61. 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

62. 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

63. 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

64. 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

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 Infantile onset : Alsin; 2q33 X-linked : Proteolipid protein; Xq22 Other Familial Spastic Paraplegia +... Ataxia CNS Ocular PNS ... Systemic Disorders Leukodystrophies Adrenomyeloneuropathy : ALDP; Xq28 Adult-onset Krabbe : GalC; 14q31 MLD : Arylsulfatase A; 22q13 Other spinal cord syndromes Syndromes AAA syndrome : Aladin; 12q13 Adrenomyeloneuropathy : ALDP; Xq28 Alexander : GFAP; 17q21 Alzheimer's : Presenilin 1; 14q24 Arnold-Chiari Malformation Cavanagh's Cerebral palsy-Symmetrical Cerebrotendinous xanthomatosis : Cytochrome 450; 2q33 Charlevoix-Saguenay : Sacsin; 13q11 DOPA-responsive dystonias DRPLA : DRPLA protein; 12p13 Episodic ataxia Evans Fitzsimmons syndrome Friedreich ataxia : FRDA; 9q13 Hereditary Motor Syndromes HHH syndrome HMSN 5 : ARX; Xp22 Infections: HTLV-1 Krabbe : GalC; 14q31 L1 cell adhesion molecule (MASA) Lawrence-Moon Leukodystrophy: Adult-onset Mass lesions Mast syndrome Mental retardation Rett syndrome: Small testes : ATRX; Xq13

65. 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

66. 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

67. 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

68. 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

69. 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

70. 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=

71. 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

Malformations Multiples Menu général CISMeF Voir aussi retard mental Arborescence(s) malformations multiples abnormalities, multiples maladies et malformations congénitales, héréditaires et néonatales 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 : chromosome X maladies génétiques congénitales maladies génétiques congénitales diagnostic ... syndrome type(s) : guide ressources structure recherche texte association patients ... Roberts, syndrome de - synonyme : SC phocomélie [Par Dr Cormier-Daire V. 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].

72. 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

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: CFIDS Association of America, Box 220398, Charlotte, NC 28222-0398 Books: Hope and Help for Chronic Fatigue Syndrome by Karin Feiden (Prentice-Hall), 1990, Learning to Live With Chronic Fatigue Syndrome by Edmund Blair Bolles (Lynn Sonberg), 1990, $ 3.99 by Hillary Johnson. 800 pp. 1995, (Crown) $30. First-hand knowledge; based on interviews over nine years; events documented in the first decade of CFS in the U.S. and around the world. CHRONIC ILLNESS (See also HANDICAPPED CHILDREN) Support Groups: National Family Caregivers Association 9223 Longbranch Pkwy. Siver Springs, MD 20901 Founded by a wonderful woman whose husband suffers from the slow form of Muscular Sclerosis. Offers support and general help in coping with chronic incurable illnesses. Books: Taking Charge: Overcoming the Challenges of Long-Term Illness by Susan K. Golant (Times Books)

73. 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

Department of Molecular Pathology Coordinator: Marie-Christine Rio Deputy Coordinator: Michel Koenig Philippe Kastner and Susan Chan Hematopoiesis in the mouse. Fabienne Perrin-Schmitt Genotype/phenotype correlations in cranio-facial dismorphology: Molecular studies of human diseases and molecular and genetic studies in mutant mouse-model. Marie-Christine Rio Molecular and cellular biology of breast cancer. Bohdan Wasylyk Molecular and cellular biology of cancer: Head and neck and prostate cancers. HUMAN MOLECULAR GENETICS Jean-Louis Mandel Pathological mechanisms of neurological monogenic diseases. Coffin-Lowry syndrome and X-linked mental retardation. Michel Koenig Friedreich's ataxia and other recessive ataxias. Stanislas DuManoir 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. Diseases studied: Polyglutamine expansion diseases (Huntington, SCA 3 and SCA 7), Fragile X syndrome, Coffin-Lowry syndrome, Adrenoleukodystrophy, Myotubular Myopathy, Friedreich ataxia and other recessive ataxias, X-linked hypophosphatemic rickets.

