Search PubMed⌕ Search

Biomedical subjects

B Say

Publications and source records attributed to B Say.

At least 145 records · Page 8Linked to original sources
PubMed1968

Down's syndrome.

Explore the source record for details and available documents.

Adult↗
PubMedDate not supplied

A panacea for all ills?

Explore the source record for details and available documents.

Anti-Inflammatory Agents, Non-Steroidal↗
PubMedDate not supplied

Werner's syndrome.

Explore the source record for details and available documents.

Adolescent↗
PubMedDate not supplied

Aase-Smith syndrome: report of a new case with unusual features.

A new case of Aase-Smith syndrome has been reported with additional findings, including microcephaly, axial rotation of the kidneys, preaxial polydactyly and leukopenia. The patient had almost complete clinical remission with corticosteroid treatment. The findings in this case suggest that it is very difficult to differentiate Aase-Smith syndrome from Blackfan-Diamond and Fanconi's anemias as well as from those cases reported by Murphy and Lubin, and Jones and Thompson.

Anemia, Aplastic↗
PubMedDate not supplied

Clinical expression of myotonic dystrophy: the predictive role of DNA diagnosis.

Myotonic dystrophy (DM), the most common muscular dystrophy of adult life, presents with a variety of clinical and genetic challenges to all involved; patients, their families, and clinicians. The clinical picture is extremely variable and may range from mild adult onset myotonia to severe congenital hypotonia associated with respiratory distress. An infant born to a mother with DM had remarkable hypotonia, expressionless face, respiratory difficulties, and club feet. Direct molecular genetic testing of the newborn and the mother showed trinucleotide repeat expansion mutations. Genetic counseling issues as well as the value of prenatal diagnosis are presented.

Adult↗