Geometry.Net - Health_Conditions: Coffin Lowry Syndrome


Home - Health_Conditions - Coffin Lowry Syndrome

e99.com Bookstore

Images

Newsgroups

21-40 of 100 Back | 1 | 2 | 3 | 4 | 5 | Next 20

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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

Coffin Lowry
coffin lowry syndrome. 4 Patient Support Information coffin lowry syndromefactsheet National Institute for Neurological Disorders and Stroke
http://www.ion.ucl.ac.uk/library/patient/coffin.htm
Website Directory - Coffin Lowry Syndrome
National Library of Medicine CoffinLowry Syndrome (CLS) NINDS Coffin LowrySyndrome Information sheet compiled by the National Institute of
http://www.shapeupamerica.com/search/directory/Conditions_and_Diseases/Genetic_D
ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/
NINDS coffin lowry syndrome Information sheet compiled by the National National Library of Medicine Coffin-Lowry Syndrome (CLS) - A table showing
http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

Extractions: Text Size A A A Front Page ... Genetic Disorders : Coffin Lowry Syndrome Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF). full story Big Differences In Duplicated DNA Distinguish Chimp And Human Genomes (September 2, 2005)
Developmental Psychiatry
coffin lowry syndrome A FAMILY STUDY OF BEHAVIOURAL CHARACTERISTICS. CoffinLowrysyndrome is an X-linked mental handicap (learning disability) syndrome
http://www.psychiatry.cam.ac.uk/dev/projects_learning.htm
Neuroguide.com - Human Neurological Diseases
coffin lowry syndrome. * Coffin Lowry Information (NINDS) Regional Pain Syndrome,Chronic Fatigue Syndrome, Clinical Trials Lists, coffin lowry syndrome
http://www.neuroguide.com/cgi-bin/pdistoc.pl?file=CoffinLowrySyndrome
Welcome
Information about the organization as well as CLS. Includes FAQs, news, links,parent and foundation contact details.
http://clsfoundation.tripod.com/
Coffin-Lowry Syndrome (CLS)
A table showing the synonyms, a summary and major features.
http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome238.html

Extractions: Syndrome Coffin-Lowry syndrome (CLS) Synonyms Coffin syndrome 2 Coffin-Siris-Wegienka syndrome soft hands syndrome Summary Mental and somatic retardation in association with characteristic facies, large soft hands, and various bone abnormalities. A variant syndrome consists of growth and mental retardation, nail hypoplasia, hirsutism, and coarse facies with a large mouth, macroglossia, and bushy eyebrows. Major Features Head and neck: Midfacial hypoplasia, prominent forehead, flat occiput, prominent supraorbital ridges, and mandibular prognathism with relative maxillary retrognathia, in association with ear, nose and eye anomalies give the face a characteristic appearance. Thickened calvaria, large anterior fontanel, and delayed suture closing. Ears: Prominent pinnae. Eyes: Hypertelorism, downslanting palpebral fissures, and blepharoptosis. Nose: Large nose with flared alae and broad base and elongated philtrum. Mouth and oral structures: Large mouth, thick lips, open pouting mouth, and furrowed tongue. Malocclusion, absent or abnormal permanent incisors, and frequent periodontal disease with tooth loss.
Coffin-Lowry, Syndrome De
Fiche d'information pratique sur le syndrome de coffinlowry, description d©taill©e de la maladie, signes cliniques, autre(s) site(s) internet, type(s) de consultations adapt©es, laboratoire(s) de diagnostic, projet(s) de recherche en cours, r©seaux de professionnels, association(s) de patients.
http://www.orpha.net/static/FR/coffinlowry.html
Coffin-Lowry Syndrome Foundation Welcome Page
The coffinlowry syndrome Foundation Web Site has moved. The new location ishttp//www.clsf.info. Thank you for your patience.
http://clsfoundation.tripod.com/Welcome.htm

