Analysis Of Jacobsen Syndrome Analysis of jacobsen syndrome, G2D Home. GO TO CHROMOSOMAL REGION Disease mapped jacobsen syndrome Chromosome 11 Genomic position startstop 128500000 http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U3719
References For Jacobsen Syndrome With The MeSH Term Psychomotor References for jacobsen syndrome with the MeSH term Psychomotor Disorders, G2D Home. PMID and date. Follow the link to see the corresponding entry by PubMed http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Psychomotor_Disorder
Extractions: Front Page Today's Digest Week in Review Email Updates ... Rare Disorders Jacobsen Syndrome (3 links) See Also: News about Jacobsen Syndrome New Cardiac Arrhythmia Syndrome Identified (June 1, 2004) full story Silence Of The Genes: Researchers Provide Unique View Of Inherited Disorders And Cancer (June 1, 2004) full story UW-Madison Scientists Find A Key To Cell Division (May 28, 2004) full story Vaccines Against Foodborne Disease On Horizon (May 25, 2004) full story Discovery Of Gene For Cornelia De Lange Syndrome Discovery May Lead To Prenatal Test For Debilitating Disorder (May 20, 2004) full story [ More news about Jacobsen Syndrome
Extractions: Front Page Today's Digest Week in Review Email Updates ... Rare Disorders Jacobsen Syndrome (3 links) See Also: News about Jacobsen Syndrome New Cardiac Arrhythmia Syndrome Identified (June 1, 2004) full story Silence Of The Genes: Researchers Provide Unique View Of Inherited Disorders And Cancer (June 1, 2004) full story UW-Madison Scientists Find A Key To Cell Division (May 28, 2004) full story Vaccines Against Foodborne Disease On Horizon (May 25, 2004) full story Discovery Of Gene For Cornelia De Lange Syndrome Discovery May Lead To Prenatal Test For Debilitating Disorder (May 20, 2004) full story [ More news about Jacobsen Syndrome
Jacobsen Syndrome From Linkspider UK Health Directory jacobsen syndrome by Linkspider UK, jacobsen syndrome links and jacobsen syndrome topics from our Health directory. Helping you http://linkspider.co.uk/Health/ConditionsandDiseases/RareDisorders/JacobsenSyndr
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Jacobsen Syndrome 19 February 1997. jacobsen syndrome. In other reports and reviews on jacobsen syndrome that I have come across there are no indications of any hearing loss. http://www.hum-molgen.de/clinical/19297-ncpr2.html
Extractions: 19 February 1997 Pivnik et al (J.Med Genet. 1996, 33:772-778) reported a case Jacobsen syndrome in whom a brain stem auditory evoked response indicated moderate bilateral hearing loss. In other reports and reviews on Jacobsen syndrome that I have come across there are no indications of any hearing loss. The possible explanations are a) that hearing loss is not a common feature of this disorder b) that moderate hearing loss has not been assessed in these patients or c) that hearing loss is secondary to the craniofacial abnormalities and varies according to the severity. I would appreciate any comments or information. David C. Hughes, MRC Institute of Hearing Research, University Park, University of Nottingham, Nottingham UK email: davidh@ihr.mrc.ac.uk
Extractions: Web Pages - ranked by popularity The Fragile WEB Site http://web.ukonline.co.uk/c.jones/contents.htm Includes a reference database, family support groups and clinical information. Institute of Child Health: Jacobsen Syndrome http://www.ich.ucl.ac.uk/units/mhu/fws/frames/jsoframe.htm Clinical synopsis, plus research summaries. Danny's 11q Information Page http://hometown.aol.com/deidran/danny.html A mother shares her son's story. Includes photos.
Extractions: GDB SwissProt LocusLink JBS Class DISORDER Diseases Abnormalities, Multiple; Eye Abnormalities; Hypothyroidism; Somatotropin/deficiency; Thrombocytopenia Comments Jones et al. (1995, PMID:7603564 ) have localized the fragile site FRA11B ( CG:554 ) to the p(CCG)n repeat of the CBL2 ( CG:139 ) proto-oncogene. A proportion of Jacobsen (11q-) syndrome patients inherited a chromosome carrying a CBL2 p(CCG)n expansion, which was truncated close to FRA11B. Recently, a possibility was raised that there may be other fragile sites in 11q23.3 in addition to FRA11B ( PMID:9508241 Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Laleye A;Delneste D;Pradier O;Hans C;Darboux R;Ogur G
MEDLINE For Gene 338 JO, Van Hemel JO;Eussen B;Wesbyvan Swaay E;Oostra BA Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of jacobsen syndrome. http://caroll.vjf.cnrs.fr/cgi-bin/Abin/Amedline.sh?&id=338
Health Conditions And Diseases Rare Disorders Jacobsen Syndrome support groups and clinical information. Institute of Child Health jacobsen syndrome Clinical synopsis, plus research summaries. http://www.pastconnect.com/odp/directory/Health/Conditions_and_Diseases/Rare_Dis
Extractions: Sponsored Links What are you looking for? the entire directory only in Rare_Disorders/Jacobsen_Syndrome Popular Categories Popular Searches Recent Categories Recent Searches ... Rare Disorders : Jacobsen Syndrome Top Web Sites: The Fragile WEB Site - Includes a reference database, family support groups and clinical information.
Birth Disorder Information Directory - J Jacobs Syndrome jacobs syndrome. jacobsen syndrome (JBS; Deletion/Distal/Monosomy 11q (Syndrome, Partial); Partial Monosomy of Long Arm of Chromosome 11) http://www.bdid.com/defectj.htm
Extractions: HOME Jabs Houk Bias Syndrome (Blau Syndrome, Blau Type Arthrocutaneouveal Granulomatosis, Synovitis Granulomatous Uveitis Cranial Neuropathies) Jackson Barr Syndrome (Deafness Conductive Ptosis Skeletal Anomalies) Jackson Weiss Syndrome (Craniosynostosis Midfacial Hypoplasia Foot Abnormalities; Acrocephalosyndactyly, Jackson Weiss Type) Jacobs Syndrome Jacobsen Syndrome (JBS; Deletion/Distal/Monosomy 11q[-] (Syndrome, Partial); Partial Monosomy of Long Arm of Chromosome 11) Jadassohn Lewandowsky Syndrome (Circumscribed Disseminated Keratosis Jadassohn Lewandowsky Type, Pachyonychia Congenita with Natal Teeth [Type I]) Jadassohn Nevus Phakomatosis Jaffe Campanacci Syndrome (Fibromatosis Multiple Non Ossifying) Jaffer Beighton Syndrome (Marfanoid Build Spondylolisthesis Constricted Pelvis) Jagell Holmgren Hofer Syndrome (Ichthyosis Alopecia Eclabion Ectropion Mental Retardation) jagell holmgren hofer syndrome ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION
FORMULAIRE INSCRIPTION RECHERCHE WWW.LACHAINETTE.COM Translate this page Contacts Maladie sélectionnée jacobsen syndrome de Id, Prenom, Pays, Web. 525, Annet, PAYS-BAS, http//www.11q.org. 1936, mireille, FRANCE, http://www.lachainette.com/ContactsPathologie.php?Action=contacter&Id=346
Extractions: Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [P Murphy] GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com