Results 81 to 90 of about 228,263 (297)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher +6 more
wiley +1 more source
Squamous cell carcinoma of gingiva: An enigmatic lesion
SRM Journal of Research in Dental Sciences, 2016 Squamous cell carcinoma (SCC) is the most frequent malignant neoplasm affecting structures of the oral mucosa, which accounts for more than 90% of all malignant lesions in the mouth.
Puneet Bajaj +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy +15 more
wiley +1 more source
Expression of Cyclooxygenase-1 and Cyclooxygenase-2 in normal and pathological human oral mucosa
Folia Histochemica et Cytobiologica, 2010 Cyclooxigenase (COX) is the rate-limiting enzyme for the conversion of arachidonic acid (AA) to prostaglandins(PGs). Two isoforms of COX have been identified: COX-1 is constitutively expressed in many cells and is involved in cellhomeostasis ...
Annamaria Mauro +7 more
doaj
Endoscopic therapy for Barrett′s esophagus
Journal of Digestive Endoscopy, 2012 Barrett’s esophagus (BE) is the precursor lesion to esophageal adenocarcinoma. This cancer has undergone a rapid increase in incidence in Western societies in the last 30 years.
Nicholas J. Shaheen
doaj +1 more source
Multiple Epiphysial Dysplasia [PDF]
, 1958 H. Barrie, C. Carter, J. Sutcliffe
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter +6 more
wiley +1 more source
Role of C-erbB2 expression in gallbladder cancer
Indian Journal of Pathology and Microbiology, 2012 Background: Gallbladder cancer (GBC) is a lethal malignancy presenting at an advanced stage. The pathogenesis is not well categorized, and surgery is the only treatment available at the early stage of the disease.
Niraj Kumari +4 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera +12 more
wiley +1 more source