61. University Of Miami School Of Medicine - Glossary - Noonan Syndrome Diseases and Conditions. noonan syndrome. noonan syndrome. noonan syndrome AtA Glance. noonan syndrome is a characteristic constellation of birth defects. http://www.med.miami.edu/patients/glossary/art.asp?articlekey=6167

62. Living With Noonan Syndrome - Surgery Door Your Experiences of Living With noonan syndrome Surgery Door, The UK's LeadingOnline Health Service. To advertise Click here. noonan syndrome. noonan syndrome. http://www.surgerydoor.co.uk/level2/patexp_noonans.htm

To advertise Click here Today's Date Patient Experiences Noonan Syndrome Noonan Syndrome I am 20 years old . I was a prem. baby.. born by caesarean at 32 weeks. I was born with a hole in my heart, mild PS (which I still have), ptosis, strabismus. They didn't operate on my heart till I was 4 years old when they closed the ASD I had. I also had a series of operations for my squint and ptosis. It was 2 years ago now that NS started to become a familiar term when I was diagnosed in Belgium. We did not have a clue what this was but I set out to find out! I was in denial for a long time. It was then I found 2 support groups, one in the U.K and one in the USA, I am a regular contributor to the US support group who also run a list server where i am active in. Last year I was seen by the team at St George's Hospital in London, who confirmed my diagnosis as much as they could without a test. It was then really that it completely sunk in. On the medical reports it states that I have lots of the NS facial features, which I was quite unaware of. I also have scoliosis, lordosis, mild chest deformity (though only very mild), cubitus valgus (elbow deformity) ,poor muscle tone (especially in my tummy), poor co-ordination, long sightedness and short sightedness, anti-smooth muscle auto-antibodies, poor circulation, very curly dry hair and tendency to bleed (loads of nose-bleeding episodes!) I also have a slow gut motility.. which causes bowel problems.

63. Living With Noonan Syndrome - Surgery Door Your Experiences of Living With noonan syndrome Surgery Door, The UK's LeadingOnline Health Service. Patient Experiences. noonan syndrome. noonan syndrome. http://www.surgerydoor.co.uk/level2/patexp_noonans.shtml

Subscribe to the SurgeryDoor Newsletter Search: Tip: Try using OR to broaden your search e.g: Cartilage or joints Health Daily News Weather Top tips Health Events Diary ... Contact Us Medical Emergencies Medicine Cabinet Medical Conditions Diseases in Depth ... Research Your Health Sponsored Special Centres Pain Centre Skin Centre Children's Centre Healthy Living Dental Health Healthy Eyes Drugs Alcohol ... Dealing with Disability Complementary Medicine AtoZ of Complementary Medicine Travel health Vaccinations Traveller's Health Kit Message Boards Patient Experiences ... Health Links Shopping Health Multi-store Special Offers We subscribe to the HONcode principles of the Health On the Net Today's Date Patient Experiences Noonan Syndrome document.write(code);

64. 809 Metacarpophalangeal Pattern Profile (MCPP) Analysis Of Program Nr 809 Metacarpophalangeal pattern profile (MCPP) analysisof noonan syndrome. DD Gale 1 , GA Dahir 2 , FJ Meaney 3 , R http://www.faseb.org/genetics/ashg99/f809.htm

65. 765 Noonan Syndrome A Clinical And Genetic Study Of 31 Patients Program Nr 765 noonan syndrome a clinical and genetic study of 31patients. D. Bertola 1 , CA Kim 1 , SMM Sugayama 1 , LMJ Albano http://www.faseb.org/genetics/ashg99/f765.htm

66. Untitled 24 August 1997 noonan syndrome. Dear editors,. re Association between noonan syndromeand multiple cutaneous granular cell myoblastoma (Abrikosoff tumor). http://www.hum-molgen.de/clinical/24897-cpr.html

HUM-MOLGEN DIAGnostics/Clinical Research 24 August 1997 Noonan syndrome Dear editors, re: Association between Noonan syndrome and multiple cutaneous granular cell myoblastoma (Abrikosoff tumor). Some time ago, a boy with Noonan syndrome was referred to us. Recently, at age of six years, he develops multiple skin tumors. On histophathologic examination, all of them were diagnosed as cutaneous granular cell myoblastomas (Abrikosoff tumors). Lymphocyte chromosomes are normal. As the tumors were small, it was not possible to obtain viable or fresh frozen tumor material. Does anyone know about an association of Noonan syndrome and multiple Abrikosoff tumors? Dr. Dietmar Lohmann DR.Lohmann@uni-essen.de Institut fuer Humangenetik Hufelandstr. 55, Tel (49)201-723 4562 D-45122 Essen, Germany FAX (49)201-723 5900

67. 30997-ncpr HUMMOLGEN DIAGnostics/Clinical Research. 25 January 1998 noonan syndrome. Noonansyndrome has been mapped to 12q (Jamieson 1994, Nat.Genet. http://www.hum-molgen.de/clinical/25198-ncpr2.html

