61. Health Library - coffinlowry syndrome. This information is provided as a resource and does notconstitute an endorsement for any group. The coffin-lowry syndrome Foundation. http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29c

62. Coffin-Lowry (syndrome De -) coffin-lowry(syndrome de -) coffin-lowry (syndrome de -) Voir cet article L étude d http://www.frm.org/informez/info_ressources_maladies_fiche.php?id=141

63. Syndrome De Coffin-Lowry : L’étude D’un Retard Mental Chez Des Souris Modèle syndrome de coffin-lowry l’étuded’un retard mental chez des souris modèles Publication 31 Juillet http://www.frm.org/informez/info_dons_article.php?id=71

64. Coffin-Lowry Syndrome - Genetics Home Reference Genetic disorder catalog. coffinlowry syndrome. What is coffin-lowry syndrome? Howcommon is coffin-lowry syndrome? The incidence of this condition is unknown. http://ghr.nlm.nih.gov/condition=coffinlowrysyndrome

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Coffin-Lowry syndrome Related Gene(s) Quick links to this topic MedlinePlus Health Information Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog Coffin-Lowry syndrome What is Coffin-Lowry syndrome? Coffin-Lowry syndrome is a condition associated with mental retardation and delayed development, characteristic facial features, and skeletal abnormalities. Males are usually more severely affected than females, but the condition can range from very mild to severe in affected women. How common is Coffin-Lowry syndrome? The incidence of this condition is unknown. What genes are related to Coffin-Lowry syndrome? Mutations in the gene cause Coffin-Lowry syndrome. The RPS6KA3 gene makes a protein that is involved with signaling within cells. Researchers believe that the protein helps control the activity of other genes and may play an important role in the central nervous system. Mutations in the RPS6KA3 disturb the function of the protein, but it is not well understood how mutations lead to the signs and symptoms of Coffin-Lowry syndrome. Some people with the features of Coffin-Lowry syndrome do not have identified mutations in the RPS6KA3 gene. In these cases, the cause is unknown.

65. Coffin-Lowry Syndrome - Sources For This Page - Genetics Home Reference coffinlowry syndrome. Back to condition summary. coffin-lowry syndrome.Sources for this page. These resources supplement the information http://ghr.nlm.nih.gov/condition=coffinlowrysyndrome/show/Sources for this page

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Coffin-Lowry syndrome Back to condition summary Coffin-Lowry syndrome Sources for this page These resources supplement the information in the Genetics Home Reference condition summary on Coffin-Lowry syndrome. Gene Review Hanauer A, Young ID. Coffin-Lowry syndrome: clinical and molecular features. J Med Genet. 2002 Oct;39(10):705-13. Review. ... Jan;10(1):2-5. Last Comprehensive Review: April 2004 Updated: April 19, 2004 Published: May 28, 2004 This is a page from Genetics Home Reference Contact Us Lister Hill National Center for Biomedical Communications U.S. National Library of Medicine ... Accessibility

66. Health Library - groups. coffinlowry syndrome. Self Help Clearinghouse. The coffin-lowrysyndrome Foundation. International network. Founded http://12.42.224.152/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29cof

67. Coffin-Lowry Syndrome Foundation coffinlowry syndrome Foundation. 3045 255th Avenue, SE Sammamish, WA 98075 Conditionscoffin-lowry syndrome. Hours Answered After 530pm, PST http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Coff

68. RPS6KA3 CM010396, 69, tGAATAA, Glu-Term, coffin-lowry syndrome, 1. CM010397, 74, TTAg-TTC,Leu-Phe, coffin-lowry syndrome, 1. CM961263, 75, GGG-GTG, Gly-Val, coffin-lowry syndrome,2. http://archive.uwcm.ac.uk/uwcm/mg/ns/1/365648.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference tGAA-TAA Glu-Term Coffin-Lowry syndrome TTAg-TTC Leu-Phe Coffin-Lowry syndrome GGG-GTG Gly-Val Coffin-Lowry syndrome tGGA-AGA Gly-Arg Coffin-Lowry syndrome gGTT-TTT Val-Phe Coffin-Lowry syndrome tCGA-TGA Arg-Term Coffin-Lowry syndrome cCGA-TGA Arg-Term Coffin-Lowry syndrome tCGG-TGG Arg-Trp Coffin-Lowry syndrome CGT-CCT Arg-Pro Coffin-Lowry syndrome CATc-CAG His-Gln Coffin-Lowry syndrome aGAT-TAT Asp-Tyr Coffin-Lowry syndrome ATA-AAA Ile-Lys Coffin-Lowry syndrome aGAC-AAC Asp-Asn Coffin-Lowry syndrome GCA-GTA Ala-Val Coffin-Lowry syndrome tTCT-GCT Ser-Ala Coffin-Lowry syndrome ACT-ATT Thr-Ile Coffin-Lowry syndrome tCGA-TGA Arg-Term Coffin-Lowry syndrome cCAA-TAA Gln-Term Coffin-Lowry syndrome tCGA-TGA Arg-Term Coffin-Lowry syndrome gCGA-TGA Arg-Term Coffin-Lowry syndrome TTA-TAA Leu-Term Coffin-Lowry syndrome TGG-TAG Trp-Term Coffin-Lowry syndrome tCGG-TGG Arg-Trp Mental retardation, non-specific GGC-GAC Gly-Asp Coffin-Lowry syndrome AAGa-AAC Lys-Asn Coffin-Lowry syndrome CTT-CGT Leu-Arg Coffin-Lowry syndrome aAAC-GAC Asn-Asp Coffin-Lowry syndrome GTA-GGA Val-Gly Coffin-Lowry syndrome ATG-AGG Met-Arg Coffin-Lowry syndrome aCGA-TGA Arg-Term Coffin-Lowry syndrome CAT-CTT His-Leu Coffin-Lowry syndrome AACa-AAA Asn-Lys Coffin-Lowry syndrome tCGA-TGA Arg-Term Coffin-Lowry syndrome aCAG-TAG Gln-Term Coffin-Lowry syndrome aCCA-TCA Pro-Ser Coffin-Lowry syndrome aAAT-GAT Asn-Asp Coffin-Lowry syndrome

