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Les achats comprennent une adhésion à l'essai gratuite au club de livres de l'éditeur, dans lequel vous pouvez choisir parmi plus d'un million d'ouvrages, sans frais. Le livre consiste d'articles Wikipedia sur : Syndrome D'apert, Syndrome de Rubinstein-Taybi, Syndrome Oro-Facio-Digital Type 1, Syndrome de Greig, Syndrome de Pfeiffer, Syndrome de Saethre-Chotzen, Syndrome de Crouzon, Déficit En Cytochrome P 450 Oxydoréductase, Syndrome de Muenke, Syndrome Main Pied Utérus. Non illustré. Mises à jour gratuites en ligne. Extrait : La maladie d'Apert est une craniosynostose en rapport avec une mutation du gène FGFR3. Cette mutation du gène FGFR3 est responsable d'autres craniosynostose regroupées sous le nom de craniosynostose FGFR dépendante.Les sutures du crâne qui fusionnent dans cette maladie sont les sutures coronales. Mutation du gène FGFR2 ou fibroblast growth factor receptor-2 localisé sur le locus q26 du chromosome 10. Il existe deux allèles de cette mutation. Certaines études suggèrent que l'âge paternel augmenterait le risque d'apparition de cette pathologie. Le syndrome d'Apert est réputé s'accompagner fréquemment d'une débilité mentale, à l'origine de laquelle des malformations cérébrales pourraient jouer un rôle important. 1 nouveau-né sur 100 000 en France et 1 nouveau-né sur 50 000 aux États-Unis. Les caractéristiques cliniques font facilement le diagnostic Est celui d'une craniosynostose La plupart des cas sont des mutations de novo mais les cas familiaux suggèrent une transmission autosomique dominante Une investigation soigneuse comprenant un examen en résonance magnétique nucléaire est nécessaire pour rechercher des malformations cérébrales associées. Les patients doivent être opérés tôt, idéalement avant l'âge de 9 mois. La qualité de l'environnement sociofamilial doit être optimisée . Une enquête familiale est indispensable. Le diagnostic de la maladie est possible par étude du caryotype en début de grossesse...http://booksllc.net/?l=fr ... Read more

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Information on many genetic disorders, and the frequent new findings on them, has been extremely difficult to come by—until now. The “Gale Encyclopedia of Genetic Disorders” addresses the need for current, hard-to-find facts on emerging discoveries. The two-volume Encyclopedia, presented in a single alphabetical sequence, provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand, in language accessible to laypersons. The articles are arranged in a standardized format for quick comparison and ease of use, while non-disorder topics are covered in detail with extended entries. Students will want to consult the “Gale Encyclopedia of Genetic Disorders” for useful information on a range of well known disorders, including Down Syndrome, Trisomy, Hemophilia and Tourette Syndrome, and rarely seen diseases such as Meckel Syndrome, Neuraminidase Deficiency and Phenylketonuria.

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In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Rubinstein-Taybi syndrome is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. ... Read more

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This digital document is an article from Palaestra, published by Thomson Gale on March 22, 2006. The length of the article is 4910 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

Citation Details
Title: Cornelia de lange syndrome / maple syrup urine disease / Rubinstein-Taybi syndrome: behavior issues, activities, and conclusions.
Author: Robert C. Weber
Publication: Palaestra (Magazine/Journal)
Date: March 22, 2006
Publisher: Thomson Gale
Volume: 22Issue: 2Page: 36(6)

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CONTENTS CHAPTER IINTRODUCTIONProblems to be Treated--Degrees of Consanguinity--Literature of the Subject--Noah Webster--Bemiss--Dally--G.H. Darwin--Huth--Bell--Legal Status in the United States--Methods of Investigation--Genealogical--Personal--Isolated Communities CHAPTER IIRATIO OF THE CONSANGUINEOUS TO ALL MARRIAGESPrevious Estimates--Mayo-Smith--Mulhall--Darwin--Application of Darwin's Method to American Data--Direct Method--Consanguineal Attraction--Same-name and Different-name Cousin Marriages--Summary CHAPTER IIIMASCULINITYConstancy of the Sex-ratio--Consanguinity and Masculinity--Theory of Westermarck and Thomas--Duesing--Gache--Negroes in the United States--Genealogical Material--Other Compilations--Summary CHAPTER IVCONSANGUINITY AND REPRODUCTIONTheories of the Effect of Consanguinity upon Offspring--Comparative Fertility--Statistics from Darwin and Bemiss--Genealogical Statistics--Youthful Death-rate--Degeneracy--Fallacies in the Work of Bemiss--Isolated Communities--_The Jukes_--Other Degenerate Families--Scrofula
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