Results 21 to 30 of about 698 (166)

Congenital deformity of the distal extremities in three dogs [PDF]

, 2016
Congenital limb deformities are very rare conditions and the knowledge about etiology, pathogenesis, clinical presentation and treatment is still poor. Moreover, many defects are still not reported in veterinary literature. This report documents clinical
Della Valle, G., Di Dona, F., Fatone G., Lamagna F., Meomartino, L.   +4 more
core   +4 more sources

Characterization of Pax3 and Sox10 Transgenic Xenopus Laevis Embryos as Tools to Study Neural Crest Development [PDF]

, 2018
The neural crest is a multipotent population of cells that originates a variety of cell types. Many animal models are used to study neural crest induction, migration and differentiation, with amphibians and birds being the most widely used systems.
Alkobtawi, Mansour, Barriga, Elias H., Kerney, Ryan R., Mayor, Roberto, Monsoro-Burq, Anne-Helene, Moreno, Mauricio, Ray, Heather, Saint-Jeannet, Jean-Pierre   +7 more
core   +2 more sources

Congenital malformations [PDF]

, 2012
Congenital malformations are single or multiple defects of the morphogenesis of organs or body districts identifiable at birth or during the intrauterine life. Their global birth prevalence is about 2–3%.
CORSELLO, Giovanni, GIUFFRE, Mario
core   +1 more source

Dysplasies osseuses héréditaires et voies de signalisation associées aux récepteurs FGFR3 et PTHR1 [PDF]

, 2005
La croissance des os longs se fait selon un processus complexe impliquant la migration et la condensation de cellules mésenchymateuses en cellules chondrogéniques qui se différencient en chondrocytes produisant la matrice cartilagineuse pour former la ...
Bonaventure, Jacky, Silve, Caroline
core   +1 more source

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations [PDF]

, 2013
Background: Mutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM #610536). Recently, gross deletions and mutations in EFTUD2 were determined to cause syndromic esophageal atresia (EA), as ...
Albrecht, Beate, Brunner, Han G, Callewaert, Bert, Czeschik, Johanna Christina, Falkenberg Smeland, Marie, Frostad Riise Stensland, Hilde Monica, Hehr, Andreas, Hehr, Ute, Kuechler, Alma, König, Rainer, Lüdecke, Hermann-Josef, Marcelis, Carlo, Martin, Marcel, Mégarbane, André, Neveling, Kornelia, Puiu, Maria, Rahmann, Sven, Reardon, Willie, Schweiger, Bernd, Steehouwer, Marloes, Teller, Christopher, Voigt, Claudia, von Deimling, Florian, Wieczorek, Dagmar   +23 more
core   +5 more sources

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes – a literature review and three case reports [PDF]

, 2016
Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes.
Jakovljević, A., Lazić, E., Nedeljković, N., Nikodijević Latinović, A.   +3 more
core   +3 more sources

Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency

Journal of Bone and Mineral Research, Volume 35, Issue 3, Page 528-539, March 2020., 2020
ABSTRACT Biallelic ENPP1 deficiency in humans induces generalized arterial calcification of infancy (GACI) and/or autosomal recessive hypophosphatemic rickets type 2 (ARHR2). The latter is characterized by markedly increased circulating FGF23 levels and renal phosphate wasting, but aberrant skeletal manifestations associated with heterozygous ENPP1 ...
Ralf Oheim, Kristin Zimmerman, Nathan D Maulding, Julian Stürznickel, Simon von Kroge, Dillon Kavanagh, Paul R Stabach, Uwe Kornak, Steven M Tommasini, Mark C Horowitz, Michael Amling, David Thompson, Thorsten Schinke, Björn Busse, Thomas O. Carpenter, Demetrios T Braddock   +15 more
wiley   +1 more source

Pediatric Dental Management of an Uncommon Case of Mucopolysaccharidosis Type IV A (Morquio A Syndrome): A Case Report of a Three‐Year Follow‐Up

Case Reports in Dentistry, Volume 2020, Issue 1, 2020., 2020
Mucopolysaccharidosis type IV A or Morquio syndrome is an uncommon inherited metabolic condition caused by the deficient intralysosomal storage of glycosaminoglycans. Diagnosis is typically based on clinical examination, skeletal radiographs, and histochemical tests in blood cells or fibroblasts.
Andrea Gómez-González, Miguel Ángel Rosales-Berber, Paola De Ávila-Rojas, Amaury Pozos-Guillén, Arturo Garrocho-Rangel, Muawia A. Qudeimat   +5 more
wiley   +1 more source

Monozygotic twins discordant for Goldenhar syndrome [PDF]

, 2006
OBJECTIVE: To report on a pair of monozygotic female twins discordant for Goldenhar syndrome. DESCRIPTION: The affected twin was a girl, who was delivered by caesarean section at 35 weeks' gestation.
Damian, Nicholas Godoy Canazza, Ferreira, Cristina H. F., Melo, Débora Gusmão, Pavarina, Lucimara P., Verona, Leonardo Lima   +4 more
core   +2 more sources

Unilateral Partial Aphalangia and Hemimelia in an Adult Dog and Cat: Clinical Presentation and Radiography Findings [PDF]

, 2023
Congenital digital deformities are uncommon anomalies in dogs and cats and many of them are still not recorded in veterinary literature. This report describes the clinical presentation and radiological findings in a 3-year-old male German shepherd dog ...
Abu-Seida, AM
core   +1 more source