Works about HUMAN abnormalities

Results: 5000

Magnetic resonance cholangiopancreatography identification of pancreaticobiliary maljunction in the colombian pediatric population.

Published in:

Cirugía Pediátrica (English Edition), 2020, v. 33, n. 4, p. 177

By:

López Alza, L. C.;
Ramírez Villamil, A. G.;
Moreno Gómez, L. A.;
Aguilar Velasco, D.;
Fierro Ávila, F.

Publication type:

Article

Exome sequencing uncovers promising candidate genes for foetal structural malformations.

Published in:

Indian Journal of Medical Research, 2025, v. 161, n. 5, p. 1, doi. 10.25259/IJMR_1318_2024

By:

Sudhakar, Digumarthi V.S.;
Joseph, Shaini;
Bansal, Vandana;
Gangurde, Akshay;
Nitin Minde, Neha;
Gawde, Harshvardhan;
Pande, Shailesh Shankar

Publication type:

Article

Surgical Approach to a Challenging Penoscrotal Elephantiasis in a Young Male: A Case Report.

Published in:

Journal of Pioneering Medical Sciences, 2025, v. 14, n. 5, p. 50, doi. 10.47310/jpms2025140509

By:

Alhathal, Naif;
Alqarni, Rayan;
Almajed, Ebtesam;
Almalki, Abdulaziz;
Aboukhshaba, Ahmed;
Kattan, Said

Publication type:

Article

Farklı Kromozom 18 Genotipleri Olan Olguların Gelişimsel İzlemi.

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 86

By:

Seven, Efsun Korkmaz;
Vatansever, Zehra;
Solmaz, Merve Betül;
Civelek Ürey, Gülten Burcu;
Bozat, Gökçe Özyılmaz;
Akın, Ezgi Özalp;
Pekcici, Bahar Bingöler

Publication type:

Article

Enflamatuvar Barsak Hastalığından Kimyasal Kolite: Öykünün Önemi.

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 86

By:

Arslan, Kübra;
Özdemir, Serpil;
Teke, Selçuk;
Ergün, Ergun;
Demir, Arzu Meltem;
Kırsaçlıoğlu, Ceyda Tuna;
Yağmurlu, Aydın;
Fitöz, Ömer Suat;
Kuloğlu, Zarife;
Tanca, Aydan Kansu

Publication type:

Article

Maternal and gestational factors associated with congenital anomalies among live births: a nationwide population-based study in Brazil from 2012 to 2020.

Published in:

BMC Pregnancy & Childbirth, 2025, v. 24, n. 1, p. 1, doi. 10.1186/s12884-025-07675-0

By:

Fernandes, Qeren Hapuk Rodrigues Ferreira;
Paixão, Enny S.;
da Conceição Nascimento Costa, Maria;
Teixeira, Maria Glória;
Barreto, Mauricio Lima;
Acosta, Angelina Xavier

Publication type:

Article

Looking for a needle in a haystack: a case study of rare disease care in neonatology.

Published in:

Journal of Perinatal Medicine, 2025, v. 53, n. 6, p. 733, doi. 10.1515/jpm-2025-0090

By:

Czaplińska, Natalia;
Kociszewka-Najman, Bozena;
Kosiński, Przemyslaw;
Stanojević, Milan

Publication type:

Article

Microtia.

Published in:

Canadian Medical Association Journal (CMAJ), 2025, v. 197, n. 24, p. E691, doi. 10.1503/cmaj.250384

By:

You, Peng;
Liu, Yi-Chun;
Symonette, Caitlin

Publication type:

Article

Anticancer effects of biomimetic green-synthesized silver nanoparticles coated lactobacilli species against various cancer cell lines.

