21. Entrez PubMed silverrussell syndrome (SRS) is characterised by pre- and postnatal growthrestriction (PNGR) and additional dysmorphic features including body asymmetry http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

22. N.C.M.G. Ireland | Silver-Russell Syndrome Service Description. The National Centre for Medical Genetics provides a comprehensive service forall patients and families in the Republic of Ireland affected by or at risk of http://www.genetics.ie/molecular/srs/

@import "../../css/layout.css"; home molecular genetics Silver-Russell Syndrome National Centre for Medical Genetics Silver-Russell Syndrome Background and Standard Service Information Silver-Russell syndrome, also known as Russell-Silver Syndrome or RSS is a malformation syndrome characterised by pre- and post-natal growth retardation. While the exact aetiology of RSS is unknown, 10% of cases are due to maternal uniparental disomy of the entire chromosome 7 [mUPD(7)]; that is, the patient has inherited both copies of chromosome 7 from the mother and none from the father. If present, mUPD(7) helps to make the diagnosis and indicates a low recurrence risk. Specific clinical features of RSS include: Pre and post natal growth retardation. Cerebral haemorrhage. Feeding difficulties (at 16 months) triangular face. Downturned mouth, micrognathia (unusually small jaw). Broad high forehead. Pointed chin. Low prominent dysplastic ears. Clinodactyly (inward bending) of little fingers and toes and mild psychomotor developmental delay. There is some evidence to suggest that mUPD(7) patients are less likely to have the triangular face, downturned mouth and micrognathia.

23. Is Maternal Duplication Of 11p15 Associated With Silver-Russell Syndrome? -- Egg Background silverrussell syndrome (SRS) is a heterogeneous malformation syndromecharacterised by intrauterine and postnatal growth retardation (IUGR, http://jmg.bmjjournals.com/cgi/content/abstract/42/5/e26

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Eggermann, T Articles by Wollmann, H A Related Collections Genetics Journal of Medical Genetics BMJ Publishing Group Ltd ELECTRONIC LETTER Is maternal duplication of 11p15 associated with Silver-Russell syndrome? T Eggermann E Meyer C Obermann I Heil M B Ranke K Eggermann and H A Wollmann Institute of Human Genetics, University Hospital, RWTH Aachen, Germany Correspondence to: Dr Thomas Eggermann Institute of Human Genetics, Pauwelsstr. 30, D-52074 Aachen, Germany; Background: Silver-Russell syndrome (SRS) is a heterogeneous malformation syndrome characterised by intrauterine and postnatal growth retardation (IUGR, PGR) and dysmorphisms. The basic causes

24. J Med Genet -- Sign In Page Keywords chromosome 11p15; maternal duplication; silverrussell syndrome.silver-russell syndrome (SRS) is a heterogeneous syndrome mainly characterised by http://jmg.bmjjournals.com/cgi/content/full/42/5/e26

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH Author Keyword(s) Vol Page [Advanced] Access to this article requires a subscription or payment. Full Text Is maternal duplication of 11p15 associated with Silver-Russell syndrome? Eggermann et al. J Med Genet. To view this item, select one of the options below: Login via Athens Login for existing subscribers User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgotten your user name or password? Subscribe Buy the article Pay per Article - You may access this article (from the computer you are currently using) for 2 days for US$12.00 SitePass - You may access all content in Journal of Medical Genetics Online (from the computer you are currently using) for 30 days for US$30.00. Regain access to an already purchased article if the access period has not yet expired. This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Eggermann, T

25. Human EGFR, A Candidate Gene For The Silver-Russell Syndrome, Is Biallelically E The European Journal of Human Genetics is the official Journal of the EuropeanSociety of Human Genetics, publishing highquality, original research papers, http://www.nature.com/doifinder/10.1038/sj.ejhg.5200179

NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help SEARCH my account e-alerts subscribe register ... Site features NPG Subject areas Access material from all our publications in your subject area: Biotechnology Cancer Chemistry NEW! Dentistry Development Drug Discovery Earth Sciences ... Physics March 1998, Volume 6, Number 2, Pages 158-164 Table of contents Previous Abstract Next PDF Original paper Human EGFR , a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues Emma L Wakeling 1,2,a , Sayeda N Abu-Amero , Philip Stanier , Michael A Preece and Gudrun E Moore Action Research Laboratory for the Molecular Biology of Fetal Development, Division of Paediatrics, Obstetrics and Gynaecology, Imperial College School of Medicine, Queen Charlotte's and Chelsea Hospital, London, UK Institute of Child Health, University of London, UK a Correspondence: Dr E Wakeling, Action Research Laboratory for the Molecular Biology of Fetal Development, Division of Paediatrics, Obstetrics and Gynaecology, Imperial College School of Medicine, Queen Charlotte's and Chelsea Hospital, Goldhawk Road, London W6 0XG, UK. Fax: +44 181 383 1838; Tel: +44 181 383 3533;E-mail: e.wakeling@rpms.ac.uk Abstract Maternal uniparental disomy of chromosome 7 (mUPD7) has been reported in around 10% of cases of Silver-Russell syndrome (SRS). This suggests that at least one gene on chromosome 7 is imprinted and involved in the pathogenesis of this condition. One candidate is epidermal growth factor receptor (

26. Silver-Russell Syndrome The spectrum of silverrussell syndrome a clinical and molecular genetic studyand new diagnostic criteria The spectrum of silver-russell syndrome a http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=472

27. [DYSPHAGIA] Child With Silver-Russell Syndrome Subject DYSPHAGIA Child with silverrussell syndrome; From cpruden@media-net.net (christinapruden); Date Tue, 15 Jun 1999 190911 -0500 http://list.dysphagia.com/dysphagia/1999-June/msg00098.html

Date Prev Date Next [Chronological] [Thread] ... [Top] [DYSPHAGIA] Child with Silver-Russell Syndrome Subject [DYSPHAGIA] Child with Silver-Russell Syndrome From cpruden@media-net.net (christina pruden) Date: Tue, 15 Jun 1999 19:09:11 -0500 I just received a referral from a pediatrician on a 9 year-old male with Silver-Russell Syndrome. One of his ongoing problems is poor weight gain. He is currently working with a nutritionist in our hospital. According to his mother, he has difficulty with swallowing/chewing food.He prefers liquids and a soft diet versus meat and fruit. Any ideas before I see this child I would appreciate any input. Christina Pruden cpruden@media-net.net - To UNSUBSCRIBE from this list, please send an e-mail message to majordomo@cyberport.com with the following text as a message: unsubscribe dysphagia - Prev by Date: [DYSPHAGIA] Child with Silver-Russell Syndrome Next by Date: [DYSPHAGIA] throat microphones Index(es): Chronological Thread

28. Silver-Russell Syndrome Federally Funded Research on silverrussell syndrome. E-Journals PubMed Central The Genome Project and silver-russell syndrome http://www.icongrouponline.com/health/Silver-Russell_Syndrome_Ph.html

ICON Health Publications Official Health Sourcebooks Search ICON Health Titles: SILVER-RUSSELL SYNDROME A Bibliography, Medical Dictionary, and Annotated Research Guide to Internet References (Russell Silver syndrome; Russell syndrome; Russell-Silver dwarfism; Silver syndrome; Silver-Russell dwarfism) P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Silver-Russell syndrome is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. Related Conditions/Synonyms Russell Silver syndrome; Russell syndrome; Russell-Silver dwarfism; Silver syndrome; Silver-Russell dwarfism

29. Swiss Society Of Neonatology We present the case of a girl with suspected silverrussell syndrome (SRS). silver-russell syndrome (SRS) was originally described by Silver and http://www.neonet.ch/cotm/html/body_case-june03.html

