Works about CONGENITAL disorders

Results: 5000

A Rare Syndromic Report of a Young Patient with Type 2 Diabetes Mellitus: Alstrom Syndrome.

Published in:

Case Reports in Clinical Practice, 2024, v. 9, n. 6, p. 253, doi. 10.18502/crcp.v9i6.18944

By:

Suran, Apoorva;
Khare, Jaideep

Publication type:

Article

Premarital Counseling in Relation to Common STDs, Andrological and Dermatological Disorders in Menoufia Governorate.

Published in:

Egyptian Journal of Hospital Medicine, 2025, v. 99, n. 1, p. 2448, doi. 10.21608/ejhm.2025.435025

By:

Elwahed Gaber, Mohamed Abd;
Latif Ibrahem, Reda Abdel;
Saadallah, Shymaa Ali

Publication type:

Article

Fetal malformations of cortical development: review and clinical guidance.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 6, p. 1888, doi. 10.1093/brain/awaf094

By:

Russ, Jeffrey B;
Agarwal, Sonika;
Venkatesan, Charu;
Scelsa, Barbara;
Vollmer, Brigitte;
Tarui, Tomo;
Pardo, Andrea C;
Lemmon, Monica E;
Mulkey, Sarah B;
Hart, Anthony R;
Nagaraj, Usha D;
Kuller, Jeffrey A;
Whitehead, Matthew T;
Cohen, Jennifer L;
Gebb, Juliana S;
Glenn, Orit A;
Norton, Mary E;
Gano, Dawn

Publication type:

Article

The Orthopedic Strategy for Patients with Larsen Syndrome.

Published in:

Surgical Techniques Development, 2025, v. 14, n. 2, p. 10, doi. 10.3390/std14020010

By:

Kaissi, Ali Al;
Gubin, Alexander;
Ryabykh, Sergey;
Dougales, Vasileios;
Al Kaissi, Hamza;
Kircher, Susanne Gerit;
Grill, Franz

Publication type:

Article

Non‐Syndromic Congenital Sodium Diarrhoea With a SLC9A3 Gene Variant: A Case Report.

Published in:

Journal of Paediatrics & Child Health, 2025, v. 61, n. 7, p. 1138, doi. 10.1111/jpc.70067

By:

Yilmaz Dagli, Hatice;
Özkan Zarif, Nurten;
Çelik, Kıymet;
Arayici, Sema;
Ongun, Hakan;
Artan, Reha;
Mendilcioğlu, İbrahim İnanç

Publication type:

Article

Insights to micropsoridia Nosema bombycis congenital infection and host immune responses in the embryo and larva stages of silkworms.

Published in:

BMC Genomics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s12864-025-11762-z

By:

Li, Tangxin;
Song, Yue;
Sun, Quan;
Yang, Qiong;
Tang, Yunlin;
Shen, Zigang;
He, Zhangshuai;
Dou, Yabin;
Zhang, Junzheng;
Li, Sheng;
Li, Tian;
Meng, Xianzhi;
Zhou, Zeyang;
Chen, Jie;
Pan, Guoqing

Publication type:

Article

γδ T Cells and Inborn Errors of Immunity.

Published in:

European Journal of Immunology, 2025, v. 55, n. 6, p. 1, doi. 10.1002/eji.202451457

By:

Sagar;
Ehl, Stephan

Publication type:

Article

Ex Vivo Osteoclastogenesis from Peripheral Blood Mononuclear Cells Is Unchanged in Adults with Phenylketonuria, Regardless of Dietary Compliance.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 12, p. 5776, doi. 10.3390/ijms26125776

By:

Hanusch, Beatrice;
Schlegtendal, Anne;
Lücke, Thomas;
Sinningen, Kathrin

Publication type:

Article

In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1.

