81. Mapping A Gene For Noonan Syndrome To The Long Arm Of Chromosome 12 - Nature Gen noonan syndrome is characterized by typical facies, short stature and congenital cardiac These data imply that a gene for noonan syndrome is located on http://www.nature.com/ng/journal/v8/n4/abs/ng1294-357.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 Article Nature Genetics doi:10.1038/ng1294-357 Mapping a gene for Noonan syndrome to the long arm of chromosome 12 C. Ruth Jamieson , Ineke van der Burgt , Angela F. Brady , Margo van Reen , Madiha M. Elsawi , Frans Hol , Steve Jeffery , Michael A. Patton Medical Genetics Unit, St George's Hospital Medical School, Cranmer Terrace, London SW17 ORE, UK Department of Human Genetics, University Hospital Nijmegen, Geert Grooteplein 20, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands Correspondence should be addressed to M.A.P. Noonan syndrome is characterized by typical facies, short stature and congenital cardiac defects. Approximately half of all cases are sporadic, but autosomal dominant inheritance with variable expression is well established. We have performed a genome-wide linkage analysis in a large Dutch kindred with autosomal dominant Noonan syndrome, and localized the Noonan syndrome gene to chromosome 12 (Z max =4.04 at

82. Kprones NoonanID10085 The prevalence of noonan syndrome has not been determined accurately to date. Fetal loss occurs for noonan syndrome so disease incidence is higher than http://www.infobiogen.fr/services/chromcancer/Kprones/NoonanID10085.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Noonan syndrome Identity Other names Male Turner syndrome Pseudo-Turner syndrome Inheritance Noonan syndrome is an autosomal dominant disorder. Rare cases with parental consanguinity have been described, but it is not clear that these represent true instances of autosomal recessive inheritance. Like many autosomal dominant disorders, a significant, but not precisely determined, percentage of cases represent de novo mutagenesis. The prevalence of Noonan syndrome has not been determined accurately to date. Most authors cite the figure of 1 in 1,000-2,500 live births. However, that estimate was not based on a population study. Fetal loss occurs for Noonan syndrome so disease incidence is higher than prevalence, but no estimate of the magnitude of this discrepancy is available. Clinics Phenotype and clinics Noonan syndrome is a clinically variable developmental disorder defined by short stature, facial dysmorphism and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, down-slanting palpebral fissures, ptosis, high-arched palate and low-set, posteriorly rotated ears. Cardiovascular abnormalities, primarily pulmonic stenosis and hypertrophic cardiomyopathy, are present in up to 85% of affected individuals. Additional relatively frequent features are multiple skeletal defects (spine and chest), webbed neck, mental retardation, cryptorchidism and bleeding diathesis.

83. A Clinical Study Of Noonan Syndrome -- Sharland Et Al. 67 (2): 178 -- Archives O Clinical details are presented on 151 individuals with noonan syndrome (83 The mean age at diagnosis of noonan syndrome in this group was 9.0 years. http://adc.bmjjournals.com/cgi/content/abstract/archdischild;67/2/178

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted ... Citation Map Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Sharland, M Articles by Paton, M. PAPERS A clinical study of Noonan syndrome M Sharland, M Burch, WM McKenna and MA Paton St George's Hospital Medical School, London, Tooting. Clinical details are presented on 151 individuals with Noonan syndrome (83 males and 68 females, mean age 12.6 years). Polyhydramnios complicated 33% of affected pregnancies. The commonest cardiac lesions were pulmonary stenosis (62%), and hypertrophic cardiomyopathy (20%), with a normal

84. Noonan Syndrome: Definition And Much More From Answers.com noonan syndromenoonan syndrome. Female pseudoTurner syndrome. Male Turner syndrome noonan syndrome/Pulmonary lymphangiectasia noonan syndrome/Pulmonary http://www.answers.com/topic/noonan-syndrome

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Diagnosis Medical WordNet Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping Noonan syndrome Diagnosis Noonan Syndrome What is Noonan syndrome? Noonan syndrome is a multifaceted condition characterized by a series of birth defects (congenital malformations) including short stature after birth (postnatal growth retardation), webbing of the neck (pterygium colli), caved-in chestbone (pectus excavatum), narrowing of the artery from the heart to the lungs (pulmonic stenosis) and, in boys, testes that do not descend normally into the scrotum (cryptorchidism). Why is it named Noonan syndrome? The accepted name of this disorder is Noonan syndrome. It is named after Dr. Jacqueline A. Noonan who in 1968 reported 19 cases with the condition including 17 with narrowing of the artery to the lungs (pulmonary stenosis). Twelve of Dr. Noonan's patients were male and 7 were female. Noonan was clearly not the first person to discover the condition that bears her name today. In 1883 Kobilinsky reported a young man with webbing of the neck and several other features suggestive of Noonan syndrome and in 1928 Weissenberg provided a full and unmistakable description of the disease. Noonan, in collaboration with D. A. Ehmke, rediscovered the condition and noted the association with pulmonic stenosis. (By all rights, the name of the disease should be Weissenberg syndrome and, if it is to bear Noonan's name, it should be Noonan-Ehmke syndrome. But the names of medical syndromes do not necessarily give credit where credit is historically due!)

