81. Noonan Syndrome (PTPN11 Sequence Analysis) - DNA Analysis noonan syndrome, PTPN11 Sequence Analysis, DNA Analysis. noonan syndrome rotated ears. noonan syndrome PTPN11 Sequence Analysis DNA ANALYSIS. http://www.bcmgeneticlabs.org/tests/dna/noonan.html

NOONAN SYNDROME Sequence Analysis DNA ANALYSIS Open Page in New Window Print This Page Return to Search Noonan Syndrome is an autosomal dominant disorder characterized by short stature, webbed neck and dysmorphic facial features including hypertelorism, downward slanting palpebral fissures and posteriorly rotated ears. A variety of congenital cardiac anomalies are also associated with Noonan Syndrome. Other manifestations include shield chest with pectus deformities, vertebral anomalies, bleeding diathesis and cryptorchidism in males. Noonan syndrome is genetically heterogeneous, with mutations in the gene accounting for approximately 50% of both familial and sporadic cases. The gene maps to chromosome 12q24.1 and encodes the non-receptor protein tyrosine phosphatase SHP-2. Diagnostic sequence analysis of coding region is available for patients with Noonan syndrome. Reasons For Referral: Confirmation of diagnosis of Noonan syndrome Prenatal diagnosis only if a familial mutation is identified Testing Methodology: The gene coding region which contains fifteen exons is amplified by PCR, and direct sequencing is performed in both the forward and reverse directions using automated fluorescence dideoxy sequencing methods in a capillary electrophoresis format.

82. :: Ez2Find :: Noonan Syndrome Guide noonan syndrome, Global Metasearch Any Language Guides, noonan syndrome. ez2Find Home Directory Health http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Noonan Syndrome Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides Noonan Syndrome ez2Find Home Directory Health Conditions and Diseases ... Genetic Disorders : Noonan Syndrome Related Categories Health: Conditions and Diseases: Rare Disorders Web Sites Birth Defects Foundation: Noonan Syndrome [Site Info] [Translate] [Open New Window] History of the Foundation's involvement with Noonan's. Printable booklet and newsletter. URL: http://www.birthdefects.co.uk/bdf_may01/pages/services/noonan_1.htm The CaF Directory [Site Info] [Translate] [Open New Window] A description of Noonan syndrome, its inheritance patterns and pre-natal diagnosing. URL: http://www.cafamily.org.uk/Direct/n33.html

83. BrainTalk Communities - Hydrocephalus/Noonan's Syndrome Hydrocephalus/Noonan s Syndrome. Hi, I m Darlene, 43, dx ed with Hydrocephalus at birth and shunted at 3 months. in 1983, I was diagnosed with noonan syndrome. http://brain.hastypastry.net/forums/showthread.php?t=1071

84. Noonan Syndrome noonan syndrome A Bibliography, Medical Dictionary, and Annotated Research Guide to Internet References (female pseudoTurner syndrome; male Turner syndrome http://www.icongrouponline.com/health/Noonan_Syndrome_Ph.html

ICON Health Publications Official Health Sourcebooks NOONAN SYNDROME A Bibliography, Medical Dictionary, and Annotated Research Guide to Internet References (female pseudo-Turner syndrome; male Turner syndrome; turner phenotype with normal chromosomes; Turner-like syndrome) P A P E R B A C K Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Electronic File *E-Book version sent via e-mail in 2 business days Pages Price $34.95(USD) ISBN Published Synopsis In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading." Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with Noonan syndrome is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to conduct medical research using the most advanced tools available and spending the least amount of time doing so. Related Conditions/Synonyms female pseudo-Turner syndrome; male Turner syndrome; turner phenotype with normal chromosomes; Turner-like syndrome

85. Health Library - noonan syndrome. NS. Disorder Subdivisions. None. General Discussion. noonan syndrome is a rare genetic disorder that is typically evident at birth (congenital). http://www.wellspan.org/library/healthguide/IllnessConditions/topic.asp?hwid=nor

86. Short Description Of Cell Lines. Pathology: Turner Syndrome/noonan Syndrome 1 *1 Version 4.200205, Short description of cell lines. Pathology Turner syndrome/noonan syndrome 1 *163950 OMIM record. By selecting 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...

