61. Robinow Syndrome Website Results :: Linkspider UK robinow syndrome Websites from the Linkspider UK. robinow syndrome Directory.Complete Results for robinow syndrome Related Topics. http://www.linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Robino

Robinow Syndrome Websites from Linkspider UK Keyword: Robinow Syndrome Linkspider UK Directory Robinow Syndrome Search for Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Robinow Syndrome (4) Add URL Advertise Here! Personalize Amazon ... Weather See Also: Health: Conditions and Diseases: Rare Disorders Robinow Syndrome Foundation - Details about the organization as well as the disease. Includes general information, a survey, newsletter and photos. National Library of Medicine - The synonyms of Robinow syndrome, a summary and a list of major features. NORD - Robinow Syndrome - Offers a general discussion, the synonyms and further resources. Yahoo! Groups - A new email group for sharing and learning about Robinow syndrome. Join, post and read from this site.

62. Index 2000) and recessive robinow syndrome (Afzal et al. 2000) and mutations of MSX2and ALX4 in parietal foramina (Wilkie et al. 2000,Mavrogiannis et al. 2001). http://www.imm.ox.ac.uk/pages/research/clinical_genetics/one.htm

Andrew Wilkie Molecular genetics of craniofacial and limb malformation LABORATORY MEMBERS Steve Twigg Mike Oldridge Anne Goriely Stephen Robertson Lampros Mavrogiannis Rui Kan Shih-hsin Kan Ruth Hansen Indira Taylor See photograph About 1 in 40 babies is born with a serious congenital abnormality: in many cases, this is caused by alterations (mutations) in genes involved in the normal process of embryonic development. Many important malformations affect both the skull and limbs, suggesting that similar developmental processes are used to build these distinct structures. Our lab is investigating these processes by identifying the causative mutations in patients with skull and limb malformations. Such individuals frequently require corrective surgery and the group collaborates with the Department of Plastic Surgery in Oxford in the investigation of their patients. The work is mainly funded by the Wellcome Trust. We have extended the work on Apert syndrome to the study of other conditions with skull and/or limb malformations. Recent discoveries include the identification of mutations of ROR2 in brachydactyly type B (Oldridge et al. 2000) and recessive Robinow syndrome (Afzal et al. 2000) and mutations of MSX2 and ALX4 in parietal foramina (Wilkie et al. 2000,Mavrogiannis et al. 2001).

63. Ask Jeeves: Search Results For "Pictures Of Ambiguous Genitalia" http//education.pedschat.org/logs/ambigous/index.htm 8. robinow syndrome homepagerobinow syndrome homepage, Maurice van Steensel http//baserv.uci.kun.nl http://webster.directhit.com/webster/search.aspx?qry=Pictures Of Ambiguous Genit

64. Medicalseek - Search Engine For The Healthcare Industry Conditions and DiseasesGenetic Disordersrobinow syndrome National Library of MedicineThe synonyms of robinow syndrome, a summary and a list of major features http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders_Robinow_Syn

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Genetic Disorders Robinow Syndrome Conditions and Diseases:Genetic Disorders:Robinow Syndrome National Library of Medicine The synonyms of Robinow syndrome, a summary and a list of major features. nlm.nih.gov/mesh/jablonski/syndromes/sy... NORD - Robinow Syndrome Offers a general discussion, the synonyms and further resources. stepstn.com/cgi-win/nord.exe?proc=Redir... Robinow Syndrome Foundation Details about the organization as well as the disease. Includes general information, a survey, newsletter and photos. robinow.org/ Yahoo! Groups A new email group for sharing and learning about Robinow syndrome. Join, post and read from this site. groups.yahoo.com/group/robinow_syndrome/ CATEGORIES ADD A LINK ADVERTISE CONTACT US ... FORUMS

65. Dwarfism And Skeletal Dysplasia Links Brown 137 25th Ave. Monroe, WI 53566; robinow syndrome Foundation; ShortRib Polydactyly Syndrome Family Network; Short Statured People http://www.hopkinsmedicine.org/greenberg.center/links.htm

