61. Virtual Children's Hospital: Neonatal Chest: Imaging For Respiratory Distress: N noonan syndrome/Pulmonary lymphangiectasia. noonan syndrome with pulmonary lymphangiectasia (lateral chest). Next Page Previous Page Title Page http://www.vh.org/pediatric/provider/radiology/respiratorydistress/62.html

Neonatal Chest: Imaging for Respiratory Distress Noonan syndrome/Pulmonary lymphangiectasia Simon C. Kao, M.D. Peer Review Status: Internally Peer Reviewed Noonan syndrome with pulmonary lymphangiectasia (AP) Noonan syndrome with pulmonary lymphangiectasia (lateral chest) Next Page Previous Page Title Page This information is written primarily for providers. See related Provider Textbooks about Radiology See related Provider Topics CT Scans Diagnostic Imaging Procedures and Therapies Pulmonary ... Radiology or X-Rays See related Patient Textbooks about Radiology See related Patient Topics Diagnostic Imaging Procedures and Therapies Radiology or X-Rays Virtual Children's Hospital Home Virtual Hospital Home Site Map ... University of Iowa http://www.vh.org/pediatric/provider/radiology/respiratorydistress/62.html

62. Noonan Syndrome (NS) Definition - Medical Dictionary Definitions Of Popular Medi Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=6445

63. HONselect - Noonan Syndrome Translate this page English, noonan syndrome, - Turner Syndrome, Male - Female Pseudo-Turner Syndrome Male Turner Syndrome. Français, Noonan, syndrome, - Syndrome Noonan http://www.hon.ch/HONselect/RareDiseases/C05.660.207.690.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Noonan Syndrome - Turner Syndrome, Male - Female Pseudo-Turner Syndrome - Turner's Syndrome, Male - Female Pseudo Turner Syndrome - Female Pseudo-Turner Syndromes - Male Turner Syndrome Français: Noonan, syndrome - Syndrome Noonan Deutsch: Noonan-Syndrom - Turner-Syndrom, männliches - Pseudo-Ulrich-Turner-Syndrom - Pseudo-Turner-Syndrom Español: Síndrome de Noonan - Síndrome de Turner Masculino Português: Síndrome de Noonan - Síndrome de Turner Masculina HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: No Web sites: English Yes Français Yes Deutsch No Español Yes Português No Home About us Site map Search ... Contact http://www.hon.ch/HONselect/RareDiseases/C05.660.207.690.html Last modified: Wed May 18 2005

64. The Noonan Syndrome Web Ring Sites that provide information about noonan syndrome and/or sites about families that are affected by noonan syndrome. http://b.webring.com/hub?ring=noonan

65. Noonan Syndrome noonan syndrome (NS), sometimes known as UllrichTurner syndrome, Therefore, the diagnosis of noonan syndrome must be made on its clinical features. http://home.coqui.net/myrna/noon.htm

Noonan Syndrome Noonan syndrome (NS), sometimes known as Ullrich-Turner syndrome, has an estimated incidence of 1/2500 to 1/1000 and may be the second most common syndrome with associated congenital heart disease (which affects < 80% of NS patients) after Down’s syndrome. Characteristic facies (including severe ptosis), pulmonary valve stenosis, and short stature ( <10th percentile) are features of this syndrome, as are undescended testis among males, coagulation abnormalities (with history of troublesome postoperative bleeding or easy bruising found in 65% of patients), and pectus carinatum/escavatum. Additionally, 20% of patients have hypertrophic cardiomyopathy. An interesting component of the syndrome is that birth weight is usually within the normal range, but subsequent growth (height and weight) and sexual development may be significantly retarded. Because the head circumference remains within normal range, the patient may appear to be macrocepahlic. Previously, an association was suggested between NS and mental deficits, but now is reportedly extremely rare. Consequently, the presence of mental retardation and NS signifies the need for careful chromosomal studies. Although NS is often an autosomal dominant disorder, the gene locus has not yet been mapped no the gene product identified. Therefore, the diagnosis of Noonan syndrome must be made on its clinical features. NS should be part of the differential diagnosis for children with short stature. The bleeding disorder, although undiagnosable as to specific etiology, might be a clue to the syndrome.

