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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

Health Library - Coffin-Lowry Syndrome
Advanced Search. coffinlowry syndrome. Self Help Clearinghouse. Thecoffin-lowry syndrome Foundation. International network.
http://www.stjudemedicalcenter.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=s
Health Library - Coffin-Lowry Syndrome
Topics. coffinlowry syndrome. Self Help Clearinghouse. The coffin-lowrysyndrome Foundation. International network. Founded
http://uhcs.universityhealth.org/library/healthguide/selfhelp/topic.asp?hwid=shc
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
FSP Syndromes
coffinlowry syndrome l Ribosomal Protein S6 kinase, 90 kD, Polypeptide3 ; Xp22.2-p22.1; Dominant Genetics Multiple mutation types
http://www.neuro.wustl.edu/neuromuscular/spinal/fsp.html
Health Library - Coffin-Lowry Syndrome
Events, SEARCH. coffinlowry syndrome. Self Help Clearinghouse. The coffin-lowrysyndrome Foundation. International network. Founded
http://www.muskogeehealth.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29c
Children's
Title CLSF News. Author coffinlowry syndrome Foundation. Publication Date10/1/1996. Format Newsletter. Publisher coffin-lowry syndrome Foundation.
http://www.seattlechildrens.org/parents/childcite/SearchResults.asp?KeySubject=2
Children's
Feeding CharcotMarie-Tooth Disease Children CHRMC Clinics Cleft Lip Cleft PalateCleft Lip Cleft Palate Repair coffin-lowry syndrome Cognitive Development
http://www.seattlechildrens.org/parents/childcite/IntermediateResults.asp?KeySub
Health Library - Coffin-Lowry Syndrome
Hometown commitment. coffinlowry syndrome. Self Help Clearinghouse. Thecoffin-lowry syndrome Foundation. International network.
http://www.phoebeputney.com/library/healthguide/SelfHelp/topic.asp?hwid=shc29cof
Health Library - Coffin-Lowry Syndrome
Your Health, Advanced Search. coffinlowry syndrome. Self Help Clearinghouse.The coffin-lowry syndrome Foundation. International network.
http://www.tetonhospital.org/library/healthguide/SelfHelp/topic.asp?hwid=shc29co
Health Library - Coffin-Lowry Syndrome
HealthSource, coffinlowry syndrome. Self Help Clearinghouse. The coffin-lowrysyndrome Foundation. International network. Founded
http://www.memorialhealthsource.com/library/healthguide/SelfHelp/topic.asp?hwid=
Malformations Multiples : Sites Et Documents Francophones
Translate this page guide ressources coffin-lowry, syndrome de Par Dr Gilgenkrantz S. Site éditeurOrphanet base de données sur les maladies rares et les médicaments orphelins
http://www.chu-rouen.fr/ssf/pathol/malformationsmultiples.html

Extractions: Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; bibliographie ; consultations, programmes de recherche ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2000 ; visité le : 23/04/2001].
ChildHealthInfo.com - C Listing Part 4
CoDependents Anonymous Box 33577, Phoenix, AZ 85067-3577. coffin-lowry syndromecoffin-lowry syndrome Foundation 3045 255th Ave SE Sammamish, WA 98075.
http://www.childhealthinfo.com/cindexlist4.htm

Extractions: C CHRON'S DISEASE (See COLITIS) CHRONIC FATIGUE SYNDROME Also called chronic fatigue immune dysfunction syndrome (CFIDS). This ill-defined condition has no apparent cause although the most accepted cause is a chronic infection with the Epstein-Barr virus, the one responsible for Infectious Mononucleosis. For information about this condition: Books: CHRONIC ILLNESS (See also HANDICAPPED CHILDREN) Support Groups: Books: Taking Charge: Overcoming the Challenges of Long-Term Illness by Susan K. Golant (Times Books)
Molecular Pathology
André Hanauer coffinlowry syndrome and X-linked mental retardation.Michel Koenig Friedreich's ataxia and other recessive ataxias.
http://www-igbmc.u-strasbg.fr/Departments/Dep_III/Dep_III.html

Extractions: Exploration of chromosomal aberrations and their transcriptional consequences in solids tumors by molecular cytogenetics and DNA arrays. - Molecular genetics of monogenic diseases: gene identification, mutation analysis, study of gene function and pathological mecanisms, construction and study of mouse and cellular disease models.
Syndrome Und Symptome
Translate this page Linktipp XYY-Männer. coffin-lowry - Syndrom. das/die coffin-lowry-Gen(e)ergab eine Lokalisation auf dem kurzen distalen Arm des X-Chromosoms.
http://www.schnecken-haus.de/syndrome_und_symptome.htm

