61. UniProtKB/Swiss-Prot Entry Q01974 [ROR2_HUMAN] Tyrosine-protein Kinase Transmemb Recessive robinow syndrome, allelic to dominant brachydactyly type B, DISEASE Defects in ROR2 are a cause of recessive robinow syndrome (RRS) http://www.expasy.org/uniprot/Q01974

ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) UniProtKB/Swiss-Prot entry Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers Entered in Swiss-Prot in Release 40, October 2001 Sequence was last modified in Release 40, October 2001 Annotations were last modified in Release 48, September 2005 Name and origin of the protein Protein name Tyrosine-protein kinase transmembrane receptor ROR2 [Precursor] Synonyms EC Neurotrophic tyrosine kinase, receptor-related 2 Gene name Name: Synonyms: From Homo sapiens (Human) TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE. PubMed=1334494 [ NCBI ExPASy EBI Israel ... Masiakowski P.

62. The Turkish Journal Of Pediatrics Robinow and McKusick Kaufman syndromes2,912. robinow syndrome has cardinalfeatures including short stature, mesomelic shortening of forearms, http://tjp.dergisi.org/text.php3?id=88

63. All Topics - Quest Diagnostics Patient Health Library Robin Syndrome Robinow Dwarfism robinow syndrome robinow syndrome SupportGroup. robinow syndrome Foundation robinow syndrome Support Group http://www.questdiagnostics.com/kbase/list/all/r.htm

All Topics Click a letter to see a list of topics beginning with that letter. A B C D ... R.I.D. (Remove Intoxicated Drivers) - Crime Victims / Offenders [Support Group] RA Rabies Rabson-Mendenhall Syndrome RAD - Deaf / Hearing Impaired / Tinnitus / Meniere's [Support Group] Radial Aplasia-Amegakaryocytic Thrombocytopenia Radial Aplasia-Thrombocytopenia Syndrome Radial keratotomy (RK) for nearsightedness Radiation Disease ... Radiation Helpline [Support Group] Radiation Illness Radiation Injuries Radiation Reaction Radiation Sickness ... Radiation therapy for cancer pain Top Radiation therapy for endometrial cancer Radiation therapy for lymphoma and leukemia Radiation therapy for prostate cancer Radiation therapy for skin cancer ... Radioactive Iodine Uptake Test [Medical Test] Radioactive Iodine Uptake Test and Thyroid Scan [Medical Test] Radioactive Thyroid Scan [Medical Test] Radioallergosorbent Test [Medical Test] Radiofrequency catheter ablation for atrial fibrillation Radionuclide Angiography [Medical Test] Radionuclide Ventriculography [Medical Test] Radon Rainbow Alliance of the Deaf - Deaf / Hearing Impaired / Tinnitus / Meniere's [Support Group] Rainbow Room - Sexual Orientation / Gay and Lesbian [Support Group] RAINBOWS - Adoption [Support Group] RAINBOWS - Bereavement (General) [Support Group] RAINBOWS - Separation / Divorce [Support Group] Top RAINN (Rape, Abuse and Incest National Network) - Rape Hotline

64. Clinical Dysmorphology - UserLogin ROR2 and Brachydactyly Type B and Recessive robinow syndrome. In Epstein CJ,Erickson RP, WynshawBoris A (editors) The molecular basis of clinical http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200507000-00002.htm

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65. Clinical Dysmorphology - UserLogin lowset ears and the flat facial profile, reminiscent of robinow syndrome . fontanel and the genital hypoplasia overlap with robinow syndrome; http://www.clindysmorphol.com/pt/re/mcd/fulltext.00019605-200410000-00013.htm

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66. Health Library - 12.42.224.150/library/healthguide/enus/SelfHelp/t Congenital, Hereditary, and Neonatal Diseases and Abnormalities Syndrome - Proteus Syndrome - Proteus Syndrome - Prune Belly Syndrome - RettSyndrome - Rett Syndrome - Rett Syndrome - robinow syndrome (not on MeSH) http://12.42.224.150/library/healthguide/en-us/illnessconditions/topic.asp?hwid=

67. Interactive Fly, Drosophila robinow syndrome is a shortlimbed dwarfism characterized by abnormal The recessive form of robinow syndrome, particularly frequent in Turkey, http://www.sdbonline.org/fly/gene/dror2.htm

dror EVOLUTIONARY HOMOLOGS Invertebrate Trk receptors KIN-8 in C. elegans is highly homologous to human ROR-1 and 2 receptor tyrosine kinases of unknown functions. These kinases belong to a new subfamily related to the Trk subfamily. A kin-8 promoter:: gfp fusion gene was expressed in ASI and many other neurons, as well as in pharyngeal and head muscles. A kin-8 deletion mutant has been isolated that shows constitutive dauer larva formation (Daf-c) phenotype: about half of the F1 progeny became dauer larvae when they are cultivated on an old lawn of E. coli as food. Among the cells expressing kin-8::gfp , only ASI sensory neurons are known to express DAF-7 TGF-beta, a key molecule preventing dauer larva formation. In the kin-8 deletion mutant, expression of daf-7::gfp in ASI is greatly reduced; dye-filling in ASI is specifically lost, and ASI sensory processes do not completely extend into the amphid pore. The Daf-c phenotype is suppressed by daf-7 cDNA expression or a daf-3 null mutation. In the kin-8 mutant, ASI-directed expression of