69. RPS6KA3 CS982349, 3, as, 2, AG, coffin-lowry syndrome, 1. CS982350, 4, as,-1, GC, coffin-lowry syndrome, 2. CS021177, 4, as, -11, AG, coffin-lowrysyndrome, 3. http://archive.uwcm.ac.uk/uwcm/mg/ns/2/365648.html

Nucleotide substitutions (splicing) Accession Number IVS Donor/ Acceptor Relative location Substitution Phenotype Reference as A-G Coffin-Lowry syndrome as G-C Coffin-Lowry syndrome as A-G Coffin-Lowry syndrome as G-A Coffin-Lowry syndrome ds G-A Coffin-Lowry syndrome ds A-G Coffin-Lowry syndrome as G-T Coffin-Lowry syndrome as A-G Coffin-Lowry syndrome ds G-A Coffin-Lowry syndrome as A-G Coffin-Lowry syndrome as G-A Coffin-Lowry syndrome ds T-C Coffin-Lowry syndrome as A-G Coffin-Lowry syndrome ds G-A Coffin-Lowry syndrome as G-A Coffin-Lowry syndrome References 1 - Jacquot (1998) Am J Hum Genet 2 - Merienne (1998) J Med Genet ... Hum Mutat HGMD

70. Coffin-Lowry (RSK2) coffinlowry (RSK2). Who to Contact Site Index. coffin-lowry syndrome.coffin-lowry syndrome is an X-linked mental retardation condition http://www.ggc.org/rnadiagnostics/Coffin-Lowry.htm

Coffin-Lowry (RSK2) Who to Contact Site Index Coffin-Lowry Syndrome Coffin-Lowry syndrome is an X-linked mental retardation condition caused by mutations in the protein kinase gene, RSK2, localized to Xp22. Males present with moderate to severe developmental delay, coarse facies, large soft hands with short tapering fingers, hypotonia, joint hyperextensibility and skeletal changes. Carrier females have mild mental impairment and short stature, coarse face, prominent lips, soft fleshy hands with thick tapering fingers. Decreased levels of RSK2 activity can be observed in white cells but usually only after establishing a cell line. Sample requirements : RSK2 testing offered in this laboratory uses RNA as the starting nucleic acid for analysis. This requires a peripheral blood sample collected in a Qiagen PAXgene Blood RNA tube. The PAXgene tube contains approximately 7 milliliters of RNA-stabilizing solution. During collection, the tube is designed to stop filling beyond the 2-3 milliliters of blood required for analysis. As these specialized tubes are not normally available in most clinical settings, please contact the RNA Diagnostic Laboratory to request a PAXgene Blood RNA tube with enclosed instructions for drawing. (Please note: for optimal results, the specimen must be collected directly into the PAXgene tube. Blood should not be transferred from other Vacutainer tubes into a PAXgene tube.) Another three to five milliliters of whole blood should also be collected in an EDTA Vacutainer (lavender top).

71. 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 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...

72. Pediatrics: Stimulus-induced Drop Episodes In Coffin-Lowry Syndrome - Brief Arti Print friendly Tell a friend Find subscription deals Stimulusinduced drop episodesin coffin-lowry syndrome - Brief Article Pediatrics, March, 2003 by Gregg B http://articles.findarticles.com/p/articles/mi_m0950/is_3_111/ai_98921572

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); Advanced Search Home Help IN all publications this publication Health Automotive Business Computing Entertainment Health News Reference Sports YOU ARE HERE Articles Pediatrics March, 2003 Content provided in partnership with Print friendly Tell a friend Find subscription deals Stimulus-induced drop episodes in Coffin-Lowry syndrome - Brief Article Pediatrics March, 2003 by Gregg B. Nelson Jin S. Hahn 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. Related Terms Mental retardation / Complications Genetic disorders / Care and treatment Genetic disorders / Complications IN all publications this publication Health Automotive Business Computing Entertainment Health News Reference Sports About Us Advertise with Us Advertiser Log-in Terms of Service