74. 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

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

75. 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

76. 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

Tips for printing X - Linked Mental Retardation Hypotonic Facies or Alpha Thalassemia / Mental Retardation Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Support Groups Professional Associations Key Information Sources Topics include Title and ATRX S. Special Resources XLMR - Hypotonic Facies Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals Under Development [P] X - linked Mental Retardation Hypotonic Facies Syndrome or Alpha - Thalassemia Mental Retardation Syndrome ATRX Syndrome Alpha Thalassemia / Mental Retardation by Roger E Stevenson, MD June 19, 2000 from GENEClinics 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.

77. 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

II: SPECIFIC DISABILITIES ADRENAL DISORDERS NATIONAL ADRENAL DISEASES FOUNDATION AGENESIS OF THE CORPUS CALLOSUM ACC NETWORK AICARDI SYNDROME AICARDI SYNDROME NEWSLETTER NATIONAL ORGANIZATION FOR ALBINISM AND HYPOPIGMENTATION ALOPECIA AREATA NATIONAL ALOPECIA AREATA FOUNDATION ANEMIA, FANCONI FANCONI ANEMIA RESEARCH FUND/SUPPORT GROUP ANGELMAN SYNDROME ANGELMAN SYNDROME FOUNDATION ARTHROGRYPOSIS MULTIPLEX CONGENITA CAST:CANADIAN ARTHROGRYPOSIS SUPPORT TEAM AVENUES: NATIONAL SUPPORT GROUP FOR MULTIPLEX CONGENITA ATTENTION DEFICIT DISORDER CHADD - CANADA EAR FOUNDATION BECKWITH-WIEDEMANN SYNDROME BECKWITH-WIEDEMANN SUPPORT NETWORK BEREAVEMENT SUPPORT PEN-PARENTS BILIARY ATRESIA BOWEL DYSFUNCTION International Foundation for Functional Gastrointestinal Disorders BRAIN TUMORS American Brain Tumor Association Brain Tumor Foundation of Canada CANCER Candlelighters Childhood Cancer Foundation CARNITINE DEFICIENCY SYNDROME Assistance for Babies and Children with Carnitine Deficiency CARPENTER SYNDROME Carpenter Syndrome Network CELIAC SPRUE American Celiac Society CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL

78. 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

Inherited Diseases (Genetic Disorders) Benefits of Molecular Tests for Genetic Disorders Neurofibromatosis, type 1 (NF-1) Apolipoprotein E testing Spinal and bulbar muscular atrophy, X-linked form ... Tests Under Development 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

79. ¥Ø¿ýºK­n10-2 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

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

80. 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

Nervous System Diseases Back to previous level Central Nervous System Diseases [9 more specific term/s, 26 more link/s] Search PUBMED for Central Nervous System Diseases: All Review Therapy Diagnosis ... Mental Retardation [28 more specific term/s, 52 more link/s] Search PUBMED for Mental Retardation: All Review Therapy Diagnosis ... Nerve Degeneration [2 more specific term/s, more link/s] Search PUBMED for Nerve Degeneration: All Review Therapy Diagnosis ... Nervous System Abnormalities [4 more specific term/s, 13 more link/s] Search PUBMED for Nervous System Abnormalities: All Review Therapy Diagnosis ... Nervous System Neoplasms [2 more specific term/s, 5 more link/s] Search PUBMED for Nervous System Neoplasms: All Review Therapy Diagnosis ... Neurologic Manifestations [28 more specific term/s, 111 more link/s] Search PUBMED for Neurologic Manifestations: All Review Therapy Diagnosis ... Neuromuscular Diseases [12 more specific term/s, 22 more link/s] Search PUBMED for Neuromuscular Diseases: All Review Therapy Diagnosis ... Peripheral Nervous System Diseases [17 more specific term/s, 28 more link/s] Search PUBMED for Peripheral Nervous System Diseases: All Review Therapy Diagnosis ... Histology of Peripheral Nervous Tissue: Vanderbilt U.

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