Works matching DE "GENETIC disorders"

Results: 5000

Safety and Feasibility of Early Targeted Neonatal Echocardiography and a Focused Assessment Protocol in Neonates With Congenital Diaphragmatic Hernia.

Published in:

Echocardiography, 2025, v. 42, n. 5, p. 1, doi. 10.1111/echo.70189

By:

Wren, John T.;
Hyland, Rachael M.;
Acosta, Stephanie;
McNamara, Patrick J.

Publication type:

Article

Leukocytoclastic Vasculitis in IL-12RB1 deficiency: a rare manifestation of Mendelian susceptibility to mycobacterial disease.

Published in:

Oxford Medical Case Reports, 2025, v. 2025, n. 4, p. 1, doi. 10.1093/omcr/omaf069

By:

AlKanaan, Renad;
Almufadhi, Abdulaziz;
Alkahtani, Rema S;
Alzouman, Muneerah A;
Alqubaisy, Yasser;
Alharthi, Fahad

Publication type:

Article

Aase-Smith syndrome type 2 with new neurological findings.

Published in:

Oxford Medical Case Reports, 2025, v. 2025, n. 4, p. 1, doi. 10.1093/omcr/omaf006

By:

Aljarad, Sarah;
Alhamid, Ahmad;
Hanifa, Hamdah;
Zayegh, Obada;
Ataya, Jamal;
Aljarad, Ziad

Publication type:

Article

Immune thrombocytopenia in Kabuki syndrome, a comparison with non-Kabuki cases in the UK paediatric ITP registry.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03743-y

By:

Reynolds, Lianna;
Williams, Benjamin;
Gurumurthy, Gerard;
Grainger, John

Publication type:

Article

Oral health care pathways for patients with epidermolysis bullosa: A position statement from the European reference network for rare skin diseases.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2025, v. 39, n. 6, p. 1080, doi. 10.1111/jdv.20498

By:

Krämer, S.;
Hillebrecht, A. L.;
Bekes, K.;
Bücher, K.;
Clark, V.;
Haririan, H.;
Jakowski, J.;
Joseph, C.;
Meißner, N.;
Monteiro, J.;
Porter, S.;
Schilke, R.;
Veliz, S.;
Verhaeghe, V.;
Vinereanu, A.;
Bolling, M. C.;
Diem, A.;
Mellerio, J. E.;
Bodemer, C.;
Has, C.

Publication type:

Article

Bibliometric Analysis of Genetic Variations in Schizophrenia.

Published in:

Jordan Medical Journal, 2025, v. 59, n. 2, p. 274, doi. 10.35516/jmj.v59i2.259

By:

Azman, Norainin Sofiya;
Abd Rahim, Nour El Huda;
Abdull Jalil, Mohd Asyraf;
Talib, Norlelawati A.;
Mat Rasid, Siti Norain;
Salahudin Wan Salleh, Wan Muhamad;
Arifin, Kaderi Mohd;
Ahmad Nabil, Md Rosli;
Norbaiyah, Mohamed Bakrim

Publication type:

Article

The Multifaceted Nature of Tuberous Sclerosis Complex.

Published in:

Sultan Qaboos University Medical Journal, 2025, v. 25, n. 1, p. 300, doi. 10.18295/2075-0528.2827

By:

Khan, Saif A.;
Baig, Amanullah;
Riyami, Dawood

Publication type:

Article

Caracterización de los trastornos de pigmentación y la hipoacusia en casos con síndrome de Waardenburg.

Published in:

Revista de Ciencias Médicas de Pinar del Río, 2024, v. 28, n. 1, p. 1

By:

Castro Pérez, Fidel;
Michel Santalla-Labrador, Yohan

Publication type:

Article

ASSESSING KNOWLEDGE, AWARENESS, AND PERCEPTION OF GENETIC TESTING FOR HEREDITARY DISORDERS IN COMPANION ANIMALS AMONG PET OWNERS IN KLANG VALLEY.

Published in:

Jurnal Veterinar Malaysia, 2024, v. 36, n. 2, p. 36

By:

SALISI, M. S.;
AMALIA, A.;
AJAT, M. M.;
KADIR, A. ABDUL;
RADZI, R.;
PANHWAR, M. IBRAHIM

Publication type:

Article

Complete defect in PA-PLA<sub>1</sub>α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1591409

By:

Zhang, Xinyue;
Guo, Kexin;
Liu, Jiawei;
Yang, Xueting;
Zhang, Rui;
Wang, Rongrong;
Ma, Donglai;
Zhang, Xue

Publication type:

Article

A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1572487

By:

Lin, Tao;
Chen, Zheyan;
Dong, Biwen;
Pan, Haojie;
Wang, Hai;
Zheng, Xianjue;
Chen, Kaixin;
Lai, Yanan;
Zhang, Chenhui;
Dong, Ye;
Xu, Zitong;
Lin, Menmen;
Xi, Xiujie;
Xia, Shuqi;
Wang, Yimin;
Wang, Wenhan;
Li, Xiaoqing;
Sun, Congcong;
Hu, Yanjun;
Xu, Fang

Publication type:

Article

Opportunities amid complexities in returning genetic results to black precision medicine research participants: Interview themes in context with open all of us data.