Published in:

3 Biotech, 2025, v. 15, n. 8, p. 1, doi. 10.1007/s13205-025-04393-4

By:

Pandiarajan, Shangavy;
Udayakumar, Saranya;
Janani, Gopalarethinam;
Mercy, Devadass Jessy;
Deepika, Balasubramanian;
Thirumalai, Anbazhagan;
Girigoswami, Agnishwar;
Jeyaraj, Pandiarajan;
Girigoswami, Koyeli

Publication type:

Article

Exploring the correlation between serum α-synuclein and abnormal electroencephalography patterns in children with epilepsy, as well as electroencephalographic discharge index.

Published in:

International Journal of Neuroscience, 2025, v. 135, n. 7, p. 779, doi. 10.1080/00207454.2024.2332958

By:

Zheng, Guoyuan;
Kong, Haibo

Publication type:

Article

Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.

Published in:

Science Translational Medicine, 2025, v. 17, n. 805, p. 1, doi. 10.1126/scitranslmed.adt2426

By:

Kato, Kohji;
Nishio, Yosuke;
McMillan, Kirsty J.;
Al-Maraghi, Aljazi;
Kroes, Hester Y.;
Abdel-Hamid, Mohamed S.;
Jones, Emma;
Shaw, Shrestha;
Yoshida, Aya;
Otsuji, Shiomi;
Murofushi, Yuka;
Aamer, Waleed;
Bhat, Ajaz A.;
AlRayahi, Jehan;
Al-Shabeeb Akil, Ammira S.;
Aliyev, Elbay;
van Binsbergen, Ellen;
Janssen, Etienne J.;
Mehrin, Kazi Mahnaz;
Oishi, Hisashi

Publication type:

Article

Cell-specific expression biases in human cortex of genes associated with neurodevelopmental disorders.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-05117-7

By:

Russ, Jeffrey B.;
Stone, Alexa C.;
Maney, Kayli;
Morris, Lauren C.;
Wright, Caroline F.;
Hurst, Jillian H.;
Cohen, Jennifer L.

Publication type:

Article

Colostomy complications in patients with anorectal malformations.

Published in:

Langenbeck's Archives of Surgery, 2025, v. 410, n. 1, p. 1, doi. 10.1007/s00423-025-03795-5

By:

Klein, Tobias;
Guarnizo-Diaz, Gloria Stephany;
Semaan, Alexander;
Boemers, Thomas M.;
Vahdad, Reza M.

Publication type:

Article

Isolated intestinal lymphatic anomaly: Underwater endoscopic identification and therapeutic intervention.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 2025, v. 81, n. 1, p. 146, doi. 10.1002/jpn3.70074

By:

Polachek, Ashley;
Daves, Geoffrey;
Pimpalwar, Sheena;
Gurram, Bhaskar;
Reddy, Suren;
Wysocki, Christian;
Troendle, David

Publication type:

Article

Complete embolization of large dural AV fistula having multiple feeders using glue embolizing agent (Squid 12).

Published in:

2025

By:

Khan, Shoeb;
Gandhi, Ashok;
Srivastav, Trilochan;
Fatima, Nadeem

Publication type:

Case Study

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

CONGENITAL CLASPED THUMB DEFORMITY IN CHILDREN: CASE REPORT.

Published in:

2025

By:

Megremis, Panos K.;
Megremis, Orestis P.

Publication type:

Case Study

Spontaneous Adverse Drug Reaction Reporting of Congenital Malformations: A Danish National Register Study.

Published in:

Pharmaceuticals (14248247), 2025, v. 18, n. 6, p. 917, doi. 10.3390/ph18060917

By:

Lausten-Thomsen, Ulrik;
Olsen, Rasmus Huan;
Christiansen, Michael;
Hedley, Paula L.;
Heerfordt, Ida Marie;
Andersen, Jon Trærup;
Gade, Christina

Publication type:

Article

MPDZ Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia.