66. Birth Disorder Information Directory - N noonan syndrome (Female PseudoTurner Syndrome, Male Turner Syndrome, Turner Phenotype with Normal Karyotype). List of Sites http://www.bdid.com/defectn.htm

HOME N N-Acetylglutamate Synthetase Deficiency N-acetylglutamate synthetase deficiency HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY N5-Methylhomocysteine Transferase Deficiency See Methionine Synthase Deficiency NADH-CoQ Reductase Deficiency of (Complex I Mitochondrial Respiratory Chain, Deficiency of) COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF NADH-CoQ reductase Naegeli (Franceschetti Jadassohn) Syndrome NAEGELI SYNDROME Nager Syndrome See Acrofacial Dystenosis, Nager Type Naguib Richieri Costa Syndrome See Acro Fronto Facio Nasal Dysostosis Nail-Patella Syndrome (Fong Disease) List of Sites Najjar Syndrome See Cardiogenital Syndrome Nakajo Nishimura Syndrome (Amyotrophy Fat Tissue Anomaly) Amyotrophy fat tissue anomaly Nance Horan Syndrome (Cataract-Dental Syndrome; Cataract, X-Linked, with Hutchinsonian Teeth; Mesiodens-Cataract Syndrome) CATARACT-DENTAL SYNDROME Nance-Horan syndrome Nance Insley Syndrome (Chondrodystrophy with Sensorineural Deafness, Nance Sweeny Chondrodysplasia, Otospondylomegaepiphyseal Dysplasia) CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS Chondrodystrophy sensorineural deafness Nance Sweeny Chondrodysplasia See Nance Insley Syndrome Nanism Due to Growth Hormone Isolated Deficiency See Growth Hormone Deficiency Nanocephalic Dwarfism See Bird-Headed Dwarfism Nanophthalmia/Nanophthalmos Autosomal Recessive See Anophthalmia/Anophthalmos, Clinical

67. OMIM - NOONAN SYNDROME 1; NS1 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=163950

68. Entrez PubMed Abstract, noonan syndrome in a premature infant with hypertrophic Abstract, Prenatal DNA diagnosis of noonan syndrome in a fetus with massive hygroma http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?GeneratedBy=DermAtlas&cmd=search&d

69. Noonan Syndrome - Alegent Health Serving Eastern Nebraska And Southwest Iowa noonan syndrome courtesy of Alegent Health serving eastern Nebraska and southwest Iowa - Council Bluffs, Iowa - Corning, Iowa - Missouri Valley, http://www.alegent.com/13235.cfm

@import url(default.css); Back to Health Library Print This Page Email to a Friend Pectus excavatum Noonan syndrome Definition: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. In particular there is webbing of the neck and different shapes to the chest that are reminiscent of Turner syndrome, hence the former name Turner-like syndrome. Alternative Names: Turner-like syndrome of males Causes, incidence, and risk factors: Noonan syndrome can be inherited in an autosomal dominant manner. It affects at least 1 in 2,500 children. The fact that some children do not have a parent with Noonan syndrome likely reflects sporadic inheritance, that is, presumably the occurrence of a new mutation. The first specific gene that causes Noonan syndrome, called , was discovered in 2001. It is expected that other genes will be discovered that cause Noonan syndrome. Frequently seen abnormalities include webbing of the neck, changes in the sternum (usually a sunken chest called pectus excavatum), facial abnormalities, and congenital heart disease (especially pulmonic stenosis ). Because these abnormalities resemble those of Turner syndrome (which only affects females), Noonan syndrome used to be called "male Turner syndrome," this term is no longer used because Noonan syndrome can affect females also.

70. Noonan Syndrome noonan syndrome is a rare genetic disorder that is typically evident at birth (congenital). The disorder may be characterized by a wide spectrum of symptoms http://www.bchealthguide.org/kbase/nord/nord412.htm

var hwPrint=1;var hwDocHWID="nord412";var hwDocTitle="Noonan Syndrome";var hwRank="1";var hwSectionHWID="nord412-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Noonan Syndrome Important It is possible that the main title of the report Noonan Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Female Pseudo-Turner Syndrome Male Turner Syndrome Turner Phenotype with Normal Chromosomes (Karyotype) NS Disorder Subdivisions None General Discussion In some affected individuals, Noonan syndrome appears to result from spontaneous (sporadic) genetic changes (mutations). In others, the disorder may be transmitted as an autosomal dominant trait. Genetic analysis of one affected multigenerational family (kindred) suggests that the disorder may result from mutations of a gene located on the long arm (q) of chromosome 12 (12q24). However, many investigators indicate that Noonan syndrome may be caused by mutations of different genes (genetic heterogeneity). Resources Human Growth Foundation 997 Glen Cove Avenue Glen Head, NY 11545