Greenberg Center for Skeletal Dysplasias Links and References to Organizations with Information on Dwarfism and Skeletal Dysplasias Alliance for Genetic Support Groups American Academy of Pediatrics " Health Supervision for Children With Achondroplasia Association Quebecoise des Personnes de Petite Taille , Quebec's Association of Persons of Short Stature Billy Barty Foundation , An educational and lobbying organization for individuals with dwarfism Diastrophic Help Web Site Dwarfism Web Page Genetic Syndrome Support Groups Online and Other Health-Related WWW Sites Genetic/Rare Conditions Support Groups and Information Site ... Little People of America, National Headquarters , (A good source of links The Little People of New Zealand Little People of Ontario Metatropic Dysplasia Dwarf Registry ... Osteogenesis Imperfecta Foundation Rhizomelic Chondrodysplasia Punctata (RCP) Family Support Group 137 25th Ave. Monroe, WI 53566 Robinow Syndrome Foundation Short Rib Polydactyly Syndrome Family Network Short Statured People of Australia (SSPA) SED, SMD, and Kniest Support Group ... Return to the Greenberg Center Main Page Updated 2/6/03

66. MUMS List Of Disorders - Q - R SC Phocomelia) (1); Robertson Translocation (Chromosome 13/14) (6)*; robinow syndrome (13) * www.robinow.org; Rods Placed in Spine http://www.netnet.net/mums/mum_q-r.htm

Return to MUMS Home Page MUMS: List of Disorders Q - R Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. Quadriplegia (213) Quadruplets 2 w/Cerebral Palsy (1) Quadruplets 2 w/Cerebral Palsy/2 died (1) Radial Club Hand (5) * Radio-Sensitivity (1) Radio-Ulnar Synostosis, Bilateral (arms can't rotate) (1) Radio-Ulnar Synostosis, Unilateral (right arm can't rotate) (1) Rasmussen Syndrome (4) * Rathke's Pouch Tumor (1) Raynaud's Disease and Phenomenon (5) * Reactive Airway Disease (34) Rectal Malformation (69) * Reflex Anoxic Seizures (2) * Reflex Sympathetic Dystrophy Syndrome (8) ** Refsum Syndrome (5) Refsum Syndrome, Infantile (2) Renal Agenesis, Bilateral (2) Renal Agenesis, Unilateral (2) Renal Failure, Chronic (19) * Renal Tubular Acidosis (13) * Renal, Fanconi Syndrome (4) * Respiratory Distress Syndrome (RDS) (33) Respiratory Syncitial Virus (RSD) (39) Restrictive Cardiomyopathy Ideopathic Heart Disease (1) * Restrictive Lung Disease (4) Retinal Angiomata (1) Retinitis Pigmentosa (RP) (17) * Retinoblastoma (11) * Retinopathy of Prematurity (58) * Retinoschisis, Juvenile (2)

67. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli Translate this page Schinzel, syndrome de Rivera perez salas syndrome de Roberts, syndrome de Robinowlike syndrome Robinow sorauf syndrome de robinow syndrome de robinow syndrome http://www.orpha.net/Pat/FRR.html

Liste des maladies commençant par R Rabson-Mendenhall, syndrome de Rachis rigide cardiomyopathie Rachitisme vitamino-résistant Radiculomegalie des canines cataracte congenitale ... Rythme troubles myopie

68. Interactive Fly, Drosophila Afzal, AR, et al. (2000). Recessive robinow syndrome, allelic to dominant brachydactylytype B, is caused by mutation of ROR2. Nat. Genet. 25(4) 41922. http://sdb.bio.purdue.edu/fly/gene/dror4.htm

dror DEVELOPMENTAL BIOLOGY Embryonic dror transcripts are found in the extended germ band [Image] stage ( stage 11 ). Many, if not all, neurons in the brain and central nervous system express dror . Transcripts are also found in sense organs of the peripheral nervous system (Wilson, 1993). REFERENCES Afzal, A. R., et al. (2000). Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat. Genet. 25(4): 419-22. Medline abstract: Al-Shawi, R., et al. (2001). Expression of the Ror1 and Ror2 receptor tyrosine kinase genes during mouse development. Dev. Genes Evol. 211: 161-171. Medline abstract: Atwall, J. K., et al. (2000). The TrkB-Shc site signals neuronal survival and local axon growth via MEK and PI3-kinase. Neuron 27: 265-277. Medline abstract: Canossa, M., Rovelli, G. and Shooter, E. M. (1996). Transphosphorylation of the neurotrophin Trk receptors. J. Biol. Chem. 271: 5812-5818. Medline abstract: Carter, D. B., et al. (1996). Selective activation of NF-kappa B by nerve growth factor through the neurotrophin receptor p75. Science 272: 542-545 DeChiara, T. M., et al. (2000). Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development. Nat. Genet. 24(3): 271-4. Medline abstract:

