61. Sotos Syndrome Support Association: National Institute Of Neurological Disorders The National Institute of Neurological Disorders and Stroke (NINDS) is the leadingsupporter of biomedical research on disorders of the brain and nervous http://accessible.ninds.nih.gov/find_people/voluntary_orgs/volorg746.htm

Find People - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders Funding ... Jobs and Training You are here: Home Find People Voluntary Organizations Find People section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. At NINDS NINDS Staff Advisory Council Labs at NINDS Groups at NINDS Government Other NIH Institutes Government Resources Other related groups Organizations - you are in this section Professional Societies NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Content for this page Organization Contact Information Sotos Syndrome Support Association P.O. Box 4626 Wheaton, IL 60189 Tel: 888-246-7772 EMail: sssa@well.com http://www.well.com/user/sssa Description: Non-profit organization that offers an information clearinghouse and support network for families affected by Sotos Syndrome, or cerebral gigantism. Organizations such as this one may focus on information, research, fundraising, advocacy and awareness programs, rehabilitation, or patient support. They are not part of the Federal Government and they may not be tax-exempt.

62. Exploring Autism sotos syndrome — sotos syndrome is an overgrowth syndrome and should be Individuals with sotos syndrome usually have some degree of intellectual http://www.exploringautism.org/autism/evaluation.htm

What is Autism? Genetic Conditions Associated with Autistic Disorder Autistic disorder and other PDDs are due in large part to genetic factors. In some instances, autistic disorder is a feature of an identifiable genetic condition. More frequently, however, no underlying specific cause can be determined (this is called idiopathic autism, meaning autism of unknown cause). There is a great deal of evidence that idiopathic autism is caused by changes or "mutations" in genes. However, these genes have not yet been identified. An estimated 10 to 15 percent of individuals with autistic disorder have an identifiable genetic condition (Gillberg et al 1996; Rutter et al 1994). Recognizing a genetic condition is vital because it may alter treatment or therapy options. Diagnosing a genetic condition also enables health care providers to both estimate the chance of recurrence in other family members and discuss the availability of diagnostic testing for other family members. Numerous chromosome abnormalities have been reported in individuals with autism, most often involving chromosome 15 (specifically 15q11-q13, the Prader-Willi/Angelman syndrome region). Studies of individuals with idiopathic autism show the frequency of chromosome abnormalities to be less than 5 percent (Folstein et al 2001). Chromosome abnormalities may be passed from parent to child or can occur sporadically. A blood sample is all that is needed to create a karyotype for chromosome analysis. If a chromosome abnormality is identified, testing other family members is recommended. In some instances family members may be unaware that they have a chromosome abnormality because they carry a balanced rearrangement that produces no symptoms.

63. Engle Laboratory that include Kabuki makeup syndrome, sotos syndrome and mental retardation . Miyake N, Somer M, Matsumoto N. Familial sotos syndrome is caused by a http://www.childrenshospital.org/cfapps/research/data_admin/Site339/mainpageS339

Children's Hospital Research Children's Hospital Labs Engle Laboratory Engle Lab Home Page Eye disorders studied Genes identified Research Participation ... Hagit Baris Noriko Miyake Caroline Andrews Wai-Man (Jo) Chan Michelle Delisle Max Tischfield ... Contact Us Noriko Miyake, MD, PhD., Postdoctoral Fellow Noriko Miyake joined the Engle Lab as a postdoctoral fellow in April 2005. Noriko comes from Nagasaki, Japan where she obtained her MD from The Nagasaki University School of Medicine in March 1999. Following 3 years of clinical work, specializing in pediatrics, Noriko was a graduate student at the Nagasaki University Graduate School of Biomedical Sciences from April 2002-March 2005, working under the supervision of Prof. Noriko Niikawa and Prof. Hiroyuki Moriuchi. Her research examined the genetic basis of congenital abnormalities that include Kabuki make-up syndrome, Sotos syndrome and mental retardation. In the Engle lab, Noriko will be undertaking linkage analysis to identify genes that cause strabismus. Curriculum Vitae Education: April 2002- March 2005, Ph.D. degree, Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences

64. Journal Of Pediatric Hematology Oncology - UserLogin Cancer in sotos syndrome Report of a Patient With Acute Myelocytic sotos syndrome is a rare congenital disorder that is associated with various http://www.jpho-online.com/pt/re/jpho/fulltext.00043426-200403000-00013.htm

