Results 111 to 120 of about 14,608 (291)

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Protein associated with SMAD1 (PAWS1/FAM83G) is a substrate for type I bone morphogenetic protein receptors and modulates bone morphogenetic protein signalling [PDF]

, 2014
Bone morphogenetic proteins (BMPs) control multiple cellular processes in embryos and adult tissues. BMPs signal through the activation of type I BMP receptor kinases, which then phosphorylate SMADs 1/5/8.
Campbell, David, Dingwell, Kevin S., Gourlay, Robert, Herhaus, Lina, Macartney, Thomas, Sapkota, Gopal P., Smith, James C., Vogt, Janis   +7 more
core   +3 more sources

Retrospective Review of Perioperative Neonatal Echocardiography for Non‐Cardiac Surgery at a Quaternary Level Academic Hospital in Johannesburg, South Africa

Pediatric Anesthesia, EarlyView.
Bronwyn Faith Krause, Firoza Motara, Zainub Jooma   +2 more
wiley   +1 more source

Congenital omphalocele with ectopic liver and hepatic cyst and unilateral kidney: A rare combination

Saudi Journal for Health Sciences
Omphalocele is a rare congenital abdominal wall defect in which internal organs protrude through an abdominal wall defect covered by the peritoneum.
Anurag Gupta, Kanika Singh, Rajguru Meena, Asmita M. Rathore   +3 more
doaj   +1 more source

Predictive factors at birth of the severity of gastroschisis. [PDF]

, 2015
To establish children born with gastroschisis (GS). We performed a retrospective study covering the period from January 2000 to December 2007. The following variables were analyzed for each child: Weight, sex, apgar, perforations, atresia, volvulus ...
Ballabeni, P., Bouchard, S., Damphousse, A., de Buys Roessingh, A.S., Dubois, J.   +4 more
core   +1 more source

Early Outcome of Patient Born with Gastroschisis and Omphalocele

مجلة كلية الطب, 2022
Background: Gastroschisis and omphalocele are the most common congenital defects of the anterior abdominal wall which need urgent and prompt intervention post-operative time outcomes of gastroschisis and omphalocele differ between different countries ...
Salar Berdawd, Abdulrahman O. Taha
doaj  

Surgery cannot change the outcomes of all infants with omphalocele

, 2023
Guangguo Men, Lili Wang, Xudan Lu
openalex   +1 more source

Congenital fistulisation of Meckel’s diverticulum in omphalocele sac: case report

The Pan African Medical Journal, 2019
Fistulisation of Meckel's diverticulum in the top of an omphalocele sac is very rare. To our Knowledge, three cases were reported in the literature. We presente in this report a new case of this uncommon presentation.
M. Charki, Hicham Abdellaoui, S. Andaloussi, Mohammed-Amine Oukhouya, A. Mahmoudi, A. El madi, K. Khattala, Y. Bouabdallah   +7 more
semanticscholar   +1 more source

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +1 more source

Apert syndrome: the Paris and Rotterdam philosophy [PDF]

, 2017
Introduction: Apert syndrome is a rare type of syndromic craniosynostosis. Patients have an explicit phenotype with craniofacial dysmorphologies and severe symmetrical syndactyly of the hands and feet.
Arnaud, E. (Eric), Bredero-Boelhouwer, H.H. (Hansje), Driessen, C. (Caroline), Joosten, K.F.M. (Koen), Mathijssen, I.M.J. (Irene), Nieuwenhoven, C.A. (Christianne) van, Veelen-Vincent, M.L.C. (Marie-Lise) van, Versnel, S.L. (Sarah), Wolvius, E.B. (Eppo)   +8 more
core   +2 more sources