87. Midirs Forum - Noonan Syndrome Forum Topic. Subject noonan syndrome. When 23/10/2001 085441. Author Vicky Ewins. . Subject noonan syndrome, Category Pregnancy. http://www.midirs.org/midirs/midfourm.nsf/Y12/3152F61A1687263B80256AEE002B75B6

On-Line Service Login Home About Services ... Forum Forum Topic Subject: Noonan Syndrome When: Author: Vicky Ewins back Respond to this Topic Forum Views Home Date Category Author ... All Subject: Noonan Syndrome Category: Pregnancy I am a second year midwifery student and am writing an assignment on pre natal screening, focussing on Noonan Syndrome. I would appreciate it if any one could suggest any resources to help me out. Thankyou... Topic Responses Noonan syndrome (Julie Frohlich 23/10/2001) terms and conditions contact us MIDIRS web site is provided for reference information only. MIDIRS is not responsible or liable for any diagnosis made by a user based on the content of the website. Although great care is taken to ensure reference information is both suitable and accurate,MIDIRS is not liable for the contents of any external internet sites referenced, nor does it endorse any commercial product or service mentioned or advised on any of these sites. Site by Merchant Technology Limited

88. VolunteerMatch - The Noonan Syndrome Support Group, Inc. We are a nonprofit support group that provides information about noonan syndrome.......The noonan syndrome Support Group, Inc. http://www.volunteermatch.org/orgs/org15029.html

June 2, 2004 The Noonan Syndrome Support Group, Inc. View Opportunities Mission Statement The Group is intended for people whose lives are touched by Noonan syndrome, and want to exchange experiences and hopes for our children with Noonan Syndrome. We offer support, networking and information to those affected, and to any associated professionals. We aim to create awareness among professionals and the public at large. One of our goals is to support research into the many aspects of this complex condition. Description We are a non-profit support group that provides information about Noonan syndrome. We publish a 1/4 news letter, and have a quarterly meeting each year. Opportunities There are currently no opportunities for this organization. Address P O Box 145 Upperco, MD 21155 US Contact Wanda Robinson (President) Phone Fax Email Website http://www.noonansyndrome.org Home Search Virtual ... For Corporations

89. CheatHouse.com - Noonan Syndrome. About A Genetic Disorder, Symptoms, Causes,imp It is equally present in both males and females(Gandy p.1). noonan syndrome affects 1 out of every 1,0002,500 live birt noonan syndrome. http://www.cheathouse.com/eview/27784-noonan-syndrome-about-a-genetic-disorder.h

Noonan Syndrome Formerly know in the medical world as Turner-like Syndrome, Noonan Syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. It is equally present in both males and females(Gandy p.1). Noonan Syndrome affects 1 out of every 1,000-2,500 live birt Noonan Syndrome. About a genetic disorder, symptoms, causes,impact,bibliography Note! The sentences in this essay are shuffled, making this essay unusable If you want to read the essay in it's original and proper state, click here. We use this page for our internal search engine, and it's not meant to be viewable. Biology Home Essays [LOGIN] ... 1995-2004, Loadstone

90. ORPHANET® : 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 : Dr S. Aymé (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

91. Noonan France Association Fran§aise du syndrome de noonan. Informations, contacts, t©moignages sur le syndrome de noonan. http://groups.msn.com/noonanfrance/_homepage.msnw?pgmarket=fr-fr

92. 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/neurofibromatose_noonan.html

93. Archives Of NOONAN-SYNDROME@HOME.EASE.LSOFT.COM Management Help Log off Archive Search. Archives of noonansyndrome@HOME.EASE.LSOFT.COM The noonans syndrome Support Group, Inc. 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) June 2004 May 2004 April 2004 March 2004 ... HOME.EASE.LSOFT.COM