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65. Journal Of Pediatric Hematology Oncology - Abstract: Volume 26(3) March 2004 P 2 Cancer in sotos syndrome Report of a Patient With Acute Myelocytic Leukemia colon; sotos syndrome is a rare congenital disorder that is associated with http://www.jpho-online.com/pt/re/jpho/abstract.00043426-200403000-00013.htm

LWWOnline LOGIN eALERTS REGISTER ... Archive Cancer in Sotos Syndrome: Report... ARTICLE LINKS: Fulltext PDF (347 K) Cancer in Sotos Syndrome: Report of a Patient With Acute Myelocytic Leukemia and Review of the Literature. Journal of Pediatric Hematology/Oncology. 26(3):204-208, March 2004. Al-Mulla, Naima MD *++; Belgaumi, Asim F. MD *++; Teebi, Ahmad MD + Abstract: colon; Sotos syndrome is a rare congenital disorder that is associated with various malignancies, including acute lymphoblastic leukemia and lymphomas. The NSD1 gene haploinsufficiency is associated with this syndrome. The authors report a case of acute myeloid leukemia developing in a child with Sotos syndrome. He was treated with standard chemotherapy and achieved sustained remission. On review of the literature, it was found that most malignancies in Sotos syndrome occur in childhood. In conclusion, because of their increased risk of developing malignancy, patients with Sotos syndrome should be followed closely for signs and symptoms of both hematologic and nonhematologic malignancies, at least during childhood. Subscribe to RSS feed utrdc-pt01 Release 4.0

66. Sotos Syndrome Synonyms, Eastern Carolina sotos syndrome Synonyms University Health Systems of Eastern Carolina servestarboro, ahoskie, edento, winsor, maxhead, dear county, outebanks counties in http://www.uhseast.com/114275.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Information on diseases and health concerns, including symptoms, treatment options, and prevention. Sotos Syndrome Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Sotos Syndrome 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 Cerebral Gigantism Disorder Subdivisions None General Discussion Resources March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 Tel: (914)428-7100 Fax: (914)997-4763 Tel: (888)663-4637 TDD: (914)997-4764 Email: Askus@marchofdimes.com Internet: http://www.marchofdimes.com The Arc (a national organization on mental retardation) 1010 Wayne Ave Suite 650 Silver Spring, MD 20910 Tel: (301)565-3842 Fax: (301)565-3843 Tel: (800)433-5255 TDD: (817)277-0553 Email: info@thearc.org Internet: http://www.thearc.org/ Sotos Syndrome Support Association P.O. Box 4626

67. Sotos Syndrome, Eastern Carolina sotos syndrome University Health Systems of Eastern Carolina serves tarboro,ahoskie, edento, winsor, maxhead, dear county, outebanks counties in eastern http://www.uhseast.com/117789.cfm

Health News Health Library Health Topics Healthy Living ... Nutrition Self-Help Resources Information about national and local self-help organizations and support groups. Sotos Syndrome This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. Sotos Syndrome Support Association International network. Founded 1984. Provides information and mutual support for families of children with Sotos syndrome. Newsletter, information and referrals, phone support, pen pals, annual conferences. WRITE: SSSA 3 Danada Square, E. PMB Suite 235 Wheaton, IL 60187 CALL: 1-888-246-SSSA E-MAIL: sssa@well.com mysong@fone.net WEBSITE: http://www.well.com/user/sssa VERIFIED: 5/1/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

68. UniProtKB/Swiss-Prot Entry Q96L73 [NSD1_HUMAN] Histone-lysine N-methyltransferas NSD1 mutations are the major cause of sotos syndrome and occur in some cases Most cases of sotos syndrome are sporadic and may represent new dominant http://www.expasy.org/uniprot/Q96L73

ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) UniProtKB/Swiss-Prot entry Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers Entered in Swiss-Prot in Release 42, October 2003 Sequence was last modified in Release 42, October 2003 Annotations were last modified in Release 48, September 2005 Name and origin of the protein Protein name Histone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specific Synonyms EC H3-K36-HMTase H4-K20-HMTase Nuclear receptor binding SET domain containing protein 1 NR-binding SET domain containing protein Androgen receptor-associated coregulator 267 Gene name Name: Synonyms: From Homo sapiens (Human) TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND INTERACTION WITH AR.