Extractions: setAdGroup('67.18.104.18'); var cm_role = "live" var cm_host = "tripod.lycos.com" var cm_taxid = "/memberembedded" Search: Lycos Tripod Free Games Share This Page Report Abuse Edit your Site ... Next The Coffin-Lowry Syndrome Foundation Web Site has moved. The new location is http://www.clsf.info Thank you for your patience.
Introduction: Coffin-Lowry Syndrome - WrongDiagnosis.com
Introduction to coffinlowry syndrome as a medical condition including symptoms,diagnosis, misdiagnosis, treatment, prevention, and prognosis.
http://www.wrongdiagnosis.com/c/coffin_lowry_syndrome/intro.htm

Extractions: Coffin-Lowry syndrome: Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, mental retardation, short stature, and hypotonia. Researching symptoms of Coffin-Lowry syndrome: Further information about the symptoms of Coffin-Lowry syndrome is available including a list of symptoms of Coffin-Lowry syndrome , or alternatively return to research other symptoms in the symptom center Treatments for Coffin-Lowry syndrome: Various information is available about treatments available for Coffin-Lowry syndrome , or research treatments for other diseases.
Symptoms Of Coffin-Lowry Syndrome - WrongDiagnosis.com
Symptoms of coffinlowry syndrome including signs, symptoms, incubation period,duration, and correct diagnosis.
http://www.wrongdiagnosis.com/c/coffin_lowry_syndrome/symptoms.htm

Extractions: Feedback General information about symptoms of Coffin-Lowry syndrome: The symptom information on this page attempts to provide a list of some possible symptoms of Coffin-Lowry syndrome. This symptom information has been gathered from various sources, may not be fully accurate, and may not be the full list of symptoms of Coffin-Lowry syndrome. Furthermore, symptoms of Coffin-Lowry syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of symptoms and whether they are indeed symptoms of Coffin-Lowry syndrome. List of symptoms of Coffin-Lowry syndrome: The list of symptoms mentioned in various sources for Coffin-Lowry syndrome includes: Craniofacial abnormalities Underdeveloped upper jaw bone (maxillary hypoplasia) Abnormally prominent brow Downslanting eyelid folds (palpebral fissures) ... Short, tapered fingers
Coffin-Lowry Syndrome / Family Village Library
Web Sites * Search Google for coffinlowry syndrome . Who to Contact. coffin-lowrysyndrome Foundation (CLSF) Mary Hoffman 3045 255th Avenue SE
http://www.familyvillage.wisc.edu/lib_cls.htm

Extractions: Website: http://www.clsf.info/ CLSF serves as a clearinghouse for information on CLS and as a general forum for exchanging experiences, advice and information with other CLS families. The Foundation 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 aimed at finding the cause of CLS in order to improve methods of social integration of CLS individuals. CLS has a parent-to-parent matching program and will match families geographically or based on similar concerns such as scoliosis or other health problems. CLS Foundation
BIBLIOGRAPHIE
Cataplexy and muscle ultrasound abnormalities in coffinlowry syndrome. The coffin-lowry syndrome Experience from four centres.
http://alsace.u-strasbg.fr/chimbio/diag/coffin/biblio/

Extractions: laboratoire du Professeur Jean-Louis MANDEL du Professeur Charles SCHWARTZ du " GREENWOOD GENETICS CENTER " GREENWOOD USA BIBLIOGRAPHIE ID. Publication Abstract Abidi F, Jacquot S, Lassiter C, Trivier E, Hanauer A, Schwartz CE. Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS). Eur. J. Hum. Genet. (1999) 7: 20-26. Biancalana V., Briard ML., David A., Gilgenkrantz S., Kaplan J., Mathieu M., Piussan Ch., Poncin J., Shinzel A., Oudet C., Hanauer A Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. Am. J. Hum Gen. (1992) 50:981-987. Biancalana V, Trivier E, Weber C, Weissenbach J, Rowe PSN, O'Riordan JLH, Partington MW, Heyberger S, Oudet C, Hanauer A. Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene. Genomics (1994) 22:617-625. Bird H, Collins AL, Oley C, Lindsay S. Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22. Am J Med Genet (1995) 59:512-516 SEQ Bjorbaek C, Vik TA, Echwald SM, Yang PY, Vestergaard H, Wang JP, Webb GC, Richmond K, Hansen T, Erikson RL, Gabor Miklos GL, Cohen PTW, Pederson O. Cloning of a human insulin-stimulated protein kinase (ISPK-1) gene and analysis of coding regions and mRNA levels of the ISPK-1 and the protein phosphatase-1 genes in muscle from NIDDM patients. Diabetes (1995) 44; 90-97.
Coffin-Lowry Syndrome
coffinlowry syndrome information and resources, genetic information, support groups.
http://www.kumc.edu/gec/support/coffin_l.html
Coffin-Lowry Syndrome - Genetics Home Reference
Where can I find additional information about coffinlowry syndrome? coffin-lowry syndrome is a condition associated with mental retardation and delayed
http://ghr.nlm.nih.gov/condition=coffinlowrysyndrome

