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  Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 13 messages  

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Subject: DIAG: 13 messages
From: "Carlo Gambacorti MD, National Cancer Institute, Milan - Italy" <gambacorti@istitutotumori.mi.it>
Date: Fri, 9 Apr 1999 15:59:05 +0200
Posted-Date: Fri, 09 Apr 1999 15:59:05 +0200

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  13 professional requests:

1)      Request for tissue from Fragile X patients:
2)      6p- and Dandy Walker Syndrome
3)       Protein C deficiency
4)      5q- Syndrome
5)       Sertoli-cell-only syndrome
6)      14q12 to 14q21
7)       H-Ras mutations in bladder cancer
8)      Klippel-Feil Syndrome
9)      Unidentified syndrome
10)     Retinitis pigmentosa with juvenile Parkinsonism
11)     CADASIL
12)     Familial myeloid leukemia
13)     Jarcho-Levin syndrome


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

1)      Request for tissue from Fragile X patients:

Our research interest is the functional characterization of FMRP,
the gene product of the Fragile X disease gene.
For our investigations, we are looking for scientists
who have access to tissue samples from Fragile X patients.
We are not restricted in gender or age of the patient,
small amounts are sufficient.
Please contact us, if you have material available or
if know scientists who do.
Your support will be credited.

Dr. Bernhard Laggerbauer
AG Dr. Utz Fischer
Max-Planck-Institute for Biochemistry
Am Klopferspitz 18
82152 Martinsried



2)      6p- and Dandy Walker Syndrome

I'm a Physical Therapist beginning work with a 2 1/2 month old boy with 6p-
and mild Dandy Walker Syndrome, as well as coloboma effecting the eyes.  I'm
trying to find out more about these conditions and would appreciate any
information.  Thanks.


3)       Protein C deficiency

I am the Director of Health Resource Center for Palestine.  We currently
have one patient, among hundreds of destitute Thalasemia and Hemophilia
Patients inside Palestine applying for sponsorship to meet their medical
needs, diagnosed with Protein C deficiency.  HRCP has been requested to
assist in procuring any information which may allow us to improve his
patient care, including detailed information, latest treatment options
and whether or not there are any current trials which this patient may
be eligible for.  I would like to note that we have yet to find a
sponsor for this destitute patient.  I would appreciate any and all
information that anyone can provide on this subject in as timely a
manner as possible.

Lamyaa M Hashim, Chief Executive Director
Health Resource Center for Palestine

Health Resource Center for Palestine, Inc. is a tax-exempt US-registered
and certified  Not-for-Profit Organization dedicated to to the
improvement of Health Care in Palestine and among Palestinian refugees
in Lebanon  via charitable means.

Health Resource Center for Palestine, Inc
1313 S. Military Trail     Suite 283
Deerfield Beach,   FL  33442
tel: 1-561-445-1777 arabic/english
tel: 1-561-445-4774 english/urdu


4)      5q- Syndrome

Dear colleagues,

we are involved in the investigation of the role of the long arm of
chromosome 5 in the pathogenesis of myeloproliferative disease and are
therefore very interested in obtaining DNA and or cell lines both from
sporadic and familial cases with 5q- as well as from cases of secondary 5q-
after cytostatic chemotherapy and are therefore looking for a collaboration
on this subject.

Best regards,

Ulrich Mahlknecht, MD PhD
J.W. Goethe-Universit$E4t Frankfurt am Main
Medizinische Klinik III
Abteilung fur Hematologie/Onkologie
Theodor-Stern-Kai 7
60590 Frankfurt am Main
Tel.: 069-6301-5235 bzw. 069-6301-5195
Fax: 069-6301-6131
E-Mail: umahlknecht@picower.edu


5)       Sertoli-cell-only syndrome

I am  trying to help a young man who was investigated for infertility and
found to have sertoli-cell-only syndrome.  He has had a semen analysis which
shows no spermatozoa.  Bilateral testicular biopsy shows no germ cells
present.  He has an older brother who is well, and who is not yet married
and has no children.  He also has two sisters who each have healthy children.

My patient is very anxious to know the etiology of his infertility.  He also
wants a cure.  He wonders if we cannot simply fix his DNA.

I am in the process of arranging a karyotype and FISH analysis of the Y
chromosome.  I am also banking DNA.  Is there anyone who is interested in
studying this man's sample?  Is there anything I can offer him?  Has anyone
had experience of any level of fertility given this scenario?
Thank you for your help.

