41. CP And Sotos Syndrome - BrainTalk Communities - Neurology Support Groups Author, Topic CP and sotos syndrome. sharlittig New Member Does anyone have BOTHCP and sotos syndrome? Any information would be helpful. Thanks! Sharon http://neuro-mancer.mgh.harvard.edu/ubb/Forum16/HTML/001182.html

Please read the FAQ page for our Terms of Service and answers to common technical questions. Please visit the Useful Websites page for websites relevant to this specific forum. You can add your own, too! By accessing this website, you acknowledge and agree to the terms of our Medical Dictionary PubMed Drug Information Chats ... Cerebral Palsy CP and Sotos Syndrome profile register preferences faq ... next oldest topic Author Topic: CP and Sotos Syndrome sharlittig New Member Posts: 4 From: Registered: Mar 2004 posted 03-11-2004 04:45 PM Hi, new to this site. Have many questions, but can't find answers. Does anyone have BOTH CP and Sotos Syndrome? Any information would be helpful. Thanks! Sharon IP: Logged All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Category: General Subjects General Neurology and Rare Disorders Forum Feedback Forum for Emotional Support Adoptive Parents of Special Needs Children Advocacy and Activism Anger Management Artistic Expression and Therapy Breast Cancer Bridging the Cultural Gap Caregiver Support Chatroom Feedback Chit-Chat Comic Relief Complementary and Alternative Medicine Complex Issues / Multiple Diagnoses Computers and Technology Coping with the Loss of Child Current Scientific Findings and Articles Disability Aids Domestic Abuse Educational and School Issues Featured Websites Food for Thought - Nutrition and Neurology Forget Me Not Garden of Memories Grief Infertility and Neurology

42. Health Library - support groups. sotos syndrome. Self Help Clearinghouse. sotos syndromeSupport Association. International network. Founded 1984 http://12.31.13.113/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29sot

43. Tobi's Links For Sotos Syndrome Tobi s Links for sotos syndrome. sotos syndrome Support Associationof Canada Enter The sotos syndrome Support Association Enter http://www.expage.com/page/tobi12

Tobi's Links for Sotos Syndrome Sotos Syndrome Support Association of Canada Enter The Sotos Syndrome Support Association Enter What is Sotos Syndrome Enter Sotos Syndrome Enter Sotos Syndrome Enter Visit my Specific Special Needs Site Enter Visit my Homepage Enter Sign Guestbook Read Guestbook This page has been accessed times.

44. Sotos Syndrome Support Association sotos syndrome Support Association. 3 Danada Square East Suite 235 Wheaton, IL601878484 Conditions sotos syndrome. Hours Answered MF, 9-5 Voicemail yes. http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Soto

45. 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-

46. Nature Publishing Group 4 pp 365 366 Haploinsufficiency of NSD1 causes sotos syndrome The results indicatethat haploinsufficiency of NSD1 is the major cause of sotos syndrome. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v30/n4/full/ng863.ht

47. Department Of Human Genetics - Clinical Laboratory And Patient Services sotos syndrome Testing. Thank you for your inquiry regarding NSD1 analysisfor individuals with a clinical diagnosis of sotos syndrome. http://genes.uchicago.edu/clinic/SotosTest.html

Clinical Laboratory Services Sotos Syndrome Testing Thank you for your inquiry regarding NSD1 analysis for individuals with a clinical diagnosis of Sotos syndrome. Microdeletions, identifiable by FISH analysis, and mutations of the NSD1 gene have recently been identified in patients with Sotos syndrome1,2. These preliminary findings suggest that about 77% of patients with a clinical diagnosis of Sotos syndrome have either a deletion or mutation in the NSD1 gene. We offer FISH analysis for NSD1 deletion detection, as well as full mutation analysis by DHPLC and targeted sequencing. Sample submission paperwork and instructions are included with this packet. Please, send a completed Childhood Overgrowth Questionnaire with each sample. Sample specifications FISH: 5 cc of blood in a green top/sodium heparin tube DHPLC: 7 cc of blood in a purple top/EDTA tube Turnaround time FISH: 12 days DHPLC: 6-8 weeks Cost FISH: $325 DHPLC: $2500 CPT codes FISH: 88230, 88271, 88291, 88273 DHPLC: 83891, 83898 (x10), 83903 (x10), 83904 (x2), 83912 * Once a mutation is identified, other family members can be tested for the same mutation for a fee of $390 per blood sample (CPT codes: 83891, 83898 x 2, 83894, 83912), and prenatal samples can be tested for a fee of $540 per sample (CPT codes: 83891, 83898 x 2, 83894, 83912, 88235-52).