69. Health Library - Robinow Syndrome HOME, JOB OPPORTUNITIES, WAYS TO HELP NOW, MY PERSONAL HEALTH. robinow syndrome.Self Help Clearinghouse. robinow syndrome Foundation. National network. http://www.mission4health.com/library/healthguide/SelfHelp/topic.asp?hwid=shc29r

70. Andrew Wilkie's Laboratory syndrome (Johnson et al 1998); and identification of mutations of ROR2 in brachydactylytype B (Oldridge et al 2000) and recessive robinow syndrome (Afzal et http://immwww.jr2.ox.ac.uk/groups/clingen/wilkie.html

Andrew Wilkie's Laboratory Prof Andrew Wilkie Tel +44 1865 222619 awilkie@molbiol.ox.ac.uk Molecular genetics of craniofacial and limb malformation About 1 in 40 babies is born with a serious congenital abnormality: in many cases, this is caused by alterations (mutations) in genes involved in the normal process of embryonic development. Many important malformations affect both the skull and limbs, suggesting that similar developmental processes are used to build these distinct structures. Prof Wilkie's laboratory is investigating these processes by identifying the causative mutations in patients with skull and limb malformations. Such individuals frequently require plastic surgery and the group collaborates with Mr Steven Wall and Mr Henk Giele at the Department of Plastic Surgery in Oxford in the investigation of their patients. The identification of these mutations raises the question of how they affect normal biochemical and embryological processes during early skull and limb development. We are collaborating with Prof John Heath (University of Birmingham) and Prof Gillian Morriss-Kay (University of Oxford) in the study of these problems. So far this work has demonstrated that the Apert mutations increase the binding affinity for specific fibroblast growth factors (Anderson et al 1998), has led to the identification of an unusual FGFR splicing mechanism (Twigg et al 1998) and has provided insights into the normal pathway of skull osteogenesis (Iseki et al 1997, Iseki et al 1999, Johnson et al 2000).

71. MAGIC FOUNDATION N Nephratic Syndrome Noonan Syndrome. OP Prader Willi Syndrome. QR Riegers Syndromerobinow syndrome. S Seckel Syndrome Short Syndrome Sheehan's Syndrome. http://www.magicfoundation.org/os/default.htm

The MAGIC Foundation is always expanding to meet the needs of many affected people. In addition to the more prevalent syndromes detailed throughout this magazine, we also have families and/or affected people with the other medical conditions (partial listing below). If you would like to network with them, please contact our office. If you are a medical professional and have patients with these diagnoses, feel free to mention our networking to them. If you do not see your disorder listed, please contact our office for the most up to date listing. A Aarskog Syndrome Aicardi Syndrome Alagille Syndrome Asperger Syndrome B Behcet's Disease C Cardiofaciocutaneous Syndrome Caudal Regression Syndrome Conradi Hunermann Syndrome Costello Syndrome D DeBarsy Syndrome Down Syndrome Dubowitz Syndrome Dyggve Melchior Clausen Syndrome E Ellis-van Creveld Syndrome Epstein Barr Syndrome F Fairbanks Disease Fetal Alcohol Syndrome Froelich's Syndrome G Goldenhar Syndrome H Hallerman Streif Syndrome Hirschsprungs Syndrome I Intrauterine Growth Retardation J Jeunne Syndrome K Klinefelters Syndrome Kniest Syndrome L Leopard Sydnrome Lowe Syndrome M Marshall Smith Syndrome Moebius Syndrome

72. Health Library - Robinow Syndrome For Employees, Search. robinow syndrome. Self Help Clearinghouse. RobinowSyndrome Foundation. National network. Founded 1994 http://www.uvmc.com/library/healthguide/SelfHelp/topic.asp?hwid=shc29rob