Lea Velsher MD, FRCPF
Lakeridge Health Oshawa
Oshawa, ON, L1G 2B9, Canada
Fax 905 721-4757
Ph. 905 576-8711, ext. 4114
e-mail: lvelsher@idirect.com


6)      14q12 to 14q21

I am working in the lab of Dr. Diane Wilson Cox.  Our
lab has a long established interest and research productivity relating
to human chromosome 14.  This includes the organization and structure
of disease related genes on chromosome 14.  We are currently in need of
obtaining cell lines or DNA samples from patients who have chromosomal
rearrangements involving 14q12 to 14q21.  We welcome any potential
collaborative research.  Can you contact me as soon as possible.

Deepak Kamnasaran

Department of Medical Genetics
University of Alberta
E-mail: dkamnasa@ualberta.ca


7)       H-Ras mutations in bladder cancer

I would appreciate any help in obtaining samples (tissue, genomic dna, etc)
from bladder cancer patients who exhibit h-ras mutations in either exon 1
or 2. Our lab is developing a novel assay to detect mutations in H-ras from
bladder cancer patients. Through IRB at Mayo we will be running a number of
in-house samples to this end. However, it is questionable whether any of
these samples will be known positives for H-ras beforehand, and it would be
a great help in the development process of having such samples to serve as
positive controls. Of course, we'll most likely have to accumulate these
controls by analyzing our material using conventional methods of detection.
I thought is would shorten the process if I could acquire some genomic dna
which was already known to be positive for H-ras mutations.

William Taylor
Mayo Foundation


8)      Klippel-Feil Syndrome

We have a number of KFS families . Please contact
me if you have an interest in the genetics of Klippel-Feil.
Contact: r.clarke@unsw.edu.au

Dr Raymond Clarke
St George Hospital


9)      Unidentified syndrome

I have a patient with the following clinical characteristic: Male, 22 years
old, was born with arm agenesia, micronagtia, epicantos eyes, ears and
external auditive ducts misshapen and sensorio neuraI would like some
information about this disorder. I
Thank you very much for your attention.
Yours Regards
Adela Sembaj, PhD
Catedra de Quimica biologica. Facultad de Ciencias Medicas
UNC Cordoba. Argentina


10)     Retinitis pigmentosa with juvenile Parkinsonism

I am a neurologist at the Regional Hospital
Bolzano in South Tirol.

Is anyone  interested in four living siblings with retinitis pigmentosa
with one sister
suffering from juvenile parkinsonism (age of onset was 25). She presents an
interesting clinical picture with for example green-seeing in her on-phase
and tends to "watch through blue glasses" in her off-phase. We are looking
forward expecting your answer,

Bernhard Kis
Regional Hospital Bolzano
Department of Neurology
Lorenz-B$F6hler-Str. 5
I-39100 Bolzano
Tel.: +39-0471-908589
Fax.: +39-0471-908591


11)     CADASIL

After having read an article "Informative crossover refines mapping of the
CADASIL disease locus" by The Department of Neurology,
Ludwig-Maximilians-University, Munich, Germany (sept. 1995) I would be
pleased to know  the most up-to-date diagnostic procedures concerning
CADASIL and where an eventual  neurogenetic determination could be made.

Gunvor Gasser
gasser@post10.tele.dk (Gunvor Gasser, doctor)


12)     Familial Myeloid Leukemia

I recently saw a 31 year old patient with Chronic Myeloid Leukemia (CML),
whose mother recently developed  Acute Myeloid Leukemia (AML, M4 with
INV16), at 59 years
of age. A sister of the CML patient is apparently healthy. DNA is
available from the 2 patients as well as the sister.

        I would like to contact research groups interested in studying this
cluster of familial myeloid leukemia, or with similar experiences.

Carlo Gambacorti-Passerini MD
Senior Investigator
Director, Oncogenic Fusion Proteins Unit
Istituto Nazionale Tumori
Via Venezian 1
20133 Milano - Italy

Tel +39.02.239-0818
Fax +39.02.239-0764


13)     Jarcho-Levin syndrome

I am writing on this occasion in hopes of contacting someone who  has
experience in molecular analysis of Jarcho-Levin syndrome.
I look forward to receiving some news

Thank you

Dr Alessandro Malandrini
Institute of Neurological Sciences
University of Siena

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