81. Nail-Patella Syndrome Topic - Unified Search Environment nailpatella syndrome Topic Tree nail-patella syndrome MSH/MH/D009261 DXP/DI/U001252 CSP/ET/0726-3953 MSH/PM/D009261 MSH/PM/D009261 http://www.use.hcn.com.au/portals/shared/subject.`Nail-Patella Syndrome`/home.ht

Nail-Patella Syndrome Topic Tree Definition: A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the patella and congenital nail dystrophy. It is a genetically determined autosomal dominant trait. Synonyms and Source Vocabularies: Nail-Patella Syndrome Osteo-Onychodysplasia, Hereditary Osterreicher Syndrome Pelvic Horn Syndrome Turner-Kieser Syndrome FONG SYNDROME Osteo-Onychodysplasias, Hereditary Congenital Abnormality Abnormalities, Drug-Induced Abnormalities, Multiple Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome Bloom Syndrome Cockayne Syndrome ... Congenital neurologic anomalies

82. Nail-patella Syndrome - Definition From Biology-Online.org Definition and other additional information on nailpatella syndrome fromBiology-Online.org dictionary. http://www.biology-online.org/dictionary/nail-patella_syndrome

Forum Tutorials Dictionary Directory ... N nail-patella syndrome nail-patella syndrome (Science: radiology) Fong syndrome hereditary arthrodysplasia , J.W. Turner syndrome autosomal dominant Features abnormal ... fingernails , absent/hypoplastic patella defects in radial head iliac horns bony ... processes along posterior surfaces of iliac bones ), discoloration of iris Search the dictionary About Us Contact Us Link to Us Chemistry ... Equations

83. Log In Problems This study reveals the occurrence of nailpatella syndrome in Saudi Arabia togetherwith the detection of abnormal attachment of lateral meniscus in the http://www.medscape.com/viewarticle/472317

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84. Congenital, Hereditary, And Neonatal Diseases And Abnormalities nailpatella syndrome and Glaucoma - Kellogg Eye Center. nail-patella syndromeWorldwide. About nail-patella syndrome C Ferensak. nail-patella syndrome http://www.mic.ki.se/Diseases/c16.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database -NOTE: info may be outdated!! [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [B Mertz] - Access Excellence GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com

85. Nail-patella Syndrome LMX1B transactivation and expression in nailpatella syndrome nail patellasyndrome a review of the phenotype aided by developmental biology http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=207

86. Nail-patella Syndrome - General Practice Notebook nailpatella syndrome. This is congenital nail disorder with an autosomal dominantinheritance in which the patellae and some of the nails, usually those of http://www.gpnotebook.co.uk/cache/-1389035487.htm

nail-patella syndrome This is congenital nail disorder with an autosomal dominant inheritance in which the patellae and some of the nails, usually those of the thumb, are rudimentary or absent. The iliac spines may also be underdeveloped. Click here for more information...

87. Nail-patella Syndrome - General Practice Notebook nailpatella syndrome Yellow nail syndrome Patient UK www.patient.co.uk/showd Koilonychia www.fpnotebook.com/DER1 nail Discoloration http://www.gpnotebook.co.uk/medwebpage.cfm?ID=-1389035487

88. Science News Online (7/4/98): Mice Help Nail Down Gene For Rare Syndrome Anyone with nailpatella syndrome should be tested for glaucoma. The eye disorderis still incurable, but some therapies slow its progression, http://www.sciencenews.org/pages/sn_arc98/7_4_98/fob3.htm

July 4 Mice help nail down gene for rare syndrome By J. Travis R andy L. Johnson is interested in how limbs form, so he wondered what would happen if mice lacked a gene related to one implicated in the development of chicken limbs. Much to Johnson's surprise, his studies of such mutant mice have led to the identification of the gene responsible for a rare human disorder called nail-patella syndrome (NPS). For more than a century, physicians have recognized this curious syndrome in which people have, to varying degrees, abnormal growth of fingernails, toenails, and knee caps, or patellae. At the extreme, people with NPS have no knee caps or nails whatsoever. Some 50 years ago, physicians linked kidney problems, often severe enough to require transplants, to the syndrome. Last year, investigators also noticed that people with the syndrome frequently have the eye disorder glaucoma. Scientists have been puzzled by this odd collection of symptoms and have even pondered whether more than one gene must be involved. At the Society for Developmental Biology meeting last week in Palo Alto, Calif., Johnson, who works at the University of Texas M.D. Anderson Cancer Center in Houston, explained how the findings on his mutant mice strongly indicate that a single gene is behind NPS. Some of his team's results are also described in the May Nature Genetics To create the mutant animals, the scientists deactivated both copies of a mouse gene called Lmx1b. It encodes a transcription factor, a DNA-binding protein regulating the activity of genes. The resulting mice, which survive less than a day after birth, lack patellae and nails. Further examination revealed kidney abnormalities as well.