73. Links: Health: Rare Disorders- Alabama Council For Developmental Disabilities Refsum's; Retinoblastoma; Rett's Syndrome; Rickets; robinow syndrome;RubinsteinTaybi Syndrome; Russell Silver Syndrome; Sanfilippo Syndrome; http://www.acdd.org/Links/conditions/Rare_Disorders.htm

You are here: Home Links Conditions Rare Disorders Rare Disorders Home About Definition Planning ... Search On this page: General Disorders General Cherubs - A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia. Contact a Family - Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK. Fibrous Dysplasia Support Online - For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism. Human Growth Foundation - Information about growth-related disorders through education, research, and advocacy. Member driven organization. International Rare Disease Support Network - A community providing more than a 1000 different links to support groups for the people of all nations. Kindler Syndrome - An article and case study of this rare disease. Includes links. National Organization for Rare Disorders, Inc.

74. P - R robinow syndrome. See also Craniofacial Disorders; Short Stature. robinow syndromeFoundation. http//www.Robinow.org. RUBINSTEINTAYBI SYNDROME. http://1stnetwork.tripod.com/resources/id25.html

Get Five DVDs for $.49 each. Join now. Tell me when this page is updated First Network's National Resources P - R Home A B C ... N - O P - R S T - U - V - W - X If the information you were looking for isn't found here, email First Network Online for additional assistance. Click here to send an email and request additional assistance. PALLISTER-HALL SYNDROME Pallister-Hall Foundation http://www.kumc.edu/gec/support/palshall.html PERVASIVE DEVELOPMENTAL DISORDER / PDD See: Autism PELIZAEUS-MERZBACHER DISEASE See also: Leukodystrophy The PMD Foundation http://www.pmdfoundation.org PHENYLKETONURIA (PKU) See also: Metabolic Disorders Childrens PKU Network pkunetwork@aol.com http://www.pku-allieddisorders.org National PKU News http://www.pkunews.org PITUITARY DISORDERS / TUMORS Pituitary Network Association http://www.pituitary.org POLIO Informed Parents Against VAPP (Vaccine Associated Paralytic Polio) http://www.ipav.org International Polio Network http://www.post-polio.org POMPE DISEASE See also: Glycogen Storage Diseases; Muscular Dystrophy The Childrens Pompe Foundation http://www.pompe.org

75. Electricbrain Home: Index: Health: Conditions And Diseases: Genetic Disorders VeloCardio-Facial Syndrome Usher Syndrome Thrombocytopenia Absent Radius SyndromeSturge-Weber Syndrome Prune Belly Syndrome robinow syndrome Russell Silver http://www.electricbrain.com/index/Health/Conditions_and_Diseases/Genetic_Disord

electricbrain Index Health Conditions and Diseases : Genetic Disorders home index write privacy ... Noonan Syndrome Famous quotes: Business is a good game lots of competition and minimum of rules. You keep score with money. Nolan Bushnell, founder of Atari Find someone: Old Friends New Friends Lost Love New Love ... privacy

76. Robinow Syndrome robinow syndrome robinow syndrome Foundation http//www.robinow.orgDetails about the organization as well as the disease. Includes http://www.medlina.com/robinow_syndrome.htm

Academic Medicine Addiction Aging AIDS-HIV ... Women's Health The Web MEDLINA.com (partial) CDC WHO FDA NIH CATEGORIES Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: Home Up Refsum Disease Robinow Syndrome Rubinstein-Taybi Syndrome Russell-Silver Disease Robinow Syndrome Robinow Syndrome Foundation - http://www.robinow.org Details about the organization as well as the disease. Includes general information, a survey, newsletter and photos. National Library of Medicine - http://www.nlm.nih.gov The synonyms of Robinow syndrome, a summary and a list of major features. Yahoo! Groups - http://groups.yahoo.com A new email group for sharing and learning about Robinow syndrome. Join, post and read from this site. SUBCATEGORIES Up powered by A merica M edica, I nc. info@medlina.com New York City

