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  Bergen (ioi): CALL: various november 1996  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: CALL: various november 1996
From: "Bergen (ioi)" <A.A.BERGEN@AMC.UVA.NL>
Date: Fri, 6 Dec 1996 17:29:15 +0100

New CALLs; a diversity of issues, calls and offers for information,
collaboration and assitance.

Please send high-quality messages only.

Good CALLs

Arthur Bergen


From: c.finney@ic.ac.uk
To: A.A.Bergen@AMC.UVA.NL
Subject: Participation in genetic testing policy

Dr Bergen,
I believe that some subscribers of HUM-MOLGEN might be interested in the
public consultation exercise described below. Although it takes place in the
UK, the Advisory Committee has told me that they are interested in comments
from anywhere in the world. If you know of anybody else who might be
interested please pass the information on.

Many thanks,
Colin Finney
Imperial College / Science Museum
c.finney@ic.ac.uk         0171 938 9762

Please forward to interested individuals and mailing lists

I have just received permission from the UK _Advisory Committee on Genetic
Testing_ to open up their _Draft Code of Practice for Human Genetic Testing
Offered Commercially Direct to the Public_ consultation exercise to the
public. I have put the Draft code of practice on the Internet and set up a
discussion forum for it. The ACGT has agreed to monitor the discussion and
consider any comments made (regardless of where they originated) at their
next meeting. This is a huge advance in what UK advisory committees usually
do so I would like people to take advantage of it.

The URL is:
but you can get to it from the BIOSIS home page


Reply-to:      Daniel Darvish <Darvish@poboxes.com>
From:          Daniel Darvish <Darvish@poboxes.com>

Darvish@poboxes.com (Daniel Darvish) sent the following comments:

Dear Scientists, Doctors, and Colleagues:

I am searching for major center involved with gene therapy for
the treatment of genetic myopathies.  Any and all information will
be greatly appreciated.

Daniel Darvish, MD
Diplomat, American Board of Internal Medicine

Server protocol: HTTP/1.0
Remote host: s253n095.csun.edu
Remote IP address:


Reply-to:      James Reynolds <dh39744@goodnet.com>
From:          James Reynolds <dh39744@goodnet.com>

dh39744@goodnet.com (James Reynolds) sent the following comments:

I am looking for email regarding fibrolamellar HC written around September
1996.  I was out of town and a fellow reader had told me about it.  Yet
I am having a very difficult time finding this message.  Something to do
with therapy in Washington D.C. and a patient who had receved his 3rd course of
treatment of surgery with chemotherapy.  If you could find this info please
send me the email message.  Thanks.


Reply-to:      Human Molecular Genetics Editors <ED-MOLGEN@NIC.SURFNET.NL>
From:          "Pascal KAHLEM" <kahlemp@EXT.JUSSIEU.FR>
Subject:       Associations

This  message  was  originally   submitted  by  kahlemp@EXT.JUSSIEU.FR  to  the


we are working on genetic neurodegenerative diseases such as DRPLA, SBMA,
SCA 1, 2, 3, 7, and Huntington Chorea in France. We are looking for associations of patients for thoses diseases in the world. We already have found one in
France that is "Association Huntington-France", but it is very difficult to
search for those abroad.
We would be pleased to be informed about any other organisation.
Please feel free to contact : P. KAHLEM: kahlemp@ext.jussieu.fr


P. Kahlem

Subject: (Fwd) Psychological genetics

This  message  was  originally   submitted  by  MartinNC@CARDIFF.AC.UK  to  the

Hi, I'm a first year PhD student in Cardiff and I'd like to find
out more about recent genetic studies on alcoholism, hyperactivity, and
autism. Any information on any of these topics would be greatly
Please reply to martinnc@cardiff.ac.uk


From:          "Prof Dr Jai Rup Singh, Coordinator," <uucp@GNDU.ERNET.IN>
X-To:          hum-molgen@HEARN.NIC.SURFNET.NL

Dear Sir,

        Can any one provide me detailed information about Canadian
Genealogical Disease Network (CGDN) or the contact address.