89. Journal Of Pediatric Orthopaedics B - UserLogin nailpatella syndrome is a rare dysplasia characterized by a typical tetrad nail-patella syndrome, also known as hereditary onychosteodysplasia, http://www.jpo-b.com/pt/re/jpedorthob/fulltext.01202412-200301000-00002.htm

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90. MeSH-D Terms Associated To MeSH-C Term Nail-Patella Syndrome MeSHD terms associated to MeSH-C term nail-patella syndrome, G2D Home strength of the association of the corresponding term to nail-patella syndrome. http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Nail-Patella_Syndrome:unknown

91. Gene Linked To Inherited Glaucoma: 7/15/98 a rare inherited disease called nailpatella syndrome, the researchers found.People with nail-patella syndrome have malformed fingernails, toenails, http://news-service.stanford.edu/news/1998/july15/glaucoma715.html

Issue of July 15, 1998 Gene for rare syndrome linked to inherited glaucoma BY WILLIAM A. WELLS Scientists at Stanford and at the University of Michigan have identified a gene involved in some cases of inherited glaucoma. The same gene, called LMX1B, is responsible for a rare inherited disease called nail-patella syndrome, the researchers found. People with nail-patella syndrome have malformed fingernails, toenails, kneecaps and elbows. A significant number of them also have glaucoma. The new findings confirm the researchers' earlier proposal that the two sets of symptoms in these patients spring from the same genetic defect, said Dr. Douglas Vollrath, assistant professor of genetics. Vollrath is the first author of a research paper describing the new findings in the July issue of Human Molecular Genetics. Glaucoma is the second leading cause of blindness worldwide. In the United States it affects more than 2.5 million people, half of whom do not know they have the disease. Increased pressure in the eye is thought to destroy nerve cells in the eye, leading to glaucoma's characteristic patterns of vision loss. Although it appears that no single gene defect is responsible for most cases of glaucoma, scientists suspect that the disease usually is spurred by genetic components in addition to environmental effects.

92. Nail-patella Syndrome nailpatella syndrome, is a genetic disease of the connective tissue Patients who have nail-patella syndrome may show a variety of physical defects. http://www.rwjhamilton.org/Atoz/ency/nail-patella_syndrome.asp

Encyclopedia Index N Home Encyclopedia Encyclopedia Index N Nail-patella syndrome Definition Nail-patella syndrome, is a genetic disease of the connective tissue that produces defects in the fingernails, knee caps, and kidneys. Description Nail-patella syndrome is also known as Fong Disease, Hereditary Onycho-Osteodysplasia (H.O.O.D.), Iliac Horn Disease, and Turner-Kieser syndrome. Patients who have nail-patella syndrome may show a variety of physical defects. The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease. Less common medical findings include defects of the upper lip, the roof of the mouth, and unusual skeletal abnormalities. Skeletal abnormalities may include poorly developed scapulae (shoulder blades), sideways bent fingers (clinodactyly), clubfoot scoliosis , and unusual neck bones. There are also other effects, such as thickening of the basement membrane in the skin and of the tiny clusters of capillaries (glomeruli) in the kidney. Scientists have recognized an association between nail-patella syndrome and colon cancer . Nail-patella syndrome is associated with open-angle glaucoma , which, if untreated, may lead to blindness. Patients may also have

93. Nail-patella Syndrome nailpatella syndrome (NPS) is a rare genetic disorder that causes abnormalities of nail-patella syndrome is inherited as an autosomal dominant trait. http://www.arthritis-symptom.com/m-r/nail-patella-syndrome.htm

From the Consumer Health Information Network If you are not familiar with Cetyl Myristoleate for the treatment ofarthritis then you need to check out this site. Search Now: Find arthritis books, supplements and assitive care products at Amazon Iternet Safe Search arthritis-symptom.com Arthritis-store.com About Us Join our Arthritis discussion group Here Arthritis symptoms Rheumatoid arthritis ... Viox Lawyer Other Types of Arthritis A - C D - G H-L M-P ... Procedures MORE INFO Ankylosing Spondylitis Arthris Pain Fibromylgia Rheumatoid ... S Nail-Patella Syndrome Nail-Patella syndrome (NPS) is a rare genetic disorder that causes abnormalities of bone, joints, fingernails and kidneys. NPS is commonly characterized by absent or under-developed kneecaps and thumbnails. It is estimated to occur in one in 50,000 newborns. Information about Nail-Patella Syndrome Nail-patella syndrome (NPS) is a rare genetic disorder that is usually apparent at birth or during early childhood. Although the symptoms and physical characteristics associated with NPS may vary, characteristic abnormalities tend to include improper development (dysplasia) of the fingernails and toenails; absence (aplasia) and/or underdevelopment (hypoplasia) of the knee caps (patellae); underdevelopment of certain bones and/or webbing of skin at the bend of the elbow(s); and/or abnormal projections of bone from the upper (superior) portion of both sides of the hipbone (bilateral iliac horns).

