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Silver-russell Syndrome:     more detail

Silver-Russell Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by Icon Health Publications, 2004-06-09 Growth Disorders: Achondroplasia, Dwarfism, Acromegaly, Primordial Dwarfism, Psychosocial Short Stature, Midgetville, Silver-russell Syndrome Russell-Silver syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Paul Johnson, 2005

lists with details

61. Investigator Details
    growth and development and in particular in the silverrussell syndrome. regions of chromosome 7 in five mUPD7 silver-russell syndrome probands.  
    http://www.crn.ucl.ac.uk/cgi-bin/crn_investigator_details?Menu=1&PerID=31&Org=Al

62. Dwarfism - Short Stature
    RussellSilver syndrome silver-russell syndrome, Silver syndrome, Russellsyndrome, Jeune Syndrome (Asphyxiating Thoracic Dysplasia, ATD,  
    http://www.kumc.edu/gec/support/skeldysp.html

63. Search By Disease
    Silver Russell syndrome (SRS). 117, SilverRussel Syndrome (RSS). 118,Silver-Russell dwarfism. 119, silver-russell syndrome  
    http://www.eddnal.com/directory/disease.php?letter=S&page=8

64. Search By Disease
    silverrussell syndrome; SRS. 122, silver-russell syndrome; SRS. 123,Simpson dysmorphia syndrome (SDYS). 124, Simpson Golabi Behmel syndrome  
    http://www.eddnal.com/directory/disease.php?letter=S&page=9

65. Maternal UPD 7, Silver-Russell Syndrome, And Imprinted Candidate Genes
    silverrussell syndrome (SRS) is characterised by pre- and postnatal growthrestriction and additional dysmorphic features including body asymmetry and  
    http://www.nichd.nih.gov/cdbpm/pp/fetalGrowth/monk.htm
    
    Extractions: Imperial College London, United Kingdom Silver-Russell syndrome (SRS) is characterised by pre- and postnatal growth restriction and additional dysmorphic features including body asymmetry and fifth finger clindactyly. The syndrome is genetically heterogeneous, with a number of chromosomes implicated. However, maternal UPD for chromosome 7 (mUPD7) has been demonstrated in up to 10 percent of cases. This observation suggests that altered imprinted gene expression is involved in the pathogenesis of the syndrome. Overexpression of a maternally transcribed, imprinted gene with growth suppressing activity, or the lack of paternally imprinted gene expression could account for the phenotype. Recent molecular mapping of SRS patients with subtle chromosome 7 disruptions has revealed two candidate gene regions, both of which harbour imprinted genes. The 7p11.2-p13 region is defined by three unrelated SRS patients with maternally inherited duplications. This region contains the solitary imprinted gene A single SRS patient with segmental mUPD 7q32-qter defines the second candidate region. Within this interval maps the

66. The MAGIC Foundation
    Syndrome RSS in the US and silverrussell syndrome SRS in Europe.One interesting and important aspect of the Russell-Silver syndrome is its  
    http://www.magicfoundation.org/www/docs/112/russell_silver_syndrome.html
    
    Extractions: Note: If you have difficulty understanding terms in this (or any other document) please refer to the More Information- section (lower left table) for Dictionary terms. If we have missed some terms, which you would find helpful in the dictionary, please let us know and we will add a definition for them. Also, on the left side tables you will see other important articles and information relating to this issue. Feel free to look at them for more help. Thank you. In 1953 and 1954, Drs. Silver and Russell independently described groups of small-for-gestational-age [SGA] children whose pregnancies had been complicated by intrauterine growth retardation [IUGR]. Their common findings were short stature without catch-up growth, normal head size for age, a distinctive triangular face, low-set ears and incurving fifth fingers. These two groups of patients are now considered to have had variations of the same disorder that we now call Russell-Silver Syndrome [RSS] in the U.S. and Silver-Russell Syndrome [SRS] in Europe. One interesting and important aspect of the Russell-Silver syndrome is its variation in phenotype. In this context, a phenotype is all the physical characteristics and abnormalities found in an individual patient that are attributed specifically to RSS. Some individuals with RSS have many traits, thus a severe phenotype, while others have very few traits, thus a mild phenotype.

67. References
    growth and pubertal progression in the silverrussell syndrome. small forgestational age or with silver-russell syndrome results from KIGS (Kabi  
    http://www.medscape.com/content/2003/00/46/52/465282/465282_ref.html

68. Identification Of The Meg1/Grb10 Imprinted Gene On Mouse Proximal Chromosome 11,
    In the human, it has been reported that the maternal uniparental disomy 7 isresponsible for the silverrussell syndrome ( SRS) whose effects include pre-  
    http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/1331058.html
    
    Extractions: Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene.In a systematic screen for maternally expressed imprinted genes using subtraction hybridization with androgenetic and normal fertilized mouse embryos, seven candidate maternally expressed genes (Megs) have been isolated, including the and p57(Kip2) genes that are known to be maternally expressed.

