41. Tab001gml: Genetic Diseases Caused By Imprinting Effects In Humans (1995) Uniparental disomy 7 in silverrussell syndrome and primordial growth (1997) Molecular studies in 37 silver-russell syndrome patients frequency http://www-ermm.cbcu.cam.ac.uk/02004623h.htm

Expert Reviews in Molecular Medicine: http://www.expertreviews.org/ Accession information: (02)00462-3h.htm (shortcode: tab001gml); 9 May 2002 Reprint/PDF version Back to main article Genetic diseases caused by imprinting effects in humans Megan P. Hitchins and Gudrun E. Moore Author contact details Table. 1 Genetic diseases caused by imprinting effects in humans (tab001gml) Disease MatUPD14 syndrome mUPD15; chromosomal region 15q11-13 Angelman syndrome Abbreviations: mUPD, maternal uniparental disomy; pUPD, paternal uniparental disomy. References cited in Table 1 PubMed PubMed PubMed PubMed ... Cambridge University Press ISSN 1462-3994 Editorial Office: Centre for Applied Research in Educational Technologies (CARET) , 1st Floor, 16 Mill Lane, Cambridge, CB2 1SB, UK. Tel: +44 (0)1223 765 375; Fax: +44(0)1223 765 505; E-mail: ermm@caret.cam.ac.uk

42. Txt001gml: Genomic Imprinting In Fetal Growth And Development (1995) Growth and symptoms in silverrussell syndrome review on the basis (1995) Uniparental disomy 7 in silver-russell syndrome and primordial growth http://www-ermm.cbcu.cam.ac.uk/0200457Xh.htm

Expert Reviews in Molecular Medicine: http://www.expertreviews.org/ Accession information: (02)00457-Xh.htm (shortcode: txt001gml); 9 May 2002 Reprint/PDF version How to cite this article Genomic imprinting in fetal growth and development Megan P. Hitchins and Gudrun E. Moore Author contact details Genomic imprinting is defined as the differential expression of a gene or chromosomal region according to the parental origin of inheritance. Both the maternal and paternal alleles are present, but while one is functionally active, the other is silenced (inactive) in somatic cells ( Fig. 1a Evidence for genomic imprinting of the maternal and paternal genomes The first evidence for genomic imprinting was provided by classical mouse experiments using the technique of pronuclear transplantation (Ref. ). Mouse embryos that were diploid but with the nuclear material derived solely from the maternal (gynogenetic) or paternal (androgenetic) genomes were created, but failed to develop post-implantation. In gynogenotes, development of the extraembryonic tissues was poor, although an embryo was present. Conversely, embryonic development in androgenotes was considerably retarded but substantial growth of the trophoblast and yolk sac was evident (Refs ). These experiments demonstrated that diploidy alone is not sufficient for normal embryonic development, but that both the maternal and paternal genomes are required. Furthermore, they showed that the maternal genome appears to be biased towards fetal development, whereas the paternal genome contributes more towards the development of extraembryonic structures (Ref.

43. Russell Silver Syndrome (RSS) Synonyms. RSS; SRS; Russell Syndrome; Silver Syndrome; silverrussell syndrome;Russell-Silver Dwarfism; Silver-Russell Dwarfism http://www.bchealthguide.org/kbase/nord/nord377.htm

