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

Dwarfism / Short Statur e (Skeletal Dysplasias, Achondroplasia, Jeune Syndrome Organizations Clinics International ... Little People of America (LPA) , Inc. P.O. Box 745, Lubbock, TX 79408 Toll free help line: 888.LPA.2001 (24 hours daily) E-mail: LPADataBase@juno.com Web Site: www.lpaonline.org Little People of America Teen Page, Books Organization Links Types of Dwarfism and Definitions LPA Parents' Forum (not currently active, web only), Mayeux family, jmayeux@gte.net LPA Parents' Committee - Rob and Betty Jacobsen, 3010 Olympia Way, Longview, WA 98632, Voice: (360) 636-0276, BBS/fax: (360) 578-1948, E-mail: jacobsen@aone.com Frequently Asked Questions Languages: English, Spanish dwarfism.org Billy Barty Foundation, Inc. 929 W Olive Avenue, Suite C, Burbank, CA 91506 Phone: 818.953.5410 Fax: 818.953.7129 Web site: www.rth.org/bbf/ Educational and lobbying for individuals with dwarfism Human Growth Foundation 7777 Leesburg Pike (P.O. Box 309), Falls Church, VA 22043

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

Home Search Sitemap Contact ... Fetal Growth Workshop Maternal UPD 7, Silver-Russell Syndrome, and Imprinted Candidate Genes Maternal UPD 7, Silver-Russell Syndrome, and Imprinted Candidate Genes (PowerPoint Slides - 1.75MB PDF Format) Drs. David Monk and Gudrun Moore 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

Members Only Small for Gestational Age Underlying Conditions of Growth Abnormalities Networking ... Russell-Silver Syndrome General Information 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

References for: GH Treatment and Its Effect on Bone Mineral Density, Bone Maturation and Growth in Short Children Born Small for Gestational Age: 3-year Results of a Randomized, Controlled GH Trial

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

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. Herein, we demonstrate that an imprinted gene, , is apparently identical to growth factor receptor-bound protein 10 ), which is located on mouse proximal chromosome protein was reported to bind to the insulin receptor and/or the insulin-like growth factor (IGF) I receptor via its src homology 2 domain and to inhibit the associated tyrosine kinase activity that is involved in the growth promoting activities of insulin and IGFs ( IGF-I and -II). Thus, it is probable that Meg1/Grb10 is responsible for the imprinted effects of prenatal growth retardation or growth promotion caused by maternal or paternal duplication of proximal chromosome 11 with reciprocal deficiencies (MatDp.prox11 or PatDp.prox11), respectively.

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

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). Three imprinted genes, MEST , and on chromosome 7q32, are unlikely to cause SRS since epigenetic and sequence mutation analyses have not shown any changes. One hundred kilobases proximal to MEST lies a group of four carboxypeptidase A ( CPA ) genes. Since most imprinted genes are found in clusters, this study focuses on analysing these CPAs for imprinting effects based on their proximity to an established imprinted domain. Firstly, a replication timing study across 7q32 showed that an extensive genomic region including the CPAs, MEST , and replicates asynchronously. Subsequently, SNP analysis by sequencing RT-PCR products of , and indicated preferential expression of Pyrosequencing was used as a quantitative approach, which confirmed predominantly preferential expression of the maternal allele and biallelic expression in brain.

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

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 Russell-Silver syndrome 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

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 Russell-Silver syndrome Overview Symptoms Treatment Prevention Alternative Names: Silver-Russell syndrome; Silver syndrome 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) Signs and tests: A physical examination may show: delayed closure of anterior fontanel (soft spot) side to side asymmetry (especially limbs) curved-in fifth finger (clinodactyly) normal intelligence small or "pushed-back" jaw ( micrognathia or retrognathia ) small triangular face with normal head circumference 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

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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

European Journal of Endocrinology INVITED REVIEW: Parental genomic imprinting in endocrinopathies Constantin Polychronakos and Asterios Kukuvitis References Nature Medline Nature Medline Nature Genetics Medline Nature Medline American Journal of Medical Genetics Medline Molecular Diagnosis Medline American Journal of Human Genetics Medline American Journal of Human Genetics Medline Genesis Medline American Journal of Human Genetics Medline European Journal of Human Genetics Medline Neurogenetics Medline Human Molecular Genetics Medline Journal of Medical Genetics Medline Human Molecular Genetics Medline Human Genetics Medline American Journal Human Genetics American Journal of Human Genetics Medline Human Molecular Genetics Medline Biochemical and Biophysical Research Communications Medline European Journal of Human Genetics Medline American Journal of Human Genetics Medline PNAS Medline Journal of Biological Chemistry Medline J. Biol. Chem. Journal of Clinical Investigations Nature Medline Nature Medline Nature Medline Cancer Research Medline New England Journal of Medicine Medline Diabetes Medline Human Molecular Genetics Medline Journal of Biological Chemistry Medline J. Biol. Chem.

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

Disease Injury Nutrition Poison ... Z Russell-Silver syndrome 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, 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 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)

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

Sorry, the URL specified, http://ppv.ovid.com:80/pt/re/adcn/fulltext.00042223-200201000-00003.htm , is invalid. To go to site for "OvidPPV" please click here http://ppv.ovid.com To go to site for "Archives of Disease in Childhood Fetal & Neonatal Edition" please click here http://www.lwwonline.com To go to the LWW Online site, please click here http://www.lwwonline.com Thank you

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

•¶Œ£ƒŠƒXƒg Miki H, Lee J, Inoue K, Ogonuki N, Noguchi Y, Mochida K, Kohda T, Nagashima H, Ishino F, Ogura A. Microinsemination with first-wave round spermatids from immature male mice. J Reprod Dev. 2004 Feb; Kai M, Irie M, Okutsu T, Inoue K, Ogonuki N, Miki H, Yokoyama M, Migishima R, Muguruma K, Fujimura H, Kohda T, Ogura A, Kaneko-Ishino T, Ishino F. The novel dominant mutation Dspd leads to a severe spermiogenesis defect in mice. Biol Reprod. 2004 Apr; Kaneko-Ishino T, Kohda T, Ishino F. The regulation and biological significance of genomic imprinting in mammals. J Biochem (Tokyo). 2003 Jun; Ono R, Shiura H, Aburatani H, Kohda T, Kaneko-Ishino T, Ishino F. Identification of a large novel imprinted gene cluster on mouse proximal chromosome 6. Genome Res. 2003 Jul; Inoue K, Ogonuki N, Mochida K, Yamamoto Y, Takano K, Kohda T, Ishino F, Ogura A. Effects of Donor Cell Type and Genotype on the Efficiency of Mouse Somatic Cell Cloning. Biol Reprod. 2003 Oct; Ogura A, Inoue K, Ogonuki N, Lee J, Kohda T, Ishino F. Phenotypic effects of somatic cell cloning in the mouse. Cloning Stem Cells. 2002;

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

Injury Disease Nutrition Poison ... Prevention Russell-Silver syndrome 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 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 Reviewed By: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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

3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia Health Encyclopedia Back to main Health Information page Disease - Russell-Silver syndrome 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

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) Huntington Disease Hypochondroplasia (FGFR3) Leukaemia translocations Marfan syndrome Mitochondrial diseases Myoclonus epilepsy progressive type 1 (Baltic) Myotonic dystrophy Oculopharyngeal Muscular Dystrophy Prader-Willi / Angelman syndrome PTEN Rett syndrome Rubenstein-Taybi (16p) (FISH) Silver-Russell Syndrome (Mat UPD7)

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