85. Noonan, Syndrome : Sites Et Documents Francophones Translate this page Synonyme(s) MeSH Syndrome Noonan. Arborescence(s) du thesaurus MeSH contenant le mot-clé Noonan, syndrome noonan syndrome http://www.chu-rouen.fr/ssf/pathol/noonansyndrome.html

Noonan, syndrome Synonyme(s) CISMeF Noonan ; pseudo-turner, syndrome . Synonyme(s) MeSH Syndrome Noonan Arborescence(s) Noonan, syndrome Noonan syndrome maladies de la peau et du tissu conjonctif maladies de l'appareil locomoteur maladies et malformations congénitales, héréditaires et néonatales Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : patient Association Française du Syndrome de Noonan mots clés : France *Noonan, syndrome type : *association patients *forum et liste de diffusion patients Noonan, syndrome de [Par Dr Aymé S (Orphanet - INSERM SC 11). Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; signes de la maladie, autres sites internet, types de consultations adaptées, projets de recherche, associations et registres de patients ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 23/10/2003]. mots clés : conseil génétique maladies rares *Noonan, syndrome

86. Revista Do Hospital Das Clínicas - OBJECTIVE noonan syndrome is a multiple congenital anomaly syndrome, noonan syndrome (NS) is an autosomal dominant disorder comprising short stature, http://www.scielo.br/scielo.php?pid=S0041-87812003000100002&script=sci_arttext&t

87. Www.webring.org/cgi-bin/webring?home Ring=noonan noonan syndromenoonan syndrome is a genetic disorder that causes abnormal development of multiple noonan syndrome can be inherited in an autosomal dominant manner. http://www.webring.org/cgi-bin/webring?home&ring=noonan

88. Noonan Syndrome (Disease) - Detroit, Michigan noonan syndrome (Disease) courtesy of Henry Ford Health System of Detroit, Michigan. http://www.henryfordhealth.org/12802.cfm

3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Related Content Related Content Noonan syndrome (Disease) Pectus excavatum 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 And Risk 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 PTPN11, 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.

89. Noonan Syndrome - Patient UK Sources of information and / or support; noonan syndrome Society A UK group They have not been checked to see if noonan syndrome is included but these http://www.patient.co.uk/showdoc/457/

Noonan Syndrome Sources of information and / or support Noonan Syndrome Society A UK group offering support and information for families affected by Noonan syndrome. Further sources / More detailed information Some non-UK sites The following list popular non-UK health information sites, mainly from the US. They have not been checked to see if Noonan syndrome is included but these large sites are comprehensive. Non-UK disease / illness sites Non-UK self-help / support group sites Evidence Based Medicine For sites and information on Evidence Based Medicine. Searching Medline For information on Medline and how it is used to find detailed medical and health information. Sponsored links and adverts Patient UK has no control of the content of the following links. Inclusion does not imply endorsement by Patient UK. Health Related Books From Amazon - browse hundreds of books on health and disease. Also, worth a look... Related pages in Patient UK Patient Plus Noonan Syndrome Other - Useful resources Pictures, diagrams, photos, images, etc. Evidence based medicine Online textbooks and journals Guidelines ... Top of Page Further services Need an operation but on a waiting list ? Are you considering having it done privately but are not insured? Find the best prices for your operation Next of Kin . In an emergency, alerts paramedics with your vital medical or allergy information. Plus immediate contact with your family or next of kin.

90. Noonan Syndrome - Patient UK noonan syndrome Patient UK. A directory of UK health, disease, illness and related medical websites that provide patient information. http://www.patient.co.uk/showdoc/40001424/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Noonan Syndrome Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. There is webbing of the neck and different typical chest shapes, giving rise to its alternative name ’: Turner-like syndrome of males’:. However it is now recognised that females are affected by Noonan syndrome in equal proportion to males. Epidemiology It is inherited in an autosomal dominant manner. It affects at least 1 in 2,500 children. Some children do not have a parent with Noonan syndrome, reflecting the sporadic inheritance, presumably the result of a new mutation. Once the pattern of inheritance is identified, parents need counselling about recurrence risk with each pregnancy . Sporadic cases offer no increased risk to the next sibling. Offspring of affected individuals have 50% chance of developing Noonan syndrome. There are few associated fertility problems in females, therefore the mother is more commonly the transmitting parent.

