61. Abstract Dysmorphic features in 37 patients with the jacobsen syndrome. CSPerrotta1, A.Zingale 1, PD Grossfeld 2,C. Jones3A. Ragusa,4 and T. Mattina1. http://web.feccbologna.it/7_77.htm

ABSTRACT Dysmorphic features in 37 patients with the Jacobsen Syndrome. C.S.Perrotta , A. Zingale , P.D. Grossfeld ,C. Jones A. Ragusa, and T. Mattina Genetica Medica Dept. Pediatrics University of Catania Italy Institute of Molecular Medicine/Division of Pediatric Cardiology University of California, San Diego USA Molecular Genetics Unit, Genome Centre, Bart's and The London, QM School of Medicine, United Kingdom. Laboratorio di Patologia Genetica IRCCS Oasi M. SS. Troina A cohort of 107 patients with rearrangements of chromosome 11q, was ascertained through the European and American 11q support groups, physician referral, or directly by parental contact made available through the internet. 69 patients had full assessment of dysmorphic features of face, hands and feet. 37 patients with terminal deletion of chromosome region 11q (Jacobsen Syndrome) were selected within this group. Deletion breakpoints were mapped using Fluorescence in Situ Hybridization (FISH) of genomic DNA clones onto metaphase chromosomes from the patients, or using haplotype analysis of polymorphic microsatellite markers. Dysmorphological analysis included 75 features selected from face, hands and feet. All patients were assessed by a single medical geneticist, but photographs of face (front and sides), hands and feet were further evaluated by two medical geneticists.

62. Blackwell Synergy - Cookie Absent In jacobsen syndrome, CGG repeat expansion causes chromosome breakage at FRA11B,resulting in deletion of the distal part of the long arm of chromosome 11 http://www.blackwell-synergy.com/doi/abs/10.1046/j.1466-9218.2001.00013.x

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63. Blackwell Synergy - Cookie Absent 9p syndrome (OMIM 158170) and del(11)(q23q24) or jacobsen syndrome (OMIM region for calvarian suture anomalies in jacobsen syndrome was distal to http://www.blackwell-synergy.com/doi/abs/10.1111/j.1399-0004.2005.00438.x

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64. Rarelink.net - Diagnoselisten Jacobsen Syndrome Du er her Hjem Diagnoselisten jacobsen syndrome 11qsyndromet,Jacobsen syndrom; 11q deletion syndrome, jacobsen syndrome. http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=131

65. Rarelink.net - Diagnoselisten Jacobsen Syndrome (11q Deletion Du er her Hjem Diagnoselisten jacobsen syndrome (11q deletion syndrome) 11qsyndromet, Jacobsen syndrom; 11q deletion syndrome, jacobsen syndrome. http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=131&synonymId=269

66. Ucsu.colorado.edu/~biasca/jacobsens.html Congenital disorder Facts, Info, and Encyclopedia article(Click link for more info and facts about jacobsen syndrome) jacobsen syndrome (Clicklink for more info and facts about KarschNeugebauer syndrome) http://ucsu.colorado.edu/~biasca/jacobsens.html

67. Chromosome -- Facts, Info, And Encyclopedia Article (Click link for more info and facts about jacobsen syndrome) jacobsen syndrome,also called the terminal 11q deletion disorder. A very rare disorder. http://www.absoluteastronomy.com/encyclopedia/c/ch/chromosome.htm

Chromosome [Categories: Genetics] For information about chromosomes in (Click link for more info and facts about genetic algorithm) genetic algorithm s, see (Click link for more info and facts about Chromosome (genetic algorithm)) Chromosome (genetic algorithm) A chromosome (in (A native or inhabitant of Greece) Greek chroma = colour and soma = body) is, minimally, a very long, continuous piece of ((biochemistry) a long linear polymer found in the nucleus of a cell and formed from nucleotides and shaped like a double helix; associated with the transmission of genetic information) DNA , which contains many ((genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity) gene s, (Click link for more info and facts about regulatory element) regulatory element s and other intervening (Click link for more info and facts about nucleotide sequences) nucleotide sequences . In the chromosomes of (An organism with cells characteristic of all life forms except primitive microorganisms such as bacteria; i.e. an organism with `good' or membrane-bound nuclei in its cells)