Published in:

Molecules, 2025, v. 30, n. 12, p. 2599, doi. 10.3390/molecules30122599

By:

Hay Mele, Bruno;
Bovenzi, Jessica;
Andreotti, Giuseppina;
Cubellis, Maria Vittoria;
Monticelli, Maria

Publication type:

Article

Evaluating hormonal differences in post-orchidopexy patients: a meta-analysis of palpable vs. nonpalpable undescended testis.

Published in:

Archives of Italian Urology & Andrology / Archivio Italiano di Urologia Andrologia, 2025, v. 97, n. 2, p. 1, doi. 10.4081/aiua.2025.13903

By:

Pantjoro, Marshal Harvy Wicaksono;
Adnyana, Anak Agung Ngurah Krisnanta;
Duarsa, Gede Wirya Kusuma

Publication type:

Article

Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies.

Published in:

2020

By:

Glinianaia, Svetlana V.;
Morris, Joan K.;
Best, Kate E.;
Santoro, Michele;
Coi, Alessio;
Armaroli, Annarita;
Rankin, Judith

Publication type:

journal article

Congenital anomalies of the large intrathoracic airways.

Published in:

Pediatric Anesthesia, 2022, v. 32, n. 2, p. 126, doi. 10.1111/pan.14339

By:

Johansen, Mathias;
Veyckemans, Francis;
Engelhardt, Thomas;
Ungern‐Sternberg, Britta S. Von

Publication type:

Article

Associations of perioperative characteristics with motor function in preschool children born with esophageal atresia.

Published in:

Pediatric Anesthesia, 2021, v. 31, n. 8, p. 854, doi. 10.1111/pan.14204

By:

Hoorn, Camille E.;
Cammen‐van Zijp, Monique H. M.;
Stolker, Robert Jan;
Rosmalen, Joost;
Wijnen, Rene M. H.;
Graaff, Jurgen C.;
Vutskits, Laszlo

Publication type:

Article

Sjögren‐Larsson syndrome: Anesthetic considerations and practical recommendations.

Published in:

Pediatric Anesthesia, 2020, v. 30, n. 12, p. 1390, doi. 10.1111/pan.14034

By:

Franzen, Marcellene H.;
LeRiger, Michelle M.;
Pellegrino, Kaitlyn P.;
Kugler, Jane A.;
Rizzo, William B.;
Veyckemans, Francis

Publication type:

Article

Perioperative management of children with urea cycle disorders.

Published in:

Pediatric Anesthesia, 2020, v. 30, n. 7, p. 780, doi. 10.1111/pan.13905

By:

Del Río, Cristina;
Martín‐Hernández, Elena;
Ruiz, Alicia;
Quijada‐Fraile, Pilar;
Rubio, Paloma

Publication type:

Article

Pediatric syndromes with noncraniofacial anomalies impacting the airways.

Published in:

Pediatric Anesthesia, 2020, v. 30, n. 3, p. 304, doi. 10.1111/pan.13810

By:

Oliveira, Carlos Rogério Degrandi

Publication type:

Article

Intraoperative acidosis and hypercapnia during thoracoscopic repair of congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula.

Published in:

Pediatric Anesthesia, 2017, v. 27, n. 8, p. 841, doi. 10.1111/pan.13178

By:

Zani, Augusto;
Lamas ‐ Pinheiro, Ruben;
Paraboschi, Irene;
King, Sebastian K.;
Wolinska, Justyna;
Zani ‐ Ruttenstock, Elke;
Eaton, Simon;
Pierro, Agostino

Publication type:

Article

Risk factors for perioperative mortality and transfusion in sacrococcygeal teratoma resections.

Published in:

Pediatric Anesthesia, 2017, v. 27, n. 7, p. 726, doi. 10.1111/pan.13143

By:

Isserman, Rebecca S.;
Nelson, Olivia;
Tran, Kha M.;
Cai, Lingyu;
Polansky, Marcia;
Rosenbloom, Julia M.;
Goebel, Theodora K.;
Lin, Elaina E.;
Veyckemans, Francis

Publication type:

Article

Mortality following congenital diaphragmatic hernia repair: the role of anesthesia.

