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Results for “PHILATELY”

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At least 37 records · Page 2Linked to original sources
PubMed2002

Genetic landmarks through philately: Luís Morquio 1867-1935.

Morquio syndrome, also known as Mucopolysaccharidosis Type IV, is well known to pediatricians and geneticists, although it is rare. Many do not know much about the physician who first described this lysosomal disorder. In this brief review, the person and the disease are described, along with philatelic illustrations that have been issued to honor this famous Latin American medical hero.

Family Health↗
PubMed2003

Landmarks in genetics through philately: the tools used by dysmorphologists.

This essay liberally uses stamps from around the world to illustrate the many tools at the disposal of clinical geneticists and dysmorphologists. The tools begin with the construction of a family tree and eventually lead to the utilization of computers and the Internet as important diagnostic resources.

Anatomy↗
PubMed2003

Landmarks in genetics through philately: Down syndrome.

Down syndrome (DS) is one of the most common chromosomal disorders; however, the molecular pathogenesis and cause remains elusive. Many advances have been made in pre-natal screening and detection, but there have been few real advances in the primary prevention or treatment of DS. DS individuals have been depicted on several philatelic materials; we present some of these stamps and philatelic covers, as well as other complementary stamps, as a means to illustrate issues relevant to this disorder.

Chromosomes, Human, Pair 21↗
PubMed2003

Genetic landmarks through philately: Georges Marinesco (1863-1938).

Georges Marinesco was one of Romania's most eminent physicians and an accomplished neurologist. He had diverse interests in anatomy and neuropathology. He has been honored on postage stamps issued by his birth nation on several occasions. Neurologists and geneticists know of him for the rare familial degenerative neurological disorder that has been named after him, the Marinesco-Sjögren syndrome.

History, 19th Century↗
PubMed2004

Genetic landmarks through philately--epilepsy and clinical genetic issues.

Epilepsy is a common neurologic disorder. Major advances in the understanding of the etiology and treatment have occurred. Although most cases of epilepsy do not follow a simple pattern of inheritance, recently single gene epilepsy disorders have been identified. We present some postage stamps to illustrate issues and advances in knowledge about epilepsy, as well as famous people with this disorder.

Epilepsy↗
PubMed2004

Genetic landmarks through philately - autism spectrum disorders: a genetic update.

Autism spectrum disorders (ASD) represent a heterogeneous group of developmental disorders that present a challenge to geneticists because of their complex etiology and inheritance. This article reviews some of the advances in our understanding of causation in ASD and the role in which molecular genetic investigations have helped in unraveling the mystery of ASD. There have been few postage stamps issued relevant to ASD. Because of the need for early diagnosis and improved recognition, some countries may consider issuing stamps to highlight the importance of ASD to the population and to raise awareness and money for research funding.

Animals↗