68. Detailed Diagnostic Potential For CMA Version 4.0 147791, JBS, jacobsen syndrome, 11q24.3 deletion. 180200, RB1, Retinoblastoma,13q14 deletion. RB1. 603073, HPE5, Holoprosencephaly 5, 13q32.3 deletion http://www.bcmgeneticlabs.org/tests/cyto/cma-detailed-4.html

DETAILED DIAGNOSTIC POTENTIAL FOR CMA VERSION 4.0 Gene mutations or genomic rearrangements such as deletions or duplications less than 100kb in size will not be detected by this assay. In addition, this assay is not suitable to detect uniparental disomy, imprinting defects, or other epigenetic mutations. OMIM# Loci Abnormalites detected by CMA Cytogenetic Abnormalities Genes Subtelomeric deletion/duplication for all chromosome arms All subtelomeres exluding the short arm of the acrocentric chromosomes Aneuploidy for chromosomes 13,18, 21, X, and Y 1p36 deletion and/or duplication 1p36 deletion and /or duplication Nephronophthisis 2q13 homozygous deletion WHS Wolf-Hirschhorn syndrome 4p16.3 deletion Rieger syndrome 4q25 deletion CdCS Cri-du-Chat syndrome 5p15.2 deletion CdLS Cornelia de Lange syndrome 5p13.2 deletion NIPBL SOS Sotos syndrome 5q35 deletion CCD Cleidocranial dysplasia 6p21.1 deletion SCS Saethre-Chotzen syndrome 7p21.1 deletion TWIST GCPS Greig cephalopolysyndactyly syndrome 7p13 deletion WBS Williams-Beuren syndrome 7q11.2 deletion

69. Gene GC_JBS JBS (jacobsen syndrome) Entrez_Gene JBS 3719 jacobsen syndrome. Cards.GeneCards JBS Ensembl JBS CancerGene JBS Genatlas JBS http://www.infobiogen.fr/services/chromcancer/Genes_gc/GC_JBS.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... JBS Location Note Non-annotated gene. Preliminary data : if you wish to write this card, go to How to contribute External links Nomenclature Hugo JBS GDB JBS ... JBS 3719 Jacobsen syndrome Cards GeneCards JBS Ensembl JBS ... euGene Genomic and cartography GoldenPath JBS Ensembl JBS - [CytoView] ... Gene Seq [Map View - NCBI] OMIM Disease map [OMIM] HomoloGene JBS Gene and transcription Genbank [ SRS ] [ ENTREZ ] AceView JBS AceView - NCBI TRASER JBS Traser - Stanford Protein : pattern, domain, 3D structure Polymorphism : SNP, mutations, diseases OMIM [ map ] GENECLINICS SNP ... JBS [dbSNP-NCBI] SNP JBS [GeneSNPs - Utah] JBS [SNP - CSHL] JBS] [HGBASE - SRS] General knowledge Family Browser JBS [UCSC Family Browser] PubGene JBS Other databases Probes Probe JBS Related clones (RZPD - Berlin) PubMed Genes in title automatic search in PubMed REVIEW articles automatic search in PubMed Last year publications automatic search in PubMed BiblioGene - INIST Contributor(s) Written Dessen P., Le Minor S.

70. List Of Diseases Starting With J: Information From Answers.com JacksonWeiss syndrome; Jacobs syndrome; jacobsen syndrome; Jadassohn Lewandowskysyndrome; Jaffer Beighton syndrome; Jalili syndrome; Jancar syndrome http://www.answers.com/topic/list-of-diseases-starting-with-j