48. CISE - Recherche syndrome de Sotos / sotos syndromeSupport Association of Canada. 1944 Dumfries Montréal (Québec), H3P 2R9. http://www.hsj.qc.ca/CISE/rech_101.asp?id_sujet=100339

49. Altered Insulin Sensitivity And Secretion In Sotos Syndrome Altered insulin sensitivity and secretion in sotos syndrome. S Nag 1, SMA Bennett 2 , J Gerrard 2 , M Walker 2 S Ball 1. 1 Department http://www.endocrine-abstracts.org/ea/0005/ea0005p97.htm

Endocrine Abstracts previous abstract next abstract Abstract Altered insulin sensitivity and secretion in sotos syndrome S Nag , SMA Bennett , J Gerrard , M Walker Department of Endocrinology, University of Newcastle, Newcastle upon Tyne; Department of Diabetes and Metabolism, University of Newcastle, Newcastle upon Tyne. Background: Sotos syndrome is an uncommon condition characterised by rapid growth, large body size and acromegaloid facies.There is limited data on metabolic abnormalities in Sotos syndrome. Aims: We investigated insulin sensitivity and secretion rates in a 22 year old girl with Sotos syndrome, prompted by the observation of a flat glucose response after an oral glucose challenge. Methods: Glucose tolerance was assessed with a 75g 2-h oral glucose tolerance test (OGTT), with paired samples for plasma glucose and insulin measured every 30-min. Insulin sensitivity was assessed during a 150-min euglycaemic hyperinsulinaemic clamp.Insulin secretion rates (ISR) were calculated from C-peptide kinetics during a stepped glucose infusion over 160-min. Results: The subject's BMI was 30.02 kg/m

50. Arquivos De Neuro-Psiquiatria - sotos syndrome (CEREBRAL GIGANTISM). Analysis of 8 cases. KEY WORDS Sotossyndrome, cerebral gigantism, macrocephaly, mental retardation. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000200009&l

51. Blackwell Synergy - Cookie Absent sotos syndrome associated with West syndrome and a visual disorder. However,he showed several symptoms suggesting sotos syndrome. http://www.blackwell-synergy.com/links/doi/10.1046/j.1442-200x.1999.01078.x/abs/

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

52. Blackwell Synergy - Cookie Absent Case report. Anaesthesia in a child with sotos syndrome. The key pointsin the management of anaesthesia in sotos syndrome are discussed. http://www.blackwell-synergy.com/links/doi/10.1046/j.1460-9592.2003.01158.x/abs/

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

53. Abstract ABSTRACT. Clinical sotos syndrome with del(5)(qter) detected by subtelomericFISH analysis. JMD Hahnemann 1 , B. Kassow 1 , K. Nielsen http://web.feccbologna.it/7_39.htm

ABSTRACT Clinical Sotos syndrome with del(5)(qter) detected by subtelomeric FISH analysis. J. M. D. Hahnemann , B. Kassow , K. Nielsen , L. Buchardt , P. Baekgaard and M. Dunoe Medical Genetics Laboratory Center, The John F. Kennedy Institute, Glostrup, Denmark Center of Children’s Neurology, Dept. Paediatrics, Glostrup University Hospital, Glostrup, Denmark Molecular Genetics Laboratory, Dept. Clinical Genetics, Rigshospitalet, Copenhagen, Denmark ponsible for this syndrome, NSD1, is located in 5q35. A real-time quantitative PCR approach subsequently confirmed that the deletion included exon 5 of the NSD1 gene. This is to our knowledge the first diagnosis of Sotos syndrome through subtelomeric FISH. Deletions of the whole NSD1 gene were originally reported by a Japanese group to be the most frequent type of mutation among persons with Sotos syndrome. Mapping of the size of the deletion by FISH is in progress. Authors Home Page Keywords Abstracts will be published by Elsevier (Annales de Génétique)

54. 27: Sotos Syndrome Is Cased By Haploinsufficiency Of The NSD1 Gene. sotos syndrome is cased by haploinsufficiency of the NSD1 gene. These results indicatethat haploinsufficiency of NSD1 is the major cause of sotos syndrome. http://www.faseb.org/genetics/ashg02s/f27.htm

Program Nr: 27 Sotos syndrome is cased by haploinsufficiency of the NSD1 gene. N. Kurotaki , N. Harada , N. Niikawa , N. Matsumoto 1) Dept Human Genetics, Nagasaki Univ Sch, Nagasaki, Japan; 2) CREST, Japan Science and Technology Corporation, Kawaguchi, Japan.