94. Noonan, Syndrome : Arborescences MeSH Translate this page noonan, syndrome arborescences MeSH. Menu général CISMeF. Vous pouvez aussi consulter toutes les arborescences des mots clés http://www.chu-rouen.fr/navimesh/N/navinoonansyndrome.html

Noonan, syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF appareil locomoteur, maladies malformations appareil locomoteur malformations crâniofaciales crâniosynostose ... tumeur tissu conjonctif 07 janvier 2004 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

95. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page MALADIE noonan, syndrome de, CIM Q87.1, Le syndrome de noonan est une affection génétique associant une petite taille à des anomalies mineures. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=648

96. Noonan's Syndrome noonan s syndrome,. Print this article, (Jacqueline A. noonan, 20th century, American paediatrician), association of small stature http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/NOONANS SYNDROME

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Noonan's syndrome, (Jacqueline A. Noonan, 20th century, American paediatrician), association of small stature, failure to thrive in infancy, delayed puberty and facial dysmorphism, with a short neck, low hairline, and a flat shield-like chest. Inheritance is autosomal dominant. Radiologically, the features are nonspecific but include genu valgum, short fingers, syndactyly, kyphosis, scoliosis and Klippel Feil abnormalities. Cardiovascular anomalies are those of pulmonary stenosis and hypertrophic cardiomyopathy predominantly, although septal defects may also be demonstrated. There is a delayed bone age. See Noonans syndrome HC The Encyclopaedia of Medical Imaging Volume VII Contacts GE Healthcare Making Waves

97. Bbc.co.uk - Health - Conditions A-Z Noonan's Syndrome AZ Illnesses and Conditions. noonan s syndrome By Dr Trisha Macnair. noonan s syndrome is an inherited disorder which may affect almost every system of the body. http://www.bbc.co.uk/health/conditions/noonan.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index THURSDAY 3rd June 2004 Text only BBC Homepage Health Home Lifestyle Home ... Conditions QUICK GUIDE A-Z Children's Ailments IN-DEPTH Addictions Allergies Arthritis Asthma ... Help Like this page? Send it to a friend! A-Z Illnesses and Conditions Noonan's Syndrome By Dr Trisha Macnair Noonan's syndrome is an inherited disorder which may affect almost every system of the body. The genetic problems have not yet been fully pinned down but in many cases appear related to a gene which 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 2/3 cases and include Hypertrophic Obstructive Cardiomyopathy (HOCM), narrowing of the pulmonary valve, and defects of the septum which divides the heart into chambers. There is a short webbed neck with a 'trident' shaped hair line, and a characteristic facial appearance with downward sloping eyes, drooping eyelids and low set ears. However, many children look quite normal. Height may be slightly below average and in about 1 in 3 cases there are mild learning difficulties (speech delay is a particular problem).

98. Noonan's Syndrome Definition Of Noonan's Syndrome. What Is Noonan's Syndrome? Me Definition of noonan s syndrome in the Dictionary and Thesaurus. Provides examples from classic literature, search by definition of noonan s syndrome. http://www.thefreedictionary.com/Noonan's syndrome

Dictionaries: General Computing Medical Legal Encyclopedia Noonan's Syndrome Word: Word Starts with Ends with Definition Noun Noonan's syndrome - syndrome seen only in males; marked by short stature and lowset ears and subnormal fertility syndrome - a pattern of symptoms indicative of some disease Legend: Synonyms Related Words Antonyms Some words with "Noonan's Syndrome" in the definition: cervical disc syndrome cervical root syndrome Ekbom syndrome Gilles de la Tourette syndrome ... Tietze's syndrome Previous General Dictionary Browser Next Nook-shotten nookie nooks and crannies ... nopal Full Dictionary Browser Noodling (enc.) Noogata (enc.) Noogie (enc.) nook nook and cranny Nook-shotten nookie ... Nooksack (enc.) Nooksack (tribe) (enc.) Nooksack, Washington (enc.) nooky Noolbenger (enc.) Noological Noologist Noology Noon ... Noon (enc.) Noon of night Noon-flower Noonan, North Dakota (enc.) noonday Noonday, Texas (enc.) Noone (enc.) Noone, New Hampshire (enc.) Noongar (enc.) Noonien Soong (enc.) Nooning Noonshun Noonstead noontide ... Noor Inayat Khan (enc.) Noor Inyat Khan (enc.)