A newborn girl with suspected Silver-Russell syndrome Nordmann Y, Fauchère JC, Bucher HU Clinic of Neonatology, University Hospital Zurich, Switzerland We present the case of a girl with suspected Silver-Russell syndrome (SRS). SRS is a rare, clinically and genetically heterogeneous disorder involving intra-uterine and post-natal growth retardation with a wide spectrum of additional dysmorphic features. Because of the clinical heterogeneity, diagnosis can be rather subjective and is not always easy to confirm. Case presentation The girl, third child of a 30-years-old mother, was born prematurely at 31 6/7 weeks of gestation by caesarean section because of a pathologic CTG. Intrauterine growth retardation had been diagnosed at 26 6/7 weeks of gestation. At that time, amniocentesis and TORCH serologies were performed with inconspicuous results. Fig. 1. Large appearing head, high forehead, downturning corners of the mouth. Fig. 2. Asymmetry of the legs. Fig. 3. Weight and height Fig. 4.

30. Karger Publishers silverrussell syndrome; Genetics; Insulin-like growth factor-1 receptor;Uniparental disomy The silver-russell syndrome (SRS) is generally sporadic, http://content.karger.com/ProdukteDB/produkte.asp?Doi=53085

31. Human Genetics - UPD Maternal Chromosome 7 (1995) Uniparental disomy 7 in silverrussell syndrome and primordial growthretardation. Hum Mol Genet 4( 4) 583-7 Abstract http://genes.uchicago.edu/upd/upd7m.html

Maternal Chromosome 7 Chromosome 7. The maternal chromosome is shown on the left. An imprinting effect is certain. Annotated UPD Reference List for Maternal Chromosome 7 Eggerding, F. A.;Schonberg, S. A.;Chehab, F. F.;Norton, M. E.;Cox, V. A.;Epstein, C. J. (1994): Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. Am J Hum Genet 55( 2): 253-65 Abstract Eggermann, T.;Wollmann, H. A.;Kuner, R.;Eggermann, K.;Enders, H.;Kaiser, P.;Ranke, M. B. (1997): Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet 100( 3-4): 415-9 Abstract Kalousek, D. K.;Langlois, S.;Robinson, W. P.;Telenius, A.;Bernard, L.;Barrett, I. J.;Howard-Peebles, P. N.;Wilson, R. D. (1996): Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases. Am J Med Genet 65( 4): 348-52 Abstract Kotzot, D.;Schmitt, S.;Bernasconi, F.;Robinson, W. P.;Lurie, I. W.;Ilyina, H.;Mehes, K.;Hamel, B. C.;Otten, B. J.;Hergersberg, M.;et al. (1995): Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 4( 4): 583-7 Abstract Langlois, S.;Yong, S. L.;Wilson, R. D.;Kwong, L. C.;Kalousek, D. K. (1995): Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.

32. Syndrome Of Congenital Hemihypertrophy, Shortness Of Stature, And Elevated Urina silverrussell syndrome a dissection of the genetic aetiology and candidate The spectrum of silver-russell syndrome a clinical and molecular genetic http://pediatrics.aappublications.org/cgi/content/abstract/12/4/368

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Silver, H. K. Articles by Deamer, W. C. Pediatrics, Oct 1953, 368-376, Vol 12, No. 4 Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins HK Silver, W Kiyasu, J George and WC Deamer Department of Pediatrics, Yale University School of Medicine, New Haven A difference between the two sides of the body occurs in mild degree in all individuals since true symmetry of the two halves does not exist. However, marked disproportion is not common, and less than 120 cases have been reported in the world literature. The nature and causation of this condition have never been satisfactorily explained although there have been many speculative theories as to the etiology. The purpose of this paper is

33. Genetic Screening For Maternal Uniparental Disomy Of Chromosome 7 In Prenatal An silverrussell syndrome (SRS) represents an extreme syndrome of Key Wordssilver-russell syndrome • growth retardation • matUPD7 • imprinting http://pediatrics.aappublications.org/cgi/content/abstract/109/3/441

