Spinal Muscular Atrophy

Dan Jacobson danj at welchgate.welch.jhu.edu
Fri Feb 19 10:14:23 EST 1993


In article <1993Feb19.120300.13500 at reks.uia.ac.be> dnalab at reks.uia.ac.be (labo DNA-onderzoek) writes:
>Hello,
>
>Is there anyone who is currently working on Spinal Muscular Atrophy type I
>(Werdnig-Hoffmann) and is using RFLP's for prenatal diagnosis.
>I am currently working on SMA-I at the Department of Human Genetics of the 
>University of Antwerp, Wilrijk (Antwerpen), Belgium. We have four families
>and already used two probes but they weren't informative in these families.
>If you are working on SMA could you give us some information on the probes 
>you are using and could we use them als to see wether tey are informative
>We do not intend to give the probes to others if you don't want to.
>The probes we already used are : p105-599 HA and p105-153 RA.
>Thank you in advance for your assistance.
>
>

If you have a gopher client point it at merlot.welch.jhu.edu and go 
to the following directory:

 -->  14. Searching For Biologists/

then select -

   -->  2.  Search for All Researchers funded by NIH <?>

and search for:

spinal and muscular and atrophy

and you will get a list of researches funded by the US Nat'l
Institutes of Health to work on Spinal Muscular Atrophy. Each
entry contains the researher's name, address and an abstract 
describing there work.

      1.         GILLIAM, THOMAS  COLUMBIA UNIVERSITY  722 W 168TH ST, BOX 5...
      2.         FISCHBECK, KENNETH H  HOSP OF UNIV OF PENNSYLVANIA  3400 SP...
      3.         BRONSTEIN, JEFF  UCLA SCHOOL OF MEDICINE  10833 LECONTE AVE...
      4.         NEMETH, PATTI M  WASHINGTON UNIVERSITY  660 S. EUCLID AVE.,...
      5.         HIXON, THOMAS J  UNIVERSITY OF ARIZONA  SPEECH BUILDING NO ...
      6.         HIXON, THOMAS J  UNIVERSITY OF ARIZONA  SPEECH BUILDING NO ...
      7.         HOUENOU, LUCIEN J  BOWMAN GRAY SCHOOL  MEDICAL CENTER BLVD ...
      8.         OPPENHEIM, RONALD W  WAKE FOREST UNIVERSITY  MEDICAL CENTER...
      9.         WANG, CHING H  COLUMBIA UNIVERSITY  710 WEST 168TH ST  BOX ...
      10.        ABLACK, IRA B  UMDNJ-ROBERT W JOHNSON MED SCH  675 HOES LAN...
 -->  11.        CORNBLATH, DAVID R  JOHNS HOPKINS UNIVERSITY  720 RUTLAND A...
      12.        PRICE, DONALD L  JOHNS HOPKINS UNIVERSITY  600 NORTH WOLFE ...


Now if you further restrict the search to:

spinal and muscular and atrophy and rflp

you will find one researcher:

 -->  1.         CORNBLATH, DAVID R  JOHNS HOPKINS UNIVERSITY  720 RUTLAND A...

The entry is as follows:


CORNBLATH, DAVID R
JOHNS HOPKINS UNIVERSITY
720 RUTLAND AVE
BALTIMORE, MD  21205
PERFORMING ORGANIZATION: JOHNS HOPKINS UNIVERSITY
TITLE   General clinical research center
  SUB TITLE Familial autosomal dominant distal spinal muscular atrophy

ABSTRACT:

 This study attempts to identify the locus for autosomal distal SMA in a
 family in which this disorder is sufficiently defined clinically, and
 the pedigree extensive enough, that restriction fragment length
 polymorphism (RFLP) linkage analysis is a feasible approach toward
 identifying the underlying genetic defect.

 
I looked up CORNBLATH'S phone mumber -

(410) 955-2229 


Gopher is free and on the net - write me a note if you've never
heard of it and want more information on how to obtain it.


Sincerely,

Dan Jacobson

damj at welchgate.welch.jhu.edu



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