81. Centre For Human Genetics Seminars - November 1997 GOS Hospital Lecture Theatre. Tuesday 25th November 97. 12.30 Mapping Xq22 andAlport syndrome. Wayne Evans, Division of Medical and Molecular genetics, UMDS. http://www.gene.ucl.ac.uk/chg/semsnov.htm

Seminars related to Human Genetics in the Greater UCL week by week. November 1997 Week Starting Monday 3rd November 1997 Week Starting Monday 10th November 1997 Week Starting Monday 17th November 1997 Week Starting Monday 24th November 1997 Week Starting Monday 3rd November 1997 Tuesday 4th November 97 12.30 Genetics of colorectal cancer Sir Walter Bodmer, Institute for Molecular Medicine, John Radcliffe Hospital, Oxford Gowland Hopkins Lecture Theatre, Medical School Basement (Host: Ellen Soloman) 16.30 A new method to isolate novel genes for the mouse embryo Dr Dianne Gerrelli, Neural Development Unit, ICH Seminar Room, Level 7, Cardiac Wing, ICH 17.00 Craniosynostosis: Towards a Molecular pathology... Mr Jonathan Britto, Developmental Biology Unit, ICH Seminar Room, Level 7, Cardiac Wing, ICH Friday 7th November 97 13.00 What molecular evolution and genetic disease can tell us about protein targeting Dr Chris Danpure, LMCB, Dept of Biology, UCL Lankester Theatre, Medawar Building, UCL Week Starting Monday 10th November 1997 Monday 10th November 97 13.00 Rising trends in atopy: why?

82. CCDD: Physician: Education: Topics I would strongly recommend a formal genetics diagnostic consultation alport Syndromeinvolves progressive glomerulonephritis often associated with progressive http://www.hopkinsmedicine.org/craniofacial/Education/TopicsGeneticDeaf.cfm?Cate

83. Welcome To The Chromosomes Directory The genetics pages display information on the genetic disorders of the chromosomeby the specific Is about chromosomal disorders including Klinefelters syndrome http://www.snowcrest.net/starwalker/Chromosomes/

Welcome to the Chromosomes Directory Menu Genetics Intersexed Klinefelters KS Links ... Support Groups Support Groups Intersexed Directory Intersexed Homepage Causes Guests Index Links Medical Murk Manual Pain WE Welcome KS Directory KS Homepage ABC D-H I-L M-P R-Z About Me Gender Dreams Genes Software Genetics Genomes Genotypes Biblio Index 2 Index Genetic Info. Genetics Homepage Disorders Genes Index Gene Maps Gene Menu Macro Map Symbols Methods MF MIM Links Gene Maps 2/2001 Gene Maps Homepage X / Y XXY directories XXY Links Homepage FRAMES Main XXY Page Genetics Intersexed Contact Us Birth Designs Lesson XXY Support KS Information KS Links Chromo Links Circumcision Reproduction Books On KS Intersex intersex Lists mosaicism 500 Listings Main ChromOsome Disorders Genetics The Genetics pages display information on the genetic disorders of the chromosome by the specific genes on the chromosomes. National Support Groups - Information Sites Genetic Disorders (small) Genetic Disorders (large) Alport Syndrome Home Page ... Intersex Is about some of the causes of intersexed conditions. Links Intersex Newsletters INTERSEXISM IN SPORTS UK Intersex Association (UKIA) Some users have complained that they cannot access the ISNA ORG website. (

84. CancerGene DL* Diffuse leiomyomatosis with alport syndrome. Locus, Xq22. Anker MC;Arnemann J;NeumannK;Ahrens P;Schmidt H;Konig R alport syndrome with diffuse leiomyomatosis. http://caroll.vjf.cnrs.fr/cancergene/CG929.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol DL Aliases DL-ATS Name Diffuse leiomyomatosis with Alport syndrome Locus OMIM GDB SwissProt LocusLink DL Class DISORDER Diseases Esophageal Neoplasms; Leiomyomatosis; Nephritis, Hereditary Note Diffuse leiomyomatosis (DL) with Alport syndrome (AS) has been shown to be associated with contiguous gene deletions of the COL4A5 and COL4A6 genes, with the COL4A6 breakpoint of the deletions invariably located in the large intron 2 of the gene. Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Recent Articles : Thielen BK;Barker DF;Nelson RD;Zhou J;Kren SM;Segal Y Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth. Hum Mutat 2003 Nov;22(5):419. Anker MC;Arnemann J;Neumann K;Ahrens P;Schmidt H;Konig R Alport syndrome with diffuse leiomyomatosis. Am J Med Genet 2003 Jun 15;119A(3):381-5. Segal Y;Peissel B;Renieri A;de Marchi M;Ballabio A;Pei Y;Zhou J LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.