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Hannula, K. Articles by Kere, J. Related Collections PEDIATRICS Vol. 109 No. 3 March 2002, pp. 441-448 Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Prenatal and Postnatal Growth Retardation of Unknown Cause Katariina Hannula, MD, PhD Marita Lipsanen-Nyman, MD, PhD Paula Kristo, PhD Ilkka Kaitila, MD, PhD Kalle O. J. Simola, MD, PhD Hanna Liisa Lenko, MD, PhD Christer Holmberg, MD, PhD and Juha Kere, MD, PhD Department of Medical Genetics, University of Helsinki, Helsinki, Finland Hospital for Children and Adolescents, Helsinki University Central Hospital, Helsinki, Finland Clinical Genetics Unit, Helsinki University Central Hospital, Helsinki, Finland Department of Clinical Genetics, Center for Laboratory Medicine, Tampere University Hospital, Tampere, Finland

34. Dwarfism Types And Definitions Read a clinical summary of Ellisvan Creveld syndrome by the Greenberg Center for silver-russell syndrome Silver syndrome. See Russell-Silver syndrome. http://www.lpaonline.org/resources_dwarftypes.html

LPA Online Dwarfism Resources TYPES AND DEFINITIONS And announcing the LPA Medical Resource Center The links on this page are intended as a starting point for the lay person new parents, teachers, and the like. Little People of America is pleased to announce a comprehensive resource for medical information about dwarfism: the LPA Medical Resource Center. Click here to enter. This is where you should go to find information that is more in-depth. It is intended not just for the lay person, but for medical professionals as well. The Medical Resource Center is a major project overseen by LPA's medical resource director, Ericka Peasley, and technology activist David Bradford. Information about other types of dwarfism, and additional resources for those already listed, are always welcome. Send them to the LPA Online editor, Dan Kennedy, at dkennedy@lpaonline.org

35. Imperial - Molecular Genetics Of Growth And Development One model of particular interest to us is silverrussell syndrome in which the Maternal uniparental of chromosome 7 and the Silver Russell syndrome. http://www1.imperial.ac.uk/medicine/about/institutes/irdb/growthgenetics/default

Quick Navigation Imperial home page A-Z of Departments Courses Research Alumni Tanaka Business School Faculty of Engineering Faculty of Life Sciences Faculty of Medicine Faculty of Physical Sciences Spectrum (restricted to College users) People finder Help Your browser does not support javascript or you have javascript turned off. Although this will not affect your accessibility to the content of this site, some of the advanced navigation features may not be available to you. Faculty of Medicine About the Faculty Institutes and Centres IRDB Mol Genetics of Growth Note: Some of the graphical elements of this site are only visible to browsers that support accepted web standards . The content of this site is, however, accessible to any browser or Internet device. »  ..up.. »  Mol Genetics of Growth Molecular Genetics of Growth and Development Group Heads: Professor Gudrun Moore (Professor in Molecular Genetics) Dr. Philip Stanier (Reader in Molecular Genetics) PostDocs: Dr. Kit Doudney

36. Imperial - Professor Gudrun E Moore in Silver Russell syndrome delineating an imprinted candidate gene region . growth regulating gene IMP3, a candidate for silverrussell syndrome. http://www1.imperial.ac.uk/medicine/people/gudrun.moore.html

Quick Navigation Imperial home page A-Z of Departments Courses Research Alumni Tanaka Business School Faculty of Engineering Faculty of Life Sciences Faculty of Medicine Faculty of Physical Sciences Spectrum (restricted to College users) People finder Help Your browser does not support javascript or you have javascript turned off. Although this will not affect your accessibility to the content of this site, some of the advanced navigation features may not be available to you. Faculty of Medicine People Note: Some of the graphical elements of this site are only visible to browsers that support accepted web standards . The content of this site is, however, accessible to any browser or Internet device. »  Faculty of Medicine »  About the Faculty »  Teaching »  Research ... »  About This Site Professor Gudrun E Moore Name Professor Gudrun E Moore Position Professor of Molecular Genetics Department Division of Surgery, Oncology, Reproductive Biology and Anaesthetics, Medicine Telephone Email gudrun.moore @ imperial.ac.uk

