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  Carlo Gambacorti: DIAG: 7 messages  
   

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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL>
Subject: DIAG: 7 messages
From: Carlo Gambacorti <GAMBACORTI@ICIL64.CILEA.IT>
Date: Mon, 27 May 1996 09:08:50 +0000

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           HUM-MOLGEN  DIAGnostics/Clinical Research
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This DIAG message contains 7 submessage(s):

1)   Familial Histiocytic Reticulosis

2)   liver cancers/microsatellite instability

3)   vascular (venous) anomalies collaboration

4)   WERDNIG HOFFMAN / PT REQ.

5)   blepharophimosis

6)   Polycythemia vera/ PT REQ.

7)   Prenatal Diagnosis of Epidermolysis Bullosa Simplex


  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics network
  Diagnostics/Clinical Research Section


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

We care for a woman whose three children succumbed to Familial
Hemophagocytic Lymphoreticulosis (FEL, MIM # 26770) and is pregnant
again. Is there a possibility for prenatal diagnosis? Was the gene mapped?
Thanks

Moshe Frydman M.D.
Genetics institute
Sheba Medical Center
Tel Hashomer
Israel
E-mail mfrydman@mail.tau.ac.il

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

We are trying to obtain primary hepatocellular carcinomas (or DNAs/RNAs
extracted from them) for studies of microsatellite instability and mutation.
Does anyone have these for a possible collaboration?  Thank you very much.

Steve Meltzer
University of Maryland
Medicine/GI, Room N3W62
22 S. Greene Street
Baltimore, MD 21201
410-706-3375
FAX 410-328-6559
email: smeltzer@umabnet.ab.umd.edu


**************************************************************
Dear Colleagues,

    We are studying inherited forms of vascular anomalies and are looking for
additional families for linkage studies on a collaborative basis. We have
previously published one locus - identified by random genome mapping - for
venous malformation (also called cavernous hemangioma) on Chromosome 9p (Boon et
al, Hum Molec Genet 3, 1994; 1583-1587). As a collaboration we have also
confirmed the linkage using another large family (Gallione et al, J Med Genet
32(3), 1995).

    We are currently characterizing a candidate gene in the 9p locus and with
several additional families that we have been able to collect, we have
identified another locus causing inherited mucocutaneous venous malformations.
To narrow down the linked intervals and to clone the defective genes it would
help us to have additional families. At this stage we are interested even in
small families (with minimum  two affected individuals). Therefore we are asking
for everybodies help to identify and locate more families with similar phenotype
all around the world.

    Looking forward to reading from you all.

    Sincerely yours,


    Miikka Vikkula, M.D., Ph.D.
    Research Associate

    Harvard Medical School          phone#:     (617) 432-2088
    Department of Cell Biology      fax#:       (617) 432-0638
    240 Longwood Avenue             e-mail:     mvikkula@warren.med.harvard.edu
    BOSTON, MA 02115
    USA


**************************************************************
           We had a baby who had WERDNIG HOFFMAN and died 5 months old -have
the baby's DNA. For a second baby we're trying to gather info on post-natal
diognosis-recommended centers for CVS and following labratory tests.

mehmet17
ma17-k@SERVIS2.NET.TR
(apparent family location: Turkey)
**************************************************************

I am currenlty recruiting patients (simplex) and families with
blepharophimosis syndrome...type 1 or 2 in order to close the genetic
interval since my initial mapping of this.

Thanks

Kent W. Small, M.D.
Jules Stein Eye Institute
UCLA
Los Angeles, CA, USA
SMALL@JSEI.UCLA.EDU

*** ATTENTION, NO STUDY APPROVAL INFORMATION PROVIDED TO HMGN ***

**************************************************************
        Recently my mother(age 48) was diagnosed with polycythemia vera.
Does anyone have information to aid our family in understanding possible
CAUSES, remedies, treatments,etc. I am an undergraduate senior at UCSB
majoring in microbiology. Any response would be much appreciated and useful.
Thanks very much.
Sincerely,

*** PLEASE REPLY TO HUMAN MOLECULAR GENETICS DIRECTLY ***

**************************************************************
Dear Sir/Madamm
Can someone recommend me a DNA laboratory for prenatal diagnosis of
epidermolysis bullosa simplex?
Sincerely,
Apiwat Mutirangura, M.D.,Ph.D.
Genetics Unit, Department of Anatomy
Faculty of Medicine
Chulalongkorn University
Bangkok 10330, THAILAND
Fax 66-2-252-4963
mapiwat@NETSERV.CHULA.AC.TH
**************************************************************



   
 
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