41. COFFIN-LOWRY SYNDROME: Contact A Family - For Families With Disabled Children: Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/c45.html

printer friendly COFFIN-LOWRY SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Coffin-Lowry syndrome (CLS) is a rare inherited disorder of craniofacial and skeletal abnormalities, short stature and learning disability. It was described separately by Dr G S Coffin in 1966 and by Dr R B Lowry in 1971. In 1975 the two descriptions were recognised as the same disorder and named Coffin-Lowry syndrome. CLS affects both males and females. CLS is caused by a defective gene, RSK2, on the X chromosome (Xp22.2-p22.1). It is not clear how mutations (changes) in the DNA structure of the gene lead to the manifestations of the disorder. CLS is characterised by a number of features some of which, to a greater or lesser degree of severity, are present in affected individuals, with females likely to be less severely affected. Manifestations include: significant learning delay (see entry, Learning Disability mild to moderate restricted growth (see entry, Restricted Growth speech problems (see entry

42. Coffin-Lowry Syndrome Definition - Medical Dictionary Definitions Of Popular Med Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=20785

43. FSP Syndromes coffinlowry syndrome l Ribosomal Protein S6 kinase, 90 kD, Polypeptide 3 ;Xp22.2-p22.1; External link Image coffin-lowry syndrome Foundation http://www.neuro.wustl.edu/neuromuscular/spinal/fsp.html

Front Search Index Links ... Patient Info FAMILIAL SPINAL CORD SYNDROMES General principles Familial Spastic Paraplegia ( SPG Dominant : Atlastin; 14q11 : Spastin; 2p22 SPG 12q Recessive : Paraplegin; 16q24 (Troyer): Spartin; 13q12.3 (Mast): Maspardin; 15q22 Infantile onset : Alsin; 2q33 SPOAN X-linked : Proteolipid protein; Xq22 Other: Deafness Familial Spastic Paraplegia +... Ataxia CNS Ocular PNS ... Systemic Disorders Leukodystrophies Adrenomyeloneuropathy : ALDP; Xq28 Adult-onset Krabbe : GalC; 14q31 MLD : Arylsulfatase A; 22q13 Familial Spinal Cord Syndromes AAA syndrome : Aladin; 12q13 Adrenomyeloneuropathy : ALDP; Xq28 Alexander : GFAP; 17q21; Dominant Alzheimer's : Presenilin 1; 14q24; Dominant Arnold-Chiari Malformation (SPG9): 10q23; Dominant Cavanagh's Cerebral palsy-Symmetrical Cerebrotendinous xanthomatosis : Cytochrome 450; 2q33 Charlevoix-Saguenay : Sacsin; 13q11 Deafness : X-linked DRPLA : DRPLA protein; 12p13; Dominant Dystonias: DOPA-responsive Episodic ataxia : 1p; Dominant Evans Fitzsimmons syndrome Friedreich ataxia : FRDA; 9q13 Hereditary Motor Syndromes HHH syndrome HMN + UMN signs : Senataxin; 9q34

44. Coffin-Lowry Syndrome - St. Joseph Mercy, Ann Arbor Michigan coffinlowry syndrome - St. Joseph Mercy Health System Hospitals serving AnnArbor, SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/13099.cfm

@import url(default.css); Online Health Information Health Information - Support Groups Back to Health Library Print This Page Email to a Friend Self Help Clearinghouse Coffin-Lowry Syndrome The Coffin-Lowry Syndrome Foundation This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. The Coffin-Lowry Syndrome Foundation International network. Founded 1991. Serves as a clearinghouse for information on Coffin-Lowry syndrome. Forum for exchanging experiences, advice and information with other CLS families. Seeks to become a visible group in the medical, scientific, educational, and professional communities in order to facilitate referrals of newly diagnosed individuals, and to encourage medical and behavioral research in order to improve methods of social integration of CLS individuals. Maintains mailing list of families and professionals. Provides newsletter, family support, informational packet. WRITE: CLS Fdn.

