81. GGTC German Gene Trap Consortium G046B04 16577 nrest uni Hs.208080 ROR2 602337 Brachydactyly, type B1,113000 (3); robinow syndrome, autosomal G046E08 16590 nr-est uni http://tikus.gsf.de/project/web_new/database/result_disorder_clone.html?mimnum=6

82. Traduci robinow syndrome (not a MeSH term). robinow syndrome Home Page, and Het syndroomvan Robinow; in Dutch MAM van Steensel (NL); robinow syndrome OMIM; http://www.unict.it/medint/pediatria.htm

HOME SOMMARIO Infezioni batteriche e micosi Malattie da virus ... Storia della medicina BIBLIOTECA VIRTUALE ON-LINE PEDIATRIA web editor: Guglielmo M.Trovato Istituto di Medicina Interna e Terapia Medica - Università di Catania - In questa sezione di biblioteca virtuale sono censiti siti con caratteristiche assai diverse: testi, collezioni di immagini, video didattici etc. Per una traduzione on-line si può attivare il traduttore di ALTAVISTA , su cui bisogna riportare, dopo averlo selezionato, il testo che interessa (seleziona col mouse, copia, incolla sul traduttore elettronico, traduci) Genes and Disease and Online Mendelian Inheritance in Man [OMIM; McKusik] - NCBI (US) A Gene Map of the Human Genome 1998 , and a list of Featured Genes '96 - NLM/NCBI (US) and a - KUMC (US) Genetic Diseases: A Layman's Approach Murphy et al ] - N Y Medical C. (US)

83. Max Planck Society - EDoc Server robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomeliclimb shortening, vertebral and craniofacial malformations and small external http://edoc.mpg.de/228850

Home News About Us Contact ... Home Search Quick Search Advanced Fulltext Browse Collections Persons My eDoc Session History Login Name: Password: Documentation Help Display Documents Entries 1-1 of 1 history ID: , MPI f¼r molekulare Genetik / Research Group Development and Disease Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome Authors: Schwabe, Georg C. Trepczik, Britta S¼ring, Kathrin Brieske, Norbert ... Mundlos, Stefan Document type: Article Language: English Journal Abbrev.: Dev Dyn Audience: Experts Only Comment of the Author/Creator: Published online: 2004-01-09 Free Keywords: Ror2; Robinow syndrome; somitogenesis; development of limb; craniofacies; genital Review Status: not specified Issue / Number: Abstract / Description: Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic limb shortening, vertebral and craniofacial malformations and small external genitals. We have analyzed Ror2-/- mice as a model for the developmental pathology of RS. Our results demonstrate that vertebral malformations in Ror2-/- mice are due to reductions in the presomitic mesoderm and defects in somitogenesis. Mesomelic limb shortening in Ror2-/- mice is a consequence of perturbed chondrocyte differentiation. Moreover, we show that the craniofacial phenotype is caused by a midline outgrowth defect. Ror2 expression in the genital tubercle and its reduced size in Ror2-/- mice makes it likely that Ror2 is involved in genital development. In conclusion, our findings suggest that Ror2 is essential at multiple sites during development. The Ror2-/- mouse provides a suitable model that may help to explain many of the underlying developmental malformations in individuals with Robinow syndrome.

84. OMIM Entry 261540 (1988) described an autosomal recessive syndrome resembling robinow syndrome . Setting that disorder apart from robinow syndrome were anterior chamber http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?261540

85. Homozygous Mutations In IHH Cause Acrocapitofemoral Dysplasia, An Autosomal Rece mutations scattered throughout the entire coding region cause robinow syndrome.However, heterozygous carriers of robinow syndrome do not seem to have http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1180335

86. Health Library - The Receptor Tyrosine Kinase Ror2 Associates with and Is Activated recessive robinow syndrome and dominant brachydactyly type B (BDB) (18–23) . malformations found in patients with robinow syndrome (24). http://12.42.224.225/library/healthguide/en-us/illnessconditions/topic.asp?hwid=

87. Robinow's Syndrome (www.whonamedit.com) robinow s syndrome A syndrome of multiple cogenital anomalies, includingfoetallike facies, mesomelic dwarfism, and genital hypoplasia. http://www.whonamedit.com/synd.cfm/3020.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Robinow's syndrome Also known as: Robinow's dwarfism Robinow-Silverman-Smith syndrome Synonyms: Achondroplasialike dwarfism syndrome, achondroplastic dwarfism syndrome, acral dysostosis with facial and genital abnormalities, foetal face-mesomelic dwarfism, foetal-face syndrome, mesomelic dwarfism-small genitalia syndrome, mesomelic dwarfism syndrome. Associated persons: Meinhard Robinow Frederic Noah Silverman Hugo D. Smith Description: A rare syndrome characterized by unusual (foetal-like) facies, mesomelic shortening of the forearms, hemivertebrae, genital hypoplasia, frontal bossing, hypertelorism, wide palpebral fissures, short upturned nose with anteverted nares, long philtrum, receding chin, brachydactyly, and a long list of other anomalies. Both sexes affected. Present from birth. Intelligence is usually normal but delayed physical and mental development noted in about 18%. Inheritance is usually autosomal dominant but recessive and sporadic cases have been reported. First described by Robinow et al on the basis of a family with affected persons in six generations.

