posted 05-12-2004 10:02 AM            

VATER association represents non-random co-occurrence of developmental defects including Vertebral defects, Anal atresia, Tracheo-Eosophageal fistula and Esophageal atresia and Radial limb reduction and Renal defects. Some patients also have defects in cardiac and limb development (VACTERL association).

We have isolated a candidate gene for VATER association by physical mapping of chromosomal breakpoints in a patient with a pericentric inversion of chromosome 3.

We have started screening our VATER/VACTERL patient cohort for mutations in this gene. We would like to collaborate with laboratories or clinical professionals in extending our patient cohort. We are open for any type of collaboration.

Contact person:

Zeynep Tümer, MD, PhD
Vice director,
Wilhelm Johannsen Centre for Functional Genome Research
and
Associate Professor in the Department of Medical Biochemistry and Genetics
Faculty of Health Sciences (The Panum Institute)
University of Copenhagen
Blegdamsvej 3, 2200 KBH N
Copenhagen, Denmark

Phone: (+45) 3532 7827
Fax: (+45) 3532 7845
E-mail: zeynep@imbg.ku.dk

posted 03-21-2006 03:42 PM            

quote:

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Originally posted by lalarsen:
Call for patients.

VATER association represents non-random co-occurrence of developmental defects including Vertebral defects, Anal atresia, Tracheo-Eosophageal fistula and Esophageal atresia and Radial limb reduction and Renal defects. Some patients also have defects in cardiac and limb development (VACTERL association).

We have isolated a candidate gene for VATER association by physical mapping of chromosomal breakpoints in a patient with a pericentric inversion of chromosome 3.

We have started screening our VATER/VACTERL patient cohort for mutations in this gene. We would like to collaborate with laboratories or clinical professionals in extending our patient cohort. We are open for any type of collaboration.

Contact person:

Zeynep Tümer, MD, PhD
Vice director,
Wilhelm Johannsen Centre for Functional Genome Research
and
Associate Professor in the Department of Medical Biochemistry and Genetics
Faculty of Health Sciences (The Panum Institute)
University of Copenhagen
Blegdamsvej 3, 2200 KBH N
Copenhagen, Denmark

Phone: (+45) 3532 7827
Fax: (+45) 3532 7845
E-mail: zeynep@imbg.ku.dk

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Hi,
I have one patient
please tell me arrangments.

Saeed Al-Tala MD.
seeed99@yahoo.com
seeed99@ afhsr.med.sa