Published in:

Genes, 2025, v. 16, n. 6, p. 707, doi. 10.3390/genes16060707

By:

Cabet, Sara;
Ghersi-Egea, Jean-François;
Khung-Savatovsky, Suonavy;
Guimiot, Fabien;
Putoux, Audrey;
Sabatier, Isabelle;
Fernandez, Carla;
Raymond, Laure;
Mortreux, Jérémie;
Laurichesse Delmas, Hélène;
Cuillier, Fabrice Eric;
Ho, Fabien;
Lesca, Gaetan;
Alessandri, Jean-Luc;
Guibaud, Laurent

Publication type:

Article

Comparative Analysis of Two Zika Virus Isolates in a Rhesus Macaque Pregnancy Model.

Published in:

Viruses (1999-4915), 2025, v. 17, n. 6, p. 762, doi. 10.3390/v17060762

By:

Jaeger, Hannah K.;
Smith, Jessica L.;
Parkins, Christopher J.;
Haese, Nicole N.;
Kreklywich, Craig N.;
Denton, Michael;
Labriola, Caralyn S.;
Axthelm, Michael K.;
Barber-Axthelm, Aaron;
Chun, Kim;
Swanson, Tonya;
D'Mello, Rahul J.;
Morgan, Terry K.;
Smith, Duncan R.;
Lo, Jamie O.;
Hirsch, Alec J.;
Roberts, Victoria H. J.;
Streblow, Daniel N.

Publication type:

Article

Oropouche Virus (OROV) and Breastfeeding Safety: Analysis of Related Orthobunyaviruses for Mother-Infant Vertical Transmission in Breast Milk.

Published in:

Viruses (1999-4915), 2025, v. 17, n. 6, p. 738, doi. 10.3390/v17060738

By:

Schwartz, David A.;
Vicente, Creuza Rachel;
Ververs, Mija

Publication type:

Article

Off We Go Like a Herd of Turtles.

Published in:

WSQ: Women's Studies Quarterly, 2015, v. 43, n. 1/2, p. 130, doi. 10.1353/wsq.2015.0025

By:

Murphy, AprilJo

Publication type:

Article

Skeleton Changes Induced by Horse Riding on Medieval Skeletal Remains from Croatia.

Published in:

International Journal of the History of Sport, 2015, v. 32, n. 5, p. 708, doi. 10.1080/09523367.2015.1038251

By:

Anđelinović, Š.;
Anterić, I.;
Škorić, E.;
Bašić, Ž.

Publication type:

Article

Exposure to duloxetine during pregnancy and risk of congenital malformations and stillbirth: A nationwide cohort study in Denmark and Sweden.

Published in:

2021

By:

Ankarfeldt, Mikkel Zöllner;
Petersen, Janne;
Andersen, Jon Trærup;
Li, Hu;
Motsko, Stephen Paul;
Fast, Thomas;
Hede, Simone Møller;
Jimenez-Solem, Espen

Publication type:

journal 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

A case of antenatally undiagnosed laryngeal atresia with tracheo‐esophageal fistula with airway obstruction at birth and its management.

Published in:

Pediatric Anesthesia, 2024, v. 34, n. 2, p. 175, doi. 10.1111/pan.14794

By:

Soni, Lipika;
Prasad, Ganga;
Kaur, Manpreet

Publication type:

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

Effect of the prone position and head‐down tilt on intra‐abdominal pressure and on cerebral and splanchnic oxygenation in infants undergoing posterior sagittal anorectoplasty for anorectal malformations.

Published in:

Pediatric Anesthesia, 2021, v. 31, n. 5, p. 611, doi. 10.1111/pan.14160

By:

Franzini, Stefania;
Morandi, Anna;
Consonni, Dario;
Calderini, Edoardo;
Leva, Ernesto;
Vutskits, Laszlo

Publication type:

Article

Peters anomaly: A 5‐year experience.

