Works matching DE "CONGENITAL disorders"

Results: 5000

Mothers' perspectives on the use and acceptability of 3d printed prosthesis by their children with congenital upper limb difference in India: a qualitative study.

Published in:

Disability & Rehabilitation, 2025, v. 47, n. 13, p. 3459, doi. 10.1080/09638288.2024.2421431

By:

Dimintiyanova, Oksana Yakova;
Meershoek, Agnes;
de Kuyper, Nicolai Henri;
Rao, Arathi P.;
Bhat, Anil K.

Publication type:

Article

Human glycosylation disorders.

Published in:

Cancer Biomarkers, 2014, v. 14, n. 1, p. 3, doi. 10.3233/CBM-130374

By:

Krasnewich, Donna

Publication type:

Article

A novel GRIN2B variant (p.F1340V) causes a severe neurodevelopmental disorder with refractory epileptic spasms.

Published in:

Epileptic Disorders, 2024, v. 26, n. 3, p. 395, doi. 10.1002/epd2.20210

By:

Kolosky, Taylor;
Erdemir, Gozde

Publication type:

Article

Infected Thyroglossal Duct Cyst with an Emergent Airway Threat.

Published in:

Turkish Archives of Otorhinolaryngology, 2025, v. 63, n. 1, p. 1, doi. 10.4274/tao.2025.2024-12-4

By:

Lee, Teng Huei;
Anbalagan, Shangeetha;
Kalimuthu, Santhi;
Umbaik, Norsyamira Aida Mohamad

Publication type:

Article

Анестезия за родоразрешение при съпътстващ сърдечен порок с дясно-ляв шънт.

Published in:

Medical Review / Meditsinski Pregled, 2025, v. 61, n. 4, p. 44

By:

Penev, G.;
Karjin, E.

Publication type:

Article

Transcatheter patent ductus arteriosus closure in a syndromic patient with interrupted inferior vena cava: overcoming anatomical challenges.

Published in:

Cardiology in the Young, 2025, v. 35, n. 5, p. 1076, doi. 10.1017/S1047951125001416

By:

Sayici, Ilker Ufuk;
Altinbezer, Pelin;
Örün, Utku Arman

Publication type:

Article

Investigating the possible connection between cystic hygroma, nuchal translucency, and the genetic link underlying cardiac lymphatic abnormalities and congenital heart disease: is there an association?

Published in:

Cardiology in the Young, 2025, v. 35, n. 5, p. 931, doi. 10.1017/S1047951125001404

By:

Loukas, Marios;
Gupta, Ishank;
Wilson, Brenna;
Joseph, Shamfa;
Levene, Rachel;
Montalbano, Michael

Publication type:

Article

Azygos lobe mimicking pneumothorax in trauma: a case report.

Published in:

2025

By:

Alruways, Abdullah;
Alharbi, Nader;
Alharbi, Turki;
Alotaibi, Faisal;
Aloraini, Ahmed;
Alharbi, Nawaf

Publication type:

Case Study

Bilateral persistent sciatic artery presenting as critical limb ischemia: a case report and review of literature.

Published in:

2025

By:

Hashem, Wael;
Khalili, Hasan;
Salameh, Hossam

Publication type:

Case Study

Utility of the acute illness observational scale in predicting pneumonia outcomes in children.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2025, v. 74, n. 1, p. 27, doi. 10.37897/RJP.2025.1.4

By:

Krishna, M. Venkata;
Lakshmi, P. Muni

Publication type:

Article

Potassium current inactivation as a novel pathomechanism for KCNQ2 developmental and epileptic encephalopathy.

Published in:

Epilepsia (Series 4), 2025, v. 66, n. 6, p. e98, doi. 10.1111/epi.18427

By:

Gaspar, Ingride Luzio;
Terrone, Gaetano;
Carleo, Giusy;
Carotenuto, Lidia;
Miceli, Francesco;
De Vita, Gabriella;
Taglialatela, Maurizio

Publication type:

Article

Seminal vesicle status and its association with semen parameters in congenital bilateral absence of the vas deferens (CBAVD).

Published in:

Basic & Clinical Andrology, 2025, v. 35, n. 1, p. 1, doi. 10.1186/s12610-025-00267-0

By:

Shamohammadi, Iman;
Haghpanah, Abdolreza;
Eslahi, Ali;
Sadighi Gilani, Mohammad Ali;
Adib, Ali;
Kashfi, Seyyed Sadra

Publication type:

Article

Reconstruction of a Sternal Cleft and Ventral Hernia in an Adolescent with Pentalogy of Cantrell Utilizing Titanium Plates.

