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To: HUM-MOLGEN@NIC.SURFNET.NL Subject: NEWS:& DIAG: recent HUM-MOLGEN WWW postings From: "Frank S. Zollmann" <zoll@ovid.ukbf.fu-berlin.de> Date: Tue, 2 May 2000 18:09:27 +0200 ---------------------- Sponsored by LabOnWeb.com ---------------------- LabOnWeb (http://www.labonweb.com) combines state-of-the-art algorithms with proprietary databases to provide the most comprehensive and accurate gene discovery platform. Powered by Compugen the LabOnWeb research engine includes: InstantRACE sequence elongation and primer design, SAGE (TM) based expression profiles (both public and proprietary data are available), comprehensive homology search and complete genomic analysis. Join the service at https://www.labonweb.com/cgi-bin/FLoW/frame.cgi?show=join and get 6 free searches. ---------------------------------------------------------------------------- This mail summarizes selected new announcements at our WWW site http://hum-molgen.de. To post a message go to http://hum-molgen.de/main.php3, select the appropriate topic and choose the <post new topic> option via the Quickfinder. Thanks for your interest. Frank S. Zollmann (Editor HUM-MOLGEN) Diagnostics - Clinical Research 1) Congenital heart defect, facial abnormality, Hirschsprung's disease 2) Samples of Medical interest for Mass analysis 3) Seeking cases: ataxia with hypogonadism 4) DiGeorge/Velocardiofacial Syndrome/congenital heart defect Internet Resources in Human Genetics 5) New gene homology tool 6) Atlas of Genetics and Cytogenetics in Oncology and Haematology Biotechnical Requests and Sources 7) Genechips or Microarray for thrombosis Biomedical Positions ---------------------------------------------------------------------------- 1) Congenital heart defect, facial abnormality, Hirschsprung's disease Call for Patients: Patients with congenital heart disease: cardiac outflow tract malformations associated with facial abnormalities or with Hirschsprung's disease We are interested in DNA samples from patients for mutational analysis of genes of the endothelin system. If available, parental samples would be helpful. We are looking forward to your kind response. Contact: Hans-Dieter Orzechowski, MD Heiko Funke-Kaiser, MD Institute of Clinical Pharmacology and Toxicology - WHO Collaborating Centre for Developmental Toxicology Benjamin Franklin Medical Center, Freie Universität Berlin Hindenburgdamm 30, 12200 Berlin, GERMANY phone: +49-30-8445 2288/89, fax: +49-30-8445 4482 email: orzechowski@medizin.fu-berlin.de, funke-kaiser@medizin.fu-berlin.de http://www.medizin.fu-berlin.de/index_e.html 2) Samples of Medical interest for Mass analysis Dear collegues and Scientists, We at molecular biophysics Unit run a Mass spectrometry facility and using electrospray and MALDI techniques, we are studying various samples of medical interest like Hemoglobins isolated from various groups of indian blood isolates. We also are comparing many urine, cerebrospinal fluid and plasma samples of normal and patients suffering from diabetes, thalassemia and a few other disorders. We have generated a substantial database of mass fingerprints of these samples. We would be interested to look for the above mentioned samples from patients suffering from rare medical disorders as often mentioned in MOLGEN. In order to do this we only need a few microlitres as MS analysis of any kind is very highly sensitive. Regards, Kumar Singh S. KUMAR SINGH, Ph.D student IV year MOLECULAR BIOPHYSICS UNIT, INDIAN INSTITUTE OF SCIENCE BANGALORE 560 012 sksingh@mbu.iisc.ernet.in, ph:lab 080-3092337 3) Seeking cases: ataxia with hypogonadism The following brief case description is for circulation to the neurology, neurogenetics and endocrine communities worldwide, seeking additional kindreds possibly carrying the same mutation. Clinical description: We report a Palestinian family with a young-adult-onset neurodegenerative disorder characterized by progressive ataxia and dementia, and hypogonadotrophic hypogonadism. Transmission appears to be autosomal recessive (AR). The degree of hypogonadism is variable, with a spectrum of manifestations ranging from delayed or incomplete puberty to adult infertility. Other endocrine functions appear normal. The endocrine manifestations may precede neurologic symptoms by several years. Eye movements may be normal. There are no seizures. Differential