Published in:

Pediatric Anesthesia, 2020, v. 30, n. 5, p. 577, doi. 10.1111/pan.13843

By:

Salik, Irim;
Gupta, Abhishek;
Tara, Arjun;
Zaidman, Gerald;
Barst, Samuel;
Veyckemans, Francis

Publication type:

Article

Airway management for neonates requiring ex utero intrapartum treatment (EXIT).

Published in:

Pediatric Anesthesia, 2020, v. 30, n. 3, p. 248, doi. 10.1111/pan.13818

By:

Mohammad, Shazia;
Olutoye, Olutoyin A.;
Engelhardt, Thomas

Publication type:

Article

Ultrasound‐guided dorsal penile nerve block vs neurostimulator‐guided pudendal nerve block in children undergoing hypospadias surgery: A prospective, randomized, double‐blinded trial.

Published in:

Pediatric Anesthesia, 2019, v. 29, n. 10, p. 1046, doi. 10.1111/pan.13727

By:

Aksu, Can;
Akay, Mustafa Alper;
Şen, Mehmet Celal;
Gürkan, Yavuz;
Bosenberg, Adrian

Publication type:

Article

Airway management of congenital pulmonary airway malformation resection in neonates and infants: A case cohort study.

Published in:

Pediatric Anesthesia, 2019, v. 29, n. 8, p. 808, doi. 10.1111/pan.13648

By:

Narayanasamy, Suryakumar;
Adler, Elena;
Mahmoud, Mohamed;
Burkley, Meghan;
Lim, Foong‐Yen;
Subramanyam, Rajeev;
Ungern‐Sternberg, Britta

Publication type:

Article

The utility of the pretracheal stethoscope in detecting ventilatory abnormalities during propofol sedation in children.

Published in:

Pediatric Anesthesia, 2019, v. 29, n. 6, p. 604, doi. 10.1111/pan.13616

By:

Boriosi, Juan P.;
Zhao, Qianqian;
Preston, Ashley;
Hollman, Gregory A.;
Veyckemans, Francis

Publication type:

Article

Clinical and echocardiographic risk factors for extubation failure in infants with congenital diaphragmatic hernia.

Published in:

Pediatric Anesthesia, 2018, v. 28, n. 10, p. 864, doi. 10.1111/pan.13470

By:

Schroeder, Lukas;
Reutter, Heiko;
Gembruch, Ullrich;
Berg, Christoph;
Mueller, Andreas;
Kipfmueller, Florian

Publication type:

Article

Clinical implications of de Barsy syndrome.

Published in:

Pediatric Anesthesia, 2018, v. 28, n. 1, p. 59, doi. 10.1111/pan.13283

By:

Warner, Lindsay L.;
Olsen, David A.;
Smith, Hugh M.

Publication type:

Article

Anesthetic considerations for patients with Bardet-Biedl syndrome: a case series and review of the literature.

Published in:

Pediatric Anesthesia, 2016, v. 26, n. 4, p. 429, doi. 10.1111/pan.12848

By:

Smith, Bradford B.;
Barbara, David W.;
Hyder, Joseph A.;
Smith, Mark M.;
Veyckemans, Francis

Publication type:

Article

Laryngeal cleft repair: the anesthetic perspective Laryngeal cleft repair: the anesthetic perspective:.

Published in:

Pediatric Anesthesia, 2013, v. 23, n. 4, p. 334, doi. 10.1111/pan.12119

By:

Ferrari, Lynne R.;
Zurakowski, David;
Solari, Jessica;
Rahbar, Reza;
Cote, Charles

Publication type:

Article

Regulatory Variation at Glypican-3 Underlies a Major Growth QTL in Mice.

Published in:

PLoS Biology, 2005, v. 3, n. 4, p. 1, doi. 10.1371/journal.pbio.0030135

By:

Oliver, Fiona;
Christians, Julian K;
Liu, Xiaojun;
Rhind, Susan;
Verma, Vinesh;
Davison, Claire;
Brown, Steve D. M;
Denny, Paul;
Keightley, Peter D

Publication type:

Article

The you Gene Encodes an EGF-CUB Protein Essential for Hedgehog Signaling in Zebrafish.