69. Geneticalliance.org sotos syndrome Also known as Cerebral Gigantism Support Groups sotos syndromeSupport Association 3 Danada Square East, Suite 235 http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

70. IV SPECIFIC DISABILITIES (continued) sotos syndrome USA Support Association. sotos syndrome Support Association ofCanada (SSSAC) Association Canadienne d entraide du Syndrôme de Sotos (ACESS) http://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

71. Activ - Parent Portal - Syndromes And Conditions Syndromes and Conditions sotos syndrome. sotos syndrome. ASSOCIATED TERMSCerebral gigantism in childhood. CONTACT Association of Genetic Support of http://www.activ.asn.au/parentportal/syndromes_conditions.cfm?level=third_level&

72. Online And Offline Support: S Please note People with sotos syndrome have craniofacial anomalies that do not People served Individuals and families dealing with sotos syndrome http://www.widesmiles.org/support/s.html

S Scleroderma Please note: Scleroderma can affect any part of the body. The Scleroderma Research Foundation People Served: Individuals dealing with scleroderma Services provided: Networking, support, and advocacy Address: Pueblo Medical Commons, 2320 Bath Street, Suite 307, Santa Barbara CA 93105 Phone number: 1-800-441-CURE Email Address: srfcure@srfcure.org Website: http://www.srfcure.org/ United Scleroderma Foundation People Served: Individuals dealing with scleroderma Services provided: Offline: Conferences, Chapters and Support Groups, Literature, Online: links and chats on AOL Street Address: 734 E Lake Avenue, Suite 5, Watsonville CA 95077 Mailing Address: PO Box 399, Watsonville CA 95077 Phone number: 1-800-722-HOPE Email Address: outreach@scleroderma.com Website: http://www.scleroderma.com/ Septo-optic Dysplasia Please note: Septo-optic dysplasia can occur with craniofacial anomalies. Septo-optic Dysplasia Support Group People served: Individuals and families dealing with septo-opto dysplasia Services provided: Information, resources, email discussions, chats, and photo gallery Contact person: Cindy Rose Email address: roses8@impulsedata.net

73. Sotos Syndrome And Cutis Laxa -- Robertson And Bankier 36 (1): 51 -- Journal Of Keywords sotos syndrome; cutis laxa; vesicoureteric reflux sotos syndrome (cerebralgigantism, MIM 117550) is characterised by accelerated growth in http://jmg.bmjjournals.com/cgi/content/full/36/1/51

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract 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 ... Cited by other online articles PubMed PubMed Citation Articles by Robertson, S. P Articles by Bankier, A. Related Collections Genetics J Med Genet 51-56 ( January ) Sotos syndrome and cutis laxa Stephen P Robertson Agnes Bankier Victorian Clinical Genetics Service, 10th Floor, Royal Children's Hospital, Parkville, Victoria 3052, Australia Correspondence to: Dr Robertson. Received 8 April 1998 Revised version accepted for publication 29 May 1998 Abstract Top Abstract Introduction Case reports Discussion Note added in proof References Characteristics suggestive of connective tissue dysfunction have been described in Sotos syndrome and include joint hyperextensibility, pes planus, and a high arched palate. A variety of cutis laxa

74. Familial Sotos Syndrome Is Caused By A Novel 1 Bp Deletion Of The NSD1 Gene -- H Table 1 Clinical features of sotos syndrome in our two patients illustrates Familial sotos syndrome is rare and many of these diagnoses have even been http://jmg.bmjjournals.com/cgi/content/full/40/1/51

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract 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 ... Cited by other online articles PubMed PubMed Citation Articles by Matsumoto, N Related Collections Genetics Journal of Medical Genetics BMJ Publishing Group LETTER TO JMG Familial Sotos syndrome is caused by a novel 1 bp deletion of the gene N Kurotaki N Miyake M Somer and N Matsumoto Department of Paediatrics, University of Helsinki, Helsinki, Finland Department of Clinical Genetics, University of Helsinki, Helsinki, Finland Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan CREST, Science and Technology Corporation, Kawaguchi, Japan Medix Laboratories Ltd, Espoo, Finland and Institute of Medical Technology, University of Tampere and Tampere University Hospital, Finland

75. Mutations In The NSD1 Gene In Patients With Sotos Syndrome Associate With Endocr DESIGN Twentynine patients suspected of sotos syndrome were divided into twogroups patients with heterozygous deletions or mutations in the NSD1 gene http://www.eje-online.org/cgi/content/abstract/151/3/333