        Gen Trak, USA was developing a DNA test for Beta Thalassemia.
Can any one provide me its address and information about the
availability of this test on my contact address:

Prof Dr Jai Rup Singh
Centre for Genetic Disorders, GNDU, Amritsar, India
E-Mail cgd @ gndu.ernet.in
Fax: +91-183-258863, 258820

Subject: Request for collaboration/information

>Okay! Okay! Okay! I know this is a Human Molecular Genetics network....but
>here is a request related to some fowl studies:
>We have established lines (divergent and partially inbred) of chickens that
>are about 4 std dev different for the incidence of Tibial Dyschondroplasia.
>Genes for similar dysplasias have been reported in humans etc. Is there
>anybody out there interested in using/ working with us to find the QTLs
>responsible for these using information from the genes identified in humans?
>Ed Smith
>Animal Genetics Lab
>Tuskegee University, Tuskegee, AL 36088

Reply-to:      silvia priori <silvia.priori@netitalia.it>
From:          silvia priori <silvia.priori@netitalia.it>
Subject:       long QT syndorme

silvia.priori@netitalia.it (silvia priori) sent the following comments:

I am a cardiologist involved in long QT syndrome genotyping,
I would like to share data and experience with other investigators
involved in this disease.
I am also looking for the restriction enzyme BceFI (acggc 12/13)
to confirma a de novo mutation on hERG in a sporadic case of LQTS.
In Italy I haven't been able to find a company selling this enzyme
. Can anyone help?

Silvia G Priori, MD, PhD
University of Milan
Centro Fisiologia Clinica e Ipertensione
Via F Sforza 35
20122 Milan, italy

Server protocol: HTTP/1.0
Remote host: sli5.netitalia.it
Remote IP address:


Reply-to:      Walter Oleschko Arruda <warruda@cwbone.bsi.com.br>
From:          Walter Oleschko Arruda <warruda@cwbone.bsi.com.br>
Subject:       Urbath-Wiethe syndrome

We would like to develop linkage studies in a family with Urbath-Wiethe (
lipoidproteinosis) with two members affected out of a kindred of 7 with
both parents alive.
Further details may be sent upon request.

Prof. Walter Oleschko Arruda
Department of Neurology
Hospital de Clmnicas
Universidade Federal do Parana
Rua General Carneiro 181
80060-900 Curitiba, PR

FAX 55-41-243-2450
Server protocol: HTTP/1.0
Remote host: cwbone.bsi.com.br
Remote IP address:


Reply-to:      Human Molecular Genetics Editors <ED-MOLGEN@NIC.SURFNET.NL>
From:          "Yuanli Zhao(WWW)." <zhaoyljt@PUBLIC3.BTA.NET.CN>

This  message was  originally submitted  by zhaoyljt@PUBLIC3.BTA.NET.CN  to the

Dear Sir,
I am a neurosurgeon of Beijing Tiantan Hospital.
I am interested in etiology of intracranial aneurysm,I knew that many of
aneurysm is congenital, and have a genetic trend. And in some aneurysm family,
their serum lipoprotein(a) level is higher. The attack of aneurysm is also
associated with human's food.In weatern country and Japan, the incident rate of
aneurysm is high,but in China and other Eastern country, it was low. Now our
research group want to do some study of it.Would you like to give me some useful
information just like article, abstract or anything else.
My address is :
Zhao Yuanli M.D.
Department of neurosurgery
Beijing Tiantan Hospital
Tiantanxili 6
Beijing, 100050
E-mail address: zhaoyljt@public3.bta.net.cn

thanks a lot.

Zhao yl. 96-12-4 9pm

From:          Ben-Moshe <boazjana@SHANI.NET>

This message was  originally submitted by boazjana@SHANI.NET  to the HUM-MOLGEN

> The Inborn Errors of Metabolism Family Support List(IEM) is for
>  discussions and support of the families with kids or adults having
>  IEM. Those who have these problems are also welcome to participate.
>  Discussions can be about technical information, medications, sources
>  of support, daily problems or anything effecting the family and
>  patients life. Professionals in the field are welcome to join the
>  list, participate and contribute.
>   -------------------------------------------------------------------
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>     In the body of the message type ONLY: subscribe iem-family
>    To Unsubscribe send a message To: iem-family-request@just4u.com
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From:          jeff weaver <pmj_w1@GANNONLAB.GANNON.EDU>
Subject:       viability of monosomy-21

To whom it may concern,
I was referred to HUM-MOLGEN by OMIM, maybe you may be able to answer my
What is the viability percent for a mono-21?  Our text book states very
few reported cases, but goes on to list some phenotypes.
jeff weaver

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