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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

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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 Universitšt 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     Fax 44 207 831 0488 (or 404 6191)
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)



--

  |   Frank S. Zollmann                                               
  |                                                                   
  |   HUM-MOLGEN - International Communication Forum in Human Genetics  
  |      - http://hum-molgen.de & http://linkage.rockefeller.edu/hum-molgen/
  |                                                                   
  |     Phone/SMS/Fax:  +49 177 318-0146        Phone: +49 30 8445 2288  
  |     E-mail:         Zollmann@hum-molgen.de, zollmann@medizin.fu-berlin.de         
  |     PGP:            available  
   
 
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