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Download Apert Syndrome - A Bibliography and Dictionary for by Philip M. Parker PDF

By Philip M. Parker

In March 2001, the nationwide Institutes of healthiness issued the next caution: "The variety of websites supplying health-related assets grows on a daily basis. Many websites supply precious details, whereas others could have details that's unreliable or misleading." in addition, due to the speedy bring up in Internet-based info, many hours should be wasted looking out, deciding on, and printing. considering that purely the smallest fraction of data facing Apert syndrome is listed in se's, equivalent to www.google.com or others, a non-systematic method of web learn could be not just time eating, but additionally incomplete. This publication was once created for doctors, scholars, and participants of most people who are looking to behavior clinical learn utilizing the main complicated instruments to be had and spending the smallest amount of time doing so.

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Extra resources for Apert Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers

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Source: Journal of the American Podiatric Medical Association. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=10881466&query_hl=4&itool=pubmed_docsum • Genetic and family study of the Apert syndrome. Author(s): Cohen MM Jr, Kreiborg S. Source: Journal of Craniofacial Genetics and Developmental Biology. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=2061407&query_hl=4&itool=pubmed_docsum • Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

Author(s): Lomri A, Lemonnier J, Hott M, de Parseval N, Lajeunie E, Munnich A, Renier D, Marie PJ. Source: The Journal of Clinical Investigation. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=9502772&query_hl=4&itool=pubmed_docsum • Inhibition or activation of Apert syndrome FGFR2 (S252W) signaling by specific glycosaminoglycans. Author(s): McDowell LM, Frazier BA, Studelska DR, Giljum K, Chen J, Liu J, Yu K, Ornitz DM, Zhang L. Source: The Journal of Biological Chemistry. db=pubmed&cmd=Retrieve&dopt=A bstractPlus&list_uids=16373332&query_hl=4&itool=pubmed_docsum • Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.

Mutations range in size from a single DNA building block (DNA base) to a large segment of a chromosome. Gene mutations occur in two ways: they can be inherited from a parent or acquired during a person’s lifetime. Mutations that are passed from parent to child are called hereditary mutations or germline mutations (because they are present in the egg and sperm cells, which are also called germ cells). This type of mutation is present throughout a person’s life in virtually every cell in the body.

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