Published in:

Pediatric Anesthesia, 2016, v. 26, n. 12, p. 1197, doi. 10.1111/pan.13008

By:

Goonasekera, Chulananda;
Ali, Kamal;
Hickey, Ann;
Sasidharan, Lekshmi;
Mathew, Malcolm;
Davenport, Mark;
Greenough, Anne;
Veyckemans, Francis

Publication type:

Article

Helping trainees to become good pediatric anesthetists.

Published in:

Pediatric Anesthesia, 2013, v. 23, n. 8, p. 751, doi. 10.1111/pan.12188

By:

Brown, T.C.K.;
Morton, Neil

Publication type:

Article

Eventración diafragmática bilateral: informe de un caso y revisión de la literatura.

Published in:

Acta Pediatrica de Mexico, 2013, v. 34, n. 3, p. 161

By:

Gómez-Ruiz, Alejandro;
Medina-Vega, Francisco Antonio;
Tejeda-Tapia, Hector David

Publication type:

Article

El diagnóstico del pediatra ante la patología bucal benigna del recién nacido.

Published in:

Acta Pediatrica de Mexico, 2013, v. 34, n. 4, p. 196

By:

de los Ángeles Angulo-Espinoza, María;
de la Teja-Ángeles, Eduardo;
Duran-Gutiérrez, Américo

Publication type:

Article

Estenosis esofágica congénita: informe de un caso.

Published in:

Acta Pediatrica de Mexico, 2013, v. 34, n. 4, p. 230

By:

Goldbard-Rochman, Daniela;
Montijo-Barrios, Erika;
Cázares-Méndez, J. Monserrat;
González, Luz María

Publication type:

Article

Síndrome de bolsa colónica (colon pouch) en el espectro de las malformaciones anorrectales.

Published in:

Acta Pediatrica de Mexico, 2013, v. 34, n. 3, p. 132

By:

de la Torre-Mondragón, Luis;
Santos-Jasso, Karla Alejandra;
Palestina-Carro, Oscar;
Ruíz-Montañez, Alejandro

Publication type:

Article

Hernia diafragmática congénita de presentación tardía. Estudio de cinco casos y revisión de la literatura.

Published in:

Acta Pediatrica de Mexico, 2013, v. 34, n. 2, p. 65

By:

Sancho-Hernández, Rogelio;
Pérez-Fernández, Lorenzo Felipe;
Vargas-Gómez, Miguel Alfredo

Publication type:

Article

Hirschsprung disease. Evaluation of calretinin and S-100 as ancillary methods for the diagnosis of aganglionosis in rectal biopsies.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 5, p. 246

By:

De la Torre, Luis;
Santos, Karla

Publication type:

Article

Tratamiento estomatológico de un niño con síndrome de Toriello-Carey.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 5, p. 232

By:

Ceballos-Hernández, Hilda;
Tovar-Malvaez, Diana Patricia;
Flores-Hernández, Jessica Berenice;
de la Teja-Ángeles, Eduardo

Publication type:

Article

Primer caso de conducto arterioso persistente cerrado transcatéter en Zacatecas.

Published in:

Acta Pediatrica de Mexico, 2012, v. 33, n. 4, p. 215

By:

Valdovinos-Oregón, Danely

Publication type:

Article

Síndrome de Poland.

Published in:

Revista Mexicana de Pediatria, 2024, v. 91, n. 4, p. 154, doi. 10.35366/119694

By:

Torres-Batista, Luis Enrique;
Torres-Batista, Fidel Enrique;
Torres-Castañeda, Idelvis;
Nsa-Assoumou, Bérénice Elesina

Publication type:

Article

Embriopatía congénita en los niños de madres diabéticas.