71. HPCGG: Lab For Molecular Medicine PTPN11 Gene Test for noonan syndrome. Background noonan syndrome (NS) is an autosomal dominant, clinically heterogeneous disorder occurring in about 1 in http://www.hpcgg.org/LMM/comment/Noonan Info sheet.htm

Search www.hpcgg.org Search WWW Gene Test for Noonan Syndrome Background: Noonan syndrome (NS) is an autosomal dominant, clinically heterogeneous disorder occurring in about 1 in 1000-2500 live births (Schollen et al, 2003). It is characterized by short stature, distinct facial features, congenital heart disease, motor delay, learning difficulties or mild mental retardation, hearing loss, chest deformity, scoliosis, undescended testes, pubertal delay and varied coagulation defects and lymphatic dysplasias (www.GeneTests.org/Gene Reviews). Although these are common manifestations of the condition, this syndrome exhibits both inter- and intra familial variations. According to studies by Tartaglia et al (2001, 2002), mutations in the gene have been detected in about 30 - 50% of clinically diagnosed NS patients. All mutations reported thus far are missense exonic changes that have been found in exons 1, 2, 3, 4, 7, 8, 12, 13 and 14, with the majority clustering in exons 3 and 8 (80%). The prevalence of such mutations is higher in familial cases (50 %) than in sporadic cases (30%). Furthermore, the mutations co-segregate completely with the disease within all families (100% penetrance), although the expressivity is variable.

72. SupportPath.com: Noonan Syndrome SupportPath.com leads you to Internet resources for supportrelated information on hundreds of health, personal, and relationship topics. http://www.supportpath.com/sl_n/noonan_syndrome.htm

Noonan Syndrome Noonan Syndrome is a rare congenital disorder occuring in males and females. It is characterized by short staure, distinctive facial features, and a congenital heart defect (most often Pulmonary Stenosis - narrowing at the pulmonary artery valve). Also called: NS Other topics of interest on SupportPath.com: Infertility Learning Disabilities Turner Syndrome Rare Disorders ... here Online Communities / Message Boards... None Listed Online Chats... Note: Regularly scheduled chats are listed on our NEW Online Events Calendar Links in this section are primarily to chat rooms open 24/7 which may or may not be moderated. None Listed Usenet Groups... Note: Your browser must be properly configured to access Usenet groups from this site. None Listed Mailing Lists... Noonan Syndrome Mailing List Website: None. Description: To subscribe, send an e-mail to listserv@home.ease.lsoft.com with the following command in the message body: subscribe noonan-syndrome Date Added: 01/09/2002 National / International Organizations... The Noonan Syndrome Support Group, Inc.

73. Project: Positional Cloning Of The Gene For Noonan Syndrome And Assessing The Im Abstract, By linkage analysis a gene for noonan syndrome, an autosomal dominant entity with congenital heart defects, was mapped on chromosome 12q. http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1264281/toon

Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Project: Positional cloning of the gene for Noonan syndrome and assessing the importance of mutations in this gene for the etiology of congenital heart defects Print View Titel Positionele clonering van het gen voor Noonan syndroom en onderzoek naar mutaties daarin bij pati«nten met aangeboren hartafwijkingen Abstract By linkage analysis a gene for Noonan syndrome, an autosomal dominant entity with congenital heart defects, was mapped on chromosome 12q. Further fine-mapping is performed by linkage analysis in additional families. Contigs are constructed from YACs and cosmids overlapping the relevant region. To isolate the gene, individual clones are used as a probe to search for genomic abnormalities in patients. Also, candidate genes are selected from the region and subject to mutation detection procedures. Period Related organisations Secretariat: Department of Human Genetics (KUN) Related persons Project leader: Prof.dr. H.G. Brunner

74. Hill Health Topics A-Z - Noonan Syndrome noonan syndrome. National Organization for Rare Disorders. Important It is possible that the main title of the report noonan syndrome is not the name you http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord412&SE

