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

Accessible version 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 Studies with patients Research literature Press releases Search NINDS... (help) Contact Us My Privacy NINDS is part of the National Institutes of Health You are here: Home Disorders Coffin Lowry NINDS Coffin Lowry Syndrome Information Page Get Web page suited for printing 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

HOME Coffin-Lowry Syndrome COFFIN LOWRY SYNDROME Short description of cell lines Complete list of candidates associated to Coffin-Lowry syndrome The Coffin-Lowry Syndrome Foundation ... HOME

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

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; 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

Search BookRags.com English History Other Subjects Essays Biographies Research Topics eBooks Register Login Help Literature Study Guides ... Games Welcome, Guest Why not Login or Register Essays Navigation Submit an Essay for Points View My Essays Explain Points and Status Home Essays › Coffin Lowry Syndrome Help/FAQ 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

@import url(default.css); Online Health Information Health Information - Rare Diseases and Disorders Back to Health Library Print This Page Email to a Friend 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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