var hwPrint=1;var hwDocHWID="nord377";var hwDocTitle="Russell Silver Syndrome (RSS)";var hwRank="1";var hwSectionHWID="nord377-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Russell Silver Syndrome (RSS) Important It is possible that the main title of the report Russell Silver Syndrome (RSS) is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms RSS SRS Russell Syndrome Silver Syndrome Silver-Russell Syndrome Russell-Silver Dwarfism Silver-Russell Dwarfism Disorder Subdivisions Russell-Silver Syndrome, X-linked (Partington Syndrome) General Discussion Other physical findings associated with this disorder may include permanent fixation of the fifth fingers in a bent position (clinodactyly); webbing of the second and third toes (syndactyly); underdevelopment (hypoplasia) of certain bones of the fingers (phalanges); development of smooth, coffee-colored patches on the skin (cafe-au-lait spots); and/or abnormalities of the kidney and urinary tract. Most cases of Russell-Silver Syndrome are the result of new genetic changes (mutations) that occur randomly for no apparent reason (sporadic). If this mutation were to be inherited, it would do so as an autosomal dominant genetic trait. In rare cases, it is thought that the disorder may be inherited as an autosomal recessive genetic trait. In addition, a rare form of Russell-Silver Syndrome is thought to be inherited as an X-linked dominant genetic trait.

44. Server/Human/doc : Abstract An 8year-8-month-old girl with silver-russell syndrome (SRS) and apaternally inherited balanced t(17;20)(q25;q13) is described. http://veille-srv.inist.fr/bin/dilib/AppliHuman2/doc.fibres.cgi?/applis/veille/h

45. Server/Human/doc : Abstract silverrussell syndrome (SRS) is characterized by a severe intrauterineand postnatal growth retardation, relative macrocephaly associated with http://veille-srv.inist.fr/bin/dilib/AppliHuman2/doc.fibres.cgi?/applis/veille/h

46. Raisingkids: Ask Our Experts - Silver-Russell Syndrome What is silverrussell syndrome, and is it associated with poor weight-gain?Our Nutrition expert, David Swain, advises. http://www.raisingkids.co.uk/ask/ex03_pri01.asp

Search Sitemap Newsletter About Us Home ... Work For Us Ask Our Experts: Silver-Russell Syndrome What is Silver-Russell Syndrome, and is it associated with poor weight-gain? Our nutrition expert, David Swain, advises. Raisingkids member's problem My son has been fed though a gastrostomy since he was 3 months old and now he won't eat. He gets 1000 ml of 'Nutrini Extrain' his feeding pump at night but he's still underweight and doesn't put on weight well. He also has Silver-Russell Syndrome and a curved spine - could this have anything to do with it? If not, have you any suggestions on how to help? He is 5 yrs-old now, and I don't get any answers from anybody. David's advice Russell-Silver syndrome (RSS) has a number of recognised characteristics. Some individuals have many of the documented traits, while others have very few. Almost every individual with the syndrome has: low birth weight (Intrauterine Growth Retardation) decreased birth length triangular shaped face (lessens with age) long narrow head at birth postnatal growth retardation poor appetite in early years Beyond this the characteristics vary very widely. However, the early years are often the most difficult and typically appetite will improve with age.

47. NORD - National Organization For Rare Disorders, Inc. RSS; Russell Syndrome; RussellSilver Dwarfism; SRS; Silver Syndrome; Silver-RussellDwarfism; silver-russell syndrome. Disorder Subdivisions http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Russell Silve

48. Uniparental Disomy 7 In Silver-Russell Syndrome And Primordial Growth Retardatio We investigated 35 patients with either the silverrussell syndrome or primordial silver-russell syndrome a dissection of the genetic aetiology and http://hmg.oxfordjournals.org/cgi/content/abstract/4/4/583

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (156) Request Permissions PubMed PubMed Citation Articles by Kotzot, D. Articles by Hergersberg, M. ARTICLES Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation D Kotzot, S Schmitt, F Bernasconi, WP Robinson, IW Lurie, H Ilyina, K Mehes, BC Hamel, BJ Otten and M Hergersberg Institute of Medical Genetics, University of Zurich, Switzerland. Maternal uniparental disomy for the entire chromosome 7 has so far been reported in three patients with intrauterine and postnatal growth retardation. Two were detected because they were homozygous for a cystic fibrosis mutation for which only the mother was heterozygous, and one

49. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ Books silverrussell syndrome - A Medical Dictionary, Bibliography, and Annotated The CaF Directory - A definition of Silver Russell syndrome, http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Russell Silver Syndrome Subtopics See Also: Health: Conditions and Diseases: Rare Disorders Search Google: Russell Silver Syndrome News Books Links ... UF Scientist Finds Unexpected Link Between Cat And Human AIDS Viruses (September 9, 2005) full story 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 Anthrax Stops Body From Fighting Back, Study Shows (September 7, 2005) 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)

50. Definitions Of Genetic Disorders-S Silver Syndrome rss.htm SilverRussell Dwarfism rss.htm silver-russell syndromerss.htm Simmond s Disease sheehan.htm Simons Syndrome lipodyst.htm http://www.icomm.ca/geneinfo/def-s.htm

51. Maladies Rares, Maladies Orphelines RussellSilver Syndrome see silver-russell syndrome SCID see Primary ImmuneDeficiencies SED see Restricted Growth SIDS see Cot Death SLE see Lupus http://www.fmo.easynetonline.net/anciensite/listcaf.html

Maladies rares maladies orphelines ATTENTION : VOUS ETES SUR L'ANCIEN SITE DE LA FEDERATION DES MALADIES ORPHELINES Vous pouvez vous diriger vers le nouveau site en cliquant - ici Retour Liste Contact A Family 2 Hydroxglutaric Aciduria see Metabolic Diseases 4 Hydroxybutyric Aciduria see Metabolic Diseases 2-Methylacetoacetyl-CoA Thiolase Deficiency see Metabolic Diseases 3-Hydroxy Acyl CoA Dehydrogenase Deficiency see Metabolic Diseases 3-Hydroxy-Methylglutaril CoA Lyase Deficiency see Organic Acidaemias 3-Methylglutaconic Aciduria see Metabolic Diseases 4p-Syndrome see Wolf-Hirschhorn Syndrome 5 Alpha Reductase Deficiency see Metabolic Diseases 5-Oxoprolinuria see Metabolic Diseases 21 Hydroxylase Deficiency see Congenital Adrenal Hyperplasia aAA see Acquired Aplastic Anaemia ADA see Primary Immune Deficiencies ADD see Attention Deficit Hyperactivity Disorder ADHD see Attention Deficit Hyperactivity Disorder ADL see Adrenoleukodystrophy AIDS see HIV Infection and AIDS AMC see Arthrogryposis ASD see Heart Defects ATR-X see Alpha Thalassaemia/Mental Retardation on the X Chromosome Abdominal Exstrophies Abetalipoproteinaemia see Metabolic Diseases Achondroplasia see Restricted Growth Acne Acne Vulgaris see Acne Acquired Aplastic Anaemia Acrodermatitis Enteropathica see Metabolic Diseases Acrofacial dysostosis see Nager Syndrome Acute Idiopathic Polyneuritis see Guillain-Barré Syndrome and other Neuropathies Acute Inflammatory Polyneuropathy see Guillain-Barré Syndrome and other Neuropathies

52. Dr. Koop - Russell-Silver Syndrome silverrussell syndrome; Silver syndrome. Causes, incidence, and risk factors.Genetic problems are thought to cause this syndrome, although the specific http://www.drkoop.com/ency/93/001209.html

Home Health Reference Russell-Silver syndrome Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Russell-Silver syndrome 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, 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 New Features Fewer Migraines Skin Cancer Atkins/Low Carb Diets Learn More About Migraines * All Health Centers * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD)

53. Dr. Koop - Russell-Silver Syndrome RusellSilver syndrome is a congenital disease (present at birth) characterizedby and, Alternative Names. silver-russell syndrome; Silver syndrome http://www.drkoop.com/ency/93/001209prv.html

