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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 5 messages  

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Subject: DIAG: 5 messages
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@istitutotumori.mi.it>
Date: Wed, 1 Sep 1999 07:59:26 +0200
Posted-Date: Wed, 01 Sep 1999 07:59:26 +0200

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains 5  professional requests:

1)      Osteodysplastic primordial dwarfism
2)      Spondyloepiphyseal dysplasia tarda
3)      Fraser and Jeune syndromes
4)      Rothmund-Thomson Syndrome
5)      Elejalde syndrome


Carlo Gambacorti, MD, Editor,            Harker Rhodes, MD, Assistant Editor
                       Human Molecular Genetics Network
                       Diagnostics/Clinical Research Section

1)      Osteodysplastic primordial dwarfism

We have 4 children from three different non-consanguineous families with
osteodysplastic primordial dwarfism. We were interested in finding
interested scientists who are working on finding the gene or genes for
these disorders. Some of the families may be interested in participating in
a research study.

          Please contact me at the following address:
            Jennifer Ivanovich, MS
            Genetic Counselor
            Washington University School of Medicine
            660 S. Euclid Ave.
            St. Louis,  Missouri  63110

            telephone: 314-454-6093
            fax:       314-454-2075

            email: ivanovich@a1.kids.wustl.edu

          Thank you,
          Jennifer Ivanovich

2)      Spondyloepiphyseal dysplasia tarda

We have recently identified the SEDL gene causing spondyloepiphyseal
dysplasia tarda (Late-onset) - MIM 313400, Gedeon et al Nature Genetics Aug
'99.  We would like to welcome new clinical/laboratory
collaborators for the purpose of identifying the mutations in additional
families . We are also looking for additional families with bilateral
osteoarthritis conforming to an X-linked mode of inheritance.
We would be pleased to discuss alternative possibilities in the molecular
genetic analysis of autosomal SEDL families that have been shown not to have
collagen mutations.

If you have seen/ know of any such families, please do not hesitate to
contact us. Written informed consent is needed for each participant.

Looking forward to fruitful collaborations.

Yours Sincerely,
Agi Gedeon Ph.D.

Dr. Agi K. Gedeon,
Senior Hospital Scientist,
Department of Cytogenetics and Molecular Genetics,
Women's and Children's Hospital,
North Adelaide, SA 5006.

email: agedeon@mad.adelaide.edu.au
phone: int + 8 8204 7023
fax: int + 8 8204 7342

3)      Fraser Syndrome (OMIM 219000) and Jeune syndrome (OMIM

We are searching for additional patients/families suitable for the
homzygosity mapping of Fraser (cryptopthalmos/syndactyly) Syndrome -
(OMIM 219000) and Jeune (asphyxiating thoracic dystropy) syndrome (OMIM

If it is possible you would be able to obtain blood/DNA for such a study
please contact Dr. Lesley McGregor (l.mcgregor@ich.ucl.ac.uk) or Prof
Peter Scambler (postal address below).

Many thanks

Prof. Peter Scambler,
Room 211,
Molecular Medicine Unit,
Institute of Child Health,
30 Guilford St.,
Tel 44 207 905 2635 (or 242 9789 x2635)
Fax 44 207 831 0488 (or 404 6191)
alternative email p.scambler@ich.ucl.ac.uk
http://www.ich.ucl.ac.uk/  (see Academic Units - Molecular Medicine)


4)      Rothmund-Thomson Syndrome

Dear Colleagues,
We are conducting research on the biology and genetic basis of
Rothmund-Thomson Syndrome (RTS) which is a rare medical disorder
characterized by poikiloderma, small stature, skeletal dysplasias, juvenile
cataracts, and increased risk of certain types of cancers.  Mutations in the
RTS gene have recently been identified, and we are performing mutational
analysis on a research basis on patients with RTS.  We are also interested
in better defining the clinical phenotype and appropriate medical management
of these patients, and are pursuing genotype-phenotype correlation studies
and determining whether genetic heterogeneity exists for this disorder.  We
are identifying patients and families with Rothmund-Thomson syndrome
anywhere in the U. S. or internationally.

Please contact Dr.Sharon Plon or Dr. Lisa Wang at Baylor College of
Medicine, Houston, TX.

E-mail: splon@bcm.tmc.edu or llwang@bcm.tmc.edu
Phone (1-800-CANCER-9 or 713-770-3334)
Fax (713-770-4202).
Please visit our website at http://www.tccc.tch.tmc.edu/disease/rts/

5)      Elejalde syndrome

We have a child with Elejalde syndrome (Melanolysosomal neurocutaneous
syndrome). He is 9 years old. The family is interested in submitting a
sample for research to an interested scientist who is actively looking for
the gene.

   Please contact
    Jennifer Ivanovich, MS
    Genetic Counselor
    Medical Genetics
    Washington University School of Medicine
    One Children's Place
    St. Louis, MO 63110

    fax 314-454-2075

    email: ivanovich@a1.kids.wustl.edu

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