Christiane Zweier

Summary

Affiliation: University of Erlangen-Nuremberg
Country: Germany

Publications

  1. pmc Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
    Christiane Zweier
    Institute of Human Genetics, Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Hum Genet 80:994-1001. 2007
  2. doi request reprint A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome
    Christiane Zweier
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Eur J Med Genet 51:358-61. 2008
  3. ncbi request reprint Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:869-72. 2006
  4. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
  5. doi request reprint Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
    Markus Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Hum Mutat 31:722-33. 2010
  6. pmc Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
    Juliane Hoyer
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    J Med Genet 44:629-36. 2007
  7. ncbi request reprint A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype
    Wolfram Heinritz
    Institute of Human Genetics, University of Leipzig Medical Faculty, Leipzig, Germany
    Am J Med Genet A 140:1223-7. 2006
  8. pmc De novo mutations in the genome organizer CTCF cause intellectual disability
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander Universitat Erlangen Nurnberg, 91054 Erlangen, Germany
    Am J Hum Genet 93:124-31. 2013
  9. ncbi request reprint Clinical and mutational spectrum of Mowat-Wilson syndrome
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Eur J Med Genet 48:97-111. 2005
  10. doi request reprint De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 158:1765-70. 2012

Detail Information

Publications26

  1. pmc Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
    Christiane Zweier
    Institute of Human Genetics, Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Hum Genet 80:994-1001. 2007
    ....
  2. doi request reprint A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome
    Christiane Zweier
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Eur J Med Genet 51:358-61. 2008
    ..Our patient shows typical aspects of the "duplication 6q" syndrome such as hypertelorism, downslanting palpebral fissures, carp shaped mouth and joint contractures, but milder mental retardation and no growth retardation...
  3. ncbi request reprint Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:869-72. 2006
    ..The aberrant protein therefore contains all known functional domains, but might lack a so far unrecognized putative N-terminal acylation site, which is probably important for neuronal function and facial structures...
  4. pmc Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    BMC Med Genet 12:106. 2011
    ..Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability...
  5. doi request reprint Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression
    Markus Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Hum Mutat 31:722-33. 2010
    ..We therefore conclude that the phenotypic overlap of patients with MEF2C mutations and atypical Rett syndrome is due to the involvement of a common pathway...
  6. pmc Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
    Juliane Hoyer
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    J Med Genet 44:629-36. 2007
    ..However, data analysis is currently not standardised and little is known about its sensitivity and specificity...
  7. ncbi request reprint A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype
    Wolfram Heinritz
    Institute of Human Genetics, University of Leipzig Medical Faculty, Leipzig, Germany
    Am J Med Genet A 140:1223-7. 2006
    ..We report on the clinical findings in a 2(1/2)-year-old boy with some aspects out of the MWS-spectrum in addition to unusual anomalies and a novel missense mutation in the ZFHX1B gene...
  8. pmc De novo mutations in the genome organizer CTCF cause intellectual disability
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander Universitat Erlangen Nurnberg, 91054 Erlangen, Germany
    Am J Hum Genet 93:124-31. 2013
    ..Our findings indicate that haploinsufficiency of CTCF affects genomic interaction of enhancers and their regulated gene promoters that drive developmental processes and cognition. ..
  9. ncbi request reprint Clinical and mutational spectrum of Mowat-Wilson syndrome
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Eur J Med Genet 48:97-111. 2005
    ..The lack of missense mutations in MWS and MWS-like patients suggests there may be other, as yet unrecognized phenotypes, associated with missense mutations of this transcription factor...
  10. doi request reprint De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies
    Anne Gregor
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 158:1765-70. 2012
    ..This patient further delineates the genotypic and phenotypic variability associated with copy number variants from the 17q21.31 microdeletion region...
  11. pmc Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability
    Juliane Hoyer
    Institute of Human Genetics, University of Erlangen Nuremberg, Germany
    Am J Hum Genet 90:565-72. 2012
    ....
  12. doi request reprint Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature
    Andreas Busche
    Institute of Human Genetics, University Hospital Freiburg, Freiburg, Germany
    Eur J Med Genet 54:256-61. 2011
    ..In the two patients with larger microdeletions, severe mental retardation and significant short stature are present. Facial dysmorphism of patient 3 includes also signs of blepharophimosis-ptosis-epicanthus inversus syndrome...
  13. ncbi request reprint Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
    Anita Rauch
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet A 140:2063-74. 2006
    ..If molecular karyotyping is not available, subtelomeric screening should be performed...
  14. doi request reprint Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
    Anita Rauch
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Science 319:816-9. 2008
    ..Absence of PCNT results in disorganized mitotic spindles and missegregation of chromosomes. Mutations in related genes are known to cause primary microcephaly (MCPH1, CDK5RAP2, ASPM, and CENPJ)...
  15. doi request reprint New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas
    Wolfram Heinritz
    Institute of Human Genetics, Medical Faculty at the University of Leipzig, Leipzig, Germany
    Ann Hum Genet 73:283-91. 2009
    ..Our study extends the mutational spectrum and understanding of pathogenic effects of mutations in EXT1 and EXT2...
  16. pmc CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, 91054 Erlangen, Germany
    Am J Hum Genet 85:655-66. 2009
    ..We therefore propose that an analogous shared synaptic mechanism contributes to the similar clinical phenotypes resulting from defects in human NRXN1 and CNTNAP2...
  17. ncbi request reprint Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis
    Kathrin Huehne
    University Hospital Erlangen, Institute of Human Genetics, Erlangen, Germany
    Neuromuscul Disord 18:159-66. 2008
    ..7335164-7336545del), a homozygous insertion c.722_723insC in exon 7 and two compound heterozygous mutations (p.Q558X+p.L717R). The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation...
  18. pmc Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions
    Christiane Zweier
    Institute of Human Genetics, Erlangen, Germany
    Am J Hum Genet 80:510-7. 2007
    ..We therefore conclude that TBX1 gain-of-function mutations can result in the same phenotypic spectrum as haploinsufficiency caused by loss-of-function mutations or deletions...
  19. ncbi request reprint "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene
    Christiane Zweier
    Institute of Human Genetics, Friedrich Alexander University of Erlangen Nuremberg, Erlangen, Germany
    Am J Med Genet 108:177-81. 2002
    ..We demonstrate that there is a specific clinical entity with a recognizable facial gestalt, mental retardation and variable MCAs which we propose be called the "Mowat-Wilson syndrome."..
  20. ncbi request reprint Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity
    Ronny Jung
    Children and Youth Hospital, University of Erlangen Nuremberg, Erlangen, Germany
    Mol Genet Metab 88:256-60. 2006
    ..In summary, we report the first patient with the exceptional rare findings of both SSADH deficiency and partial WAGR/WAGRO syndrome...
  21. pmc Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator
    Christian T Thiel
    Institute of Human Genetics, University of Erlangen Nurnberg, Erlangen, Germany
    Am J Hum Genet 77:795-806. 2005
    ..Anauxetic dysplasia mutations thus lead to poor processing of ribosomal RNA while allowing normal mRNA processing and, therefore, genetically separate the different functions of RNase MRP...
  22. ncbi request reprint 9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic
    Christiane Zweier
    Eur J Med Genet 48:360-2. 2005
    ..9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic...
  23. pmc Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development
    BABACAR CISSE
    Department of Microbiology, Columbia University Medical Center, New York, NY 10032, USA
    Cell 135:37-48. 2008
    ..These results identify E2-2 as a specific transcriptional regulator of the PDC lineage in mice and humans and reveal a key function of E proteins in the innate immune system...
  24. ncbi request reprint Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease
    Denise Horn
    Am J Med Genet A 124:102-4. 2004
  25. pmc SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
    Martin Zenker
    J Med Genet 44:651-6. 2007
    ..Mutations of SOS1, the gene encoding a guanine nucleotide exchange factor for Ras, have been the most recent discoveries in patients with NS, but this gene has not been studied in patients with CFCS...
  26. ncbi request reprint Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome
    Sibylle Strenge
    Am J Med Genet A 143:1528-30. 2007