Extractions: Home What's New Browse Handbook ... Search Coffin-Lowry syndrome On this page: Coffin-Lowry syndrome is a condition associated with mental retardation and delayed development, short stature, and skeletal abnormalities. Distinctive facial features (including wide-spaced and downward-slanting eyes, a short nose with a wide tip, and full lips) and soft hands with short, tapered fingers are also characteristic of this condition. Males are usually more severely affected than females, but the signs and symptoms of Coffin-Lowry syndrome range from very mild to severe in affected women. How common is Coffin-Lowry syndrome?
Entrez PubMed
coffinlowry syndrome (CLS) is a rare but well-documented X-linked disordercharacterized by small size, developmental delay/mental retardation,
http://ghr.nlm.nih.gov/condition=coffinlowrysyndrome/show/PubMed

Extractions: My NCBI [Sign In] [Register] All Databases ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes Conserved Domains 3D Domains Gene Genome Project GENSAT GEO Profiles GEO DataSets HomoloGene Journals MeSH NCBI Web Site NLM Catalog OMIA OMIM PMC PopSet Probe PubChem BioAssay PubChem Compound PubChem Substance SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard Details About Entrez PubMed Central Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 Related Articles Cited Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Gene (GeneRIF) Links Genome Links Project Links GENSAT Links GEO Profile Links HomoloGene Links Nucleotide Links OMIA Links OMIM Links BioAssay Links Compound Links Compound via MeSH Substance Links Substance via MeSH PMC Links Cited in PMC PopSet Links Probe Links Protein Links SNP Links Structure Links UniGene Links UniSTS Links Show Sort by Author Journal Pub Date Send to Text File Clipboard E-mail Order All: 24 Review: 7 Items 1 - 20 of 24 of 2 Next Facher JJ, Regier EJ, Jacobs GH, Siwik E, Delaunoy JP, Robin NH.
WebMD With AOL Health - Coffin-Lowry Syndrome
International network. Founded 1991. Serves as a clearinghouse for informationon coffin - lowry syndrome.
http://aolsvc.health.webmd.aol.com/hw/raising_a_family/shc29cof.asp

Extractions: 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.
CLS - Coffin-Lowry Syndrome
Mutations in the kinase Rsk2 associated with coffin-lowry syndrome. We haveidentified a coffin-lowry syndrome pedigree where the disorder is
http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/87263.html
Cognitive Impairment In Coffin-Lowry Syndrome Correlates With Reduced RSK2 Activ
Cognitive impairment in coffinlowry syndrome correlates with reduced RSK2 Patients with the X-linked disorder coffin-lowry syndrome ( CLS) have
http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/8697455.html

Extractions: Cognitive impairment in Coffin-Lowry syndrome correlates with reduced activation.BACKGROUND: Gene expression and protein synthesis, mediated by the transcription factor CREB cAMP response element binding protein ), play an important role in learning and memory in several species, including Drosophila, snails, and mice.
Coffin-Lowry Syndrome (www.whonamedit.com)
coffinlowry syndrome A familial syndrome characterised by dwarfism and severemental retardation, muscle weakness, unusual prominence of the breastbone,
http://www.whonamedit.com/synd.cfm/3425.html

Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

21-40 of 100 Back | 1 | 2 | 3 | 4 | 5 | Next 20