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

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
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Science for the Brain
The nation's leading supporter of biomedical research on disorders of the brain and nervous system More about Coffin Lowry Syndrome
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You are here: Home Disorders Coffin Lowry NINDS Coffin Lowry Syndrome Information Page
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Email this to a friend or colleague Table of Contents (click to jump to sections) What is Coffin Lowry Syndrome? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Coffin Lowry Syndrome? Is there any treatment? There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services. What is the prognosis? The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. What research is being done?

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/
COFFIN LOWRY SYNDROME
SYNDROME DE COFFIN LOWRY
MUTATIONS DATA BASE
BIBLIOGRAPHY
SUBMISSION of ADDITIONAL MUTATIONS
and POLYMORPHISMS
Letters and forms- Instructions resquestedfor mutation analysis in patients Clinical description form
USEFUL LINKS

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

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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
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Thursday, September 08, 2005 WebMD Main Condition Centers Medical Library Health Tools ... For a Complete Report Coffin Lowry Syndrome
Important
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.
Synonyms
  • Coffin Syndrome Mental Retardation with Osteocartilaginous Abnormalities
Disorder Subdivisions
  • None
General Discussion
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.
Resources
The Arc (a national organization on mental retardation)

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
var hwPrint=1;var hwDocHWID="nord425";var hwDocTitle="Coffin Lowry Syndrome";var hwRank="1";var hwSectionHWID="nord425-Header";var hwSource="en-caQ2_05";var hwDocType="Nord";
National Organization for Rare Disorders, Inc.
Coffin Lowry Syndrome
Important
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.
Synonyms
  • Coffin Syndrome Mental Retardation with Osteocartilaginous Abnormalities
Disorder Subdivisions
  • None
General Discussion
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.
Resources
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
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Category: All Categories Literature Art Business History Humanities Social Sciences Sciences Grade Level: All Grade Levels Elementary School Middle School Junior High School High School College - Undergrad College - Graduate Search Terms: as Phrase Match All Coffin Lowry Syndrome
Grade Level: High School , Section: Genetics , Rating:
Summary: Describes the disease Coffin Lowry Syndrome. Explains its causes, how it is diagnosed and details possible treatments for the genetic disorder. 5.6 pages / 1669 words Read Essay
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
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Health Information - Rare Diseases and Disorders
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National Organization for Rare Disorders, Inc.
Coffin Lowry Syndrome
Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report
Important
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.
Synonyms
  • Coffin Syndrome Mental Retardation with Osteocartilaginous Abnormalities
Disorder Subdivisions
  • None
General Discussion
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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