Extractions: Fehlverteilung gonosomaler Chromosomen Die Geschlechtschromosomen entsprechen nicht immer dem phänotypischen männlichen oder weiblichen Geschlechtsmerkmalen. Die gonosomalen Chromosomenstörungen führen im Vergleich zu den autosomalen Chromosomenstörungen nicht zu schwerwiegenden Erkrankungen.Fehlbildungen liegen in der Regel nicht vor und schwere geistige Entwicklungsverzögerungen sind seltene Ausnahmen. 45, X: Turner-Syndrom Häufigkeit ca. 1:2500 weibliche Geburten. Beim Ullrich-Turner-Syndrom handelt es sich um eine Fehlverteilung oder strukturelle Veränderung der Geschlechtschromosomen, von der nur Mädchen und Frauen betroffen sind (Karyotyp 45,X). Es fehlt entweder durchgehend oder nur in einem Teil aller Körperzellen (Mosaikform) eines der beiden Geschlechtschromosomen, oder aber das zweite X-Chromosom ist strukturell verändert. Ein großer Teil der Fälle von Turner-Syndrom (40%)sind Mosaike; Etwa zehn Prozent der Fälle sind durch eine strukturelle Aberration des X-Chromosoms
Health Library - Coffin-Lowry Syndrome
My Personal Health Site Search Advanced Search. coffinlowry syndrome. SelfHelp Clearinghouse. The coffin-lowry syndrome Foundation.
http://www.covenanthealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29c
XLMR - Hypotonic Facies Syndrome
Differential Diagnosis coffin lowry syndrome, an X - linked mental retardationsyndrome caused by mutations in the RSK2 gene, may be confused with X - linked
http://ibis-birthdefects.org/start/xlinkeds.htm

Extractions: X - linked mental retardation hypotonic facies ( XLMR - hypotonic facies ) syndrome is characterized by distinctive craniofacial features, genital anomalies, and severe developmental delays with hypotonia and mental retardation. Craniofacial abnormalities include small head circumference, telecanthus or ocular hypertelorism, small nose, tented upper lip, and prominent or everted lower lip with coarsening of the facial features over time. Although all patients have a normal 46,XY karyotype, genital anomalies range from hypospadias and undescended testicles to severe hypospadias and ambiguous genitalia to normal - appearing female genitalia. Global developmental delays are evident in infancy and some affected individuals never walk independently or develop significant speech.
II SPECIFIC DISABILITIES
WideSmiles! Cleft Lip and Palate Reource. coffinlowry syndrome. coffin-lowrysyndrome Foundation. CRANIOFACIAL DISORDERS. Aboutface-USA. CRI DU CHAT syndrome.
http://www.pourhouse.com/ramp/ramp2.htm
Molecular Pathology: Inherited Diseases
coffinlowry syndrome. Background A rare X-linked genetic disorder causing mentalretardation and characteristic developmental/radiographic abnormalities.
http://www.uphs.upenn.edu/path/LabServices/MOLEC-DIAG-INHERITED.HTML

Extractions: Inherited Diseases (Genetic Disorders) Benefits of Molecular Tests for Genetic Disorders * Definitive or improved risk assessment for families affected by a genetic disorder. * Relatives from families with a history of a genetic disorder may learn whether or not they carry a mutant gene, or learn their likelihood of having the disease. * Identification of risk for individuals without a family history of genetics disorders (population screening). * If desired, prenatal diagnosis can be performed for couples at high risk. Apolipoprotein E testing (hypercholesterolemia, Alzheimer's Disease) Background: Individuals homozygous for the e4 allele of apolipoprotein E carry an increased risk of atherosclerotic vascular disease, as well as for adult-onset Alzheimer's disease. Homozygosity for the e2 allele is associated with Type III hyperlipoproteinemia. Assay: Intragenic polymorphism analysis Utility: To assist confirmation of Type III hyperlipoproteinemia diagnosis, diagnosis/risk for hypercholesterolemia, relative risk of adult onset Alzheimer's disease
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Pleiotrophy in coffinlowry syndrome Drop Attacks, Staphyloma, HearingDeficit and Premature Loss of Primary Teeth. Yu-Ming Chuang
http://www.neuro.org.tw/mag3-1.htm

Extractions: ²Ä¤Q¤@¨÷²Ä¤@´ÁºKn The Diagnosis and Management of Multiple Sclerosis: An MRI Perspective Donald W. Paty Division of Neurology, University of British Columbia, Vancouver Hospital, Vancouver, B.C. Canada SUMMARY Decompressive Craniectomy for Space-occupying Middle Cerebral Artery Infarction: Analysis of 17 Cases Jinn-Rung Kuo, Chung-Ching Chio, Che-Chuan Wang, Hung-Jung Lin, Chao-Hung Yeh, Bing-Sang Wong, Chen-Hsing Kao Department of Neurosurgery, Chi-Mei Medical Hospital, Tainan, Taiwan Abstract- Space-occupying unilateral infarction involving the middle cerebral artery (MCA) can be associated with severe brain swelling and death secondary to herniation. The prognosis of these patients is very poor and the mortality rate may be as high as 80% when conservative treated. This study confirms the lifesaving nature of decompressive craniectomy in patients with space-occupying MCA infarction. It reduce s d mortality rate, improve
Nervous System Diseases
Brachydactyly Med. Coll. of Wisconsin; coffinlowry syndrome; CLS; EPILEPSY,FEMALE RESTRICTED, WITH MENTAL RETARDATION; EFMR; FG syndrome;
http://www.ohsu.edu/cliniweb/C10/C10.html

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