Home Health Reference Russell-Silver syndrome Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Russell-Silver syndrome Injury Disease Nutrition Poison ... Prevention Russell-Silver syndrome Alternative Names: Silver-Russell syndrome; Silver syndrome New Features Fewer Migraines Skin Cancer Atkins/Low Carb Diets Learn More About Migraines * All Health Centers * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks Disabled/Special Needs Drug Abuse Ear/Nose/Throat Eating/Appetite Eczema Encephalitis Eye/Vision Fatigue Fever Flu Food Poisoning Foot Gallbladder Gastrointestinal Genetic/Congenital GERD/Heartburn Hair Loss Hair/Scalp Headache Hearing Heart Disease, Stroke

54. MedlinePlus Medical Encyclopedia: Russell-Silver Syndrome silverrussell syndrome; Silver syndrome. Definition Return to top. Russell-Silversyndrome is a disorder present at birth and diagnosed no later than early http://www.nlm.nih.gov/medlineplus/ency/article/001209.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Russell-Silver syndrome Contents of this page: Alternative names Definition Causes, incidence, and risk factors Symptoms ... Calling your health care provider Alternative names Silver-Russell syndrome; Silver syndrome Definition Return to top Russell-Silver syndrome is a disorder present at birth and diagnosed no later than early childhood. It is characterized by poor growth demonstrated by low birth weight and short stature (adult height usually less than 5 feet) and, frequently, asymmetry in the size of the two halves or other parts of the body. The facial features may have a characteristic appearance: triangular shape with broad forehead small pointed chin thin wide mouth Children with Russell-Silver syndrome are at risk for developmental and motor delays as well as learning disabilities. Causes, incidence, and risk factors Return to top There is no one cause known for this rare disorder. Most cases are sporadic, that is, occur as an isolated finding in a family with no other affected family member. The features associated with Russell-Silver syndrome have been described in association with many genetic abnormalities such as: chromosome rearrangements uniparental disomy (UPD) 7 autosomal dominant and recessive families (rarely reported) More than 400 cases have been reported. Estimates of incidence range from as high as 1 in 3,000 to as low as 1 in 100,000. Males and females are equally affected.

55. %180860 SILVER-RUSSELL SYNDROME; SRS silverrussell syndrome (SRS) was reported independently by Silver et al. (1989) described unusually severe silver-russell syndrome in 3 children with http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:180860] -e

56. *601029 MESODERM-SPECIFIC TRANSCRIPT, MOUSE, HOMOLOG OF; MEST 7 in humans is associated with phenotypic features of silverrussell syndrome (SRS; for UPD7 in patients with silver-russell syndrome, for example. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:601029] -e

57. Silver-Russell Dwarfism: Information From Answers.com SilverRussell dwarfism, also called silver-russell syndrome or Russell-Silversyndrome is a growth disorder occurring in approximately 1/75000 births. http://www.answers.com/topic/silver-russell-dwarfism

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Silver-Russell dwarfism Wikipedia Silver-Russell dwarfism Silver-Russell dwarfism , also called Silver-Russell syndrome or Russell-Silver syndrome is a growth disorder occurring in approximately 1/75000 births. It is a genetic anomaly, and there are no tests to determine if this is what a child has. Symptoms are (IUGR) combined with some of the following: Often a diagnosis of Small for Gestation Age (SGA) at birth Feeding problems, the baby is uninterested in feeding and takes only small amounts with difficulty. Excessive sweating as a baby, especially at night, and a greyness or pallor of the skin. This may be a symptom of low blood sugar in the blood ( hypoglycemia Triangular shaped face with a small jaw and a pointed chin. The mouth tends to curve down. A blue tinge to the whites of the eyes in younger children Head appears large - the head circumference may be of normal size which means it can appear large in comparison to a small body size. Wide and late closing fontanelle Clinodactyly, the little finger on each hand may be small and curve inwards.