73. Progrès Importants Sur Le Syndrome De Coffin-Lowry, Malad FuturaSciences.com Progrès importants sur le syndrome de - Translate this page Les mécanismes moléculaires du syndrome de coffin-lowry, une maladie génétiquecaractérisée par un retard mental et des anomalies du squelette, ont été http://www.futura-sciences.com/sinformer/n/news3660.php?xml=1

74. Syndrome De Coffin-Lowry : Sites Et Documents Francophones Translate this page syndrome de coffin-lowry. Menu général CISMeF. Arborescence(s) du thesaurusMeSH contenant le mot-clé syndrome de coffin-lowry coffin-lowry syndrome http://www.chu-rouen.fr/ssf/pathol/syndromedecoffin-lowry.html

Syndrome de Coffin-Lowry Menu général CISMeF Arborescence(s) syndrome de Coffin-Lowry Coffin-Lowry Syndrome maladies et malformations congénitales, héréditaires et néonatales système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : guide ressources Coffin-Lowry, syndrome de [Par Dr Gilgenkrantz S. Site éditeur Orphanet mots clés : maladies rares signes et symptômes syndrome de Coffin-Lowry syndrome de Coffin-Lowry ... diagnostic type(s) : * association patients structure recherche texte guide ressources 09 janvier 2004 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

75. Syndrome De Coffin-Lowry : Arborescences MeSH Translate this page syndrome de coffin-lowry arborescences MeSH. Menu général CISMeF.Vous pouvez aussi consulter toutes les arborescences des mots http://www.chu-rouen.fr/navimesh/S/navisyndromedecoffinlowry.html

Syndrome de Coffin-Lowry : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF système nerveux, maladies manifestations neurologiques manifestations neuro-comportementales retard mental ... syndrome de Coffin-Lowry 07 janvier 2004 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

76. Karger Publishers LateOnset Sensorineural Hearing Loss in coffin-lowry syndrome Frank Rosanowski,Ulrich Hoppe, Ute Pröschel, Ulrich Eysholdt Department of Phoniatrics and http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

77. What Is Coffin-Lowry Syndrome? Translate this page What is coffin-lowry syndrome? A syndrome is a set of specific medical signs,characteristics and symptoms. coffin-lowry syndrome (CLS) is somewhat rare. http://clsf.info/FAQ/WhatIsCLS.htm

Español Français What is Coffin-Lowry Syndrome? A syndrome is a set of specific medical signs, characteristics and symptoms. Coffin-Lowry syndrome was originally described independently by Dr. Coffin and associates in 1966, and again by Dr. Lowry and associates in 1971. In 1975, Dr. Temtamy showed that the cases represented a single syndrome. Coffin-Lowry syndrome (CLS) is somewhat rare. It is caused by a 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 the defective gene produces the signs and symptoms is still not entirely clear. ¿Cuál es síndrome del Coffin-Lowry? Un síndrome es un sistema de muestras, de características y de síntomas médicos específicos. El síndrome del Atau'd-Lowry fue descrito originalmente independientemente por el Dr. Coffin y se asocia en 1966, y otra vez por el Dr. Lowry y se asocia en 1971. En 1975, el Dr. Temtamy demostró que los casos representaron un solo síndrome. El síndrome del Atau'd-Lowry (CLS) es algo raro. Es causado por una mutación en la proteína del kinase Rsk-2, un regulador del factor del crecimiento. El gene fue identificado en 1996. El gene está situado en el X-cromosoma; cómo el gene defectuoso produce las muestras y los síntomas todavía no están enteramente claros. Quel est syndrome de Coffin-Lowry?

78. EnableNet - Enablenet.browse.browse Dis Intellectual and Developmental coffinlowry syndrome coffin-lowry syndrome Matching Resources. Records 1-1 of 1 http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2370

79. Ingenta: Article Summary -- MRI And MRS Of Coffin-Lowry Syndrome: A Case Report MRI and MRS of coffin–lowry syndrome A case report NeurologicalResearch 1 April 2003, vol. 25, no. 3, pp. 285286(2) Patlas http://www.ingenta.com/isis/searching/ExpandTOC/ingenta?issue=pubinfobike://mane

80. GeneDx: DNA Diagnostic Tests coffinlowry syndrome. No mutations in the promoter region of the genehave been identified in association with coffin-lowry syndrome. http://www.genedx.com/services/dis_cls.php

Coffin-Lowry Syndrome RKS2 (aka RPS6KA3) Information Sheet Consent Document Coffin, Lowry, Coffin Lowry, Coffin-Lowry, RSK2, RPS6KA3, X-linked, mental retardation, scoliosis, kyphosis, tapering finger, hearing loss

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