45. GeneReviews: Coffin-Lowry Syndrome Your browser does not support HTML frames so you must view coffinlowry Syndromein a slightly less readable form. Please follow this link to do so. http://www.genereviews.org/profiles/cls/

Your browser does not support HTML frames so you must view Coffin-Lowry Syndrome in a slightly less readable form. Please follow this link to do so.

46. Coffin-Lowry (RSK2) coffinlowry syndrome is an X-linked mental retardation condition caused bymutations in the protein kinase gene, RSK2, localized to Xp22. Males present http://www.ggc.org/rnadiagnostics/Coffin-Lowry.htm

47. Fatima E. Abidi, Ph.D. coffinlowry syndrome During the course of her research, over 20 differentmutations have been identified in the RSK2 gene that causes coffin-lowry http://www.ggc.org/faculty/abidi.html

Fatima E. Abidi, Ph.D. Who to Contact Site Index Search GGC Website var MenuLinkedBy='AllWebMenus [4]', awmBN='622'; awmAltUrl=''; Staff Scientist B.S. (Chemistry Honors), Aligarh Muslim University, India, 1982 M.S. (Biochemistry), Aligarh Muslim University, India, 1984 Ph.D. (Molecular Biology), St. Louis University, Missouri, 1995 Postdoctoral Fellow/Research Associate, Center for Molecular Studies, JC Self Research Institute of Human Genetics, Greenwood Genetic Center, 1995-2000 Staff Scientist, Center for Molecular Studies, JC Self Research Institute of Human Genetics, Greenwood Genetic Center, 2001-present Dr. Abidi’s research interests focus on understanding the causes of X-linked mental retardation and birth defects. She has had extensive experience in long-range genome mapping, molecular cloning, mutation analyses and the characterization of gene structure and function. Specific research projects include: Identification of genes responsible for X-Linked mental retardation at chromosome Xp11.4-Xp11.1. Recently Dr. Abidi has identified a two base pair deletion in the TM4SF2 gene that causes non-syndromic mental retardation in MRX58.

48. Short Description Of Cell Lines. Pathology: Coffin-Lowry Syndrome *303600 Version 4.200205. Short description of cell lines. Pathology coffinLowrysyndrome *303600 OMIM record. - By selecting the cell line name, you will receive http://www.biotech.ist.unige.it/cldb/pat58.html

Version Short description of cell lines. Pathology: Coffin-Lowry syndrome OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM By Beatrice...

49. Coffin-lowry Syndrome coffinlowry syndrome. This article submitted by Tom BLOEMEN on 1/7/97. 1 month ago he was diagnosed suffering from the coffin-lowry syndrome. http://neuro-www.mgh.harvard.edu/neurowebforum/GeneralFeedbackArticles/1.7.9711.

coffin-lowry syndrome This article submitted by Tom BLOEMEN on 1/7/97. Author's Email: Tom_bloemen@concentra.be Hi there, 4 months ago, mij cousin and his wife had their first baby. 1 month ago he was diagnosed suffering from the COFFIN-LOWRY SYNDROME. Since I am from Belgium, and since this is a very rare birth deficiency, it is very difficult for me to find any information about this syndrome. I would welcome any suggestions, tips, internet-sites, personal Emails etc. in order to provide my cousin with as much info about this disease as possible so that he may give his child the best possible care. So, if you are out there, somewhere in this world, and have any info whatsoever (book titles, etc.) I would be very grateful to receive this. Next Article Previous Article Return to Topic Menu Here is a list of responses that have been posted to this article... You now have TWO OPTIONS: Post a new Article or post a Response to this Article Click here to post a new Article! If you would like to post a Response to this article, fill out this form completely... Do not use slashes ("/") or colons (":") or other "special" characters in your Article title!