77. Congenital, Hereditary, And Neonatal Diseases And Abnormalities Comprehensive list of links from Karolinska Institutet, Sweden.Category Health Nursing Specialties Neonatal...... (US). robinow syndrome (not on MeSH) robinow syndrome Fact Sheet Jablonski's Syndromes Database/NLM (US); robinow syndrome (Fetal http://www.mic.ki.se/Diseases/c16.html

search help staff Congenital, Hereditary, and Neonatal Diseases and Abnormalities (including Pediatrics) 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. Alphabetical List of Diseases Search PubMed at NCBI/NLM 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 [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping P Murphy Human Disease Maps J Frezal ] - GENATLAS (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com Prenatal Diagnosis GR DeVore ] - Fetal.Com Prenatal Diagnosis [images; EC Klatt PEDIATRICS Harriet Lane WWW Links ('Pediatric Points of Interest') CU Lehmann ] - Johns Hopkins U. Child and Teen Health Topics - Medline Plus , NLM(US) Acute Pediatric Care - Univ of Minnesota (US) Children's Hospital Handbook, 1999

78. Health Library - Robinow Syndrome Search Advanced Search KMC Web Nursery Home Home. robinow syndrome. Self HelpClearinghouse. robinow syndrome Foundation. National network. http://www.kmc.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29rob

79. Birth Defects Foundation Sliver syndrome. Pelizaeus Merzbacher syndrome. Anticonvulsants in pregnancy.robinow syndrome. Plunc Gene in tracheal development. Vascular malformations. http://www.birthdefects.co.uk/bdf_may01/pages/research/grants_made.htm

Portfolio of grants Our research portfolio has a broad mix of research into many different birth defects and yet although there has not been a focus or concentration on one area we have supported many successful projects. In particular BDF have supported many researchers in the early stages of their careers when they had no track record. With the help of our advisors we have been able to recognise their potential and have set them on a future path researching into the cause, diagnosis and treatment of birth defects. The foundations we have been able to lay down in our first ten years will benefit all our children. Cleft palate genes Miscarriage Gene Therapy Noonan Syndrome Ultrasound scanner Cerebral palsy Endocervical sampling Xist expression in early embryo Inhibin in Downs screening Fibroblast growth factor receptor 2 Genes in Downs syndrome Genes in Cleft palate SOX developmental genes in intersex Elastin mutations SON regulatory gene in Downs syndrome Lymphoedema distichiasis Gastroschisis CDX homeobox gene T box gene in spina bifida Abnormal sex development Williams syndrome Di George Syndrome Protein Kinase C Craniosynostosis Vitroretinal eye disorders WWW site for dysmorphology Autosomal recessive microcephaly Inherited Deafness Genes for cleft palate Di George syndrome Beckwith Weidemann Syndrome CMV infection in pregnancy Neural tube defects Early embryonic imprinting Wolf Hirschorn syndrome Lymphoedema distichiasis Protein Kinase C Hypospadias Fine mapping of Williams locus Treacher Collins syndrome

80. Definitions Of Genetic Disorders-R Robin Anomalad, Sequence, or Syndrome http//www.pierrerobin.org/information.html.robinow syndrome http//www.stepstn.com/nord/rdb_sum/696.htm. http://www.icomm.ca/geneinfo/def-r.htm

The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Definitions of Genetic Disorders beginning with the letter R Click on the link next to the disorder to view its definition. ch4r.htm ch6r.htm ch14r.htm r 18 ch18r.htm ch21r.htm ch22r.htm Rachischisis Posterior spinbif.htm Radial Aplasia-Amegakaryocytic Thrombocytopenia tar.htm Radial Aplasia-Thrombocytopenia Syndrome tar.htm Radial Nerve Palsy perneurop.htm Radicular Neuropathy Sensory hsn.htm Radicular Neuropathy Sensory acrodystr.htm Radicular Neuropathy Sensory Recessive hsn.htm Radicular Dentin Dysplasia dentin.htm Rapid-onset Dystonia-parkinsonism dystonia.htm Rapp-Hodgkin Syndrome rapphodkins.htm Rapp-Hodgkin (hypohidrotic) Ectodermal Dysplasia syndrome rapphodkins.htm Rapp-Hodgkin Hypohidrotic Ectodermal Dysplasias ed.htm Rare hereditary ataxia with polyneuritic changes and deafness caused by a defect in the enzyme phytanic acid hydroxylase refsum.htm

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