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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 6 messages  

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Subject: DIAG: 6 messages
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@istitutotumori.mi.it>
Date: Wed, 9 Feb 2000 12:28:46 +0100

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 6 professional requests:

1)      Tay-Sachs
2)      Pseudo-Treacher Collins syndrome
3)      Autosomal Dominant Coloboma/Microphthalmia
4)      Autosomal-Dominant Idiopathic Fanconi's anemia.
5)      Riley-Day Syndrome
6)      Vitiligo


Carlo Gambacorti, MD, Editor,            Harker Rhodes, MD, Assistant Editor
                       Human Molecular Genetics Network
                       Diagnostics/Clinical Research Section
1)      Tay-Sachs

We are investigating the extent of linkage-disequilibrium around the TS
locus in the Ashkenazi Jewish population and need DNA from affected
individuals homozygous for the 1278+TATC mutation.  Anyone willing to
provide anonymous DNA or cells from such cases please contact me at:

 Robert D. Burk, M.D.
Ullmann Rm. 515
Albert Einstein College of Medicine
1300 Morris Park Ave.
Bronx, NY 10461
Direct Tel: 718 430-3720
FAX: 718 430-8975
Lab 718 430-3744


2)      Pseudo-Treacher Collins syndrome

We have recently seen a family in which the combination of apparent
branchial arch anomalies and minor digital defects is inherited as an
autosomal dominant trait.  They had been diagnosed as having Treacher
Collins syndrome, but that clearly is not the correct diagnosis.  They are
very motivated to have someone try to identify the gene.  There are at least
6 affected individuals in three generations.
Please contact:
Helga Toriello, Ph.D.
Genetics Services
21 Michigan St.
Suite 465
Grand Rapids, MI  49503

phone: 616-391-2701
fax: 616-391-3114
Email: helga.toriello@spectrum-health.org

3)      Autosomal Dominant Coloboma/Microphthalmia

We are about to start linkage analysis on a large family with
coloboma and microphthalmia segregating as an autosomal dominant
disease.   We would be very interested in including other
well-characterised families in the panel.  Please contact

David FitzPatrick MD/Veronica van Heyningen PhD
Molecular Medicine Centre/MRC Human Genetics Unit
Western General Hospital
Edinburgh EH4 2XU
Tel(Fax) 0131 651 1012(3)

email: david.fitzpatrick@ed.ac.uk


4)      Autosomal-Dominant Idiopathic Fanconi's anemia.

I would like to know if there are researchers interested in studying this
family of 4 generations 10 affected for molecular gene determination.

Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.
Tolaymat A, Sakarcan A, Neiberger R
University of Florida Health Science Center, Pediatrics Department,
Jacksonville 32209.
J Am Soc Nephrol 1992 Feb;2(8):1310-7 PMID: 1627757, UI: 92329697

They have not had complementation studies.
Please, see the article for details.
Thank you.

Tony Perszyk

Anthony Perszyk MD
Division of Medical Genetics
Nemours Children's Clinic
807 Nira Street
Jacksonville, Florida 32207-8426

TEL#  1-904-390-3726
FAX#  1-904-390-3422

5)      Riley-Day Syndrome 

We have a family with four year old ex-child due to Riley-Day Syndrome.
There is no DNA of this child. Now, the mother has her second pregnancy of
12 weeks gestation. The family wants have a prenatal diagnosis for this
pregnancy. In our department, prenatal diognosis for such rare diseases is
not carried out. If we can find any center which performs prenatal diagnosis
 of Riley-Day Syndrome, we can send either amniotic fluid cells or culture
or isolated DNA sample. Please contact us urgently from the below address.
Akdeniz University
Faculty of Medicine
Dept. of Medical Biology and Genetics
e-mail: esra@hipokrat.med.akdeniz.edu.tr

6)      Vitiligo 

We are about to start immunomodulation on vitiligo patients and   we would
be very interested in obtain information about tyrosinase and
tyrosinase-related proteins I and II and genetic studies on vitiligo
patients relatives.  Please contact

Luis Fernando de Mello Campos MD
Departamento de Pesquisa
Centro de Medicina Molecular do Rio de Janeiro
Rua Visconde de PirajŠ 351 sala 1004.  Ipanema.  Rio de Janeiro.  CEP
22410-003 Telephone-FAX 55(21)521-7578
e-mail lfmcampos@openlink.com.br


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