Published in:: Journal of Clinical & Translational Science, 2025, v. 9, n. 1, p. 1, doi. 10.1017/cts.2025.67
Publication type:: Article

Neonatal Hydrocolpos in Bardet-Biedl Syndrome due to a Novel Frameshift Indel in the BBS10 Gene.

Published in:

2024

By:

Palma Sircili, Maria Helena;
Batista, Rafael Loch;
Barreto, Enoch Quindere de Sá;
Bueno, Solange Paiva;
Figueredo Benedetti, Anna Flávia;
Craveiro, Flora Ladeira;
Ramos, Raquel Matinez;
Monteiro Filho, Marcelo Praxedes;
Domenice, Sorahia;
Mendonca, Berenice Bilharinho;
Dénes, Francisco Tibor

Publication type:

Case Study

Posters: The use of bone-conduction implants in patients with rare genetic syndromes associated with ear malformations.

Published in:

Journal of Hearing Science, 2025, v. 15, n. 1, p. 118

By:

Skarzynski, P. H.;
Cywka, K. B.;
Czaplicka, E.;
Skarzynski, H.

Publication type:

Article

Oral Presentations: Results of cochlear implantation in patients with congenital rubella.

Published in:

Journal of Hearing Science, 2025, v. 15, n. 1, p. 110

By:

Kolodziejak, A.;
Skarzynski, P. H.;
Czajka, N.;
Zdanowicz, R.;
Skarzyhnski, H.

Publication type:

Article

Anti-sickling potential and bioactive metabolites from edible oil-yielding crop Guizotia abyssinica (L.f.) Cass.

Published in:

Notulae Scientia Biologicae, 2025, v. 17, n. 1, p. 1, doi. 10.55779/nsb17112164

By:

CHAMBHARE, Mahadev R.;
KADAM, Nitin S.;
DOSHI, Pooja J.;
KATE, Sudam L.;
NIKULE, Harichandra A.;
NIKAM, Tukaram D.

Publication type:

Article

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

Anemia in patients with cartilage hair hypoplasia: a narrative review and recommendations.

Published in:

Laboratory Medicine, 2025, v. 56, n. 3, p. 213, doi. 10.1093/labmed/lmae082

By:

Lewandowska, Natalia;
Ordak, Michal

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

Pristup liječenju kronične srčane insuficijencije u djece.

Published in:

Paediatria Croatica, 2025, v. 69, p. 253, doi. 10.13112/pc.1079

By:

Čače, Neven

Publication type:

Article

Kada ima smisla učiniti genetičku obradu u djece oboljele od malignih bolesti?

Published in:

Paediatria Croatica, 2025, v. 69, p. 66, doi. 10.13112/pc.1053

By:

Žigman, Tamara;
Tečer, Ivan;
Bobić-Rasonja, Mihaela

Publication type:

Article

Liječenje pacijenata s ahondroplazijom u Republici Hrvatskoj - prva iskustva i rezultati.

Published in:

Paediatria Croatica, 2025, v. 69, p. 108, doi. 10.13112/pc.1057

By:

Kero, Mijana

Publication type:

Article

Dijagnostičke mogućnosti u kliničkoj genetici danas i kako tumačiti nalaz.

Published in:

Paediatria Croatica, 2025, v. 69, p. 3, doi. 10.13112/pc.1042

By:

Pušeljić, Silvija;
Perić, Nora;
Kuna, Ema;
Maloča, Toni;
Tomac, Višnja;
Pušeljić, Nika;
Perić, Luka

Publication type:

Article

Incidence Rate of Various Types of Leukemia in Children at Bandar Abbas Children's Hospital: A Brief Report of Half a Decade.

Published in:

Caspian Journal of Pediatrics, 2024, v. 10, p. 1

By:

Molavi, Mohammad Ali;
Ghorabi, Samaneh Tahmasebi;
Saleh, Fazl;
Qeshmi, Abdolmajid Nazemi;
Mazloomi, Seyede Saba;
Mahmoodi, Masoumeh;
Rouzbahani, Arian Karimi

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 new association between Kleefstra syndrome and Panayiotopoulos epilepsy.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-01982-0

By:

Giliberti, Alessandra;
Giustiniano, Stefania;
Carbonaro, Ylenia;
Frisina, Adele Maria;
Roccella, Michele;
Serra, Gregorio;
Nardello, Rosaria

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