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Opitz Syndrome:     more books (17)

Opitz syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Lisa, MS, CGC Andres, 2005 Consider genetic disorder in some milder autism cases.(Child/Adolescent Psychiatry)(Smith-Lemli-Opitz syndrome ): An article from: Clinical Psychiatry News by Linda Little, 2005-08-01 Smith-Lemli-Opitz Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18 Consider SLOS in children presenting with autism.(Behavioral Pediatrics)(Smith-Lemli-Opitz syndrome ): An article from: Pediatric News by Linda Little, 2005-06-01 Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Jennifer, MS Wilson, 2005 Opitz: Rett Syndrome by JM OPITZ, 1986-10-01 The Man Behind the Syndrome by Peter Beighton, Greta Beighton, 1991-07-01 Anomalie de La Synthèse Du Cholestérol: Syndrome de Smith-Lemli-Opitz, Nanisme Létal Type Greenberg, Syndrome Child (French Edition) Consanguineous Marriages in the American Population by George B. Louis Arner, 2010-08-10 Anomalies and Curiosities of Medicine by George M. Gould, 2010-08-02 Anomalies and Curiosities of Medicine by George M. Gould, Walter L. Pyle, 2010-08-02 Anomalies and Curiosities of Medicine by George M. Gould, 2010-08-02 Anomalies and Curiosities of Medicine by George M. Gould, Walter L. Pyle, 2010-06-20

lists with details

41. Entrez-PubMed
    opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a secondlocus on 22q11.2. Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R  
    http://www.biomedcentral.com/pubmed/7493033
    
    Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Domain Links 3D Domain Links Genome Links ProbeSet Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links Show: Sort Author Journal Pub Date Text File Clipboard Order

42. Entrez-PubMed
    Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. opitz syndromemaps to at least two loci, one on Xp, the other on 22q11.2. MeSH Terms  
    http://www.biomedcentral.com/pubmed/8882786
    
    Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Domain Links 3D Domain Links Genome Links ProbeSet Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links Show: Sort Author Journal Pub Date Text File Clipboard Order This report is on a 14-month-old boy with manifestations of Opitz (G/BBB) syndrome in whom a 22q11.2 deletion was found. Deletion analysis was requested because of some findings in this patient reminiscent of velocardiofacial (VCF) syndrome. The extent of aspiration and of respiratory symptoms in this child is not usually seen in VCF syndrome. Opitz syndrome maps to at least two loci, one on Xp, the other on 22q11.2.

43. Smith, Lemli Et Opitz (syndrome De)
    Translate this page Smith, Lemli et Opitz (syndrome de). Voir également 13. En anglais Smith-Lemli-opitz syndrome. Synonyme syndrome RSH. Ensemble  
    http://www.vulgaris-medical.com/texts/smitopit.html
    
    Extractions: Smith, Lemli et Opitz (syndrome de) Voir également nanisme, microcéphalie, hypertélorisme, hypo-mandibulie, syndactylie, hypospadias, dermatoglyphe, Ulrich-Feichtigertypus rostockiensis, Patau (syndrome de) trisomie 13. En anglais : Smith-Lemli-Opitz syndrome. Synonyme : syndrome RSH. Ensemble de malformations dont le début est souvent intra-utérin (pendant la grossesse). Il s'agit d'une anomalie du métabolisme (fabrication) du cholestérol dont la mise en évidence a été récente. Cause Syndrome héréditaire dont la transmission se fait suivant le mode récessif autosomique (il est nécessaire que les deux parents portent l'anomalie génétique pour que l'enfant présente la maladie). Le gène défaillant pourrait être localisé sur le chromosome numéro 7. La cause actuellement avancée semble être un déficit en une enzyme, la 7-déhydro-cholestérol-delta-7 réductase, permettant la transformation du précurseur du cholestérol en cholestérol lui-même. Symptômes - Nanisme congénital (pendant la grossesse) harmonieux quant à ses proportions. - Ptôsis : affaissement de la paupière supérieure - Strabisme : défaut de parallélisme des yeux, s'accompagnant d'une déviation de l'un ou des deux yeux vers l'intérieur (strabisme convergent, couramment observé chez les petits-enfants) ou vers l'extérieur (strabisme divergent, touchant essentiellement l'enfant plus âgé et l'adulte). Une personne atteinte de strabisme louche.

