41. Trisomy 18.... 1995 Translate this page Titre/Title, sotos syndrome. Editeur/Editor, MacKeith Press.Lieu/Place, London, UK. Date, 1995. Collation/Series, p.186-88. http://www.cidg.com/~marienf/k/i/n/m003111.htm

# Mono.: S0002812 Cote/Call Number Auteur/Author Udwin, Orlee Dennis, Jennifer Titre/Title Trisomy 18. Editeur/Editor MacKeith Press Lieu/Place London, U.K. Date Collation/Series p.194-95 Descripteurs/Descriptors Trisomie 18 Phenotype comportemental Coll.: Clinics in Developmental Medicine, No 138 Demande par courrier Type de demande: < Client (nom, adresse...): Type de demande: PEB Photocp (frais) Commentaires:

42. AD HOC BIBLIO - INDEX SUJETS LETTRE S Compilé Le 14/01/03 sotos syndrome Cerebral gigantism .a; Parent guide to sotos syndrome a;Psychological characteristics of sotos syndrome .a; http://www.cidg.com/~marienf/k/i/mid5s.htm

43. Healthfinder® — What Is Sotos Syndrome? What is sotos syndrome? internet URL. http//www.well.com/user/sssa/whatisit.htm.sponsoring agency. sotos syndrome Support Association. description. http://www.healthfinder.gov/Scripts/ShowDocDetail.asp?doc=2278&lang=1

44. Healthfinder® — Sotos Syndrome Support Association - SSSA The sotos syndrome Support Association (SSSA) was organized in 1988 to providea support network for families and individuals affected by the syndrome. http://www.healthfinder.gov/orgs/HR2419.htm

health library just for you health care organizations search: help Sotos Syndrome Support Association - SSSA organization URL(s) sssa@well.com www.well.com/user/sssa/ other contact information Three Danada Square East Wheaton, IL 60187 888-246-7772 (Voice - Toll-free) description The Sotos Syndrome Support Association (SSSA) was organized in 1988 to provide a support network for families and individuals affected by the syndrome. Sotos syndrome, also known as cerebral gigantism, is a neurological brain-based disorder resulting in physical and mental developmental delays in children. The goals of the SSSA are to provide a social support environment for families and individuals with Sotos syndrome; increase public awareness and education about the disorder; and provide opportunites for professionals working with affected individuals to collect and share data for research. The SSSA has members across the United States, Canada and Great Britain, and sponsors an annual conference. online resources What is Sotos Syndrome?

45. GeneCards Disorder Information: Sotos Syndrome GeneCards Disorder Information sotos syndrome Search different databasescontaining disease information by clicking on the buttons below. http://www.rzpd.de/cgi-bin/cards/disodisp?Sotos syndrome

46. Perinnöllisyysklinikan Tietolehtiset Sekä Tilauslomake Sotosin oireyhtymästä Avainsanat (synonyymit) Sotos, Sotosin oireyhtymä, Sotosinsyndrooma, sotos syndrome, cerebral gigantism. Cole TRP. sotos syndrome. http://www.vaestoliitto.fi/toimintayksikot/perinnollisyysklinikka/sisaltosivut/s

Erikoislääkäri Maarit Peippo Väestöliiton perinnöllisyysklinikka 2002 Sotosin oireyhtymästä Avainsanat (synonyymit): Sotos, Sotosin oireyhtymä, Sotosin syndrooma, Sotos syndrome, cerebral gigantism Sotosin oireyhtymälle hyvin tyypillisiä ulkonäköpiirteitä ovat kupera, leveä ja korkea otsa, pitkänomainen kallon muoto, pitkä ja kärkeensä kapeneva leuka, ylöskaartuvat kulmakarvat ja hiukan alaspäin suuntautuvat luomiraot. Hiusraja on tavallista ylempänä ja nuorempana tukka on etenkin ohimoseudussa harvaa ja heikkokasvuista. Nenän, leuan ja poskien ihopunotus yleistä. Sotosin oireyhtymässä kasvu on nopeinta varhaislapsuudessa. Kasvulle ominaista on vartaloon nähden suhteellisesti pitkät raajat ja pituuteen nähden usein isot kämmenet ja jalkaterät. Vaikka lopullinenkin pituus on usein keskimääräistä suurempi ei odotettavissa kuitenkaan ole jättikasvua. Sotos tytöillä kuukautiset näyttävät tulevan hiukan keskimääräistä nuorempana kun taas Sotos-pojilla murrosikäkehitys näyttää alkavan keskimääräistä myöhemmin. Tutkittua tietoa Sotos-henkilöitten hedelmällisyydestä ei ole, harvinaisista yksittäistapauksista kertova tieto ei puhu normaaleja lapsensaantimahdollisuuksia vastaan. Sisäelinten rakennepoikkeavuudet kuten sydänviat ovat Sotosin oireyhtymässä vain vähän yleisempiä kuin väestössä keskimäärin. Varhaislapsuudessa välikorva- ja hengitystietulehdukset ovat tavallisia. Ruoansulatuselimistön tavallisia oireita ovat lisääntynyt ruokahalu ja juominen sekä ummetus. Virtsatulehduksia ja virtsan takaisinvirtausta rakosta virtsanjohtimiin (ns vesikoureteraalinen refluks, VUR) on esiintynyt noin viidenneksellä. Hoitoa vaativaa lattajalkaisuutta ja selän ryhtivirheitä voi kehittyä. Noin puolella Sotos-lapsista on epilepsiaa tai kuumekouristuksia. Nämä kohtausoireet eivät yleensä ole suuri hoito-ongelma. Silmien taittovirheet ovat tavallisia, mutta näkövammaisuus hyvin poikkeuksellista. Kuulovammaisuuskaan ei ole yleistä Sotosissa.

