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  Bergen (ioi): CALL: June 1997 various  
   

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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: CALL: June 1997 various
From: "Bergen (ioi)" <A.A.BERGEN@AMC.UVA.NL>
Date: Thu, 19 Jun 1997 10:18:19 +0200

New CALLs!

The CALL section is open for requests and offers of information,
collaboration, help, finding persons or telephone numbers (NOT related
to diagnostic issues or patient requests), out-of print books and all other
kinds of non-trivial information-exchange.

You can reach over 4250 of your colleagues, and on average you may
expect up to twenty replies to a single message. This service is
absolutely FREE of charge. Help yourself by helping your colleagues!

-Please send high quality messages only, including full name, address
 and purpose.
-Please use the appropraite TOPIC subject heading in your message.
-Please state non-trivial questions only.
-Please reply by private E-mail only, unless your request is of
 general interest to the entire HUM-MOLGEN community

Other messages may be refused without further notification.

Good CALLs!!

Ann Schofield
Arthur Bergen

(CALL editors)

************************************************************************
THIS MESSAGE CONTAINS THE FOLLOWING:

1) Request for Known carnitine palmitoyl transferase-deficient tissue/leukocytes
2) Request for collaboration on Hereditary neuralgic amyotrophy (HNA)
3) Molecular Genetics overview request
4) Clinical Genetics exam questions via the internet

************************************************************************
1) Request for Known carnitine palmitoyl transferase-deficient tissue/leukocytes

My colleagues and I are doing research on carnitine palmitoyl transferase
2 (CPT2) deficiency in humans. We are setting up molecular analyses for
the known mutations (approx. 10) and need positive specimens especially
for the Pro50His mutation. Once we have established our detection system for
the known mutations, we will begin to identify new mutations in the gene
among individuals who do not have any of the known mutations. We would
approeciate any assistance available from colleagues.

Thank you.

Georgirene D. Vladutiu, Ph.D.
Associate Professor of Pediatrics & Neurology
School of Medicine & Biomedical Sciences
State University of New York at Buffalo
936 Delaware Avenue
Buffalo, NY 14209
Phone: (716)878-

Email: gdv@acsu.buffalo.edu

************************************************************************

2) This  message  was  originally  submitted  by
stogbau@UNI-MUENSTER.DE to  the
HUM-MOLGEN list at  NIC.SURFNET.NL.

Dear Ladies and gentlemen!

Refinement of the hereditary neuralgic amyotrophy (HNA) locus

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant, recurrent
focal neuropathy characterized by episodes of painful brachial plexus
neuropathy with muscle weakness and atrophy, as well as sensory
disturbances. Single episodes are commonly preceded by unspecific
infections or immunization, or are associated with parturition. Minor
facial dysmorphic features are present in some pedigrees but do not clearly
segregate with the disease. To confirm the recently described HNA locus on
distal chromosome 17q, we performed a genetic linkage study in an extended
Turkish pedigree. We were able to refine the HNA locus on chromosome
17q24-q25 in a 16 cM region (St-gbauer et al., Hum.Genet. 99:1997:685-687).
In order to further refine the locus we are searching for more HNA families
to find more recombination events.

We would be grateful for collaboration with other groups who are aware of
HNA families.

Please contact:
Florian St-gbauer
Klinik und Poliklinik f r Neurologie
WWU M nster
Albert Schweitzer Str. 33
48129 M nster, Germany
+49-251-8348178
stogbau@uni-muenster.de

************************************************************************

3) Funkymonk@hotmail.com (Jeremy Dowe) sent the following comments:

------------------------------------------------------------
Sir/Maddam,
           As a student of the Southport School, Queensland
Australia I am requesting for your assistance with a Yr12
Biology Assignment with my chosen topic of Molecular Genetics
I would appreciate any relevant information involving a general
overview of the topic.

Thank-you
J.Dowe

************************************************************************

4) This  message  was originally  submitted  by
nvtom@LINK.CYTSPB.RSSI.RU to  the
HUM-MOLGEN list at  NIC.SURFNET.NL.

I am interested to have typical examination questions in medical and
clinical genetics via Internet. Please, let me know where I could get
them.

Thank you in advance,

N.Tomilin, Ph.D., M.D.
********************************************************************

******************************************************************

IMPORTANT MESSAGE: Please note that my e-mail address has changed to:

ann.s@sc.dce.ac.nz

******************************************************************
Ann Schofield
Dunedin College of Education            44 Isabella Street
Southland Campus                        Invercargill
100 Nelson Street
Invercargill                            Tel: (03) 217 5028
New Zealand

FAX: (03) 216 1399
******************************************************************
************************************************************************
Dr. Arthur A.B. Bergen
Department of Ophthalmogenetics
The Netherlands Ophthalmic Research Institute (IOI)
Royal Academy of Sciences of the Netherlands (KNAW)

** Snail-mail: **           ** FAX: **             ** E-mail: **

P.O.Box 12141               (+31)206916521         A.Bergen@IOI.KNAW.NL
1100 AC  Amsterdam
The Netherlands
************************************************************************


   
 
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