Reinhard Ullmann

Summary

Affiliation: Max Planck Institute for Molecular Genetics
Country: Germany

Publications

  1. ncbi request reprint Analysis of chromosome-11 aberrations in pulmonary and gastrointestinal carcinoids: an array comparative genomic hybridization-based study
    Susanna Petzmann
    Institute of Pathology, Medical School Graz, Austria
    Virchows Arch 445:151-9. 2004
  2. ncbi request reprint Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7
    Grit Ebert
    Max Planck Institute for Molecular Genetics, Ihnestraße 63 73, 14195 Berlin, Germany
    BMC Genomics 15:537. 2014
  3. 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
  4. ncbi request reprint Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
    Reinhard Ullmann
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Hum Mutat 28:674-82. 2007
  5. ncbi request reprint Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH
    Andreas Tzschach
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 143:333-7. 2007
  6. ncbi request reprint Characterization of interstitial Xp duplications in two families by tiling path array CGH
    Andreas Tzschach
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 146:197-203. 2008
  7. doi request reprint Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement
    Andreas Tzschach
    Max Planck Institute for Molecular Genetics, Human Molecular Genetics, Berlin, Germany
    Am J Med Genet A 152:1008-12. 2010
  8. pmc Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
    Andreas Tzschach
    Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Eur J Hum Genet 18:291-5. 2010
  9. doi request reprint Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome
    Vera M Kalscheuer
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 146:2053-9. 2008
  10. pmc A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
    Eva Klopocki
    Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany
    Eur J Pediatr 167:903-8. 2008

