Research Topics
| Carl E G BruderSummaryAffiliation: University of Alabama at Birmingham Country: USA Publications
| Collaborators
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Detail Information
Publications
High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGHKiran K Mantripragada
Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden
Int J Oncol 22:615-22. 2003..Our array also provides a new diagnostic tool for analysis of NF2 gene deletions in patients affected with neurofibromatosis-2...- Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)Fady M Mikhail
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama
Am J Med Genet A 143:1760-6. 2007..As expected, our patient manifests findings of both WHS (a growth retardation syndrome) and BWS (an overgrowth syndrome). We compare her unique phenotypic features with those that have been reported for both syndromes... 
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profilesCarl E G Bruder
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 0024, USA
Am J Hum Genet 82:763-71. 2008..Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics...
Distal 22q11.2 microduplication encompassing the BCR geneMaria Descartes
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
Am J Med Genet A 146:3075-81. 2008..2 can mediate both deletions and duplications in this genomic region. Both deletions and duplication of this region present with subtle clinical features including mild to moderate mental retardation, DD, and mild dysmorphic features...- Somatic mosaicism for copy number variation in differentiated human tissuesArkadiusz Piotrowski
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294 0024, USA
Hum Mutat 29:1118-24. 2008..Thus, our conclusions will be important for the delineation of genetic factors behind these phenotypes. Consequently, biobanks should consider sampling multiple tissues to better address mosaicism in the studies of somatic disorders... - A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR geneFady M Mikhail
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
Am J Med Genet A 143:2178-84. 2007..92 Mb in size and to span approximately 20 genes. This microdeletion region is flanked by LCR clusters containing several modules with a very high degree of sequence homology (>95%), and therefore could play a causal role in its origin... - Autoantibodies to glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseasesBrita Ardesjö
Department of Medical Sciences University Hospital, Research Department 2, Lab 21, Entrance 70, 3rd Floor, Uppsala University, SE 75185 Uppsala, Sweden
J Autoimmun 30:273-82. 2008..This increased frequency can be explained by an autoimmune phenotype which increases susceptibility to such autoantibodies, or by a high frequency of the GSTT1-null genotype in autoimmune disease... - A segmental maximum a posteriori approach to genome-wide copy number profilingRobin Andersson
The Linnaeus Centre for Bioinformatics, Uppsala University, 751 24 Uppsala, Sweden
Bioinformatics 24:751-8. 2008..We highlight the differences between the prediction of SMAP and the compared methods and show that SMAP accurately determines copy number changes and benefits from overlap consideration... - Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based arrayTeresita Díaz de Ståhl
Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
Hum Mutat 29:398-408. 2008..This report contributes to the establishment of the common baseline for CNV, which is an important resource in human genetics... - A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patientsRobert P Erickson
Department of Pediatrics, University of Arizona, Tucson, Arizona, USA
Am J Med Genet A 143:3302-8. 2007..2 deletion. He shares the same deletion as patients with velocardiofacial and DiGeorge syndrome... - A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applicationsPatrick G Buckley
Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden
Hum Mol Genet 11:3221-9. 2002..Furthermore, comprehensive epigenetic profiling of 22q-located genes and high-resolution analysis of replication timing across the entire chromosome can be studied using our array...