91. Neurofibromatose-Noonan ( Syndrome) Fiches dinformations pratique sur le syndrome Neurofibromatosenoonan, description de la maladie, type(s) de consultations adapt©es, projets de recherche en cours, r©seaux de professionnels, association(s) de patients. http://www.orpha.net/static/FR/neurofibromatosenoonan.html

92. Noonan, Syndrome De Fiche dinformation pratique sur le syndrome de noonan, signes de la maladie, autres sites internet, types de consultations adapt©es, laboratoires de diagnostic, projets de recherche en cours, associations de patients. http://www.orpha.net/static/FR/noonan.html

Accès à la base de données Orphanet Noonan, syndrome de Accès direct aux détails Résumé Le syndrome de Noonan est une affection génétique associant une petite taille à des anomalies mineures. Les anomalies les plus typiques sont une sténose pulmonaire avec dysplasie des valves associée à une cardiomyopathie du ventricule gauche. Les patients présentent aussi une petite taille, un thorax en bouclier et des mamelons trop espacés. Les traits du visage sont grossiers, les oreilles implantées basses et orientées en arrière, le cou est court avec ou sans pterygium colli. Le traitement par l'hormone de croissance peut induire une croissance plus rapide mais ne modifiera pas la taille définitive chez la plupart des patients. Les cas familiaux montrent une hérédité autosomique dominante avec une prédominance de transmissions maternelles. Les cas sporadiques s'expliquent par des mutations de novo . Un gène de cette affection a été localisé sur le chromosome 12 . Des mutations du gène (Protein-Tyrosine Phosphatase, Nonrecepteur-Type, 11) sont retrouvées chez la moitié des malades environ. *Auteur : Equipe Editoriale d'Orphanet (septembre 2002)*. Signes de la maladie CHEVEUX LAINEUX/CREPUS/INCOIFFABLES FISTULE ARTERIO-VEINEUSE GENU VARUM HEMIPLEGIE / HEMIPARESIE HYPERREFLEXIE HYPERTELORISME OREILLE RONDE OREILLES BAS IMPLANTEES PEAU LACHE/EXCES DE PEAU (SAUF COU) PORENCEPHALIE / SCHIZENCEPHALIE RETARD PUBERTAIRE/HYPOGONADISME SCOLIOSE SOURCILS CLAIRSEMES/ABSENTS/FINS TROUBLES OCULOMOTEURS ARTERE PULMONAIRE STENOSE/HYPOPLASIE

93. Noonan France Association Fran§aise du syndrome de noonan. Informations, contacts et t©ï¿½moignages sur le syndrome de noonan. http://groups.msn.com/noonanfrance/

var nEditorialCatId = 96; MSN Home My MSN Hotmail Shopping ... Money Web Search: document.write(' Groups Groups Home My Groups Language ... Help Noonan France noonanfrance@groups.msn.com What's New Join Now Accueil Infos médicales ... Tools Association Française du Syndrome de Noonan Soyez les bienvenus dans la communauté Noonan France! Cet espace est mis à votre disposition par l'Association Française du Syndrome de Noonan pour vous permettre d'obtenir des informations, d'échanger vos expériences ou 'vider votre sac'. En attendant la réalisation de notre site Web (qui devrait être disponible en 2002), nous vous proposons de communiquer entre vous (et nous) grâce à cette communauté. Si vous ne connaissez pas l'AFSN et le Syndrome de Noonan, consultez nos pages d'informations générales. Et n'hésitez pas à nous contacter pour obtenir davantage d'infos ( afsn@club-internet.fr Pour tous nos habitués, vous pouvez poser des questions, lancer une discussion sur un thème particulier, faire des suggestions, ou publier des photos dans les rubriques 'Entre Nous' et 'Images'. Pour nous aider à faire vivre cette communauté, présentez-vous dans la rubrique 'Présentez vous', vous trouverez sûrement quelqu'un avec qui partager votre témoignage!

94. Archives Of NOONAN-SYNDROME@HOME.EASE.LSOFT.COM Archives of noonansyndrome@HOME.EASE.LSOFT.COM. The noonans syndrome Support Group, Inc. Search the archives Post to the list Join or leave the list http://home.ease.lsoft.com/archives/noonan-syndrome.html

List Archives Subscriber's Corner Server Archives List Archives List Management List Moderation Server Management Help ... Archive Search Archives of NOONAN-SYNDROME@HOME.EASE.LSOFT.COM The Noonans Syndrome Support Group, Inc. Search the archives Post to the list Join or leave the list (or change settings) Manage the list (list owners only) September 2005 August 2005 July 2005 June 2005 ... HOME.EASE.LSOFT.COM