68. Interactive Fly, Drosophila Recessive robinow syndrome, allelic to dominant brachydactyly type B, is causedby mutation of ROR2. Nat. Genet. 25(4) 41922. Medline abstract 10932186 http://www.sdbonline.org/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. List Of Diseases Starting With R: Information From Answers.com Roberts Syndrome; Robin sequence and oligodactyly; Robinow Sorauf syndrome;robinow syndrome; Robinson Miller Bensimon syndrome; RochLeri mesosomatous http://www.answers.com/topic/list-of-diseases-starting-with-r

showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Or search: - The Web - Images - News - Blogs - Shopping List of diseases starting with R Wikipedia List of diseases starting with R A list of diseases in the English wikipedia. A B C D ... Q R S T U V ... Z Ra Rab-Rai Rabies Rabson-Mendenhall syndrome Radial defect Robin sequence Radial hypoplasia, triphalangeal thumbs and hypospadias Radial ray agenesis Radial ray hypoplasia choanal atresia Radiation induced angiosarcoma of the breast Radiation induced meningioma Radiation leukemia Radiation related neoplasm /cancer Radiation syndromes Radiation-Induced Brachial Plexopathy Radiculomegaly of canine teeth congenital cataract Radio digito facial dysplasia Radio renal syndrome Radiophobia Radioulnar synostosis mental retardation hypotonia Radioulnar synostosis retinal pigment abnormalities Radio-ulnar synostosis type 1 Radio-ulnar synostosis type 2 Radius absent anogenital anomalies Raine syndrome Ram-Ray Rambam Hasharon syndrome Rambaud Galian syndrome Ramer Ladda syndrome Ramon Syndrome Ramos Arroyo Clark syndrome Ramsay Hunt paralysis syndrome Rapadilino syndrome Rapp-Hodgkin syndrome Rasmussen encephalitis Rasmussen Johnsen Thomsen syndrome Rasmussen subacute encephalitis Ray Peterson Scott syndrome Raynaud's disease/phenomenon Rayner Lampert Rennert syndrome Re Rea-Reg Reactive airway disease Reactive arthritis Reactive attachment disorder of early childhood Reactive attachment disorder of infancy Reactive hypoglycemia Reardon Hall Slaney syndrome

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

setAdGroup('67.18.104.18'); var cm_role = "live" var cm_host = "tripod.lycos.com" var cm_taxid = "/memberembedded" Search: Lycos Tripod TV, Movie News Share This Page Report Abuse Edit your Site ... Next 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

71. OMIM - ROBINOW SYNDROME, AUTOSOMAL RECESSIVE http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268310

72. OMIM - ROBINOW SYNDROME, AUTOSOMAL DOMINANT http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180700

73. KoreaMed - Basic Search A Case of robinow syndrome(Fetal Face Syndrome) Associated with Cranium Bifidum . robinow syndrome is a rare inherited disorder initially reported by http://www.koreamed.org/SearchBasic.php?RID=180011&DT=1&QY=J Korean Child Neurol

74. ROR2 CM004800, 182, TGTTAT, Cys-Tyr, robinow syndrome, autosomal recessive, 1.CM002097, 184, aCGC-TGC, Arg-Cys, robinow syndrome, autosomal recessive, 2 http://www.uwcm.ac.uk/uwcm/mg/ns/1/136454.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference TGT-TAT Cys-Tyr Robinow syndrome, autosomal recessive aCGC-TGC Arg-Cys Robinow syndrome, autosomal recessive cCGG-TGG Arg-Trp Robinow syndrome, autosomal recessive cCGA-TGA Arg-Term Robinow syndrome, autosomal recessive cCGG-TGG Arg-Trp Robinow syndrome, autosomal recessive cCGA-TGA Arg-Term Robinow syndrome, autosomal recessive cCAG-TAG Gln-Term Robinow syndrome, autosomal recessive AATg-AAA Asn-Lys Robinow syndrome, autosomal recessive TGGg-TGA Trp-Term Robinow syndrome, autosomal recessive TGG-TAG Trp-Term Brachydactyly, type B TGGg-TGA Trp-Term Brachydactyly, type B TACa-TAA Tyr-Term Brachydactyly, type B gCAG-TAG Gln-Term Brachydactyly, type B References 1 - van Bokhoven (2000) Nat Genet 2 - Afzal (2000) Nat Genet ... Am J Hum Genet HGMD

