Guest guest Posted February 28, 2002 Report Share Posted February 28, 2002 Hi Cheri: We would very much like to have your participation in tis important and perhaps only research on BPES. At the moment we are screening the gene involved in most (60-70%) affected individuals for causative mutations. This is done for research purposes only at the moment which may lead to future treatments. We would be able to release the results to your genetics counselor. PLease call the number below and ask for maria, the clinical coordinator who can make all of the arrangements for you. Thanks Kent W. Small, M.D. Professor of Ophthalmology UCLA 200 Stein Plaza Los Angeles, CA 90095 Director of the Macular Disease Center Director of the Retina Research Lab 310-206-7475 fax 310-794-2029 small@... > ---------- > From: cavahl2000 > Reply blepharophimosis > Sent: Thursday, February 28, 2002 2:29 PM > blepharophimosis > Subject: blepharophimosis Re: BPES group > > Sir, we would be interested in your work. Specifically, do you test > siblings to see if they carry the trait? Is egg donation possible > from sister to sister? What about gene splicing as they have done > with the Alzheimer's gene? Shall we call the numbers listed below to > participate in your research? Also, whom do you know or recommend > that does surgical correction of this syndrome? > Thanks Cheri > > > > Hi: > > My lab is performing genetic research on BPES. We would be happy > to have > > additional volunteers. Your participation would require a blood > sample and > > copies of your medical records. If you are interested, please let > me know > > and I can provide more details. > > thanks > > > > > > Kent W. Small, M.D. > > Professor of Ophthalmology > > UCLA > > 200 Stein Plaza > > Los Angeles, CA 90095 > > > > Director of the Macular Disease Center > > Director of the Retina Research Lab > > 310-206-7475 > > fax 310-794-2029 > > small@j... > > > > > > > ---------- > > > From: luis ortega > > > Reply blepharophimosis@y... > > > Sent: Wednesday, February 20, 2002 10:55 PM > > > blepharophimosis@y... > > > Subject: Re: blepharophimosis BPES group > > > > > > > > > To Cheri, > > > I Know there is a discussion group for people interested in BPES, > my > > > daughter has got it, but your e.mail is the first I recieve. If > you know > > > more about BPES than the information that can be found in the web > > > (including > > > medical bibliography in medline), please answer me. > > > > > > O. > > > > > > >From: " Vahl, Cheryl " <cheryl-vahl@u...> > > > >Reply-blepharophimosis@y... > > > > " 'blepharophimosis@e...' " <blepharophimosis@y...> > > > >Subject: blepharophimosis BPES group > > > >Date: Wed, 20 Feb 2002 14:01:22 -0600 > > > > > > > >To whom it may concern, > > > > I heard there was a discussion group for people with BPES > > > >(Blepharophimosis, ptosis, epicanthus inversus syndrome) at this > address? > > > >Is anyone there? > > > >thanks, tell me how to access the discussion. Cheri > > > > > > > > > > > > > > > > > _________________________________________________________________ > > > MSN Photos es la manera más sencilla de compartir e imprimir > sus > fotos: > > > http://photos.latam.msn.com/Support/WorldWide.aspx > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
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