55. 29: Intragenic Mutations Of Program Nr 29 Intragenic mutations of NSD1 are a major cause of sotos syndromeand Weaver syndrome but do not account for other overgrowth phenotypes. http://www.faseb.org/genetics/ashg02s/f29.htm

are a major cause of Sotos syndrome and Weaver syndrome but do not account for other overgrowth phenotypes. Program Nr: 29 Intragenic mutations of are a major cause of Sotos syndrome and Weaver syndrome but do not account for other overgrowth phenotypes. N. Rahman , J. Douglas , S. Hanks , I.K. Temple , H.E. Hughes , T. Cole and The Childhood Overgrowth Consortium. 1) Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, England; 2) Dept of Medical Genetics, Southampton, UK; 3) Institute of Medical Genetics, Cardiff, UK; 4) Clinical Genetics Unit, Birmingham Womens Hospital, Birmingham UK. were reported to be the major cause of Sotos syndrome with intragenic mutations reported in a minority of cases. We have evaluated 76 cases of childhood overgrowth for mutations and deletions of . The cohort was phenotypically scored into three groups prior to the molecular analyses. Group 1 (38 cases) were typical of Sotos syndrome; Group 2 (12 cases) were Sotos-like but with some atypical features; Group 3 (19 cases) did not have Sotos syndrome. We also analysed 7 cases with Weaver syndrome. In total, we identified intragenic mutations whereas no Group 3 (non-Sotos overgrowth) individuals had mutations. Three individuals with Weaver syndrome had

56. Disease Directory : Sotos Syndrome Support Association Diseases Genetic Disorders Soto s Syndrome sotos syndrome SupportAssociation. Directory Listing. Title sotos syndrome Support http://www.diseasedirectory.net/detailed/10326.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Soto's Syndrome : Sotos Syndrome Support Association Directory Listing Title: Sotos Syndrome Support Association Description: Online community for education of professionals and families and to exchange ideas, gather research, and help one another cope. Quarterly newsletters, reference library, annual meetings, and conferences are available to members and professionals. Date Added: 2/4/2004 1:24:50 PM URL: http://www.well.com/user/sssa/

57. Disease Directory : Sotos Syndrome Support Association Of Canada Diseases Genetic Disorders Mannosidosis sotos syndrome SupportAssociation of Canada. Directory Listing. Title sotos syndrome http://www.diseasedirectory.net/detailed/10330.aspx

Wednesday, June 02, 2004 Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome ... Mannosidosis : Sotos Syndrome Support Association of Canada Directory Listing Title: Sotos Syndrome Support Association of Canada Description: Provides educational and emotional support, and current information. English and French. Date Added: 2/4/2004 1:24:50 PM URL: http://www.sssac.com

58. Mioti: Diseases + Conditions Diseases + Conditions sotos syndrome. Search Mioti NORD sotos syndrome. Informationfrom the National Organization for Rare Disorders. OMIM sotos syndrome. http://www.mioti.com/cat/condition/condition.asp?Cat=SotosSyndrome

59. JW Pediatrics And Adolescent Medicine -- Sign In Gene Deficiency Associated with sotos syndrome. A specific change in NSD1 was identifiedin 77% of the individuals with clinically diagnosed sotos syndrome. http://pediatrics.jwatch.org/cgi/content/full/2002/812/8

Physician-authored summaries and The New England Journal of Medicine Please sign in for full text All customers have full-text access to the Journal Watch publication(s) to which they have a subscription. Other registered users have access to Journal Watch Online content older than six months and may request e-mail notification of current contents. Subscribers and Registered Users User Name Password If you are a subscriber using Journal Watch Online for the first time you must activate and choose a password Remember my user name and password. Forgotten your password? If you do not use cookies sign in here (After you click the 'Sign In' button you may have to wait for several seconds. Thank you for your patience.) First-Time Users and Other Visitors To subscribe click here. If you would like free e-mail notification of current content and/or free access to all content older than 6 months register here If you would like full access to Journal Watch Online for 7 days for $19

60. Naohiro Kurotaki Characterization of breakpoints of deletions in sotos syndrome...... 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

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