Published in:

Revista Mexicana de Pediatria, 2014, v. 81, n. 2, p. 79

By:

Aviña Fierro, Jorge Arturo;
Hernández Aviña, Daniel Alejandro

Publication type:

Article

Dos casos con el Síndrome de Seckel en una familia colombiana.

Published in:

Revista Mexicana de Pediatria, 2014, v. 81, n. 2, p. 69

By:

Baquero Álvarez, Juan Felipe;
Tobón Restrepo, Juan Camilo;
Alzate Gómez, Diego Fernando

Publication type:

Article

Acalasia congénita; a propósito de un caso.

Published in:

Revista Mexicana de Pediatria, 2013, v. 80, n. 4, p. 146

By:

Jiménez Jiménez, José Ramón;
Islas Domínguez, Luis Paulino;
Castellanos Reyes, Karol

Publication type:

Article

Adverse outcomes of pregnancy in women with non-alcoholic fatty liver disease.

Published in:

Liver International, 2016, v. 36, n. 2, p. 268, doi. 10.1111/liv.12902

By:

Hagström, Hannes;
Höijer, Jonas;
Ludvigsson, Jonas F.;
Bottai, Matteo;
Ekbom, Anders;
Hultcrantz, Rolf;
Stephansson, Olof;
Stokkeland, Knut

Publication type:

Article

High‐resolution capillary zone electrophoresis and mass spectrometry for distinction of undersialylated and hypoglycosylated transferrin glycoforms in body fluids.

Published in:

Journal of Separation Science, 2020, v. 43, n. 1, p. 241, doi. 10.1002/jssc.201900857

By:

Caslavska, Jitka;
Schild, Christof;
Thormann, Wolfgang

Publication type:

Article

High‐resolution capillary zone electrophoresis for transferrin glycoform analysis associated with congenital disorders of glycosylation.

Published in:

Journal of Separation Science, 2018, v. 41, n. 13, p. 2808, doi. 10.1002/jssc.201800082

By:

Tobler, Micha;
Caslavska, Jitka;
Burda, Patricie;
Thormann, Wolfgang

Publication type:

Article

Pitfalls in diagnosis: skeletal holes, clefts, and notches.

Published in:

2015

By:

Yu, Sarah;
Yu, Joseph;
Yu, Sarah M;
Yu, Joseph S

Publication type:

journal article

Azathioprine during pregnancy in systemic lupus erythematosus patients is not associated with poor fetal outcome.

Published in:

Clinical Rheumatology, 2015, v. 34, n. 7, p. 1211, doi. 10.1007/s10067-015-2987-x

By:

Saavedra, Miguel;
Sánchez, Antonio;
Morales, Sara;
Ángeles, Ulises;
Jara, Luis

Publication type:

Article

Acetylcholinesterase staining for the pathological diagnosis of Hirschsprung's disease.

Published in:

Surgery Today, 2021, v. 51, n. 2, p. 181, doi. 10.1007/s00595-020-02055-x

By:

Yoshimaru, Koichiro;
Yanagi, Yusuke;
Obata, Satoshi;
Takahashi, Yoshiaki;
Irie, Keiko;
Omori, Atsuko;
Matsuura, Toshiharu;
Taguchi, Tomoaki

Publication type:

Article

Individualized treatment of pediatric inguinal hernia reduces adolescent recurrence rate: an analysis of 3006 cases.

Published in:

Surgery Today, 2020, v. 50, n. 5, p. 499, doi. 10.1007/s00595-019-01940-4

By:

Chu, Cheng Bing;
Chen, Jie;
Shen, Ying Mo;
Liu, Su Jun;
Sun, Li;
Nie, Yu Sheng;
Liu, Jing;
Cao, Jin Xin;
Du, Hua Dong;
Zou, Zhen Yu;
Yuan, Xin

Publication type:

Article

Hepatic resection for hepatocellular carcinoma in a patient with situs ambiguous with polysplenia: report of a case.

