Results 121 to 130 of about 9,184 (168)
Some of the next articles are maybe not open access.
2022
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is the prototype of syndromes due to defective development of the third and fourth pharyngeal pouch. Even though the association between thymic aplasia and congenital hypoparathyroidism was first observed by Sedlackova in 1955 and Lobdell in 1959, only in 1965 were these signs classified as a ...
Emilia Cirillo +4 more
openaire +2 more sources
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is the prototype of syndromes due to defective development of the third and fourth pharyngeal pouch. Even though the association between thymic aplasia and congenital hypoparathyroidism was first observed by Sedlackova in 1955 and Lobdell in 1959, only in 1965 were these signs classified as a ...
Emilia Cirillo +4 more
openaire +2 more sources
The DiGeorge Syndrome and the Fetal Alcohol Syndrome
Archives of Pediatrics & Adolescent Medicine, 1982Four patients with clinical and laboratory features of the DiGeorge syndrome had a definite history of maternal alcoholism. Certain clinical abnormalities in the patients were characteristic of the DiGeorge syndrome as well as the fetal alcohol syndrome, including abnormalities of the eyes, ears, mouth, face, cardiovascular system, CNS, and immune ...
A J, Ammann +4 more
openaire +2 more sources
Nihon rinsho. Japanese journal of clinical medicine, 2006
Hiromichi, Hamada, Masaru, Terai
+5 more sources
Hiromichi, Hamada, Masaru, Terai
+5 more sources
DiGeorge Syndrome: New Insights
Clinics in Perinatology, 2005Most patients with the clinical features of DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes share a common genetic cause, namely, a deletion of chromosome 22q11, and define the most common deletion syndrome known at this time. The clinical features of the 22q11 deletion syndrome are highly variable between individuals; some have ...
openaire +2 more sources