Published in:

2025

By:

Frederick, Allison B.;
Camilon, Terence J.;
Eriksson, Evert A.;
Kavarana, Minoo N.;
Streck, Christian J.

Publication type:

Case Study

Mass spectrometry-based discovery and diagnostic validation of T. cruzi antigens in the urine of congenitally infected Chagas Disease patients.

Published in:

PLoS Neglected Tropical Diseases, 2025, v. 19, n. 6, p. 1, doi. 10.1371/journal.pntd.0013082

By:

Cassels, Kathryn;
Almofeez, Raghad;
Roman, Jessica;
Steinberg, Hannah;
Byne, Ahana;
Haymond, Amanda;
Tinajeros, Freddy;
Del Carmen Menduiña, María;
Málaga Machaca, Edith;
Verástegui, Manuela;
Ramírez, José Luis;
Liotta, Lance;
Gilman, Robert H.;
Luchini, Alessandra

Publication type:

Article

Congenital Rubella Syndrome in the Post-Elimination Era: Why Vigilance Remains Essential.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 11, p. 3986, doi. 10.3390/jcm14113986

By:

De Melo, Livian Cássia;
Rugna, Marina Macruz;
Durães, Talita Almeida;
Pereira, Stefany Silva;
Callado, Gustavo Yano;
Pires, Pedro;
Traina, Evelyn;
Araujo Júnior, Edward;
Granese, Roberta

Publication type:

Article

Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 11, p. 3704, doi. 10.3390/jcm14113704

By:

Serra, Gregorio;
Notarbartolo, Veronica;
Antona, Vincenzo;
Cacace, Caterina;
Di Pace, Maria Rita;
Morreale, Daniela Mariarosa;
Pensabene, Marco;
Piro, Ettore;
Schierz, Ingrid Anne Mandy;
Sergio, Maria;
Valenti, Giuseppina;
Giuffrè, Mario;
Corsello, Giovanni

Publication type:

Article

Review of Four Refined Clinical Entities in Hereditary Retinal Disorders from Japan.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5166, doi. 10.3390/ijms26115166

By:

Miyake, Yozo

Publication type:

Article

Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 673, doi. 10.1111/cge.14695

By:

Saad, Ahmed K.;
Hassan, Nagwa H.;
Soliman, Hala N.;
Zaki, Maha S.;
Senousy, Sameh M.;
El‐dessouky, Sara H.

Publication type:

Article

Mid‑trimester ultrasound findings in tricho‑hepato‑enteric syndrome: A case report.

Published in:

Biomedical Reports, 2025, v. 23, n. 1, p. N.PAG, doi. 10.3892/br.2025.1988

By:

Mainas, Alexandros;
Maina, Anna;
Ziogas, Nikolaos;
Papoulidis, Ioannis;
Athanasiadis, Apostolos

Publication type:

Article

Integrating infectious diseases into life course epidemiology Open Access.

Published in:

International Journal of Epidemiology, 2025, v. 54, n. 3, p. 1, doi. 10.1093/ije/dyaf059

By:

Paixao, Enny S;
Lawlor, Deborah A;
Barreto, Mauricio L;
Rodrigues, Laura C

Publication type:

Article

Identification of a Novel TP63 Variant in a Chinese Patient with Orofacial Clefts and Ectrodactyly: Case Report and Literature Review.

Published in:

Cleft Palate Craniofacial Journal, 2025, v. 62, n. 7, p. 1263, doi. 10.1177/10556656241241132

By:

Jiang, Leheng;
Jiang, Chanyuan;
Song, Tao;
Wang, Yongqian;
Si, Nuo;
Li, Haidong;
Yin, Ningbei

Publication type:

Article

Prevalence and trends of major congenital anomalies in Brazil: A study from 2011 to 2020.

Published in:

PLoS ONE, 2025, v. 20, n. 6, p. 1, doi. 10.1371/journal.pone.0323654

By:

Silvestri Melkan, Mariana Pereira Inácio;
Ferreira, Ornella Scardua;
Bassan, Livia Carolina Leonardo;
Brizot, Maria de Lourdes;
Francisco, Rossana Pulcineli Vieira;
Rodrigues, Agatha Sacramento;
Azevedo Carvalho, Mariana

Publication type:

Article

Intrauterine Toxoplasma infection – prenatal fetal ultrasound abnormalities and postnatal neonatal symptoms: Review of the literature and metaanalysis.

