12 Miwa I(,Matsubara T,Uno Y.et a1.Combination therapy with oral sildenafil and bemprost for pulmonary arterial hypertension associated with CREST syndrome.Int Heart J.2007,48:417-422. (收稿日期:2009--08-12) (本文编辑:尚玮) 万方数据 ...
The best phenocopy of cardiac neural crest ablation is in human DiGeorge syndrome, and the gene or genes that underlie these anomalies will be very informative about the function of cardiac neural crest cells. On the other hand, double outlet right ventricle (DORV) is most likely associated ...
Management of CREST syndrome is similar to that of localized cutaneous systemic sclerosis. Sometimes the lesions of calcinosis cutis become symptomatic and require excision. Monitoring for pulmonary hypertension and primary biliary cirrhosis is prudent, although these occur less frequently and later in the...
intermediate syndrome intermediate temporal branches of lateral occipital artery intermediate tendon intermediate trait intermediate uveitis intermediate variable intermediate white layer TA of superior colliculus intermediate zone of iliac crest intermediate-filament proteins ...
Report of a case and review of the literature. B cell malignant lymphoma in a patient with progressive systemic sclerosis and Sjo¨gren's syndrome: report of a case and review of the literature. Jpn... S Sugai,T Takiguchi,Y Hirose,... - 《Jpn J Med》 被引量: 19发表: 1985年 ...
Domestication of the Human: The Biology and Psychology of Aesthetics The majority of patients were reported to have an underlying neural crest tumor (5). ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases Melanotic neuroectodermal tumor of infancy (MNTI) is a rare, rapidl...
ANKRD11 (Ankyrin Repeat Domain 11) is a chromatin regulator and a causative gene for KBG syndrome, a rare developmental disorder characterized by multiple organ abnormalities, including cardiac defects. However, the role of ANKRD11 in heart development is unknown. The neural crest plays a leading...
Lindsay EA, Botta A, Jurcic V, Carattini-Rivera S, Cheah YC, Rosenblatt HM, Bradley A, Baldini A (1999) Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature 401:379–383 PubMed CAS Google Scholar Lindsay EA, Vitelli F, Su H, Morishima M, Huyuh T, Pr...
Here we demonstrate that mice deficient for one type of endothelin receptor, ETA, mimic the human conditions collectively termed CATCH 22 or velocardiofacial syndrome, which include severe craniofacial deformities and defects in the cardiovascular outflow tract. We show that ETA receptor mRNA is ...
Moreover, haploinsufficiency of Sox10 both in mice and human patients leads to Waardenburg/Hirschsprung syndrome characterized by enteric aganglionosis and pigmentation defects (Britsch et al., 2001; Herbarth et al., 1998; Kapur, 1999; Paratore et al., 2002; Pingault et al., 1998; Southard...