37. Chromosome 7 Clinical Table UNIPARENTAL DISOMY 7 (Non Malignant) 9526615_1, 46, XY, upd(7) mat, silverrussell syndrome, pter 46, XY 100 skin,silver-russell syndrome, Hirschsprung s disease, facial dysmorphism http://www.chr7.org/clinical.php?breaktype=UNIPARENTAL DISOMY 7&browser=gbrowse&

38. Growth Assessment And Growth Failure: Etiologies Of Abnormal Growth Prominent among these recognized syndromes are silverrussell syndrome, Growth and symptoms in silver-russell syndrome review on the basis of 386 http://www.meadjohnson.com/professional/newsletters/ppv4n2a.html

Growth Assessment and Growth Failure: Etiologies of Abnormal Growth Daniel B. Kessler, M.D., F.A.A.P. Director, Arizona Child Study Center Clinical Associate Professor of Pediatrics Susan S. Baker, M.D., Ph.D. Division of Pediatric Gastroenterology Children's Hospital of Buffalo Lawrence A. Silverman, M.D. Division of Pediatric Endocrinology Goryeb Children's Hospital Atlantic Health System Published 2004 Preface Introduction top Normal growth begins in utero . Fetal growth is affected by a variety of issues, including intrinsic fetal factors, maternal factors, and uteroplacental pathology. Chromosomal Derangements top Common among the factors that affect fetal growth are chromosomal abnormalities. Of these, the most common is Down syndrome, affecting 1 in 600 live born infants. Babies with Down syndrome, on average, weigh 500 gm less than unaffected babies and are 2-3 cm shorter. The average height of an adult with Down syndrome is significantly less than population average. Specific growth curves exist to track affected children. By employing disease-specific growth curves, changes in height would be more obvious than on the population curve. For instance, Hashimoto thyroiditis with subsequent hypothyroidism may be an endocrine cause of growth failure in children with Down syndrome. The concomitant decline in growth rate would be easily noted on a disease-specific curve but may be overlooked in a child who is always well below the curve. While growth hormone may increase final height in children with Down syndrome, this is an off-label use, and there is no widespread consensus on this matter.

39. Cognitive Abilities Associated With The Silver-Russell Syndrome -- Lai Et Al. 71 Approximately half of children with the silverrussell syndrome have The spectrum of silver-russell syndrome a clinical and molecular genetic study and http://adc.bmjjournals.com/cgi/content/abstract/archdischild;71/6/490

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Lai, K. Articles by Hindmarsh, P PAPERS Cognitive abilities associated with the Silver-Russell syndrome KY Lai, D Skuse, R Stanhope and P Hindmarsh Department of Psychiatry, Prince of Wales Hospital, Shatin, Hong Kong. There is no consensus opinion on whether or not cognitive impairments are found in the Silver-Russell syndrome. An investigation of a substantial sample was undertaken, using standardised assessments, in 20 boys and five girls aged 6.0 years to 11.8 years. Mean (SD) birth weights were -2.65

40. Adolescent Growth And Pubertal Progression In The Silver-Russell Syndrome -- Dav The spectrum of silverrussell syndrome a clinical and molecular genetic studyand new diagnostic criteria J. Med. Genet., November 1, 1999; http://adc.bmjjournals.com/cgi/content/abstract/archdischild;63/2/130

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted ... Citation Map Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Davies, P. Articles by Preece, M. PAPERS Adolescent growth and pubertal progression in the Silver-Russell syndrome PS Davies, R Valley and MA Preece Department of Growth and Development, Institute of Child Health, London. The pattern of growth and development of 18 adolescent children with the Silver-Russell syndrome was studied. Mature height was about -3.6 standard deviation scores in both sexes. This is comparable to the height reduction at diagnosis, which has been reported previously. The pattern of puberty

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