50. Coffin-Lowry Syndrome, Eastern Carolina coffinlowry syndrome - University Health Systems of Eastern Carolina servestarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties in http://www.uhseast.com/117604.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. Coffin-Lowry Syndrome This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. The Coffin-Lowry Syndrome Foundation International network. Founded 1991. Serves as a clearinghouse for information on Coffin-Lowry syndrome. Forum for exchanging experiences, advice and information with other CLS families. Seeks to become a visible group in the medical, scientific, educational, and professional communities in order to facilitate referrals of newly diagnosed individuals, and to encourage medical and behavioral research in order to improve methods of social integration of CLS individuals. Maintains mailing list of families and professionals. Provides newsletter, family support, informational packet. WRITE: CLS Fdn.

51. Resources For Genetic Counselors - Coffin-Lowry Syndrome coffinlowry syndrome Posted on Wednesday, February 09 @ 211100 EST by debi coffin-lowry syndrome Foundation 3045 255th Avenue SE Sammamish, WA 98075 http://www.genesoc.com/counseling2/article45.html

Modules Home FAQ Feedback Forums ... Your Account Who's Online There are currently, 8 guest(s) and member(s) that are online. You are Anonymous user. You can register for free by clicking here Languages Select Interface Language: Albanian Arabic Brazilian Catala Chinese Czech Danish Dutch English Euskara Finnish French Galego German Greek Hungarian Icelandic Indonesian Italian Macedonian Norwegian Polish Portuguese Romanian Russian Slovak Slovenian Spanish Swedish Thai Turkish Ukrainian Vietnamese Login Nickname Password Security Code: Type Security Code Don't have an account yet? You can create one . As a registered user you have some advantages like theme manager, comments configuration and post comments with your name. Old Articles Thursday, February 10 VATER Association Turner Syndrome Tuberous Sclerosis Trisomy 18 ... Older Articles Coffin-Lowry Syndrome Posted on Wednesday, February 09 @ 21:11:00 CST by debi Coffin-Lowry Syndrome April 2003 v Mode of Inheritance: X-linked dominant v Chromosome location: Xp22.2-p22.1 v Molecular genetics Ø Coffin-Lowry gene is a growth factor regulated serine-threonine kinase (RPS6KA3 or RSK) § Kinase activation in a number of pathways § Plays a role in stimulation of the cell cycle between G and G § Activates CREB (cAMP response element binding protein) · Involved in neuronal survival · Involved in conversion from short term to long term memory § Cells in patients with CLS have defective EGF stimulated phosphorylation of S6 Ø There are normal variants/polymorphisms Ø Normal gene product: ribosomal protein S6 kinase alpha 3

52. Rare Pediatric Disease Database WHAT coffinlowry syndrome (CLS) is a genetic disorder characterized by mental WHO coffin-lowry syndrome occurs in about 1 in 40000 to 1 in 50000 http://www.madisonsfoundation.org/content/3/1/display.asp?did=185

53. Coffin-Lowry Syndrome - Talk Medical Humanfriendly medical definition of coffin-lowry syndrome. http://www.talkmedical.com/medical-dictionary/3145/Coffin-Lowry-Syndrome

Home Medications Medical Dictionary Talk Medical ... Medical Dictionary Newsletter Subscribe to the free monthly health digest. Relevant health articles just for you. Tell a friend Coffin-Lowry Syndrome Coffin-Lowry syndrome: An X-linked form of mental retardation in which the affected males have short stature and characteristic face, finger and skeletal abnormalities. Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth. The hands are large and soft with lax skin and tapering fingers. Skeletal changes include kyphosis/scoliosis and pectus carinatum (pigeon breast) or pectus excavatum (caved-in chest). The syndrome is due to mutation of the gene on the X chromosome that encodes RSK2, a growth-factor regulated protein kinase. Print this page About Talk Medical Help Contact Us ... Terms and Conditions

54. Coffin-Lowry Syndrome: Clinical And Molecular Features -- Hanauer And Young 39 ( The coffinlowry syndrome (CLS) is a rare X linked disorder in which affectedmales show severe mental retardation with characteristic dysmorphism, http://jmg.bmjjournals.com/cgi/content/abstract/39/10/705