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: DOI: 10.1530/eje.0.1510333 This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by De Boer, L Articles by Wit, J. European Journal of Endocrinology, Vol 151, Issue 3, 333-341 Articles Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system L De Boer, HA Van Duyvenvoorde, EC Willemstein-Van Hove, CM Hoogerbrugge, J Van Doorn, JA Maassen, M Karperien, and JM Wit Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands. <0.001; IGF-II, P=0.02). Compared with control fibroblasts, only the mitogenic response was diminished (basal, P=0.07; IGF-I, P=0.04; IGF-II, P=0.04). A trend of higher IGFBP-3 secretion after IGF-I stimulation (P=0.09) and 3.5-5 times higher mRNA expression of IGFBP-3 in basal conditions was found in NSD1(+/-) fibroblasts in comparison to controls. CONCLUSIONS: NSD1(+/-) patients show endocrine and paracrine changes in the IGF system. These changes may contribute to the abnormal growth pattern. This article has been cited by other articles: A. J. Bannister, R. Schneider, F. A. Myers, A. W. Thorne, C. Crane-Robinson, and T. Kouzarides

76. Eur J Endocrinol -- Sign In Page http://www.eje-online.org/cgi/reprint/151/3/333

HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to European Journal of Endocrinology Online. PDF Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine... De Boer et al. Eur J Endocrinol. This Article Abstract Alert me when this article is cited Alert me if a correction is posted Services 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 De Boer, L Articles by Wit, J. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 24 hours for US$15.00 Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.

77. Blackwell Synergy - Cookie Absent sotos syndrome (SoS, MIM117550) is a childhood overgrowth syndrome that presents All the mutation positive patients exhibited classical sotos syndrome http://www.blackwell-synergy.com/doi/abs/10.1046/j.1529-8817.2004.00150.x

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78. BrainTalk Communities - Large Baby In Brazil Sotos Syndrome? Online patient support groups for healthcare and neurology. http://brain.hastypastry.net/forums/archive/index.php/t-62445.html

BrainTalk Communities Specific Neurological Conditions (M - Z) Overgrowth Syndrome PDA View Full Version : Large baby in Brazil Sotos Syndrome? Cecily 01-21-2005, 07:52 AM I just read in today's news about a baby boy having been born very recently in Brazil weighing 16.7 lbs. You do hear often about large babies being born to diabetic mothers, but in this case, I wonder whether an overgrowth syndrome such as Sotos Syndrome could possibly be involved. You never hear any specualtion about that angle. Cecily ~Pansy~ 01-21-2005, 07:08 PM I wonder whether an overgrowth syndrome such as Sotos Syndrome could possibly be involved. You never hear any specualtion about that angle. Cecily We quite possibly never hear speculation about that angle due to privacy reasons. But I'm with you, I too, wonder if Soto's or other syndrome is responsible for a baby this size. If so, I hope the family finds this forum and the SSSA support group.

79. Naohiro Kurotaki . Characterizationof breakpoints of deletions in sotos syndrome patients using......Project sotos syndrome and Genomic disorders. Project http://imgen.bcm.tmc.edu/molgen/lupski/kurotaki_naohiro.html

Naohiro Kurotaki Naohiro Kurotaki E-mail: kurotaki@bcm.tmc.edu Education: MD; Nagasaki University School of Medicine, 1992 Ph.D.: Graduate School of Medical Science, Nagasaki University School of Medicine, 2003. Project: Sotos syndrome and Genomic disorders. Project Description: Characterization of breakpoints of deletions in Sotos syndrome patients using fluorescence in situ hybridization and pulsed field gel electrophoresis. Evolutionary studies of low copy repeats (LCR) (segmental duplications) within chromosome 5q35. Selected Publications: Kurotaki N , Harada N, Yoshiura K-I, Kishino T, Sugano S, Niikawa N, Matsumoto N: Molecular characterization of a human homologue of the mouse gene. Gene 279: 197-204, 2001 Kurotaki N , Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita H-A, Kinoshita A, Mizuguchi T, Yoshiura K-I, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. Haploinsufficiency of the gene causes Sotos syndrome. Nat Genet 30: 365-366, 2002

80. OASIS Information & Referral : Service Program Records For The Keyword Sotos Syn Programs attached to keyword sotos syndrome. Select a letter from the list tofind matching keywords. A B C D E F G H I J K L M N O P R S T U V W Y. http://oasis.ouhsc.edu/Directory/_1k60wifnf.html

Programs attached to keyword Sotos Syndrome Select a letter from the list to find matching keywords A B C D ... Y

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