma and total knee prosthesis failure.

Published in:

2025

By:

Diaz, Q Carlos;
Argueta, Victor H;
Chajon, Pedro;
Argueta, Andrea

Publication type:

Case Study

Genetics Corner: Minireview: Fractures in the Extremely Premature infant: Distinguishing Metabolic Bone Disease of Prematurity versus Osteogenesis Imperfecta.

Published in:

Neonatology Today, 2025, v. 20, n. 5, p. 181

By:

Hua Wang

Publication type:

Article