HUM-MOLGEN DIAGnostics/Clinical Research 25 January 1998 Noonan syndrome Hi, I am trying to seek clarification/perspectives on a set of disorders I have come across whilst looking for genetic disorder mapping to human 12q. Noonan syndrome has been mapped to 12q (Jamieson 1994, Nat.Genet. 8:357-360, but scouring through literature I have come across reports that suggest Noonan syndrome shares characteristics with Cardio-Facio-Cutaneous syndrome and LEOPARD syndrome, and some or all of these may represent manifestations of the same entity. Are there any views out there on this point. Also is there any evidence that any or all of these may be contiguos gene disorders caused by deletions taking out several genes, or conversely that these are single gene defects? Thanks for your help. David C. Hughes, PhD MRC Institute of Hearing Research, University Park, University of Nottingham, Nottingham UK davidh@ihr.mrc.ac.u k

68. Health Library - Noonan Syndrome Saint Luke's Health System eLibrary. noonan syndrome. noonan syndrome is arare genetic disorder that is typically evident at birth (congenital). http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h

69. Health Ency.: Disease: Noonan Syndrome noonan syndrome. Causes and Risks. noonan syndrome can be inherited in anautosomal dominant manner. It affects at least 1 in 2,500 children. http://www.accessatlanta.com/shared/health/adam/ency/article/001656.html

SEARCH: The Web Yellow Pages HOME AJC.COM Illustrated Health Encyclopedia Important notice Ency. home Disease N Noonan syndrome Overview Symptoms Treatment Prevention Alternative names: Turner-like syndrome of males Definition: A genetic syndrome 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 reminsicent of Turner syndrome, hence the former name Turner-like syndrome. Causes and Risks 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 i.e. presumably the occurence 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 not used because Noonan syndrome can affect females also.

70. GeneReviews: Noonan Syndrome Your browser does not support HTML frames so you must view noonan syndromein a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/noonan

Your browser does not support HTML frames so you must view Noonan Syndrome in a slightly less readable form. Please follow this link to do so.

71. Digilio MC, Marino B. Clinical Manifestations Of Noonan Syndrome. Images Paediat Invited article PDF(150K), Digilio MC, Marino B. Clinical manifestations of Noonansyndrome. MeSH, noonan syndrome, clinical genetics, heart defects, 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.

72. Analysis Of Noonan Syndrome-1 Analysis of noonan syndrome1, G2D Home. GO TO CHROMOSOMAL REGION Disease mappednoonan syndrome-1 Chromosome 12 Genomic position start-stop 116000001 http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U4903

73. Sindrome Noonan Syndrome Bambi Sindrome di Noonan noonan syndrome http//members.tripod.it/ermanno http//utenti.tripod.it/fmfpc/associaz.htmhttp//autismo.inews.it/condizioni.htm http//it http://fastnet.it/enti/bambi/sindrome-noonan.htm

Sindrome di Noonan Noonan Syndrome http://members.tripod.it/ermanno http://utenti.tripod.it/fmfpc/associaz.htm http://autismo.inews.it/condizioni.htm http://it.dir.yahoo.com/Medicina_e_salute/Patologie_e_malattie/Lista_complet a/Sindrome_di_Noonan/ http://www.noonansyndrome.org/ http://www.geocities.com/~noonansyndrome/ http://home.vicnet.net.au/~garyh/preemie_forum/messages/8845.html http://www.icondata.com/health/pedbase/files/NOONANSY.HTM ... http://www3.cardiol.br/abc/2000/7505/002.htm BAMBI -INFORMAZIONI SULLE MALATTIE RARE DEI BAMBINI- E' ON LINE DAL 1997 E-mail ruffelli@tin.it

74. AD HOC BIBLIO - INDEX SUJETS LETTRE N Compilé Le 14/01/03 National Co a; Growth hormone treatment in noonan syndrome TheNational Cooperative Growth Stu a; National Cooperative Growth http://www.cidg.com/~marienf/k/i/mid1n.htm

N Normalisation Nystagmus - FIN - Normalisation... Assessing motor deficits in neurological rehabilitation : patterns of instrument... [a] Towards an international consensus on definitions and standardised outcome measu... [a] N, N-Dimethylglycine... Effectiveness of N,N-Dimethylglycine in autism and pervasive developmental disor... [a] N-Acetylaspartate... N-Acetylaspartate: A predictor of outcome in neurorehabilitation.... [m] Naional Institutes of Health... Diagnosis and treatment of Attention Deficit Hyperactivity Disorder. NIH Consens... [a] Ritalin.... [a] Naltrexone... Behavioral and Naltrextone treatment of self-injurious behavior.... [a] Clinical analyse of Naltrexone in the treatment of self-injurious behaviour.... [a] Clinical analysis of Naltrexone in the treatment of self-injurious behavior.... [a] Effects of Naltrexone on self-injury, stereotypy, and social behavior of adults ... [a] Naltrexone : effects on motor function, speech and activities of daily living in... [a] Naltrexone improves learning and attention in self-injurious individuals with de... [a] Naltrexone improves severe posttraumatic abulia....