75. Health Library - The Royal Hospital Murday VA, Pattan MA, Wilkie AO, Jeffrey S. Recessive robinow syndrome, of recessive robinow syndrome to a 4 cM interval on chromosome 9q22. Hum. http://12.31.13.113/library/healthguide/en-us/illnessconditions/topic.asp?hwid=n

76. Prof.Dr. Sevim Balci's Home Page robinow syndrome, vaginal atresia, hematocolpos, and extra middle finger. Am JMed Genet. 1998 Aug 27;79(1)279. MEDLINE record in process PMID 9738864; http://yunus.hacettepe.edu.tr/~sbalci/

Prof.Dr.Sevim Balcý PERSONAL INFORMATION Office Address Hacettepe University Faculty of Medicine Department of Pediatrics Division of Genetics 06100 Sýhhýye- Ankara Phone: Fax: sbalci@hacettepe.edu.tr CURRENT POSITION - Professor of Genetics, Department of Pediatrics, Hacettepe University, Ankara-Turkey. EDUCATION AND RELEVANT WORK HISTORY -Ankara University Faculty of Medicine 1956-1962. Pediatric Resident Hacettepe University Children’ s Hospital 1962-1966. Chief Resident in Pediatrics 1965-1968. Fellow in Pediatrics, Hacettepe Univ. Faculty of Med. 1967. Assosc.Prof. in Pediatrics, Hacettepe University Faculty of Medicine 1972. Full Prof. in Pediatrics, Hacettepe University Faculty of Medicine 1977. Professor of Genetics. SOCIETIES - Member of Turkish Pediatrics Association. - Member of European Society of Human Genetics (ESHG). - Member of International Society of Prenatal Diagnosis (ISPD).- Member of GENKOR (Genetik Hastalýklardan Koruma Derneði) and TAMG (Turkish Association of Medical Genetics). PUBLICATIONS (1994-...)

77. GeneReviews: ROR2-Related Robinow Syndrome Distinct mutations in the receptor tyrosine kinase gene ROR2 cause ventricular septal defectfeatures that are reminiscent of robinow syndrome, haploinsufficiency and that is distinct from that in robinow syndrome. http://www.geneclinics.org/servlet/access?id=&key=&fcn=y&fw=PUai&filename=/profi

78. Eastern Mediterranean Health Journal, Vol. 4 No. 3 robinow syndrome is usually a dominant disease 20, but a rare recessive formis suggested by the reports of Saal et al. 24. The patient in this study http://www.emro.who.int/Publications/EMHJ/0403/4307.htm

Eastern Mediterranean Health Journal Back to Health Journal page Health Journal back issues Home Autosomal recessive disorders among patients attending the genetics clinic in Alexandria Volume 4, Issue 3, 1998, Page 470-479 M.M. Mokhtar, S.M. Kotb and S.R. Ismail ABSTRACT A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 (45.2%) patients had genetic disorders, 100 (33.6%) of whom had an autosomal recessive disorder; these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high (60%, with 48% first cousins). The average inbreeding coefficient was higher (0.03) than that reported for the Egyptian population in general (0.01). Maladies autosomiques récessives chez des patients consultant dans un service de génétique à Alexandrie REsumE Un nombre total de 660 patients qui avaient été orientés vers le service de génétique de l'Institut de Recherche médicale d'Alexandrie a fait l'objet d'une évaluation visant à déterminer la fréquence des maladies génétiques et la proportion des maladies autosomiques récessives. On a constaté que 298 patients (45,2%) présentaient des maladies génétiques dont 100 (33,6%) une maladie autosomique récessive; parmi ces derniers, 32 patients avaient des anomalies du métabolisme, 18 des hémoglobinopathies et 50 des syndromes ou des anomalies simples. La fréquence de la consanguinité chez les parents des patients présentant des maladies autosomiques récessives était élevée (60%, avec 48% de cousins germains). Le coefficient de consanguinité moyen était plus élevé (0,03) que celui rapporté pour la population égyptienne en général (0,01).

79. ER-associated Protein Degradation Is A Common Mechanism Underpinning Numerous Mo These data both uncover a major pathogenic factor for robinow syndrome and alsoindicate that misfolding of secretory proteins is likely to contribute http://hmg.oxfordjournals.org/cgi/content/abstract/ddi259v1

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Human Molecular Genetics Advance Access published online on July 27, 2005 Human Molecular Genetics, doi:10.1093/hmg/ddi259 This Article Advance Access manuscript (PDF) All Versions of this Article: most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Chen, Y. Articles by Ali, B. R. Received May 9, 2005 Revised July 12, 2005 Accepted July 20, 2005 Article ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome Ying Chen William P. Bellamy Miguel C. Seabra Mark C. Field and Bassam R. Ali Division of Biomedical Sciences, Faculty of Medicine, Imperial College, London SW7 2AZ, UK The Molteno Building, Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QP, UK

80. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page MALADIE Covesdem syndrome de. Synonyme(s) robinow syndrome de forme recessiveSegmentation costovertebrale anomalie mesomelie http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=1507

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