58. The Chromosome 7 Project: New Genes LIM kinase (LIMK1) is at 7q11.23 in the Williams syndrome deletion, see ref. 27 . 7q3134 which may have a role in silver-russell syndrome, see ref. http://www.genet.sickkids.on.ca/chromosome7/newGenes.html

Congenital chloride diarrhorea (CLD) is caused by mutations in the Down-regulated in adenoma (DRA) gene, see reference Hereditary pancreatitis (HP) is caused by mutations in the trypsinogen gene, see reference Holoprosencephaly (HPE3) is caused by mutations in the Sonic hedgehog (SHH) gene, see references #41 and #42 Putative locus for inflammatory bowel disease (IBD) on chromosome 7, see reference Wilms tumor locus maps to 7p, see ref. #49 and #64 Saethre-Chotzen syndrome is caused by mutations in the TWIST gene localized to 7p21-p22, see references #60, #61, #63 and #90. Blepharophimosis syndrome demonstrates linkage to 7p in an Indian pedigree, see ref. The cerebral cavernous malformation gene (CCM1) maps to a 4-cM interval of 7q21, see ref. #69. Postaxial polydactyly type-A (PAP-A) maps to 7p15-q11.23 in an Indian pedigree, see ref. #74. Pendred syndrome is inherited as an autosomal recessive trait and maps to 7q31 coincident with locus DFNB4, see ref. #75. Overexpression of Sonic Hedgehog (SHH) at 7q36 induces basal cell carcinomas in mice, see ref. #81. The HPRC (Hereditary Papillary Renal Carcinoma) gene is located at chromosome 7q31.1-34. Missense mutations in the MET proto-oncogene may lead to activation of the MET protein and papillary renal carcinomas, see ref. #85.

59. Russell-Silver Syndrome Medical Information RussellSilver syndrome Information from Drugs.com. Alternative Names.silver-russell syndrome; Silver syndrome. Causes. There is no one cause known for http://www.drugs.com/enc/russell_silver_syndrome.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Russell-Silver syndrome Injury Disease Nutrition Poison ... Z Russell-Silver syndrome Definition Russell-Silver syndrome is a disorder present at birth and diagnosed no later than early childhood. It is characterized by poor growth demonstrated by low birth weight and short stature (adult height usually less than 5 feet) and, frequently, asymmetry in the size of the two halves or other parts of the body. The facial features may have a characteristic appearance: triangular shape with broad forehead small pointed chin thin wide mouth Children with Russell-Silver syndrome are at risk for developmental and motor delays as well as learning disabilities. Alternative Names Silver-Russell syndrome; Silver syndrome

60. Russell Silver Syndrome (RSS) RSS; SRS; Russell Syndrome; Silver Syndrome; silverrussell syndrome; Russell-SilverDwarfism; Silver-Russell Dwarfism. Disorder Subdivisions http://my.webmd.com/hw/health_guide_atoz/nord377.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Russell Silver Syndrome (RSS) Important It is possible that the main title of the report Russell Silver Syndrome (RSS) is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms RSS SRS Russell Syndrome Silver Syndrome Silver-Russell Syndrome Russell-Silver Dwarfism Silver-Russell Dwarfism Disorder Subdivisions Russell-Silver Syndrome, X-linked (Partington Syndrome) General Discussion Other physical findings associated with this disorder may include permanent fixation of the fifth fingers in a bent position (clinodactyly); webbing of the second and third toes (syndactyly); underdevelopment (hypoplasia) of certain bones of the fingers (phalanges); development of smooth, coffee-colored patches on the skin (cafe-au-lait spots); and/or abnormalities of the kidney and urinary tract. Most cases of Russell-Silver Syndrome are the result of new genetic changes (mutations) that occur randomly for no apparent reason (sporadic). If this mutation were to be inherited, it would do so as an autosomal dominant genetic trait. In rare cases, it is thought that the disorder may be inherited as an autosomal recessive genetic trait. In addition, a rare form of Russell-Silver Syndrome is thought to be inherited as an X-linked dominant genetic trait.

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