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Hanauer, A Articles by Young, I D Related Collections Genetics Journal of Medical Genetics Journal of Medical Genetics REVIEW ARTICLE Coffin-Lowry syndrome: clinical and molecular features A Hanauer and I D Young Department of Clinical Genetics, Leicester Royal Infirmary, Leicester LE1 5WW, UK Correspondence to: Professor I D Young, Department of Clinical Genetics, Leicester Royal Infirmary, Leicester LE1 5WW, UK; ABSTRACT The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face

55. Coffin-Lowry Syndrome: Clinical And Molecular Features -- Hanauer And Young 39 ( http://jmg.bmjjournals.com/cgi/reprint/39/10/705

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56. GEMdatabase - Selected Title TITLE, coffinlowry syndrome. DESCRIPTION, This review focuses on the and genetic counseling of patients and families with coffin-lowry syndrome. http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=860

57. Stimulus-Induced Drop Episodes In Coffin-Lowry Syndrome -- Nelson And Hahn 111 ( coffinlowry syndrome (CLS) is a rare disorder characterized by moderate to Key Words coffin-lowry syndrome • drop episodes • nonepileptic events http://pediatrics.aappublications.org/cgi/content/abstract/111/3/e197

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Supplemental Videos ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager PubMed PubMed Citation Articles by Nelson, G. B. Articles by Hahn, J. S. Related Collections PEDIATRICS Vol. 111 No. 3 March 2003, pp. e197-e202 ELECTRONIC ARTICLE Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome V Gregg B. Nelson, MD and Jin S. Hahn, MD Objective. Coffin-Lowry syndrome (CLS) is a rare disorder characterized by moderate to severe mental retardation, facial dysmorphism, tapering digits, and skeletal deformity. Paroxysmal drop attacks occur in patients with CLS, characterized by sudden loss of muscle tone induced by unexpected tactile or auditory stimuli. Our objective is to characterize these attacks better using neurophysiologic studies. View larger version [in this window] [in a new window] Fig 1.

58. Stimulus-Induced Drop Episodes In Coffin-Lowry Syndrome -- Nelson And Hahn 111 ( In this 16year-old boy with coffin-lowry syndrome, an unexpected pull on the In our second patient with coffin-lowry syndrome, sudden drop episodes http://pediatrics.aappublications.org/cgi/content/full/111/3/e197/DC1

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text P Rs: Submit a response Services E-mail this article to a friend Alert me to new issues of the journal Add to My File Cabinet Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome Pediatrics Nelson and Hahn 111 (3): 197. Supplemental Videos Figure 1. In this 16-year-old boy with Coffin-Lowry syndrome, an unexpected pull on the shoulders by the examiner leads to a sudden loss of tone with an abrupt drop to the ground. He recovers rapidly and there is no loss of consciousness. Figure 2. In our second patient with Coffin-Lowry syndrome, sudden drop episodes began at five years of age. This video clip demonstrates that the drop episodes could be triggered by bumping into the furniture while backing up. Sometimes they were triggered by a gentle pull on his EEG leads. At 13 years of age, episodes were triggered by a loud noise. These episodes had changed in characteristic, and consisted of sudden arm extension and forward lurching of the body. If they occured while he was standing, he would fall to the ground. This Article Abstract Full Text P Rs: Submit a response Services E-mail this article to a friend Alert me to new issues of the journal Add to My File Cabinet

59. Karger Publishers LateOnset Sensorineural Hearing Loss in coffin-lowry syndrome The coffin-lowrysyndrome (CLS) is a rare clinical entity where patients present with a http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

60. Coffin-Lowry Syndrome.,Ahuja Sanjeev R, Upadhye S, Kulkarni Hemant V, Kulkarni M Indian Journal of Pediatrics is an open access http://www.ijppediatricsindia.org/article.asp?issn=0019-5456;year=2003;volume=70

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