Carl E G Bruder

Summary

Affiliation: University of Alabama at Birmingham
Country: USA

Publications

  1. ncbi request reprint High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH
    Kiran K Mantripragada
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden
    Int J Oncol 22:615-22. 2003
  2. ncbi request reprint 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
  3. pmc Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
    Carl E G Bruder
    Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294 0024, USA
    Am J Hum Genet 82:763-71. 2008
  4. doi request reprint Somatic mosaicism for copy number variation in differentiated human tissues
    Arkadiusz Piotrowski
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294 0024, USA
    Hum Mutat 29:1118-24. 2008
  5. doi request reprint Distal 22q11.2 microduplication encompassing the BCR gene
    Maria Descartes
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 146:3075-81. 2008
  6. ncbi request reprint A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
    Fady M Mikhail
    Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA
    Am J Med Genet A 143:2178-84. 2007
  7. doi request reprint Autoantibodies to glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases
    Brita 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
  8. doi request reprint A segmental maximum a posteriori approach to genome-wide copy number profiling
    Robin Andersson
    The Linnaeus Centre for Bioinformatics, Uppsala University, 751 24 Uppsala, Sweden
    Bioinformatics 24:751-8. 2008
  9. ncbi request reprint Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array
    Teresita Díaz de Ståhl
    Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden
    Hum Mutat 29:398-408. 2008
  10. ncbi request reprint A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients
    Robert P Erickson
    Department of Pediatrics, University of Arizona, Tucson, Arizona, USA
    Am J Med Genet A 143:3302-8. 2007

Collaborators

  • Fady M Mikhail
  • Maria Descartes
  • Johan T den Dunnen
  • David B Allison
  • Nancy L Pedersen
  • Karin Wirdefeldt
  • Stephen Erickson
  • Jan P Dumanski
  • Dorret Boomsma
  • DANIEL D PINKEL
  • R P Erickson
  • Cecilia De Bustos
  • M Upadhyaya
  • Nathaniel H Robin
  • Teresita Díaz de Ståhl
  • Robin Andersson
  • Arkadiusz Piotrowski
  • Uwe Menzel
  • Johanna Sandgren
  • Jan Komorowski
  • Kiran K Mantripragada
  • Patrick G Buckley
  • Andrzej Poplawski
  • Desiree von Tell
  • Brita Ardesjö
  • Caisa M Hansson
  • Adam Bogdan
  • Helena Nord
  • Koichi Ichimura
  • Magdalena Benetkiewicz
  • Carina Hirvelä
  • Caroline Jarbo
  • V Peter Collins
  • Zbigniew Jankowski
  • Zsuzsa Bebok
  • Olle Kämpe
  • Maciej Krzyzanowski
  • Ann Charlotte Thuresson
  • Amir I Elshafie
  • Stephan Imreh
  • Olov Ekwall
  • Fredrik Rorsman
  • Torgeir R Hvidsten
  • Rafal Bartoszewski
  • E Christopher Partridge
  • Magnus Nordenskjold
  • Gehad Elghazali
  • Chiquito Crasto
  • Corrado Betterle
  • Laura Papi
  • Gunnar Nyberg
  • Tiit Mathiesen
  • Helena Wensman
  • Gareth Evans
  • Haider Ali
  • Nils Mandahl
  • Magnus Rosenquist
  • Boris C Bastian
  • Ingegerd Fransson
  • Isabel Tapia-Paez
  • Ian Dunham
  • Martin Hergersberg
  • David M Beare
  • Roger S Lasken
  • A Fawad Faruqi
  • Donna Albertson
  • Charlotte Thyr
  • Elisabeth Blennow
  • John E Collins
  • Anna Wedell
  • Britt Inger Johnsson
  • Birgitta Sinder Wilén

Detail Information

Publications11

  1. ncbi request reprint High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH
    Kiran 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...
  2. ncbi request reprint 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...
  3. pmc Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
    Carl 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...
  4. doi request reprint Somatic mosaicism for copy number variation in differentiated human tissues
    Arkadiusz 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...
  5. doi request reprint Distal 22q11.2 microduplication encompassing the BCR gene
    Maria 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...
  6. ncbi request reprint A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene
    Fady 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...
  7. doi request reprint Autoantibodies to glutathione S-transferase theta 1 in patients with primary sclerosing cholangitis and other autoimmune diseases
    Brita 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...
  8. doi request reprint A segmental maximum a posteriori approach to genome-wide copy number profiling
    Robin Andersson
    The Linnaeus Centre for Bioinformatics, Uppsala University, 751 24 Uppsala, Sweden
    Bioinformatics 24:751-8. 2008
    ..Current discrete-index HMM-based approaches do not, however, take into account heterogeneous information regarding the genomic overlap between clones. Moreover, the majority of existing methods are restricted to chromosome-wise analysis...
  9. ncbi request reprint Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array
    Teresita 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...
  10. ncbi request reprint A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients
    Robert 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...
  11. ncbi request reprint A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications
    Patrick 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...