69. The Imprinted Region On Human Chromosome 7q32 Extends To The Carboxypeptidase A
    A gene cluster an imprinted candidate for silverrussell syndrome. associated with silver-russell syndrome (SRS) as 7-10% of patients have mUPD(7).  
    http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/9854668.html
    
    Extractions: The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome .Imprinted gene(s) on human chromosome 7q32-qter have been postulated to be involved in intrauterine growth restriction associated with Silver-Russell syndrome (SRS) as 7-10% of patients have mUPD(7).

70. Russell-Silver Syndrome
    silverrussell syndrome; Silver syndrome. Treatment. There is no specifictreatment for Russell-Silver syndrome. Symptoms are treated as necessary.  
    http://adam.about.com/encyclopedia/001209trt.htm
    
    Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zCMt='a00' About Healthcare Center Healthcare Center Essentials ... Surgeries and Procedures zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Allergies Arthritis Asthma Breast Cancer ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb); Search Healthcare Center ENCYCLOPEDIA INDEX Injury Disease Nutrition Poison ... Z Overview Symptoms Treatment Prevention Alternative Names: Silver-Russell syndrome; Silver syndrome Treatment: There is no specific treatment for Russell-Silver syndrome. Symptoms are treated as necessary. Sometimes growth hormone replacement is recommended if a growth hormone deficiency is discovered. This has had varying results. Supportive treatment for discrepancy of leg length may prevent problems. Support Groups: Additional resources are available from Little People of America (888-572-2001) and MAGIC Foundation for Children's Growth (800-362-4423). Expectations (prognosis): As the child ages, many will improve in growth and appearance. There is normal intelligence.

71. Russell-Silver Syndrome
    silverrussell syndrome; Silver syndrome. Symptoms. slow growth before birth short stature throughout childhood and at final height; cafe-au-lait (coffee  
    http://adam.about.com/encyclopedia/001209sym.htm
    
    Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zCMt='a00' About Healthcare Center Healthcare Center Essentials ... Surgeries and Procedures zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Allergies Arthritis Asthma Breast Cancer ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb); Search Healthcare Center ENCYCLOPEDIA INDEX Injury Disease Nutrition Poison ... Z Overview Symptoms Treatment Prevention Alternative Names: Silver-Russell syndrome; Silver syndrome Symptoms: Signs and tests: A physical examination may show: Tests include: A glucose tolerance test may show episodes of low blood sugar when fasting.

72. Clinical Dysmorphology - UserLogin
    The initial diagnosis was silverrussell syndrome at age 1 year. Three-generationdominant transmission of the silver-russell syndrome.  
    http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200110000-00002.htm

73. C POLYCHRONAKOS And A KUKUVITIS: Imprinting In Endocrinopathies (European Journa
    Maternal uniparental disomy 7 in silverrussell syndrome. Silver-Russellsyndrome a dissection of the genetic aetiology and candidate chromosomal  
    http://www.eje.org/eje/147/0561/eje1470561.htm

74. Russell-Silver Syndrome
    Alternative Names. silverrussell syndrome; Silver syndrome Children withRussell-Silver syndrome are born small and generally achieve less than 5 feet  
    http://www.shands.org/health/information/article/001209.htm
    
    Extractions: Causes, incidence, and risk factors: Genetic problems are thought to cause this syndrome, although the specific gene(s) remain to be discovered. The pattern of inheritance has not been determined, but in most cases it seems to occur without any family history of the condition. Children with Russell-Silver syndrome are born small and generally achieve less than 5 feet at adult height. Side-to-side asymmetry is fairly common. For example, a left body part may be larger than the right counterpart. This asymmetry may occur anywhere including the face. Other characteristics include excessive sweating , a small triangular face that makes the skull look large by comparison, inward curving 5th fingers, and colored spots on the skin called cafe-au-lait spots

75. Portal Toolkit Invalid Site URL
    Molecular studies in 37 silverrussell syndrome patients frequency and etiology of Maternal uniparental disomy 7 in silver-russell syndrome.  
    http://ppv.ovid.com/pt/re/adcn/fulltext.00042223-200201000-00003.htm

76. •¶Œ£ˆê——
    No evidence of PEG1/MEST gene mutations in silverrussell syndrome patients.Am J Med Genet. 2001 Dec 1;104(3)225-231. Ono R, Kobayashi S, Wagatsuma H,  
    http://www.tmd.ac.jp/mri/epgn/list.html