85. The Genetics Of Renal Disease - Oxford Monographs On Medical Genetics, No. 48F Young 7 Primary hereditary nephropathies 167(16) Karl Tryggvason 8 alport syndrome183(20 20) kidney Margaret Town and William van t Hoff 13 genetics of stone http://bookweb.kinokuniya.co.jp/guest/cgi-bin/booksea.cgi?ISBN=0192631462

86. Molecular Genetics (DNA) Laboratory is a member of the London Molecular genetics Consortium and Achondroplasia; Alportsyndrome; Alzheimer s disease, familial (type 3); Amyotrophic lateral sclerosis http://www.guysandstthomas.nhs.uk/page2059.htm

Acute medicine Cancer and haematology services Cardiothoracic services Children's services and Genetics Dental services Diagnostic and therapeutic services Perioperative medicine Renal and urological services Specialist medicine Surgery Women's services Evelina Children's Hospital Genetics Centre Molecular Genetics (DNA) Laboratory Available genetic tests DNA Banking Sending samples for DNA testing The CPA (Clinical Pathology Accreditation UK Ltd) accredited Diagnostic DNA Laboratory (NHS) provides a clinical diagnostic service for a range of genetic disorders. Director: Stephen Abbs PhD MRCPath SRCS Tel: 020 7188 1696 (technical enquiries) Fax: Location: 7th Floor (lab) and 8th Floor (office), Guy's Tower, Guy's Hospital Specimen Reception: 8th Floor, Guy's Tower, Guy's Hospital For queries about referring patients for DNA testing, please contact the Clinic on 020 7188 1364 Available Genetic Tests The Laboratory is a member of the London Molecular Genetics Consortium and the UK Molecular Genetic Testing Network. Under these schemes testing services are rationalised so that referrals are made to the patient's local laboratory, and if the test is not available locally, the DNA is extracted and forwarded to the appropriate laboratory that does offer the test.

87. Extenza - Ophthalmic Genetics Ophthalmic genetics. Absence of ocular manifestations in autosomal dominant Alportsyndrome associated with haematological abnormalties Authors D. Colville, YY http://www.extenza-eps.com/extenza/contentviewing/viewJournalIssueTOC.do?issueId

88. Physiology Department Faculty And Their Research pathology. Tryggvason K (ed) Molecular Pathology and genetics of AlportSyndrome, Contrib Nephrol. Basel, Karger, 117128, 1996. http://medlib.med.utah.edu/physio/faculty/barker.html

DAVID F. BARKER Research Associate Professor email: david.f.barker@m.cc.utah.edu Education Research Interests Publications Education September 1971 - June 1975: Massachusetts Institute of Technology, Bachelor of Science in Life Sciences September 1975 - August 1980: Stanford University Department of Biological Sciences, Ph.D. awarded Oct. 2, 1980 September 1980 - January 1984: Howard Hughes Medical Institute, University of Utah Medical School, Post-doctoral research with Professor Raymond L. White Research Interests Dr. Barker's interests include the genetic basis of inherited susceptibility to disease in individuals and populations. One area of current research focus is on the disease genetics of type IV collagens, which are involved in susceptibility to renal failure, hearing loss and other pathological conditions caused by abnormal basement membranes. A second focus is on the contribution of specific genomic rearrangements to the etiology of sporadic breast cancer. High molecular weight DNA samples have been prepared from over 1000 sporadic breast tumors and these are being examined for rearrangements in specific genes for which changes in expression may contribute to the development of neoplasia. Publications (Go to the complete list in PDF Format.)

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