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Or search: - The Web - Images - News - Blogs - Shopping List of diseases starting with J Wikipedia List of diseases starting with J A list of diseases in the English wikipedia. A B C D ... I J K L M N ... Z Ja-Je Jackson-Weiss syndrome Jacobs syndrome Jacobsen syndrome Jadassohn Lewandowsky syndrome Jaffer Beighton syndrome Jalili syndrome Jancar syndrome Jankovic Rivera syndrome Jansen type metaphyseal chondrodysplasia Jansky-Bielschowsky disease Japanese encephalitis Jarcho-Levin syndrome Jejunal atresia Jensen syndrome Jequier Kozlowski skeletal dysplasia Jervell Lange-Nielsen syndrome Jeune syndrome situs inversus Jeune syndrome Jo Job syndrome Johanson Blizzard syndrome Johnson Hall Krous syndrome Johnson Munson syndrome Johnston Aarons Schelley syndrome Jones Hersh Yusk syndrome Jones syndrome Jorgenson Lenz syndrome Joseph disease Joubert syndrome bilateral chorioretinal coloboma Joubert syndrome Ju Juberg Hayward syndrome Juberg Marsidi syndrome Judge Misch Wright syndrome Jumping Frenchmen of Maine Jung Wolff Back Stahl syndrome Juvenile cataract cerebellar atrophy myopathy mental retardation Juvenile dermatomyositis Juvenile gastrointestinal polyposis Juvenile gout Juvenile hyaline fibromatosis Juvenile macular degeneration hypotrichosis Juvenile muscular atrophy of the distal upper limb Juvenile myoclonic epilepsy Juvenile nephronophthisis Juvenile rheumatoid arthritis Juvenile temporal arteritis This entry is from Wikipedia, the leading user-contributed encyclopedia. It may not have been reviewed by professional editors (see

71. OMIM Entry 602574 suggested that this locus may also be implicated in jacobsen syndrome, as a characteristic feature of jacobsen syndrome by Lee and Sciorra (1981), http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?602574

72. Cryo Bio System Assisted Reproduction Technologies DNA Micro PallisterKillian Syndrome. jacobsen syndrome. Multipe Exostoses II. Potocki-ShaferSyndrome Syndrome. WAGR Syndrome. Beckwith-Wiedemann Syndrome http://www.cryobiosystem-imv.com/PMA/prodnew8_pma.asp

cryopreservation A.R.T. gynecology fertility ... site map DNA micro-arrays Description Full range of DNA Micro-arrays for genomic testing in the field of Assisted Reproduction Technologies, and pre or post natal diagnosis: IMA - Infertility Micro-Array. Number of screened regions: 150 CMA - Constitutional Micro-Array. Number of screened regions: 480 HRM - High Resolution 1 Mb Micro-Array. Number of screened regions: 2700. Technical specifications Our micro-arrays generate a whole genome molecular profiling and allows quantification of chromosomal imbalances. Each micro-array contains the clones necessary for a complete screening covering: chromosomes involved in all major aneuploidies microdeletion syndromes: Smith-Magenis Syndrome Charcot-Marie-Tooth Disease Miller-Dieker Syndrome Rubinstein-Taybi Syndrome Prader-Willi Syndrome Angelman Syndrome Retinoblastoma Pallister-Killian Syndrome Jacobsen Syndrome Multipe Exostoses II Potocki-Shafer Syndrome Syndrome WAGR Syndrome Beckwith-Wiedemann Syndrome Langer-Giedion Syndrome William's Syndrome Cri du Chat Syndrome Wolf-Hirschhorn Syndrome Cornelia De Lange Syndrome telomeric regions (6 to 10 clones for each telomere).

73. Karger Publishers However, the majority of jacobsen syndrome patients however do not have theirbreakpoint at this location, but more distally on 11q (Michaelis et al., http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

74. Library Page Numbers 10 To 15 jacobsen syndrome, OMIM entry 2000 Partial deletion of long arm of chromosome11 del(11)(q24) in a patient presenting with behavioral disturbances Turgut http://www.chromodisorder.org/sytrix/card_list.php3?dbid=80&maxlist=10

75. Gail Anderson Stapleton, M.S., C.G.C. Gail serves on the board of the Down Syndrome Family Alliance of Greenville as well Terawaki H, and Chapman S. Prenatal Diagnosis of jacobsen syndrome. http://www.ggc.org/faculty/anderson.html

