Aniridia apparently not been reported previously, although cerebellar ataxia mental deficiencyand congenital cataracts are known in the Marinesco Sjogren syndrome. http://ibis-birthdefects.org/start/aniridia.htm
Extractions: Shaw et al. (1960) ascertained 176 cases of aniridia in the lower Michigan peninsula ... mutation rate about 4 x 10(-6) per gamete per generation. Affected persons may be visually handicapped because of nystagmus, cataract or glaucoma ... Undoubtedly more than one "cause" of aniridia exists ... Gove et al. (1961) identified 77 cases of aniridia descended from an affected woman born in 1824 ... Delleman and Winkelman (1973) emphasized that atypical colobomata and slitlike defects of the iris stroma may be partial expressions of aniridia ... a fourth type associated with Wilms tumor, genital abnormalities, and deletion of 11p13 ( WAGR syndrome ) ...
Malattie Rare E Genetiche Lettera "M" Translate this page Sindrome di Garland-Moorhause/Sindrome di Marinesco-Garland/Sindrome di Sjogren/Sindromecataratta-oligofreniaMarinesco Sjogren syndrome/Marinesco-Sjögren http://utenti.lycos.it/fmfpc/M.htm
Extractions: Dal 22 Marzo 2003 il server Lycos, che ospita le pagine FMFPC, subirà un *fermo tecnico*. Le pagine resteranno accessibili ma non verranno aggiornate per circa una settimana. - Tutti i servizi di FMFPC continueranno a funzionare. - È ora possibile accedere al sito anche attraverso l'indirizzo alternativo di FMFPC (sito mirror) all'URL http://digilander.libero.it/fmfpc/portale.htm
Untitled HUMMOLGEN DIAGnostics/Clinical Research. 9/10/96 marinesco-sjogrensyndrome/PT request. dear sir. our daughter of 3,5 has a form of http://www.hum-molgen.de/clinical/91096-1.html
Extractions: dear sir our daughter of 3,5 has a form of mss we want to know more about this syndrome because in Holland its very rare can you please give us somre more information in advance , many thanks Apparent patient location: Holland PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK ( gambacorti@icil64.cilea.it
Extractions: Oireyhtymä muistuttaa Marinesco-Sjögrenin oireyhtymää . Varhaislapsuuden aikainen velttous, näkyvin oire, kestää esikouluikään. Sen lisäksi esiintyy ataksiaa , harmaakaihia ja kehitysvammaisuutta . Lisäksi oireistoon liittyy pikkuaivojen surkastumista ja lihassairautta, kuten verisuonten rappeutumista, rasvakudoksen liikakasvua ja omaa kudosta syöviä solurakkuloita. Myös karsastus ja laajentunut pikkuaivo-selkäydinsammio kuuluvat oireisiin.
Medical Genetics: Faculty: Wertelecki Superneau, DW, Wertelecki, W., Zellweger, H. Letter to the Editor The MarinescoSjogrenSyndrome Described a Quarter of a Century Before Marinesco. Am. http://www.southalabama.edu/genetics/wwer.htm
Extractions: Mobile, AL 36688-0002 MEDICAL EDUCATION: University of Buenos Aires School of Medicine - 1955-61; Assistant in Human Anatomy 1957-58; Assistant in Physiology, 1958-60; Internship, Muniz Hospital, Buenos Aires, 1961; Rotating Internship, Deaconess Hospital, St. Louis, Mo., 1962-63; Residency in Pediatrics, St. Louis Children's Hospital, Washington University Medical School, St. Louis 1963-65 POST-GRADUATE TRAINING: Research Fellow (Clinical Genetics), Harvard Medical School/Children's Hospital Medical Center, Boston, 1965-67 ACADEMIC AND OTHER APPOINTMENTS: Instructor of Pediatrics, Harvard Medical School/Children's Hospital Medical Center, Boston, MA 1967-68; Senior Surgeon (Commander), U.S. Public Health Commissioned Corps., National Cancer Institute, Epidemiology Branch, Bethesda, MD, 1968-70; National Institute of Health Consultant to the Bethesda Naval Medical Center; Assistant Professor, Dept. of Pediatrics, Medical University of South Carolina, Charleston, SC 1970-72; Chief, Division of Medical Genetics, Medical University of South Carolina, Charleston, SC 1970-74; Associate Professor, Departments of Pediatrics and Pathology, Medical University of South Carolina, 1972-74; Professor and Chairman, Department of Medical Genetics, University of South Alabama, Mobile, AL, 1974 - present.