47. ORPHANET® : Sotos Syndrome Translate this page ORPHANET. ORPHANET database access. sotos syndrome. Directaccess to details Alias Cerebral gigantism. Home Page. http://www.orpha.net/static/GB/sotos.html

ORPHANET database access Sotos syndrome Direct access to details Alias : Home Page

48. Error Page DISEASE Vasquez hurst sotos syndrome, Synonym(s) X linked hypogonadismgynecomastia mental retardation, MIM 309590, Sign(s) of the disease (27), http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3423

49. Sotos sotos syndrome Infantile Giantism,. the recent scientific literature. TITLETumors and nontumors in sotos syndrome letter. AUTHOR(S) CohenMM Jr. http://www.indiana.edu/~pietsch/sotos.html

return to Shufflebrain main menu SOTOS SYNDROME Infantile Giantism, the recent scientific literature A search of MEDLINE conducted at Indiana University , Bloomington, Indiana web contact: pietsch@indiana.edu The following items were compiled from MEDLINE using SilverPlatter and are presented with the latter organization's generous co-operation and permission. ( See SilverPlatter's Worldwide Library for bibliographic search information Sotos syndrome infantile (cerebral) giantism is a pre- and post-natal condition of in which a child's head and muscles grow at abnormally rapid rates and become unusually large. The cause is unknown. Useful Links: NINDS (National Institutes of Health) NORD Sotos Support Group Record 1 of 41 in MEDLINE EXPRESS (R) 1999/01-1999/10 TITLE: Tumors and nontumors in Sotos syndrome [letter] AUTHOR(S): Cohen-MM Jr SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 May 21; 84(2): 173-5 INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299 PUBLICATION YEAR: 1999 LANGUAGE OF ARTICLE: ENGLISH COUNTRY OF PUBLICATION: UNITED-STATES MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Child,-Preschool; Diagnosis,-Differential; Infant-; Nevus-diagnosis; Syndrome-

50. Syndrome - S sotos syndrome http://www.erzwiss.uni-hamburg.de/personal/hoffmann/syndrome/syn-s.html

Uni Hamburg FB Erziehungswissenschaft Institut 05 Suche ... Links S YNDROME - S Symbole: = Homepage; = Aufsatz, Artikel, Monographie; = Kurzinformation. Saethre Chotzen Syndrom Das Saethre-Chotzen Syndrom Schizophrenie The Schizophrenia Homepage The Schizophrenia Help Home Page A brilliAnt mAdness - John Nash Bartter Syndrom ... Hypoalemic Alkalosis with Hypercalciuria; Bartter Syndrome (OMIM) Silver Russel Syndrom Silver-Russel-Syndrom mit Keratokonus Russel Silver Syndrome (OMIM) Smith Lemli Opitz Syndrom Smith-Lemli-Opitz Advocacy and Exchange Smith Magenis Syndrom Smith-Magenis-Syndrom (SMS) Smith-Magenis Syndrome Sneddon Syndrom (Livedo Racemosa) Livedo racemosa - Sneddon's syndrome Sneddon Syndrome (OMIM) Sotos Syndrom Eltern-Initiative Sotos-Syndrom (EISS) Sotos Syndrome Support Association (SSSA) Wiebke Ludwig: Das Sotos Syndrom. Spastische Spinalparalyse Tom Wahlig Stiftung Spina bifida Arbeitsgemeinschaft Spina bifida und Hydrocephalus e.V. Association for Spina Bifida and Hydrocephalus Sudeck Syndrom (Algodystrophie, Complex Regional Pain Syndrome I) Morbus Sudeck Uni Hamburg FB Erziehungswissenschaft Institut 05 ... Links Diese Seite wurde erstellt von Thomas Hoffmann am 10. 7. 2000 (letzte Aktualisierung: 05. 02. 2003).