75. Noonan Syndrome... 1995 Translate this page Titre, noonan syndrome. Éditeur, Mac Keith Press. Lieu, San Diego. Date,1995. http://www.cidg.com/Filand/aw3/i/n/m004181.htm

# Mono.: M0004279)_ Cote MOUL Auteur O'Brien, Gregory Yule, William Titre Noonan syndrome Mac Keith Press Lieu San Diego Date Descripteurs Syndrome de Noonan Maladie osseuse

76. BBC Health - Ask The Doctor - Noonan Syndrome Q noonan syndrome I am suffering from Noonan's Syndrome. It's estimated that NoonanSyndrome affects about 1 in every 1000 newborn babies (boys and girls). http://www.bbc.co.uk/health/ask_doctor/noonan_syndrome.shtml

CATEGORIES TV RADIO COMMUNICATE ... INDEX SEARCH MONDAY 31st March 2003 Text only BBC Homepage Health Homepage Ask the Doctor ... Help Like this page? Send it to a friend! Ask the Doctor Q: Noonan Syndrome... I am suffering from Noonan's Syndrome. Kindly send me the main features of this. Muhammad Dr Trisha Macnair responds Noonan Syndrome is an inherited condition caused by an abnormal gene on one of the chromosome (the chromosomes themselves appear normal). It's estimated that Noonan Syndrome affects about 1 in every 1000 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%), or the syndrome may arise out of the blue in a family from a new mutation (this occurs in about 1 in 4 cases). It's not yet known how the genetic abnormality develops, and there is no cure. However, most of the complications can be treated by surgery or other therapies, and most people with Noonan 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 do show typical facial and body features of Noonan Syndrome.

77. Gene Stories - Health noonan syndrome Patient Profile by Michelle Ellis. I am 21 years oldand have noonan syndrome. I moved to Surrey just over 5 years http://www.bbc.co.uk/health/genes/disorders/case_studies/noonan/introduction.sht

Noonan Syndrome Patient Profile by Michelle Ellis I am 21 years old and have Noonan Syndrome. I moved to Surrey just over 5 years ago from Brussels, Belgium where I had lived all my life. There is no history of NS in my family, I am what is called a spontaneous mutation. NS occurs in about 1:1000 of the population. There are many features of NS. NS is characterised by specific facial features, short height and heart defects, however, many of the symptoms vary. The facial features - which include low and posteriorily rotated ears, wide spaced eyes, droopy eyelids, short neck and a broad forehead tend to change as the child grows older, and may seem less prominent. Around 60-80% of NS patients also suffer from a cardiac problem, the most common being pulmonary stenosis, ASD and VSD, however, almost all heart defects have been noted in NS. We also tend to be on the short side. Other symptoms can include feeding problems, bleeding problems, eye problems, learning difficulties, skeletal defects, and delayed development. There are many other symptoms/features that can be associated with NS. NS is diagnosed clinically, however, one of the NS genes has been identified. At present it is thought that this gene causes between 30-50% of NS cases, and I believe that they think there are at least 1 or 2 more genes that can cause it.

78. SAIDA, Noonan Syndrome noonan syndrome is a condition that can affect the heart, growth,and mental and physical development. It is generally recognized http://sunsite.wits.ac.za/saida/disorder/Noonan.html

Noonan syndrome is a condition that can affect the heart, growth, and mental and physical development. It is generally recognized by a heart valve defect present at birth, short stature, droopy and wide set eyes, and low set ears. Features that are often present include low hairline in the neck region, striking blue or grey eyes, curly hair, and chest deformities. Affected children may have behavioral and learning problems. The incidence is between 1 in 1000 to 2500 children. The Noonan Syndrome Support Group (NSSG) was founded in 1996 by Wanda Robinson in the USA. To visit their site click on wandar@bellatlantic.net . The South African representative of NSSG, Lucy Cinnamond, can be contacted at cinn@global.co.za . NSSG operates a list forum (discussion forum). If you would like to subscribe, and be a part of their family, send an e-mail to listserv@home.ease.lsoft.com with only the following command in the message body: subscribe noonan-syndrome (AOL subscribers also need to type a period "" in the subject line) Noonan's Syndrome Support Group Att: Mrs L Cinnamond P O Box 64216

79. Noonan Syndrome noonan syndrome. When People with noonan syndrome are usually rathersmall, they may have extra skin on the side of their neck. They http://www.med.nus.edu.sg/paed/cardiac/syndromes/noonan.htm

80. Noonan Syndrome noonan syndrome. Alternative names noonan syndrome can be inherited in anautosomal dominant manner. It affects at least 1 in 2,500 children. http://www.umm.edu/ency/article/001656.htm

Disease Nutrition Surgery Symptoms Injury ... Z Related Programs at UM Medical Center Maryland Heart Center Home Medical Reference Encyclopedia (English) Toggle English Spanish Noonan syndrome Overview Symptoms Treatment Prevention Definition: A genetic syndrome 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, i.e., 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 not used because Noonan syndrome can affect females also.

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