94. Nail-Patella Syndrome nailpatella syndrome Medical.WebEnds.com. nail-patella syndrome.Osteo-Onychodysplasia, Hereditary; Osterreicher syndrome; Pelvic Horn syndrome; http://medical.webends.com/kw/Nail-Patella Syndrome

Medical.WebEnds.com - Medical Terminology Dictionary A B C D ... Z WWW Medical.WebEnds.com Nail-Patella Syndrome Osteo-Onychodysplasia, Hereditary; Osterreicher Syndrome; Pelvic Horn Syndrome; Turner-Kieser Syndrome; Hereditary Osteo-Onychodysplasia; Hereditary Osteo-Onychodysplasias; Nail Patella Syndrome; Osteo Onychodysplasia, Hereditary A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the patella and congenital nail dystrophy. It is a genetically determined autosomal dominant trait. Google links Processing time was 0.042185068130493 seconds.

95. Gleams: The GRF Newsletter | Glaucoma Research Foundation Q A Optic Nerve Cupping; Glaucoma and nail-patella syndrome People who havenail-patella syndrome are at higher risk for glaucoma and should be sure to http://www.glaucoma.org/news/gleams_win99.html

@import "/style/master.css"; @import "/style/sIFR-screen.css"; @import "/style/print.css"; Skip to main content. Glaucoma Research Foundation Donate Home ... How to Help Search this site Gleams: The GRF Newsletter We publish our free newsletter three times a year. It includes information about glaucoma, new treatments, updates on research findings, and more. Note: if you are outside the U.S., please sign up for the email version. If you're already subscribed to Gleams and just need to change your subscription address, or if you'd like to unsubscribe from Gleams , please use the Update Your Information form. Choose a Version Choose One: Email Print Contact Information First Name Last Name Address City State ZIP Country Choose a Country United States of America Canada Germany France United Kingdom India Afghanistan Albania Algeria American Samoa Andorra Angola Anguilla Antarctica Antigua and Barbuda Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia Bosnia and Herzeg owina Botswana Bouvet Island Brazil British Indian Ocean Territory Brunei Darussalam Bulgaria Burkina Faso Burundi Cambodia Cameroon Cape Verde Cayman Islands Central African Republic Chad Chile China Christmas Island Cocoa (Keeling) Islands Colombia Comoros Congo Cook Islands Costa Rica Cote Divoire Croatia (local name: Hrvatska) Cuba Cyprus Czech Republic Denmark Djibouti Dominica Dominican Republic East Timor Ecuador Egypt El Salvador Equatorial Guinea Eritrea Estonia Ethiopia Falkland Islands (Malvinas) Faroe Islands Fiji Finland

96. OMIM - NAIL-PATELLA SYNDROME; NPS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=161200

97. Functional Characterization Of LMX1B Mutations Associated With Nail-Patella Synd nailpatella syndrome (NPS) is an autosomal dominant disease characterized by EMSA, electrophoretic mobility shift analysis NPS, nail-patella syndrome http://www.pedresearch.org/cgi/content/abstract/57/6/783

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Published online before print March 17, 2005 This Article Full Text Full Text (PDF) All Versions of this Article: 01.PDR.0000157674.63621.2Cv1 most recent correspondence: Submit a response Alert me when this article is cited Alert me when correspondence are posted Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by SATO, U. Articles by IGARASHI, T. Pediatric Research International Pediatric Research Foundation, Inc. DOI: 10.1203/01.PDR.0000157674.63621.2C Functional Characterization of LMX1B Mutations Associated with Nail-Patella Syndrome UTAKO SATO SACHIKO KITANAKA TAKASHI SEKINE SHORI TAKAHASHI AKIRA ASHIDA and TAKASHI IGARASHI Department of Pediatrics [U.S., S.K., T.S., T.I.], Graduate School of Medicine, University of Tokyo, Tokyo 113-8655, Japan; Department of Pediatrics [S.T.], Nihon University School of Medicine, Tokyo 101-8309, Japan; and Department of Pediatrics [A.A.], Osaka Medical College, Osaka 569-8686, Japan Nail-patella syndrome (NPS) is an autosomal dominant disease characterized by dysplastic nails, absent or hypoplastic patellae

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