95. BBC - Health - Conditions - Noonan's Syndrome A guide to noonan s syndrome. Dr Trisha Macnair. noonan s syndrome is an inherited disorder that may affect almost every system of the body. http://www.bbc.co.uk/health/conditions/noonan1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Noonan's syndrome Dr Trisha Macnair Noonan's syndrome is an inherited disorder that may affect almost every system of the body. In this article What causes the condition? What are the symptoms? How's it diagnosed and treated? Further help What causes the condition? The genetic problems have not yet been fully pinned down but in many cases appear related to a gene that codes for the nonreceptor protein, tyrosine phosphatase SHP-2. Noonan syndrome may result from excessive SHP-2 activity. Typical features include abnormalities of the heart. These are seen in more than two-thirds of cases and include hypertrophic obstructive cardiomyopathy (HOCM), narrowing of the pulmonary valve, and defects of the septum which divides the heart into chambers. What are the symptoms? Some children will have a short webbed neck with a 'trident' shaped hair line, and downward sloping eyes, drooping eyelids and low set ears. However, many children look quite normal. Height may be slightly below average and in about a third of cases there are mild learning difficulties (speech delay is a particular problem). Visual problems are common and include squint, short sightedness (myopia) and prominence of the eyes (proptosis). Many individuals with Noonan syndrome have striking blue or blue/green eyes.

96. BBC - Health - Ask The Doctor - Noonan's Syndrome A look at the different ways noonan s syndrome affects people. http://www.bbc.co.uk/health/ask_the_doctor/noonanssyndrome.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Noonan's syndrome I'm suffering from Noonan's syndrome. Could you give me information about this? Muhammad Dr Trisha Macnair responds Noonan's syndrome is an inherited condition caused by an abnormal gene on one of the chromosomes (the chromosomes themselves appear normal). It's estimated that Noonan's syndrome affects about one in every 1,000 newborn babies (boys and girls). Those with the condition may pass it on to their children (the chance of any one child being affected is about 50 per cent), or the syndrome may arise out of the blue in a family from a new mutation (this occurs in about one in four cases). It's not yet known how the genetic abnormality develops, and there's no cure. However, most of the complications can be treated by surgery or other therapies, and most people with Noonan's syndrome lead a very normal life. Every person is different There are a variety of different features, and every affected person is slightly different, with different features to different degrees. Many people look perfectly normal - their problems are hidden with no visible signs. Others show typical facial and body features of Noonan's syndrome.

97. Noonan, Syndrome - Syndrome Noonan HONsélect noonan, syndrome articles, sites web, images, http://www.hon.ch/HONselect/RareDiseases/FR/C05.660.207.690.html

InitBulle("navy","#F8F8F8","#000066",1); sites HONcode sites Web HONsélect News ... Images Chercher HONsélect Anglais Français Allemand Espagnol Portugais le mot la partie du mot dans les termes MeSH Information pour "Noonan, syndrome": Hiérarchie médicale et definition Articles médicaux Ressources du Web Images médicales Nouvelles médicales Conférences médicales Hiérarchie Anglais Français Allemand Espagnol Portugais Noonan, syndrome Définition: A multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM , multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS ), and some degree of MENTAL RETARDATION . The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. However, Noonan syndrome occurs in both males and females with a normal sex chromosome constitution (46,XX and 46,XY). NS1 is due to mutations at chromosome location 12q24.1, in PTPN11, a gene encoding the non-receptor type 11 PROTEIN TYROSINE PHOSPHATASE. LEOPARD SYNDROME , a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 (

98. Noonan's Syndrome - OhioHealth noonan s syndrome is an inherited disorder that causes abnormal development of many parts of the body. http://www.ohiohealth.com/healthreference/reference/4E90FA4D-7CC9-4F63-BA685ED8A

99. Log In Problems A 26year-old white man with noonan´s syndrome and a history of lifetime lymphedema had had bilateral orchiopexy for undescended testicles at the age of 12. http://www.medscape.com/viewarticle/410764

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100. Feeding Difficulties And Foregut Dysmotility In Noonan's Syndrome -- Shah Et Al. In noonan s syndrome, feeding problems appear to be the result of delayed Surface EGG from the children with noonan s syndrome showed a slower frequency http://adc.bmjjournals.com/cgi/content/full/81/1/28

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in ADC Online Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Shah, N Articles by Milla, P J Related Collections Gastro-esophageal reflux Stomach and duodenum Motility and visceral sensation Arch Dis Child 28-31 ( July ) Feeding difficulties and foregut dysmotility in Noonan's syndrome N Shah M Rodriguez D St Louis K Lindley P J Milla Great Ormond Street Hospital and Institute of Child Health, London WC1 1EH, UK Correspondence to: Dr Shah. Accepted 20 November 1998 Abstract Top Abstract Introduction Patients Methods Results Discussion References PURPOSE Noonan's syndrome is a common dysmorphic syndrome in which failure to thrive and gastrointestinal symptoms are frequent but poorly understood.

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