77. Russell-Silver Syndrome
    Alternative Names. silverrussell syndrome; Silver syndrome. Causes. Genetic problemsare thought to cause this syndrome, although the specific gene(s)  
    http://www.ehendrick.org/healthy/001209.htm
    
    Extractions: Injury Disease Nutrition Poison ... Prevention Rusell-Silver syndrome is a congenital disease (present at birth) characterized by short stature and, frequently, asymmetry in the size of the two halves or other parts of the body. Silver-Russell syndrome; Silver syndrome Genetic problems are thought to cause this syndrome, although the specific gene(s) remain to be discovered. The pattern of inheritance has not been determined, but in most cases it seems to occur without any family history of the condition. Children with Russell-Silver syndrome are born small and generally achieve less than 5 feet at adult height. Side-to-side asymmetry is fairly common. For example, a left body part may be larger than the right counterpart. This asymmetry may occur anywhere including the face. Other characteristics include excessive sweating , a small triangular face that makes the skull look large by comparison, inward curving 5th fingers, and colored spots on the skin called cafe-au-lait spots Review Date: 1/30/2003

78. Disease - Russell-Silver Syndrome - Detroit, Michigan
    silverrussell syndrome; Silver syndrome. Causes And Risk. Genetic problems arethought to cause this syndrome, although the specific gene(s) remain to be  
    http://www.henryfordhealth.org/12233.cfm
    
    Extractions: 3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia Back to main Health Information page Definition: Rusell-Silver syndrome is a congenital disease (present at birth) characterized by short stature and, frequently, asymmetry in the size of the two halves or other parts of the body. Alternative Names: Silver-Russell syndrome; Silver syndrome Causes And Risk: Genetic problems are thought to cause this syndrome, although the specific gene(s) remain to be discovered. The pattern of inheritance has not been determined, but in most cases it seems to occur without any family history of the condition. Children with Russell-Silver syndrome are born small and generally achieve less than 5 feet at adult height. Side-to-side asymmetry is fairly common. For example, a left body part may be larger than the right counterpart. This asymmetry may occur anywhere including the face. Other characteristics include excessive sweating , a small triangular face that makes the skull look large by comparison, inward curving 5th fingers, and colored spots on the skin called cafe-au-lait spots Symptoms: slow growth before birth short stature throughout childhood and at final height cafe-au-lait (coffee with milk) colored spots severe feeding problems in childhood (reflux disease, food aversion, failure to thrive)

79. Horst Ibelgaufts'COPE: Cytokines Online Pathfinder Encyclopaedia
    chromosome 7q11.212 is a candidate gene for silver-russell syndrome which isassociated with pre- a candidate for the silver-russell syndrome gene.  
    http://www.copewithcytokines.de/cope.cgi?4259

80. Salisbury
    silverrussell syndrome (Mat UPD7). 180860. Smith-Magenis (17p) (FISH). 182290.Spinal and Bulbar Muscular Atrophy. 313200. Spinal Cerebellar ataxia type 1  
    http://www.cmgs.org/new_cmgs/Laboratory Information/List of Labs/salisbury.htm
    
    Extractions: updated Laboratory: Wessex Regional Genetics Laboratory Postal address: Salisbury Health Care NHS Trust Salisbury District Hospital Salisbury Wiltshire Contact 1: Contact 2: Telephone 1: Telephone 2: Fax: Email 1: Email 2: Home page: Dr John Harvey Dr David Robinson john.harvey@salisbury.nhs.uk wessex.genetics@salisbury.nhs.uk www.wrgl.org.uk Disease service: OMIM reference number Achondroplasia Alpha-1-antitrypsin deficiency Amyloidosis (Finnish type) Aniridia (FISH) Autism (dup15q11-130 Beckwith-Wiedemann syndrome Breast /ovarian cancer : familial (BRCA1,BRCA2) Cat Eye syndrome (22q11) FISH Cerebellar ataxias Charcot Marie Tooth disease (1A,1B, X) Cystic Fibrosis Deafness, sensorineural Cx26 Di George, velocardiofacial (del 22q11)FISH DRPLA (Dentatorubral pallidoluysion atrophy) Duchenne / Becker Muscular Dystrophy Factor V Leiden Familial Adenomatous Polyposis coli Fragile X disease A and E (FMR1, FMR2) Friedreich ataxia Haemochromatosis Hereditary Non Polyposis Colon Cancer (HNPCC) Hypochondroplasia (FGFR3) Leukaemia translocations Marfan syndrome Mitochondrial diseases Myoclonus epilepsy progressive type 1 (Baltic) Myotonic dystrophy Oculopharyngeal Muscular Dystrophy Prader-Willi / Angelman syndrome Rett syndrome Rubenstein-Taybi (16p) (FISH) Silver-Russell Syndrome (Mat UPD7)

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