51. Soto('s) Syndrome sotos syndrome; Soto's Syndrome; sotos syndrome; SOTOS Association;Is anyone out there dealing with a condition called sotos syndrome? http://www.bdid.com/soto.htm

HOME Soto('s) Syndrome (Cerebral Gigantism) Sotos Syndrome Soto's Syndrome Sotos syndrome SOTOS Association ... HOME

52. IV SPECIFIC DISABILITIES (continued) SMITHMAGENIS SYNDROME. PRISMS Parents Researches Interested in Smith-MagenisSyndrome. sotos syndrome. sotos syndrome USA Support Association. http://www.pourhouse.com/ramp/ramp4.htm

IV: SPECIFIC DISABILITIES (continued) OBSESSIVE-COMPULSIVE DISORDER OC Foundation OSTEOGENESIS IMPERFECTA Osteogenesis Imperfecta Foundation OXALOSIS HYPEROXALURIA PEUTZ-HEGHERS SYNDROME Hereditary Colon Cancer Registry POLYPOSIS Intestinal Multiple Polyposis and Colorectal Cancer Familial Gastrointestinal Cancer Registry PSORIASIS National Psoriasis Foundation RESPIRATORY PAPILLOMATOSIS, RECURRENT Recurrent Resiratory Papillomatosis Foundation RETT SYNDROME International Rett Syndrome Association SCLERODERMA United Scleroderma Foundation SCOLIOSIS National Scoliosis Foundation SEPTO-OPTIC DYSPLASIA Special Parents Sharing Special Children FOCUS:For our Children's Unique Sight SHWACHMAN SYNDROME Shwachman Syndrome Support Services SMITH-MAGENIS SYNDROME SOTOS SYNDROME Sotos Syndrome USA Support Association Sotos Syndrome Support Association of Canada (SSSAC) Association Canadienne d'entraide du Syndrôme de Sotos (ACESS) SPINAL CORD INJURIES National Spinal Cord Injury Association American Paralysis Association STARGARDT DISEASE Stargardt International and Juvenile macular Dystrophies STUTTERING Stuttering Foundation of America National Stuttering Project National Center for Stuttering SYRINGOMYLEIA ASAP: American Syringomyelia Alliance Project THROMBOCYTOPENIA ABSENT RADIUS (TAR) SYNDROME TAR Association TOURETTE SYNDROME Tourette Syndrome Association TUBEROUS SCLEROSIS Tuberous Sclerosis Canada National Tuberous Sclerosis Association TWIN TO TWIN TRANSFUSION SYNDROME Twin to Twin Transfusion Syndrome Foundation

53. Connexion Citations for STO 1, Haploinsufficiency of NSD1 causes sotos syndrome. 2, No evidencefor uniparental disomy as a common cause of sotos syndrome. Smith M, et al. http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=STO

54. National Support Groups / Information Sites SmithMagenis Syndrome. PRISMS USA sotos syndrome sotos syndromeSupport Association; Families of Spinal Muscular Atrophy Home Page. http://www.mostgene.org/support/s-t.htm

Directory of Online Genetic Support Groups S-T The inclusion of any resource or link in MoSt GeNe does not imply endorsement. They are provided for educational purposes only. As scientific findings and medicine are changing rapidly, we urge you to note the date of publication of all material you view. Please consult with your health care provider regarding how any information found on the Internet may apply to your own situation. - S - Sanfilippo syndrome At the CDGS Family Network Schizencephaly 'Schiz Kidz Buddies' Scleroderma Scleroderma Research Foundation United Scleroderma Foundation Scleroderma Support Online Septo Optic Dysplasia Support Group Short Stature: Little People of America Shwachman Syndrome Support Group Shwachman Diamond Syndrome Friends Sickle Cell Disease Sickle Cell Society Sickle Cell Disease Research Foundation Sjogren's Syndrome Foundation Inc. Greenberg Center for Skeletal Dysplasias Smith-Lemli-Opitz Smith-Lemli-Opitz Syndrome SLO/RSH Website/Chatroom Smith-Magenis Syndrome PRISMS USA Sotos Syndrome Sotos Syndrome Support Association Families of Spinal Muscular Atrophy Home Page Spina Bifida Children with Spina Bifida Association for Spina Bifida and Hydrocephalus Tethered Cord Syndrome and Associated Anomalies in Adults Spina Bifida Parental Outreach ... Stevens Johnson Syndrome Support Group Still birth- see Miscarriage Sturge-Weber Foundation Succinate Dehydrogenase Deficiency at UMDF - T - Tay-Sachs Disease National Tay-Sachs Tethered Cord Syndrome and Associated Anamolies in Adults