Published in:

Magyar Nőorvosok Lapja, 2025, v. 88, n. 2, p. 95

By:

Tűzkő, Nándor;
Bartek, Virág;
Beke, Artúr;
Ács, Nándor

Publication type:

Article

Evaluation of Gram-negative hospital-acquired infections and antibiotic resistance in the pediatric intensive care unit.

Published in:

Journal of Infection in Developing Countries, 2025, v. 19, n. 5, p. 747, doi. 10.3855/jidc.20437

By:

Özmen, Berfin Özgökçe;
Şengül, Merve Türkegün;
Ozdem, Suna;
Aldaş, Sefika;
Katlan, Banu

Publication type:

Article

Neonatal Inflammation and Feeding Disorders at 1 Year in Infants With Congenital Gastrointestinal Malformations.

Published in:

Acta Paediatrica, 2025, v. 114, n. 7, p. 1702, doi. 10.1111/apa.70025

By:

Mastropietro, Cristina;
Dimino, Gaia;
Vinit, Nicolas;
Quetin, Fredérique;
Rousseau, Véronique;
Sartorius, Victor;
Kermorvant‐Duchemin, Elsa;
Lapillonne, Alexandre

Publication type:

Article

Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith–Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted region.

Published in:

Clinical Epigenetics, 2025, v. 17, n. 1, p. 1, doi. 10.1186/s13148-025-01907-y

By:

Urakawa, Tatsuki;
Kanamaru, Yuri;
Amano, Naoko;
Uchida, Akira;
Fukami, Maki;
Kagami, Masayo

Publication type:

Article

Drug Induced Sleep Endoscopy in a Child with Poland's Syndrome: A Clinical Challenge.

Published in:

Indian Journal of Otolaryngology & Head & Neck Surgery, 2025, v. 77, n. 7, p. 2689, doi. 10.1007/s12070-025-05563-9

By:

Chowdhary, Stuti;
Asif, Syed Kamran;
Williams, Aparna

Publication type:

Article

A New Variant in the GATA6 Gene Associated with Tracheoesophageal Fistula, Pulmonary Vein Stenosis, and Neonatal Diabetes.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 3, p. 282, doi. 10.1159/000536621

By:

Pugnaloni, Flaminia;
Martini, Ludovica;
De Rose, Domenico Umberto;
Landolfo, Francesca;
Giliberti, Paola;
Ruta, Rosario;
Novelli, Antonio;
Rapini, Novella;
Barbetti, Fabrizio;
Toscano, Alessandra;
Conforti, Andrea;
Bagolan, Pietro;
Capolupo, Irma;
Dotta, Andrea

Publication type:

Article

Aplasia cutis congenita with unique vascular malformation and cranial hypoplasia: a case in a preterm infant.

Published in:

Clinical & Experimental Pediatrics, 2025, v. 68, n. 5, p. 472, doi. 10.3345/cep.2024.01998

By:

Yasufumi Sakata;
Natsumi Fujii;
Sadahiro Nomura;
Yoshihiro Azuma;
Hiroki Hamano;
Hidenobu Kaneyasu;
Seigo Okada;
Kazumasa Takahashi;
Shunji Hasegawa

Publication type:

Article

Callosal Injuries in Cytomegalovirus Fetopathy: A Neurosonographic Study.

Published in:

Fetal Diagnosis & Therapy, 2025, v. 52, n. 3, p. 243, doi. 10.1159/000541794

By:

Krajden Haratz, Karina;
Malinger, Gustavo;
Miremberg, Hadas;
Hartoov, Joseph;
Wolman, Igal;
Jaffa, Ariel;
Busilov, Michael;
Birnbaum, Roee

Publication type:

Article

"Enriching the Hospital's Scientific Fame": Research at the Vienna Foundling Hospital.

Published in:

Neonatology (16617800), 2025, v. 122, n. 3, p. 281, doi. 10.1159/000543207

By:

Obladen, Michael

Publication type:

Article

European Reference Network for Inherited and Congenital Anomalies Evidence-Based Guideline on Surgical Aspects of Necrotizing Enterocolitis in Premature Neonates.