75. Neurofibromatosis-Noonan Syndrome Or LEOPARD Syndrome? A Clinical Dilemma. Tullu J Postgrad Med, Online version this peerreviewed periodical, a publication of the Staff Society of Seth GS Medical College and KEM Hospital, India, http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2000;volume=46;issue=2

76. Digilio MC, Marino B. Clinical Manifestations Of Noonan Syndrome. Images Paediat The diagnosis of noonan syndrome is at present purely clinical, noonan syndrome is one of the most common genetic diseases associated with congenital http://www.health.gov.mt/impaedcard/issue/issue7/1930/1930.htm

Invited article Digilio MC, Marino B. Clinical manifestations of Noonan syndrome. Images Paediatr Cardiol 2001;7:19-30 MeSH Noonan syndrome clinical genetics heart defects, congenital genetic counselling Abstract Article Introduction Noonan syndrome is one of the most common genetic diseases associated with congenital heart defect, being second for frequency only to Down syndrome. The overall incidence of Noonan syndrome is believed to be between 1/1000 and 1/2000 livebirths. The syndrome was first recognized as a clinical entity in the sixties by Noonan and Ehmke, when they described several patients with pulmonary stenosis associated with characteristic facial anomalies, short stature, webbed neck, chest deformity and undescended testes. Pulmonary stenosis with or without dysplastic pulmonary valve and hypertrophic cardiomyopathy are the "classic" cardiac defects reported in Noonan syndrome, but atrial septal defect, atrioventricular septal defect, left-sided obstructive lesions, tetralogy of Fallot and patent ductus arteriosus have also been described. There is a wide range of variability in the phenotypical expression of Noonan syndrome, with some affected subjects having minimal features.

77. Noonan Syndrome - Washington DC noonan syndrome Washington Hospital Center is located in Washington DC. http://www.whcenter.org/15143.cfm

cddcodebase = "navtools/topmenu/";cddcodebase367050 = "navtools/topmenu/"; Article Manager Home Back to Health Library Print This Page ... Pectus excavatum Noonan syndrome Definition: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. In particular there is webbing of the neck and different shapes to the chest that are reminiscent of Turner syndrome, hence the former name Turner-like syndrome. Alternative Names: Turner-like syndrome of males Causes, incidence, and risk factors: Noonan syndrome can be inherited in an autosomal dominant manner. It affects at least 1 in 2,500 children. The fact that some children do not have a parent with Noonan syndrome likely reflects sporadic inheritance, that is, presumably the occurrence of a new mutation. The first specific gene that causes Noonan syndrome, called , was discovered in 2001. It is expected that other genes will be discovered that cause Noonan syndrome. Frequently seen abnormalities include webbing of the neck, changes in the sternum (usually a sunken chest called pectus excavatum), facial abnormalities, and congenital heart disease (especially pulmonic stenosis ). Because these abnormalities resemble those of Turner syndrome (which only affects females), Noonan syndrome used to be called "male Turner syndrome," this term is no longer used because Noonan syndrome can affect females also.

78. Short Description Of Cell Lines. Pathology: Turner Syndrome/noonan Syndrome 1 *1 Pathology Turner syndrome/noonan syndrome 1 *163950 OMIM record. By selecting the cell line name, you will receive the detailed description of the cell http://www.biotech.ist.unige.it/cldb/pat15.html

Version Short description of cell lines. Pathology: Turner syndrome/noonan syndrome 1 OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian lymphocyte GGB Detroit 525 ... By Beatrice...

79. Health Information Resource Database: Noonan Syndrome Support Group, Inc. Publications. noonan syndrome News, quarterly newsletter; Members have access to the most recent articles published on noonan syndrome. http://www.health.gov/NHIC/NHICScripts/Entry.cfm?HRCode=HR2560

80. HighWire -- Browse Journals - Noonan Syndrome Browse Journals publishing on noonan syndrome, (return to Topic List page) Journals focusing on noonan syndrome (in order by highest focus) http://highwire.stanford.edu/lists/topic_dir/608683/618131/624516/624891/624917/

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Noonan Syndrome: (return to Topic List page) Noonan Syndrome Sort by: Alphabet Frequency of articles in Noonan Syndrome Focus of journal on Noonan Syndrome What's this? Journals focusing on Noonan Syndrome (in order by highest focus) Journal of the American College of Cardiology info Pediatric Research info ... Connective Tissue Diseases Noonan Syndrome Home Adv. Search For Institutions For Publishers ... partners/suppliers

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