Published in:

PLoS Biology, 2005, v. 3, n. 1, p. 1, doi. 10.1371/journal.pbio.0030066

By:

Woods, Ian G;
Talbot, William S

Publication type:

Article

Displasia de la cadera.

Published in:

Acta Pediatrica de Mexico, 2015, v. 36, n. 3, p. 205, doi. 10.18233/APM36No3pp205-207

By:

Isunza-Ramírez, Agustín;
Isunza-Alonso, Oscar Daniel

Publication type:

Article

Agenesia pulmonar: reporte de dos casos.

Published in:

2014

By:

Solano-Vázquez, Denis Yaraví;
Gutiérrez-Morales, Gabriel;
Cuevas-Schacht, Francisco;
Pérez-Fernández, Lorenzo Felipe

Publication type:

Case Study

Siameses onfalópagos: presentación de un caso.

Published in:

2014

By:

Gómez-Murillo, Sheila Yadira;
Solórzano-Morales, Sara Alejandra;
Macías-Avilés, Héctor

Publication type:

Case Study

Asociación de malformación anorrectal con duplicaciones anales y rectales.

Published in:

2014

By:

Santos-Jasso, Karla A.;
Ruíz-Montañez, Alejandro;
Vidales-Nieto, Esperanza;
de la Torre-Mondragón, Luis

Publication type:

Case Study

Ano imperforado. Enfoque clínico-epidemiológico.

Published in:

Acta Pediatrica de Mexico, 2013, v. 34, n. 2, p. 55

By:

Baeza-Herrera, Carlos;
Rodríguez-Calderón, Roberto Lucas;
Villalobos-Castillejos, Alín;
Martínez-Leo, Bruno Adrián;
Portugal-Moreno, Víctor Hugo

Publication type:

Article

Carta al editor.

Published in:

Acta Pediatrica de Mexico, 2011, v. 32, n. 5, p. 314

By:

de Rubens Figueroa, Jesús

Publication type:

Article

Gastrosquisis. Su tratamiento en un estudio comparativo.

Published in:

Acta Pediatrica de Mexico, 2011, v. 32, n. 5, p. 266

By:

Baeza-Herrera, Carlos;
Cortés-García, Ricardo;
del Carmen Cano-Salas, María;
García-Cabello, Luis Manuel;
Martínez-Leo, Bruno

Publication type:

Article

Malformaciones congénitas diagnosticadas en un hospital general. Revisión de cuatro años.

Published in:

Acta Pediatrica de Mexico, 2011, v. 32, n. 2, p. 101

By:

Flores-Nava, Gerardo;
Pérez-Aguilera, Thelma Valentina;
Pérez-Bernabé, Martha María

Publication type:

Article

Quiste de duplicación esofágica. Informe de un caso y revisión de la literatura.

Published in:

Acta Pediatrica de Mexico, 2010, v. 31, n. 3, p. 108

By:

Del Razo, Rosangela;
Gómez, Airé;
Salcedo, Margarita;
Velásquez, Roberto

Publication type:

Article

Malformación congénita de la vía aérea pulmonar. Informe de un caso y revisión de la literatura.

Published in:

Acta Pediatrica de Mexico, 2010, v. 31, n. 2, p. 70

By:

Palmer-Becerra, José David;
Montalvo-Marín, Arturo;
Uro-Huerta, Hugo;
Gutiérrez-Lucatero, Silvia;
Madriñan-Rivas, Jorge Eduardo

Publication type:

Article

Valvas ureterales congénitas. Informe de dos casos.

Published in:

Acta Pediatrica de Mexico, 2009, v. 30, n. 3, p. 133

By:

Alvarado-García, Rafael;
Garcia-Sánchez, Daniel;
Garrido-Rodríguez, Jose

Publication type:

Article