Published in:

Surgery Today, 2015, v. 45, n. 6, p. 765, doi. 10.1007/s00595-014-0997-y

By:

Matsuda, Masanori;
Amemiya, Hidetake;
Hosomura, Naohiro;
Ogiku, Masahito;
Fujii, Hideki

Publication type:

Article

Present state of intestinal transplantation in Japan.

Published in:

Pediatric Surgery International, 2023, v. 39, n. 1, p. 1, doi. 10.1007/s00383-023-05552-5

By:

Ueno, Takehisa;
Wada, Motoshi;
Ogawa, Eri;
Matsuura, Toshiharu;
Yamada, Yohei;
Sakamoto, Seisuke;
Okuyama, Hiroomi

Publication type:

Article

Diagnosis and treatment of benign adipocytic tumors in children.

Published in:

Pediatric Surgery International, 2022, v. 38, n. 12, p. 2045, doi. 10.1007/s00383-022-05248-2

By:

Pérez Daza, Laura Daniela;
González Villarreal, Laura Camila;
Sánchez Rodríguez, Laura Camila;
Molina Ramírez, Iván Darío;
Quintero Canasto, Edna Margarita

Publication type:

Article

Musculoskeletal deformities in children with congenital thoracic malformations: a population-based cohort study.

Published in:

Pediatric Surgery International, 2022, v. 38, n. 5, p. 731, doi. 10.1007/s00383-022-05101-6

By:

Markel, Moritz;
Derraugh, Gabrielle;
Lacher, Martin;
Iqbal, Shaikh;
Balshaw, Robert;
Lum Min, Suyin A.;
Keijzer, Richard

Publication type:

Article

Editorial.

Published in:

2022

By:

Pierro, Agostino;
Wester, Tomas

Publication type:

Editorial

Radiation burden in patients with esophageal atresia: a systematic review.

Published in:

2021

By:

Comella, Assia;
Tan Tanny, Sharman P.;
Hutson, John M.;
Omari, Taher I.;
Teague, Warwick J.;
Nataraja, Ramesh M.;
King, Sebastian K.

Publication type:

journal article

In vitro models of fetal lung development to enhance research into congenital lung diseases.

Published in:

2021

By:

Shibuya, Soichi;
Allen-Hyttinen, Jessica;
De Coppi, Paolo;
Michielin, Federica

Publication type:

journal article

Diagnostic and management strategies for congenital H-type tracheoesophageal fistula: a systematic review.

Published in:

Pediatric Surgery International, 2021, v. 37, n. 5, p. 539, doi. 10.1007/s00383-020-04853-3

By:

Sampat, Keerthika;
Losty, Paul D.

Publication type:

Article

Increased hand digit length ratio (2D:4D) is associated with increased severity of hypospadias in pre-pubertal boys.

Published in:

2020

By:

O'Kelly, Fardod;
DeCotiis, Keara;
Zu'bi, Fadi;
Farhat, Walid A.;
Koyle, Martin A.

Publication type:

journal article

Neonatal surgery in low- vs. high-volume institutions: a KID inpatient database outcomes and cost study after repair of congenital diaphragmatic hernia, esophageal atresia, and gastroschisis.

Published in:

Pediatric Surgery International, 2019, v. 35, n. 11, p. 1293, doi. 10.1007/s00383-019-04525-x

By:

Sømme, Stig;
Shahi, Niti;
McLeod, Lisa;
Torok, Michelle;
McManus, Beth;
Ziegler, Moritz M.

Publication type:

Article

Epidemiology and mortality of pediatric surgical conditions: insights from a tertiary center in Uganda.

Published in:

2019

By:

Cheung, Maija;
Kakembo, Nasser;
Rizgar, Nensi;
Grabski, David;
Ullrich, Sarah;
Muzira, Arlene;
Kisa, Phyllis;
Sekabira, John;
Ozgediz, Doruk

Publication type:

journal article