44. Health Library - Opitz Syndrome
    opitz syndrome. International. Founded 1994.Support, encouragement, education, andsharing of successes and ideas for families affected by OpitzG/BBB Syndrome.  
    http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29o

45. Health Library - Opitz G/BBB Syndrome
    opitz syndrome. Disorder Subdivisions. General Discussion. Opitz G/BBB Syndromeor opitz syndrome is a genetic disorder that may be evident at birth.  
    http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

46. Health Library - Opitz Syndrome
    opitz syndrome. International. Founded 1994.Support, encouragement, education, andsharing of successes and ideas for families affected by OpitzG/BBB Syndrome.  
    http://www.laurushealth.com/library/healthguide/selfhelp/topic.asp?hwid=shc29opi

47. Health Library - Smith Lemli Opitz Syndrome
    Smith Lemli opitz syndrome. Synonyms Disorder Subdivisions General DiscussionResources SmithLemli-opitz syndrome is a hereditary developmental disorder.  
    http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

48. Workshop On Smith-Lemli-Opitz Syndrome - Office Of Rare Diseases
    Workshop on SmithLemli-opitz syndrome co-sponsored by the Officeof Rare Diseases at NIH. National Institute of Child Health and  
    http://rarediseases.info.nih.gov/news-reports/workshops/smith950926.html
    
    Extractions: Workshop on Smith-Lemli-Opitz Syndrome Workshop Description Workshop on Smith-Lemli-Opitz Syndrome, held September 26-27, 1995, sponsored by the National Institute of Child Health and Human Development (NICHD), and co-sponsored by the Office of Rare Diseases (ORD). Workshop Summary Participants in the workshop have established collaborative arrangements in pursuing their research interests. They have made plans to establish a registry for Smith-Lemli-Opitz syndrome to facilitate research in the various aspects of this disease. They will also continue a dialogue in an effort to establish a research protocol about the treatment of SLO. For additional information on this workshop, please contact Dr. Felix de la Cruz, Chief, MRDD, NICHD, 301-496-1383.

49. BENCHMARK Analysis Of Smith-Lemli-Opitz Syndrome
    Translate this page BENCHMARK analysis of Smith-Lemli-opitz syndrome, G2D Home. GO TO The numberindicates the strength of association to Smith-Lemli-opitz syndrome.  
    http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U6589

50. Opitz G/BBB Syndrome
    Support network for family members whose children have OpitzG/BBB syndrome.Category Health Conditions and Diseases opitz syndrome You have reached the website of of the Opitz G/BBB Family Network. For moreinformation on Opitz G/BBB syndrome and its challenges click to enter.  
    http://www.rkymtnhi.com/opitz/
    
    Extractions: Click: http://www.opitznet.org Logo was designed for our network specifically and is used under license of Karen G. Frandsen. You have reached the website of of the Opitz G/BBB Family Network. For more information on Opitz G/BBB syndrome and its challenges click to enter This is NOT the website of Dr. Opitz "We share your hopes and dreams, your ideas, your sadness, your happiness and your excitement in the tiniest accomplishments." email opitznet@mac.com pilartanoira@fibertel.com.ar para mas informacion Opitz G/BBB Family Network, Inc Nothing at this site is intended for diagnosis.

51. References For Smith-Lemli-Opitz Syndrome With The MeSH Term
    References for SmithLemli-opitz syndrome with the MeSH term Smith-Lemli-OpitzSyndrome, G2D Home. PMID and date. Follow the link  
    http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Smith-Lemli-Opitz_Sy

52. Smith-lemli-opitz, Syndrome : Sites Et Documents Francophones
    Translate this page Smith-lemli-opitz, Syndrome. Arborescence(s) du thesaurus MeSH contenant lemot-clé Smith-Lemli-Opitz, syndrome Smith-Lemli-opitz syndrome  
    http://www.chu-rouen.fr/ssf/pathol/smithlemliopitzsyndrome.html

53. 502 A Mouse Model For The Smith-Lemli-Opitz Syndrome (SLOS).
    Program Nr 502 A mouse model for the SmithLemli-opitz syndrome (SLOS).GS Tint 1,2 , H. Waage 3 , KK Sulik 3 , FF Moebius 4 , BU  
    http://www.faseb.org/genetics/ashg99/f502.htm

54. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details
    Study of SmithLemli-opitz syndrome. Opitz JM. RSH/SLO ( Smith-Lemli-Opitz ) syndromehistorical, genetic, and developmental considerations. Am J Med Genet.  
    http://www.clinicaltrials.gov/ct/gui/show/NCT00001721?order=6

55. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details
    Estimation of the Carrier Frequency and Incidence of SmithLemli-OpitzSyndrome in African Americans. Condition. Smith-Lemli-opitz syndrome.  
    http://www.clinicaltrials.gov/ct/gui/show/NCT00017732?order=34