88. Meinhard Robinow (www.whonamedit.com) paediatrician and clinical geneticist, born May 19, 1909, Hamburg, died July1997. Associated with robinow s syndrome,robinowSorauf syndrome. http://www.whonamedit.com/doctor.cfm/2554.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Meinhard Robinow German-American paediatrician and clinical geneticist, born May 19, 1909, Hamburg, died July 1997. Associated eponyms: Robinow's syndrome A syndrome of multiple cogenital anomalies, including foetal-like facies, mesomelic dwarfism, and genital hypoplasia. Robinow-Sorauf syndrome A syndrome of facies like those of the Sæthre-Chotzen syndrome and bilaterally broad big toes owing to partial or complete duplication of the distal phalanx. Biography: Meinhard Robinow was the son of a Hamburg lawyer. He studied medicine at the Universities of Munich, Heidelberg, Berlin and Hamburg, graduating in 1934. Shortly after he moved to the USA to avoid Nazi persecution. He subsequently trained in paediatrics in Augusta, Georgia and at the Fels Research Institute, Yellow Springs, Ohio.

89. Robinow-Sorauf Syndrome robinowSorauf syndrome. Acrocephalosyndactyly, robinow-Sorauf type. Craniosynostosis -bifid hallux syndrome. Identification of a frameshift mutation in http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=648

90. Robinow S Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/ROBINOWS SYNDROM

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Robinow's syndrome, (Meinhard Robinow, born 1909, American physician), see mesomelic dysplasia HC The Encyclopaedia of Medical Imaging Volume VII Corporate Products Financial Services Our Commitment ... Terms of Conditions

91. Arch Pediatr Adolesc Med -- Abstract: Robinow's Syndrome. Partial Primary Hypogo robinow s syndrome. Partial primary hypogonadism in pubertal boys, with persistenceof micropenis. PA Lee, CJ Migeon, TR Brown and M. robinow http://archpedi.ama-assn.org/cgi/content/abstract/136/4/327

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 136 No. 4, April 1982 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager Articles in PubMed by Lee PA Robinow M Contact me when this article is cited Robinow's syndrome. Partial primary hypogonadism in pubertal boys, with persistence of micropenis P. A. Lee, C. J. Migeon, T. R. Brown and M. Robinow We studied four patients with Robinow's syndrome. New findings included the following: (1) normal pubertal virilization with persistence of micropenis; (2) elevated basal serum follicle-stimulating hormone levels and a hyperresponse of serum luteinizing hormone to gonadorelin hydrochloride (Factrel) stimulation among postpubertal male patients, suggesting partial primary hypogonadism; (3) normal 5 alpha-reductase and androgen receptor

92. Link Directory - Finnish Information Center On Mental Retardation robinow s syndrome. Partial primary hypogonadism in pubertal boys, robinowsyndrome, vaginal atresia, hematocolpos, and extra middle finger Sevim Balci http://www.saunalahti.fi/kup/engl/webs_r.html

Finnish Information Center on Mental Retardation English links A B C D ... Z Rambam-Hasharon Syndrome Rambam-Hasharon syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc, OMIM, Victor A. McKusick, Ada Hamosh et al. GDP-FUCOSE TRANSPORTER 1, OMIM, Victor A. McKusick Chr.11, FUCT1 to Chr.11, SLC22A8, The OMIM Gene map ... The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter, Luhn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D, Nat Genet. 2001 May;28(1):69-72 - PubMed Ramon Syndrome Ramon syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes RAMON SYNDROME, OMIM, Victor A. McKusick Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis, Pina-Neto JM, Moreno AF, Silva LR, Velludo MA, Petean EB, Ribeiro MV, Athayde-Junior L, Voltarelli JC, Am J Med Genet. 1986 Nov;25(3):433-41 - PubMed, Entrez Retinal changes and tumorigenesis in Ramon syndrome: follow-up of a Brazilian family, de Pina-Neto JM, de Souza NV, Velludo MA, Perosa GB, de Freitas MM, Colafemina JF, Am J Med Genet. 1998 Apr 28;77(1):43-6 - PubMed Rasmussen's Encephalitis NINDS Rasmussen's Encephalitis Information Page Rasmussen's Encephalitis, HealthLink

93. Robinow-Silverman-Smith Syndrome Information Diseases Database robinowSilverman-Smith syndrome,Fetal face syndrome,robinow dwarfism, DiseaseDatabase Information. http://www.diseasesdatabase.com/ddb31739.htm

Diseases Database Index Sponsors Contact ... Previous Page Robinow-Silverman-Smith syndrome information Search 3 synonyms or equivalents were found. Robinow-Silverman-Smith syndrome aka/or Fetal face syndrome aka/or Robinow dwarfism may cause or feature (Follow link for list.) belong(s) to the category of (Follow link for list.) Robinow-Silverman-Smith syndrome: Definition(s) via UMLS Code translations and terms via UMLS Robinow-Silverman-Smith syndrome: specific web sites Send Robinow-Silverman-Smith syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 17:41:42 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition!

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