55. Health Library - Sotos Syndrome Topics. Search. sotos syndrome. Self Help Clearinghouse. sotos syndromeSupport Association. International network. Founded http://uhcs.universityhealth.org/library/healthguide/selfhelp/topic.asp?hwid=shc

56. Kprones BannayanID10044 Arch Path 1971; 92 15. Medline 71233629. sotos syndrome with intestinal polyposisand pigmentary changes of the genitalia. Ruvalcaba RHA, Myhre S, Smith DW. http://www.infobiogen.fr/services/chromcancer/Kprones/BannayanID10044.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Bannayan-Riley-Ruvalcaba syndrome Identity Other names Bannayan-Zonana syndrome Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome Macrocephaly, pseudopapilledema, multiple hemangiomata Macrocephaly, multiple lipomas, hemangiomata Inheritance autosomal dominant; existence of sporadic cases Clinics Note Bannayan-Riley-Ruvalcaba syndrome is an overgrowth syndrome / hamartomatous polyposis condition with an increased risk of benign and malignant tumours; other overgrowth syndromes at (known) risk of tumourigenesis are : Beckwith-Weideman syndrome Sotos syndrome (cerebral gigantism), Hemihyperplasia (hemihypertrophy), and Simpson Golabi Behemel syndrome Phenotype and clinics onset in chilhood (in contrast with Cowden disease , although an allelic disorder, see below); more often found in male patients (lower penetrance in female patients). - overgrowth at birth (postnatal growth decelerates). - macrocephaly - hypotonia and mental deficiency - subcutaneous and visceral lipomas and hemangiomas, and intestinal juvenile polyposis.

57. 1917 Molecular Definition Of Del (2) (q14.1q21) In A Patient Molecular definition of del (2) (q14.1q21) in a patient with a Marfanoid body habitus,early features reminiscent of sotos syndrome and an attention deficit http://www.faseb.org/genetics/ashg99/f1917.htm

58. Untitled Program Nr 2140 No evidence for PTEN mutations as a common cause ofsotos syndrome or autosomal dominant macrocephaly. S. Tomkins http://www.faseb.org/genetics/ashg00/f2140.htm

59. CancerGene ARA267 Cole TR;Rahman N NSD1 mutations are the major cause of sotos syndrome and occurin some cases of Weaver syndrome but are rare in other overgrowth phenotypes. http://caroll.vjf.cnrs.fr/cancergene/CG1830.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol Aliases Name androgen receptor-associated coregulator 267; hypothetical protein FLJ22263 similar to nuclear receptor-binding SET-domain protein 1 Locus OMIM GDB SwissProt LocusLink Atlas of Genetics and Cytogenetics in Oncology and Haematology : Class TRANSLOC Keywords NSD gene family; PHD-finger motif; SET domain; transcriptional intermediary factor Diseases Leukemia, Myelocytic, Acute Comments The proteins of the NSD gene family [NSD1, NSD2 ( CG:971 ) , and NSD3 ( CG:1991 )] are highly similar within a block of about 700 amino acids. This block contains several conserved domains, such as the SET domain and the PHD finger, present in proteins involved in development and/or chromatin reorganization. First to be isolated was the murine Nsd1 ( UI:98292459 GenBank:AF064553 ) in a search for proteins that interact with the ligand-binding domain of retinoic acid receptor alpha (RARA, CG:158 ). NSD1, a novel 2588 amino acid mouse nuclear protein interacts directly with the ligand-binding domain (LBD) of several nuclear receptors (NRs). In addition to the conserved domains (a SET domain and multiple PHD fingers) found in both positive and negative Drosophila chromosomal regulators, NSD1 contains two distinct NR interaction domains, NID-L and NID+L, that exhibit binding properties of NIDs found in NR corepressors and coactivators, respectively. The human homologue of the mouse Nsd1 gene was isolated by Jaju et al. (2001

60. Health Library - Sotos Syndrome TOLL FREE. sotos syndrome. Self Help Clearinghouse. sotos syndrome SupportAssociation. International network. Founded 1984 http://hvlib.integris-health.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc

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