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Sotos Syndrome: more detail

The Official Parent's Sourcebook on Soto's Syndrome: Directory for the Internet Age by Icon Health Publications, 2005-01-31
Sotos syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Cindy, CGC Hunter, 2005
Sotos syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Cindy, CGC Hunter, 2005
Sotos Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
Sotos syndrome: A handbook for families by Rebecca Rae Anderson, 2000
Sotos Syndrome by John Ed. Anderson, 1999-01
The Physical Lincoln Complete by John G. Sotos, 2008-09-26
Consanguineous Marriages in the American Population by George B. Louis Arner, 2010-08-10
Anomalies And Curiosities Of Medicine- George M. Gould, A.M., M.D. by A.M., M.D. George M. Gould, 2010-02-17

lists with details

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

Extractions: Find People - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Home About NINDS Disorders Funding ... Jobs and Training You are here: Home Find People Voluntary Organizations 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 Organization Contact Information
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

Extractions: 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.
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

Extractions: 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:
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
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

Extractions: 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.
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
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

Extractions: Information about national and local self-help organizations and support groups. 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. International network. Founded 1984. 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
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

Extractions: 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) 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
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
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
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&
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

Extractions: S Scleroderma Please note: Scleroderma can affect any part of the body. The Scleroderma Research Foundation United Scleroderma Foundation 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
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

Extractions: 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 ) Stephen P Robertson Agnes Bankier Victorian Clinical Genetics Service, 10th Floor, Royal Children's Hospital, Parkville, Victoria 3052, Australia
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

Extractions: 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
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

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

Extractions: 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.
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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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

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

Extractions: 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
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

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