Extractions: Listed below are journal publications by USA Faculty indexed in Index Medicus for August-September 1996. This list is generated from the address of the first listed author in MEDLINE and from Current Currents. Department chairs are also asked to submit citations of recent publications for their department members. If we missed your latest contribution to the literature, please let us know so we can include it in a future listing. New faculty are encouraged to submit their latest publications to the Editor. Ardell MD. Aragon I. Oliveira L. Porche GE. Burke E. Pittler SJ. The beta subunit of human rod photoreceptor cgmp-gated cation channel is generated from a complex transcription unit. FEBS Letters. 389(2):213-218, 1996 Jul 1. Bao LM. Zimmer WE. Balczon R. Autoepitope mapping of the centrosome autoantigen pcm-1 using scleroderma sera with anticentrosome autoantibodies. Autoimmunity. 22(4):219-228, 1995. Boerth SR. Artman M. Thyroid hormone regulates na+-ca2+ exchanger expression during postnatal maturation and in adult rabbit ventricular myocardium. Cardiovascular Research. 31(Special Issue SI):E 145-E 152, 1996 Feb. Bozner P. The heat shock response and major heat shock proteins of Tritrichomonas mobilensis and Tritrichomonas augusta. Journal of Parasitology. 82(1):103-11, 1996 Feb.
Extractions: Listed below are journal publications by USA Faculty indexed in MEDLINE and CINAHL for Feburary1998-July1998. This list is generated from the address of the first listed author in MEDLINE and from Current Currents. Department chairs are also asked to submit citations of recent publications for their department members. If we missed your latest contribution to the literature, please notify the Editor so it can be included in a future listing. New faculty are encouraged to submit their latest publications to the Editor. Almeida OD. Valgallas JM. Rizk B . Appendectomy under local anaesthesia following conscious pain mapping with microlaparoscopy. Human Reproduction . 13(3):588-590, 1998 Mar. Anglade D. Corboz M. Menaouar A. Parker JC. Sanou S. Bayat S. Benchetrit G. Grimbert FA. Blood flow vs. venous pressure effects on filtration coefficient in oleic acid-injured lung. Journal of Applied Physiology. 84(3):1011-1023, 1998 Mar. Armour JA. Collier K. Kember G. Ardell JL. Differential selectivity of cardiac neurons in separate intrathoracic autonomic ganglia.
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Extractions: 1997N ´M`AFF_oïaÌîñlbg[NB_o¡A14: 113-118,1997. Ikeuchi, T., Asaga,T., Saito,M., Tanaka,H., Higuchi,S., Tanaka,K., Saida,K., Uyama,E., Mizusawa,H., Fukuhara,N., Nonaka,I., Takamori,M., Tsuji,S.: The gene for autosomal recessive diatal myopathy with rimmed vacuoles maps to chromosome 9. Ann.Neurol.,41: 432-437, 1997. äpîAâK°êA´M`FMarchiafava-BignamiaÆsðBDementia JapanA11: 249-254, 1997. ´M`F¡NÌwïÌóÛBãzãtïñA53F19-20, 1997. äpîAkºG¾Aªº²vA´M`FW CÌnÌOI[VXªyxÈójÔjW CÌÞkÇ(DRPLA)Ì1UáBMBãwA45: 457-458, 1997. äpîAkºG¾Aªº²vAFA´M`FaÏÉärIêvµÄISfhOAànâ«üÌÌo»ðFß½I[u´¬]ÞkÇÌ1UáBMBãwA45: 461-462, 1997. Miki A, Nakajima T, Hasebe H, Abe H. :Related Articles Functional magnetic resonance imaging of visual function in postpapilledema optic atrophy.J. Neuroophthalmol., 17(4):223-5.1997. ´M`FLeigh]ÇBKey Words 1998-'99Ï«¾³i ìüMAöòMvAì¡¡ÒjAP.198-199, 1997.