Published in:

Neonatology (16617800), 2025, v. 122, n. 3, p. 376, doi. 10.1159/000542540

By:

Hulscher, Jan;
Irvine, Willemijn;
Conforti, Andrea;
Di Cesare, Antonio;
Ichino, Martina;
Sfeir, Rony;
Madadi Sanjani, Omid;
Strohm, Joanna;
Hukkinen, Maria;
Moschino, Laura;
Norsa, Lorenzo;
Kokešová, Alena;
Bakx, Roel;
Kooi, Elisabeth;
Obermann-Borst, Sylvia;
Palleri, Elena;
Vermeulen, Marijn;
Spruce, Marie;
Rolle, Udo;
Miserez, Marc

Publication type:

Article

The clinical and socioeconomic aspects of t-cell receptor excision circle based newborn screening for severe combined immunodeficiency in Southeast and East Asia.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1549768

By:

Yoo, Noelle;
Kim, Seongjin;
Kim, Jane;
Ahn, Jong Gyun;
Kang, Insoo;
Shin, Junghee J.

Publication type:

Article

The power of mouse models in the diagnostic odyssey of patients with rare congenital anomalies.

Published in:

Mammalian Genome, 2025, v. 36, n. 2, p. 354, doi. 10.1007/s00335-025-10114-2

By:

Twigg, Stephen R. F.;
Greene, Nicholas D. E.;
Henderson, Deborah J.;
Mill, Pleasantine;
Liu, Karen J.

Publication type:

Article

Is Neonatal Viremia a Possible Predictor of the Timing of Maternal Infection in Asymptomatic Congenital Cytomegalovirus Infection? A Retrospective Study.

Published in:

Journal of Personalized Medicine, 2025, v. 15, n. 5, p. 165, doi. 10.3390/jpm15050165

By:

Natale, Fabio;
Boscarino, Giovanni;
Liuzzi, Giuseppina;
Bonci, Fabrizia;
Albanese, Giuseppe Maria;
Cellitti, Raffaella;
Giancotti, Antonella;
Franco, Francesco;
Caravale, Barbara;
Turchetta, Rosaria;
Turriziani, Ombretta;
Conti, Maria Giulia;
Terrin, Gianluca

Publication type:

Article

Postnatal outcomes of sonographically suspected isolated congenital lung anomalies.

Published in:

Pediatric Surgery International, 2025, v. 41, n. 1, p. 1, doi. 10.1007/s00383-025-06047-1

By:

Heinrich, Hanna;
Linskens, Ingeborg H.;
Gorter, Ramon R.;
Oomen, Matthijs W. N.;
van Leeuwen, Elisabeth;
Pajkrt, Eva

Publication type:

Article

Pediatric hepatobiliary scintigraphy: biliary atresia and beyond.

Published in:

Pediatric Radiology, 2025, v. 55, n. 6, p. 1054, doi. 10.1007/s00247-025-06212-7

By:

Aboughalia, Hassan;
Kobeisy, Aaminah;
Shalaby-Rana, Eglal;
Shet, Narendra S.

Publication type:

Article

PENTALOGY OF CANTRELL: A CASE REPORT.

Published in:

Health Problems of Civilization, 2025, v. 19, n. 2, p. 237, doi. 10.5114/hpc.2024.138897

By:

Płusajska, Justyna;
Świercz, Grzegorz;
Młodawski, Jakub;
Malmur, Mariusz;
Zalega, Magdalena

Publication type:

Article

Cornelia de Lange 综合征患者临床特征及其遗传学分析 2 例报告及文献复习.

Published in:

Journal of Jilin University (Medicine Edition), 2025, v. 51, n. 2, p. 501, doi. 10.13481/j.1671⁃587X.20250225

By:

蔡美娇;
陈佳燕;
马小敏;
黄燕茹;
张剑;
葛运生

Publication type:

Article

Congenital Cutaneous Hamartomas With Skeletal Muscle Differentiation Associated With LUMBAR Syndrome.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 492, doi. 10.1111/pde.15898

By:

Metry, Denise W.;
Siegel, Dawn H.;
Drolet, Beth A.;
Dias, Mark S.

Publication type:

Article

Expanding the Phenotypic Spectrum of SecVAUS: Report of Two Cases.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 683, doi. 10.1111/pde.15801

By:

Descos, Marion;
Kuentz, Paul;
Labrèze, Christine;
Bigorre, Michèle;
Vabres, Pierre;
Bessis, Didier

Publication type:

Article

Pregabalin Safety in Pregnancy: A Disproportionality Analysis of VigiBase Spontaneous Reporting System.