Gail Anderson Stapleton, M.S., C.G.C. Who to Contact Site Index Search GGC Website var MenuLinkedBy='AllWebMenus [4]', awmBN='622'; awmAltUrl=''; Associate Clinical Genetic Counselor B.S. (Biology), Furman University, Greenville, South Carolina, 1989 M.S. (Genetic Counseling), University of South Carolina, Columbia, SC, 1997 Gail has been with the Greenwood Genetic Center since 1989, first as a genetic caseworker and now as a genetic counselor. She works primarily in pediatrics and has a special interest in working with support groups. Gail serves on the board of the Down Syndrome Family Alliance of Greenville as well as the national 22q13 Deletion Syndrome Foundation. She coordinates and facilitates parent groups for Fragile X syndrome, Angelman syndrome, and Rett syndrome, and serves as facilitator for the Muscular Dystrophy Association's family network. Selected Publications Schwartz CE, May M, Huang T, Ledbetter D, Anderson G, Barker DF, Lubs HA, Arena F, and Stevenson RE. MRX8: An X-linked mental retardation condition with linkage to Xq21. Am J Med Genet, 43:467-474, 1992. Rogers RC and Anderson G.

76. Rarelink.net - Diagnoselisten Jacobsen Syndrom (11q Deletion Jacobsen syndrom (11q deletion syndrome) jacobsen syndrome; 11q deletionsyndrome, Jacobsens syndrom; 11qsyndromet, Jacobsen syndrom http://www.rarelink.dk/diagnosedetail.jsp?diagnoseId=131&synonymId=269

77. Rarelink.net - Diagnoselisten Jacobsen Syndrom jacobsen syndrome; 11q deletion syndrome, Jacobsens syndrom; 11qsyndromet,Jacobsen syndrom; 11q deletion syndrome, jacobsen syndrome. http://www.rarelink.dk/diagnosedetail.jsp?diagnoseId=131

78. PharmGKB Browse Genes By HGNC Symbol And Name Name jacobsen syndrome. JBTS1. Name Joubert syndrome 1. Literature AnnotationsAvailable. JMJ. Name jumonji homolog (mouse) http://www.pharmgkb.org/search/browse/genes.jsp?r=J

79. Identification Of FMR2, A Novel Gene Associated With The FRAXE CCG Repeat And Cp Physical linkage of the fragile site FRA11B and a jacobsen syndrome chromosomedeletion breakpoint in 11q23.3. Hum. Mol. Genet. 3, 21232130 (1994). http://www.nature.com/ng/journal/v13/n1/abs/ng0596-109.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics doi:10.1038/ng0596-109 Identification of a novel gene associated with the FRAXE CCG repeat and CpG island Yanghong Gu , Ying Shen , Richard A. Gibbs Department of Molecular and Human Genetics, Human Genome Center, Baylor College of Medicine, 902E, One Baylor Plaza, Houston, Texas 77030, USA Correspondence should be addressed to D.L.N. Five folate-sensitive fragile sites have been identi-fied at the molecular level to date . Each is characterized by an expanded and methylated trinucleotide repeat of CGG (CCG). Of the three X chromosome sites, FRAXA FRAXE and FRAXF , the former two are associated with mental retar-dation in their expanded forms. FRAXA expansion results in fragile X syndrome due to down regula-tion of expression of the gene, which carries the hypermutable CGG repeat in the 5' untranslated portion of its first exon

80. Interstitial Deletion Of Chromosome 11 (q22.3-q23.2) In A Boy With Mild Developm The fragile site at 11q23.3 (FRA11B) is linked to some jacobsen syndrome Localization of jacobsen syndrome breakpoints on a 40Mb physical map of distal http://jmg.bmjjournals.com/cgi/content/full/38/9/621

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend 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 Syrrou, M Articles by Fryns, J-P Related Collections Genetics J Med Genet 621-624 ( September ) Letters to the editor Interstitial deletion of chromosome 11 (q22.3-q23.2) in a boy with mild developmental delay M Syrrou, J-P Fryns Centre for Human Genetics, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium Correspondence to: Professor Fryns Introduction Top Introduction Case report Discussion References E DITOR Deletions of the terminal region of the long arm of chromosome 11 (bands 11q23.3-11q24) are associated with a clinically recognisable phenotype, also called Jacobsen syndrome (JS).

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