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Coffin Lowry Syndrome:     more detail

The Official Parent's Sourcebook on Coffin-lowry Syndrome: A Directory for the Internet Age by Icon Health Publications, 2005-01-30 Coffin-Lowry Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20 Coffin-Lowry syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Roger, MD Stevenson, 2005

lists with details

1. Coffin Lowry Syndrome Information Page: National Institute Of Neurological Disor
   coffin lowry syndrome information sheet compiled by the National Institute ofNeurological Disorders and Stroke (NINDS)  
   http://www.ninds.nih.gov/disorders/coffin_lowry/coffin_lowry.htm

2. NORD - National Organization For Rare Disorders, Inc.
   General information about this syndrome, its alternative names and further resources.  
   http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Coffin Lowry

3. Coffin Lowry Syndrome Information Page National Institute Of
   coffin lowry syndrome information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS)  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Coffin-Lowry Syndrome Foundation
   The CoffinLowry Syndrome Foundation Web Site has moved.  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

5. Coffin-Lowry Syndrome / Family Village Library
   CoffinLowry Syndrome  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Coffin-Lowry Syndrome (CLS)
   View the Full Record. Syndrome CoffinLowry syndrome (CLS) Synonyms. Coffin syndrome 2. Coffin-Siris-Wegienka syndrome soft hands syndrome.  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Coffin-Lowry Syndrome
   CoffinLowry Syndrome information and resources, genetic information, support groups  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Coffin-Lowry Syndrome - Genetics Home Reference
   CoffinLowry syndrome. On this page What is Coffin-Lowry syndrome? How common is Coffin-Lowry syndrome?  
   http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Coffin & Lowry
   coffin lowry syndrome. SYNDROME DE COFFIN LOWRY. MUTATIONS DATA BASE BIBLIOGRAPHY SUBMISSION of ADDITIONAL MUTATIONS and POLYMORPHISMS .  
   http://alsace.u-strasbg.fr/chimbio/diag/coffin/

10. FSP Syndromes
    instability Cleidocranial dysplasia RUNX2; 6p21 CoffinLowry RPS6KA3; Xp22 Collagen, type Sj gren-Larsson Syndrome. Rett syndrome  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Cognitive Impairment In Coffin-Lowry Syndrome Correlates With
    and A. Hanauer Expression analysis of RSK gene family members the RSK2 gene, mutated in CoffinLowry syndrome, is prominently expressed in  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Expression Analysis Of RSK Gene Family Members The RSK2 Gene
    Expression analysis of RSK gene family members the RSK2 gene, mutated in CoffinLowry syndrome, is prominently expressed in brain structures  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. Expression Analysis Of RSK Gene Family Members The RSK2 Gene
    Your browser does not support frames. Click here to view the unframed reprint.  
    http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. Www.nlm.nih.gov/cgi/mesh/2003/MB_cgi?term=COFFIN-L
    More results from www.nlm.nih.gov Open Directory Health Conditions and Diseases Genetic NINDS coffin lowry syndrome - Information sheet compiled by the National NORD coffin lowry syndrome - General information about this syndrome,  
    http://www.nlm.nih.gov/cgi/mesh/2003/MB_cgi?term=COFFIN-LOWRY SYNDROME

15. Coffin-Lowry Syndrome
    coffin lowry syndrome Short description of cell lines Complete list ofcandidates associated to CoffinLowry syndrome The Coffin-Lowry Syndrome  
    http://www.bdid.com/coffinlowry.htm

16. WebMD With AOL Health - Coffin Lowry Syndrome
    Coffin Lowry syndrome is a rare genetic disorder characterized by mentalretardation; abnormalities  
    http://aolsvc.health.webmd.aol.com/hw/raising_a_family/nord425.asp
    
    Extractions: Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities. Characteristic facial features may include an underdeveloped upper jawbone (maxillary hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and/or unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis) and unusual prominence of the breastbone (sternum) (pectus carinatum). Coffin-Lowry syndrome is caused by mutations in the RSK2 gene and is inherited as an X-linked dominant genetic trait. Males are usually more severely affected than females.

17. Coffin Lowry Syndrome
    CoffinLowry syndrome is a rare genetic disorder characterized by mental retardation;abnormalities of the head and facial (craniofacial) area; large,  
    http://www.bchealthguide.org/kbase/nord/nord425.htm
    
    Extractions: It is possible that the main title of the report Coffin Lowry Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities. Characteristic facial features may include an underdeveloped upper jawbone (maxillary hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and/or unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis) and unusual prominence of the breastbone (sternum) (pectus carinatum). Coffin-Lowry syndrome is caused by mutations in the RSK2 gene and is inherited as an X-linked dominant genetic trait. Males are usually more severely affected than females. The Arc (a national organization on mental retardation)

18. Coffin Lowry Syndrome Essay
    coffin lowry syndrome is a rare genetic disorder distinguished by mental coffin lowry syndrome can be inherited. A woman who has coffin lowry syndrome  
    http://www.bookrags.com/essays/story/2005/6/3/101955/9556
    
    Extractions: The cause of the disease and what is it? Coffin Lowry Syndrome is a rare genetic disorder distinguished by mental retardation. It is caused by a spontaneous mutation in the kinase Rsk-2 protein, a growth factor regulator. The gene was identified in 1996. The gene is located on the X chromosome; how malfunctioning gene produces the signs and symptoms is still not completely clear. Coffin Lowry Syndrome can be inherited. A woman who has Coffin Lowry Syndrome has a 50/50 chance of having a child with Coffin Lowry Syndrome, depending on which of her X chromosomes are inherited by the child.

19. Hill Health Topics A-Z - Coffin Lowry Syndrome
    coffin lowry syndrome. National Organization for Rare Disorders. Important It ispossible that the main title of the report coffin lowry syndrome is not the  
    http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord425&SE

20. Coffin Lowry Syndrome - St. Joseph Mercy, Ann Arbor Michigan
    coffin lowry syndrome St. Joseph Mercy Health System Hospitals serving AnnArbor, SE Michigan, Washtenaw County, Livingston County, Wayne County,  
    http://www.sjmercyhealth.org/13097.cfm
    
    Extractions: It is possible that the main title of the report Coffin Lowry Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities. Characteristic facial features may include an underdeveloped upper jawbone (maxillary hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and/or unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis) and unusual prominence of the breastbone (sternum) (pectus carinatum). Coffin-Lowry syndrome is caused by mutations in the RSK2 gene and is inherited as an X-linked dominant genetic trait. Males are usually more severely affected than females.

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