Published in:

Pharmaceuticals (14248247), 2025, v. 18, n. 5, p. 759, doi. 10.3390/ph18050759

By:

Mondada, Sarah;
Bedussi, Francesca;
Richardson, Jonathan L.;
Noseda, Roberta;
Ceschi, Alessandro

Publication type:

Article

Genetic Aspects of Tooth Agenesis.

Published in:

Genes, 2025, v. 16, n. 5, p. 582, doi. 10.3390/genes16050582

By:

Modafferi, Clarissa;
Tucci, Ilaria;
Bogliardi, Francesco Maria;
Gimondo, Elena;
Chiurazzi, Pietro;
Tabolacci, Elisabetta;
Grippaudo, Cristina

Publication type:

Article

Phenotypic Spectrum of KATNIP -Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Published in:

2025

By:

Tedesco, Maria Giovanna;
Donati, Ilaria;
Romeo, Chiara;
Dal Bo, Sara;
Nardini, Chiara;
Innoceta, Anna Maria;
Parmeggiani, Giulia;
Patanè, Anna;
Graziano, Claudio

Publication type:

Case Study

Foscarnet Versus Ganciclovir for Severe Congenital Cytomegalovirus Infection: Short- and Long-Term Follow-Up.

Published in:

Viruses (1999-4915), 2025, v. 17, n. 5, p. 720, doi. 10.3390/v17050720

By:

Nigro, Giovanni;
Buzzi, Marta;
Catenaro, Milena;
Coclite, Eleonora;
Muselli, Mario

Publication type:

Article

Emerging Prognostic and Predictive Biomarkers for Human Cytomegalovirus Infection During Pregnancy: Unmet Needs and Future Perspectives.

Published in:

Viruses (1999-4915), 2025, v. 17, n. 5, p. 705, doi. 10.3390/v17050705

By:

Rotundo, Salvatore;
Tassone, Maria Teresa;
Lionello, Rosaria;
Fusco, Paolo;
Serapide, Francesca;
Russo, Alessandro

Publication type:

Article

DNA sequencing of whole human cytomegalovirus genomes from formalin-fixed, paraffin-embedded tissues from congenital cytomegalovirus disease cases.

Published in:

PLoS ONE, 2025, v. 20, n. 5, p. 1, doi. 10.1371/journal.pone.0318897

By:

Li, Kathy K.;
Suárez, Nicolás M.;
Camiolo, Salvatore;
Davison, Andrew J.;
Orton, Richard J.

Publication type:

Article

The efficacy of velar adhesion in unilateral cleft lip and palate patients: Cleft width and otitis media with effusion.

Published in:

PLoS ONE, 2025, v. 20, n. 5, p. 1, doi. 10.1371/journal.pone.0323503

By:

Kashiwagi, Miki;
Saijo, Hideto;
Oshima, Sachi;
Ichikawa, Shota;
Narita, Rika;
Hoshi, Kazuto

Publication type:

Article

A Structural In Silico Analysis of Novel Epitopes from Toxoplasma gondii Proteins for the Serodiagnosis of Toxoplasmosis.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4689, doi. 10.3390/ijms26104689

By:

Betancourt, Angelis del Valle Benitez;
Silva, Tamires Lopes;
de Freitas Oliveira, Débora Karolla;
Nicolau-Junior, Nilson;
Garcia, João Luis;
Fujiwara, Ricardo Toshio;
Mineo, Tiago Wilson Patriarca;
Mineo, José Roberto

Publication type:

Article

Alteration of Hair Melanin in Patients With Mowat–Wilson Syndrome: The Role of the ZEB2 Gene in Regulating Melanogenesis Through SLC45A2.

Published in:

Pigment Cell & Melanoma Research, 2025, v. 38, n. 3, p. 1, doi. 10.1111/pcmr.70028

By:

Yamamoto, Mayuko;
Morisaka, Hiroyuki;
Shibata, Yuka;
Teraishi, Mika;
Ohko, Kentaro;
Takaishi, Mikiro;
Nakajima, Kimiko;
Wakamatsu, Kazumasa;
Ito, Shosuke;
Sano, Shigetoshi

Publication type:

Article