56. Health Library - Smith Lemli Opitz Syndrome
    Smith Lemli opitz syndrome. Synonyms Disorder Subdivisions General DiscussionResources SmithLemli-opitz syndrome is a hereditary developmental disorder.  
    http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

57. DHCR7
    Translate this page Reference. CM004033, 1, ATGg-ATA, Met-Ile, Smith-Lemli-opitz syndrome,1. CM001121, 37, TGGt-TGA, Trp-Term, Smith-Lemli-opitz syndrome, 2. CM980542,  
    http://www.uwcm.ac.uk/uwcm/mg/ns/1/9835302.html
    
    Extractions: Number Codon Nucleotide Amino acid Phenotype Reference ATGg-ATA Met-Ile Smith-Lemli-Opitz syndrome TGGt-TGA Trp-Term Smith-Lemli-Opitz syndrome cCCC-TCC Pro-Ser Smith-Lemli-Opitz syndrome ATG-AGG Met-Arg Smith-Lemli-Opitz syndrome GAC-GTC Asp-Val Smith-Lemli-Opitz syndrome ACG-ATG Thr-Met Smith-Lemli-Opitz syndrome CTC-CCC Leu-Pro Smith-Lemli-Opitz syndrome CAGg-CAC Gln-His Smith-Lemli-Opitz syndrome CTT-CCT Leu-Pro Smith-Lemli-Opitz syndrome CAT-CTT His-Leu Smith-Lemli-Opitz syndrome GGC-GAC Gly-Asp Smith-Lemli-Opitz syndrome CTG-CGG Leu-Arg Smith-Lemli-Opitz syndrome gCAA-TAA Gln-Term Smith-Lemli-Opitz syndrome TGGc-TGA Trp-Term Smith-Lemli-Opitz syndrome TGG-TAG Trp-Term Smith-Lemli-Opitz syndrome ACG-AGG Thr-Arg Smith-Lemli-Opitz syndrome ACG-ATG Thr-Met Smith-Lemli-Opitz syndrome CTC-CCC Leu-Pro Smith-Lemli-Opitz syndrome gTTC-ATC Phe-Ile Smith-Lemli-Opitz syndrome TCG-TTG Ser-Leu Smith-Lemli-Opitz syndrome cGAC-CAC Asp-His Smith-Lemli-Opitz syndrome cTGG-CGG Trp-Arg Smith-Lemli-Opitz syndrome ATC-AAC Ile-Asn Smith-Lemli-Opitz syndrome CCA-CTA Pro-Leu Smith-Lemli-Opitz syndrome TGGt-TGC Trp-Cys Smith-Lemli-Opitz syndrome TGG-TTG Trp-Leu Smith-Lemli-Opitz syndrome TGC-TAC Cys-Tyr Smith-Lemli-Opitz syndrome cAAG-GAG Lys-Glu Smith-Lemli-Opitz syndrome TACa-TAA Tyr-Term Smith-Lemli-Opitz syndrome gCGC-TGC Arg-Cys Smith-Lemli-Opitz syndrome ?

58. Opitz Syndrome : Meddie Health Search
    (Rating 0.00 Votes 0) Rate It. National Library of Medicine OS Opitzsyndrome, the synonyms, a summary and a list of major features.  
    http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Op

59. Smith Lemli Opitz Syndrome : Meddie Health Search
    search options. Home Health Conditions and Diseases GeneticDisorders Smith Lemli opitz syndrome. ITEMS LINKS Emergency  
    http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Sm

60. LU:research - Lund University Institutional Archive
    Full text available as Title The opitz syndrome gene mid1 istranscribed from a human endogenous retroviral promoter. Authors  
    http://eprints.lub.lu.se/archive/00011532/
    
    Extractions: About UNSPECIFIED Journal article The opitz syndrome gene mid1 is transcribed from a human endogenous retroviral promoter. UNSPECIFIED Abstract is not available UNSPECIFIED link ISSN: 0737-4038 Yes Faculty of Medicine Department of Cell and Molecular Biology (CMB) Developmental Biology UNSPECIFIED UNSPECIFIED UNSPECIFIED Terry Fox Laboratory, British Columbia Cancer Agency, and Department of Medical Genetics, University of British Columbia, Vancouver, Canada. Department of Developmental Biology, Lund University, Sweden. Published Yes UNSPECIFIED UNSPECIFIED Mol Biol Evol 11 December 2002 Full text available as: Subjects: UNSPECIFIED Department: Faculty of Medicine Department of Cell and Molecular Biology (CMB) Developmental Biology LU:research is provided by Lund University Libraries, Head Office.

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