diagnosis: --The syndrome differs from Kallman syndrome in its AR transmission and normal sense of smell. --The syndrome differs from Boucher-Neuhauser syndrome because of normal chorio-retinal appearance and visual function. --The syndrome differs from Friedreich ataxia because of the absence of peripheral nerve dysfunction. Genetic characterization: Genetic testing in our index case has ruled out known mutations causing familial ataxia. An effort to map the faulty gene would be aided by the identification of other families with the same mutation. Contact information: If you have seen cases that appear similar, please contact: David H. Margolin, MD, PhD Department of Neurology / ACC-835, Massachusetts General Hospital Boston, Massachusetts, USA 02114 Phone 617-667-2394, Fax 617-667-8210 Email David_Margolin@caregroup.harvard.edu 4) DiGeorge/Velocardiofacial Syndrome/congenital heart defect Call for Patients: DiGeorge/VCFS without Chromosome 22q11 Deletion We are interested in DNA samples from patients with a clinical diagnosis of probable DiGeorge/velocardiofacial syndrome but no deletion at 22q11 for our on going point mutation screening programme. Patients with congenital heart defects seen in DGS/VCFS will also be welcomed. It would be helpful, but not essential, if parental samples were also available. Contact person: Prof. Peter Scambler, Room 211, Molecular Medicine Unit, Institute of Child Health, 30 Guilford St., LONDON WC1N 1EH UK Tel 44 207 905 2635 email p.scambler@ich.ucl.ac.uk pscamble@hgmp.mrc.ac.uk http://www.ich.ucl.ac.uk/units/unitdes.html 5) New gene homology tool HomoloGene is a new service which compares the nucleotide sequences between pairs of organisms, including human, mouse, rat, and zebrafish, in order to identify putative orthologs. Curated orthologs are incorporated from a variety of sources via LocusLink. http://www.ncbi.nlm.nih.gov/HomoloGene/ 6) Atlas of Genetics and Cytogenetics in Oncology and Haematology The Atlas of Genetics and Cytogenetics in Oncology and Haematology is, by nature, a cooperative process of reviewing and updating on somatic genetics, clinical entities in cancer, and on cancer-prone diseases, with the aim of covering the entire field under study: as the task is huge, the Atlas is -and will be- incomplete by that very fact; it is made for and by: cytogeneticists, molecular biologists, and geneticists in general,clinicians in oncology and in haematology, pathologists and cytologists. http://www.infobiogen.fr/services/chromcancer Dr Alain Bernheim Laboratoire de genomique cellulaire des cancers, UMR 1599 CNRS, Institut Gustave Roussy, 39 rue Camille Desmoulins, 94805 Paris-Villejuif Cedex, France. Tel. 33 (0)1 42-11-54-16. Fax. 33 (0)1 42-11-52-60. email: bernheim@igr.fr 7) Genechips or Microarray for thrombosis Does anyone know of an academic or industry lab developing a genechip or microarray for hemostasis and thrombotic disorders? We would like to assist or partner in this area. Henry Chang changh@nih.gov Biomedical Positions Cancer Research: POST DOCTORAL POSITION NATIONAL CANCER INSTITUTE, MILAN, ITALY, MILANO CARLO GAMBACORTI (GAMBACORTI@ISTITUTOTUMORI.MI.IT) http://hum-molgen.de/positions/postdocs/1263.html Genetics: POST-DOCTORAL FELLOW EMORY UNIVERSITY, Atlanta, GA 30322 Judith L. Fridovich-Keil, Ph.D., Assoc. Professor (jfridov@emory.edu) http://hum-molgen.de/positions/postdocs/1279.html Genetics: PhD student Clinical Research Group, Child and Adolescent Psychiatry, D-35039 Marburg, Germany Dr. Anke Hinney (hinneya@post.med.uni-marburg.de) http://hum-molgen.de/positions/predoctoral/0223.html Cell and Molecular Biology / Anatomy: Post doctoral fellow University of Virginia, Charlottesville, Virginia 22908-0732 USA Gordon W. Laurie (gwl6s@virginia.edu) http://hum-molgen.de/positions/postdocs/1272.html Biochemistry / Immunology: Postdoctoral Fellow University of Texas M. D. Anderson Cancer Center, Houston, Texas, 77030-4009 USA Michael W. Van Dyke, Ph.D., Associate Professor (mishko@odin.mdacc.tmc.edu) http://hum-molgen.de/positions/postdocs/1260.html Cancer Research: Post-doc in Lung Cancer Duke University Medical Center, Durham, NC 27705 USA Michael J. Kelley, Assist. Prof. (kelleym@duke.edu) http://hum-molgen.de/positions/postdocs/1261.html Pharmacology and Toxicology: Post-doctoral fellow or Predoctoral student Rudolf-Buchheim-Institute for Pharmacology, Giessen, Germany, 35392 