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  Robert Resta: DIAG (7 messages)  

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG (7 messages)
From: Robert Resta <bc928@scn.org>
Date: Thu, 5 Dec 1996 07:07:13 -0800

The following 7 messages were submitted to the DIAG Section of HUM-MOLGEN.
Replies can be made directly to the originators of the messages. The
messages will also be posted at the HUM-MOLGEN Website


1) From: Daniel Darvish <Darvish@poboxes.com> Subject: Gene Therapy For

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

2) From: "Suthers, Graeme (MED_GEN)" <suthersg@WCH.SA.GOV.AU>
Subject:      DIAG: RP3 mutation studies

Dear Colleague,

I am counselling a family (GF0672) with X-linked retinitis pigmentosa. The
probability that the gene responsible is located between RP2 and RP3 is
>99%, but there are no recombinants between the two genes and hence I do not
know which gene is invloved. The family are VERY keen to have mutation
studies performed to clarify carrier risks and enable accurate prenatal

Is anyone offering to do RP3 mutation studies? If so, how much would it
cost? Would you require a cell line for preparing RNA? If there is
prepayment, would you offer a discount for RP2 mutation studies once that
gene is cloned!

Thank you for your assistance.

Yours sincerely,

Graeme Suthers.

Dr Graeme Suthers
SA Clinical Genetics Service
Centre for Medical Genetics
Women's & Children's Hospital
North Adelaide SA 5006

tel  (08) 8204 7375 (International prefix -61-8-) NEW!
fax  (08) 8204 6088 (International prefix -61-8-) NEW!
email      suthersg@wch.sa.gov.au (Using MSmail)

3) From: fiona field <ffield@uic.edu>
Subject:      LAD(CD18/CD11)

Does anyone know of any labs offering prenatal dx for leukocyte adhesion
disorder(CD18/CD11 type)???  We have a family with a prior affected that is
deceased.  Thanks...
Fiona M. Field, MS, CGC
Genetic Counselor
University of Illinois at Chicago
Maternal-Fetal Medicine Center
1919 W. Taylor  M/C 650
Chicago, IL  60612
(312) 996-9134
(312) 996-6000 fax

4) From: Robin Winter <rwinter@ICH.UCL.AC.UK>
Organization: Institute of Child Health
Subject: Patient with 47,XXX,t(8;10)(q22.1;q24.1)

We have seen a 6-year old child with a de novo, apparently
balanced, 47,XXX,t(8;10)(q22.1;q24.1) karyotype. Developmental delay,
particularly speech, is more severe than one would expect for triple X.
The parents are keen for further work to be done on the translocation. Is
anyone interested in a cell line ?

RM Winter,
Mothercare Unit of  Clinical Genetics,
and Fetal Medicine,
Institute of Child Health,
30 Guilford Street
London, WC1N IEH
Tel:  0171 242 9789 ext: 2108
Fax: 0171 831 0488
Email RWinter@ich.ucl.ac.uk

5) From: Associazione Ricerca Neurogenetica <arn@atcenter.it>
Subject:      L1CAM

I would like to know who can search for L1CAM mutations in a boy affected by
probable Bickers Adams syndrome. Her mother have asked me for recurrence
risk, before a second pregnancy. Both the mother and the child have been
collected and their DNA was extracted and stored.

Thank you

Maria Paola Montesi

Centro di Neurogenetica ASL 6
Nuovo Ospedale, Via Perugini
88046 Lamezia Terme, Italy
tel 39 968 463132
fax 39 968 462413
e-mail: arn@atcenter.it
6) From: "Yuanli Zhao(WWW)." <zhaoyljt@public3.bta.net.cn>
Subject:      some knowledge of intracranial aneurysm

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
7) From:  Patient Request
Subject:      Riedel's thyroiditis
Reply to:         HUM-MOLGEN@nic.surfnet.nl

Is there anybody out there who knows something about Riedel's struma
(thyroiditis)? I'd be grateful for hints about relevant literature and
possible therapies. I am a genetics researcher, but I am seeking this
information for a friend with the disorder.

Thank you


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