99. Noonan (syndrome De) syndrome. Symptômes Le synonyme de syndrome de Turner masculin ne s applique pas réellement au syndrome de noonan. http://www.vulgaris-medical.net/textn/noonan.html

Noonan (syndrome de) En anglais : Noonan's syndrome. Synonyme : syndrome de Turner masculin. Syndrome d'origine génétique dont la transmission se fait selon le mode dominant (voir ci-après) et se caractérisant par l'association de malformations, essentiellement d'un nanisme, une immobilisation du cou, des oreilles implantées basses et décollées, des malformations osseuses et dans certains cas un retard mental léger. Causes Cette maladie semble être d'origine génétique et pour certaines équipes médicales n'existerait pas de rapport avec le syndrome de Turner. La transmission du syndrome de Noonan se fait selon le mode dominant (il suffit que l'un des deux parents porte l'anomalie génétique pour que l'enfant présente la maladie). L'expression du syndrome de Noonan est très variable d'une familiale autre, d'un individu à l'autre et suivant l'âge de la personne atteinte. Symptômes Le synonyme de syndrome de Turner masculin ne s'applique pas réellement au syndrome de Noonan. En effet les symptômes que l'on décrit au cours de ce syndrome ne sont pas vraiment identiques à ceux du syndrome de Turner. Ainsi, les déformations thoraciques sont plus discrètes dans le syndrome de Noonan, le pterygium colli est plus rare. Le pterygium colli est le repli de peau simple ou multiple, le plus souvent bilatéral (des deux côtés), tendu dans la région du cou et plus précisément dans la zone allant de la mastoïde à l'acromion de chaque côté du rachis cervical (colonne vertébrale correspondant au cou). Le pterygium colli ressemble à une palmure s'étalant de la base des oreilles et recouvrant chaque épaule à la façon d'un éventail tronqué de chaque côté. Cette anomalie est rarement isolée, c'est ainsi qu'on la retrouve dans le torticolis congénital (dans certains cas seulement), dans le syndrome de Bonnevie-Ullrich, dans le syndrome de Klippel-Feil, dans le syndrome de Noonan, et dans le syndrome de Turner. La mastoïde est la saillie osseuse située à proximité de l'oreille, en arrière de celle-ci.

100. BabyCenter | Community: BBS - Chromosome Disorders | Noonan Syndrome My dd 20 months is dx with noonan Symdrome. She has many problems to face. I don t know anything about the syndrome, but I wanted to say HI! http://bbs.babycenter.com/board/baby/babyills/1378212/thread/1013346

var ACM, oPopup, oDefPopup, offsetTop=10, offsetLeft=10; You seem to have disabled JavaScript. To take full advantage of our site and functionality, we recommend you enable Javascript. How? Preconception Pregnancy Baby ... Chromosome disorders "Noonan Syndrome" Posts: Last Post: May 6, 2004, 6:00 AM (PDT) JOIN IN: See all Boards Create a new thread Add a message WATCHES: My watches Start watching this thread HOW TO: Getting started Community Guidelines Back to Chromosome disorders Messages First Last Author: ~3~tea+1 May 5, 2004 , 11:58 AM (PDT) Hello, I've been waiting for somewhere to post this, or find a place to post this. My dd- 20 months is dx with Noonan Symdrome. She has many problems to face. She has a heart defect ASD as well as "structure problems" of her heart, feeding problems (failure to thrive)-also found that board- she has ptosis(hooded eyelids), she has a webbed neck, she also has asthma (not completely dx yet, can't dx until older)also delayed tooth growth, and motor delay. She is a happy little girl, she is having surgery this summer to correct her heart.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 5     81-100 of 100    Back | 1  | 2  | 3  | 4  | 5