Giessen, Germany Harald Schmidt, MD PhD (harald.schmidt@pharma.med.uni-giessen.de) http://hum-molgen.de/positions/postdocs/1256.html Pharmacology and Toxicology: PhD student University of Giessen, Germany, 35392 Giessen, Germany Harald Schmidt, MD PhD, Professor & Chairman (harald.schmidt@pharma.med.uni-giessen.de) http://hum-molgen.de/positions/predoctoral/0221.html Molecular Diagnostics: Male Reproductive Biology-Research Scientist via Fortune Personnel Consultants of Bend, Bend, Oregon USA 97701 PETE SEIDEL-Division Directo (pseidel@fpcbend.com) http://hum-molgen.de/positions/non_academic_positions/0421.html Cancer Research: ANALYTICAL CHEMIST-Biomedicinal Chemistry via PETE SEIDEL - Fortune Personnel Consultants of Bend, Bend, Oregon 97701 PETE SEIDEL (pseidel@fpcbend.com) http://hum-molgen.de/positions/non_academic_positions/0422.html Others: Medical Laboratory Technician Purdue University, West Lafayette, IN 47907-1126 Attn: Code WEINHUM2 (resumes@purdue.edu) http://hum-molgen.de/positions/academic_positions/0057.html Biochemistry / Immunology: Leukocyte/Endothelial Cell Biologist LigoCyte Pharmaceuticals, Inc., Bozeman, MT 59718 Robert F. Bargatze (ligocyte@imt.net) http://hum-molgen.de/positions/postdocs/1267.html Biochemistry / Immunology: Lecturers Lancaster University, Lancaster, LA1 4YW, UK Personnel Services, Reference A335 (personnel@lancaster.ac.uk) http://hum-molgen.de/positions/assistant/0096.html Cell and Molecular Biology / Anatomy: POST-DOCTORAL RESEARCH SCIENTIST Univ.-Children's Hospital Zurich, Zurich, CH-8032, Switzerland Johann Peter Hossle, Ph.D. (hosslejp@kispi.unizh.ch) http://hum-molgen.de/positions/postdocs/1282.html Physiology / Biophysics: Ludwig Engel Postdoctoral Fellowship Meakins-Christie Laboratories, McGill University, Montreal, Quebec, H2X 2P2, Canada Ms. Angie Bentivegna (AngieB@Meakins.LAN.McGill.CA) http://hum-molgen.de/positions/postdocs/1258.html Biotechnology: BIOCHEMISTS, BIOLOGISTS, MOLECULAR BIOLOGISTS - GENE MINING Genesis R&D, Auckland, Dr Arie Geursen, Head of Human Resources (a.geursen@genesis.co.nz) http://hum-molgen.de/positions/non_academic_positions/0419.html Biochemistry / Immunology: Ludwig Engel Postdoctoral Fellowship Meakins-Christie Laboratories, McGill University, Montreal, Quebec, H2X 2P2, Canada Ms. Angie Bentivegna (AngieB@Meakins.LAN.McGill.CA) http://hum-molgen.de/positions/postdocs/1257.html Biochemistry / Immunology: Post-doctoral fellow Medizinische Hochschule Hannover, Hannover, 30625, GERMANY Harald Mischak (mischak@gmx.net) http://hum-molgen.de/positions/postdocs/1278.html Biotechnology: POST-DOCTORAL position for an experienced Molecular Biologist INRA, Rennes, 35042, France P. Boyaval, head of Microbiology Group (boyaval@labtechno.roazhon.inra.fr) http://hum-molgen.de/positions/postdocs/1262.html Cell and Molecular Biology / Anatomy: Associate and Senior Scientist-Functional Genomics Athersys, Inc., Cleveland, OH 44115-2634 Bill Busby (bbusby@athersys.com) http://hum-molgen.de/positions/non_academic_positions/0420.html Others: Staff Physician Purdue University, West Lafayette, IN 47907-1126 Purdue University (resumes@purdue.edu) http://hum-molgen.de/positions/academic_positions/0058.html Biotechnology: postdoctoral fellow Novartis Pharmaceuticals, USA Susan Zusman, Executive Director (susan.Zusman@pharma.novartis.com) http://hum-molgen.de/positions/postdocs/1280.html Genetics: postdoctoral fellow Novartis Pharmaceuticals, USA Susan Zusman, Executive Director (susan.Zusman@pharma.novartis.com) http://hum-molgen.de/positions/postdocs/1281.html Cancer Research: Postdoctoral/Research Associate University of Texas MD Anderson Cancer Center, Houston, TX 77030 Sadhan Majumder, Ph. D. (MAJUMDER@MDANDERSON.ORG) http://hum-molgen.de/positions/postdocs/1274.html Cell and Molecular Biology / Anatomy: Postdoctoral/Research Associate University of Texas MD Anderson Cancer Center, Houston, TX 77030 Sadhan Majumder, Ph. D. (MAJUMDER@MDANDERSON.ORG) http://hum-molgen.de/positions/postdocs/1275.html Cancer Research: Post-doctoral fellow CBER, FDA, Bethesda, MD 20892-4555, USA Richard A.J. Janssen, Ph.D. c/o Ezio Bonvini, Ph.D. (r.janssen@att.net) http://hum-molgen.de/positions/postdocs/1264.html If you want to "switch off" the NEWS-TOPIC, send SET HUM-MOLGEN TOPICS: -NEWS to LISTSERV@NIC.SURFNET.NL (not to HUM-MOLGEN itself) --
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