Detail Information

Publications52

  1. ncbi request reprint Analysis of chromosome-11 aberrations in pulmonary and gastrointestinal carcinoids: an array comparative genomic hybridization-based study
    Susanna Petzmann
    Institute of Pathology, Medical School Graz, Austria
    Virchows Arch 445:151-9. 2004
    ..The array CGH data were consistent with the data of a previously published classical CGH study and were additionally confirmed using fluorescence in situ hybridization in the present investigation...
  2. ncbi request reprint Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7
    Grit Ebert
    Max Planck Institute for Molecular Genetics, Ihnestraße 63 73, 14195 Berlin, Germany
    BMC Genomics 15:537. 2014
    ....
  3. 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...
  4. ncbi request reprint Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
    Reinhard Ullmann
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Hum Mutat 28:674-82. 2007
    ..Thus we conclude that these aberrations represent recurrent genomic imbalances which predispose to autism and/or MR...
  5. ncbi request reprint Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH
    Andreas Tzschach
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 143:333-7. 2007
    ..The absence of limb abnormalities in this patient suggests either a location of the SHFM1 causing factor distal to this deletion, or reduced penetrance of haploinsufficiency of a SHFM1 factor within the deleted interval...
  6. ncbi request reprint Characterization of interstitial Xp duplications in two families by tiling path array CGH
    Andreas Tzschach
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 146:197-203. 2008
    ..These comprise known mental retardation genes such as MAOA, NDP, TM4SF2, NDP, RSK2, and CDKL5. Duplication of MAOA will be discussed as a possible cause of obesity...
  7. doi request reprint Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement
    Andreas Tzschach
    Max Planck Institute for Molecular Genetics, Human Molecular Genetics, Berlin, Germany
    Am J Med Genet A 152:1008-12. 2010
    ..Reports of patients with overlapping deletions will be needed to elucidate the role of individual genes and to establish genotype-phenotype correlations...
  8. pmc Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
    Andreas Tzschach
    Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Eur J Hum Genet 18:291-5. 2010
    ..This finding suggests that haploinsufficiency of C10orf11 contributes to the cognitive defects in 10q22 deletion patients...
  9. doi request reprint Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome
    Vera M Kalscheuer
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 146:2053-9. 2008
    ..Thus, the possibility exists that more patients with a less severe encephalopathy carry a mutation in this gene...
  10. pmc A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH
    Eva Klopocki
    Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany
    Eur J Pediatr 167:903-8. 2008
    ..We present a genotype-phenotype correlation and comparison with patients from the literature...
  11. doi request reprint Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23)
    Andreas Tzschach
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Ophthalmic Genet 29:37-40. 2008
    ....
  12. pmc A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation
    Mohammad Mahdi Motazacker
    Max Planck Institute for Molecular Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Hum Genet 81:792-8. 2007
    ....
  13. pmc Mapping translocation breakpoints by next-generation sequencing
    Wei Chen
    Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany
    Genome Res 18:1143-9. 2008
    ..Its implementation will greatly facilitate large-scale breakpoint mapping and gene finding in patients with disease-associated balanced translocations...
  14. doi request reprint Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature
    Andreas Tzschach
    Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Med Genet A 149:242-5. 2009
    ..Additional patients with well-characterized deletions within 2p11.2 and 2p12 will be needed to determine the role of individual genes for the clinical manifestations...
  15. doi request reprint High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations
    Roxana Kariminejad
    Kariminejad Najmabadi Pathology and Genetics Center, Tehran, Iran
    Hum Mutat 32:1427-35. 2011
    ....
  16. doi request reprint Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization
    Sarah A Shoichet
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Amyotroph Lateral Scler 10:162-9. 2009
    ..Analysis of such aberrations serves as a starting point in deciphering the aetiology of this complex disease, given that affected genes can be considered candidates for influencing disease susceptibility...
  17. ncbi request reprint Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome
    Joyce So
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 146:103-9. 2008
    ..This is the first report of arteria lusoria (esophageal vascular ring) in a patient with WHS...
  18. ncbi request reprint A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2
    Eva Klopocki
    Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Med Genet A 140:873-7. 2006
    ..This is the first report of array-CGH analysis of an interstitial deletion at chromosome 8p...
  19. doi request reprint A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures
    Andreas Busche
    Charite Universitatsmedizin Berlin, Institute of Medical Genetics, Berlin, Germany
    Eur J Med Genet 51:615-21. 2008
    ..These features are not allegeable by the deletion 9q34.3 identified in the patient reported here and may be a hint that terminal duplication of 2p could be associated with exophthalmos and contractures...
  20. doi request reprint Positioning of necrotic lobular intraepithelial neoplasias (LIN, grade 3) within the sequence of breast carcinoma progression
    Vivien Boldt
    Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin, Germany
    Genes Chromosomes Cancer 49:463-70. 2010
    ..Our data suggest that, at the genetic level, LIN3 represents a highly advanced lesion with considerable resemblance to carcinomas and, therefore, might represent the transition state from an intraepithelial neoplasm to breast carcinoma...
  21. pmc Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing
    Wei Chen
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Eur J Hum Genet 18:539-43. 2010
    ..Our results show the feasibility of paired-end sequencing of systematic breakpoint mapping and gene finding in patients with disease-associated chromosome rearrangements...
  22. ncbi request reprint Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay
    Fikret Erdogan
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 143:172-8. 2007
    ....
  23. doi request reprint An integrative approach for analyzing the interplay of genetic and epigenetic changes in tumors
    Artur Muradyan
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Arch Pathol Lab Med 132:1557-61. 2008
    ....
  24. doi request reprint Chromosome deletions in 13q33-34: report of four patients and review of the literature
    Joanna Walczak-Sztulpa
    Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 146:337-42. 2008
    ..Molecular cytogenetic definition of a common deleted region in all patients suggests ARHGEF7 as a candidate gene for mental retardation and microcephaly...
  25. doi request reprint Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
    Andreas Walter Kuss
    Max Planck Institute for Molecular Genetics, Ihnestr 73, 14195 Berlin, Germany
    Hum Genet 129:141-8. 2011
    ..These findings will be instrumental in the identification of the underlying genes...
  26. doi request reprint Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP
    Fabienne Ropers
    Department of Pediatrics and Institute of Medical and Human Genetics, Charite Universitatsmedizin Berlin, Augustenburgerplatz 1, Berlin, Germany
    Hum Mol Genet 20:2585-90. 2011
    ..In line with this assumption, we could show that this mutation leads to significantly reduced SWIP levels and to destabilization of the entire WASH complex. Thus, our findings suggest that SWIP is a novel gene for ARID...
  27. pmc A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation
    Vera M Kalscheuer
    Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Hum Mutat 30:61-8. 2009
    ..These results suggest that collybistin has a key role in membrane trafficking of gephyrin and selected GABA(A) receptor subtypes involved in epilepsy, anxiety, aggression, insomnia, and learning and memory...
  28. doi request reprint Christianson syndrome in a patient with an interstitial Xq26.3 deletion
    Andreas Tzschach
    Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
    Am J Med Genet A 155:2771-4. 2011
    ..This patient broadens the spectrum of SLC9A6 mutations and contributes to the clinical delineation of Christianson syndrome. This is also the first patient with a deletion affecting both SLC9A6 and the complete FHL1 gene...
  29. doi request reprint Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients
    Stella Amrei Kunde
    Neuroscience Research Center, Charité CrossOver, Charite Universitaetsmedizin Berlin, Campus Mitte, Chariteplatz 1, 10117 Berlin, Germany
    Hum Genet 132:461-71. 2013
    ..We conclude that reduced JNK3 activity has potentially deleterious effects on neuronal function via altered regulation of a set of post-synaptic proteins...
  30. pmc Genomic loss of the putative tumor suppressor gene E2A in human lymphoma
    Anne Steininger
    Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany
    J Exp Med 208:1585-93. 2011
    ..These data demonstrate a tumor suppressor function of E2A in human lymphoid cells and could help to develop new treatment strategies for human lymphomas with altered E2A activity...
  31. ncbi request reprint Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
    Vera M Kalscheuer
    Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195, Berlin, Germany
    Hum Genet 121:501-9. 2007
    ....
  32. ncbi request reprint SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly
    Masoud Garshasbi
    Max Planck Institute for Molecular Genetics, Ihnestrasse 63 73, 14195 Berlin, Germany
    Hum Genet 118:708-15. 2006
    ..Therefore the phenotypic spectrum of MCPH1 mutations may be wider than previously assumed, with ARMR being the only consistent clinical finding...
  33. pmc CGHPRO -- a comprehensive data analysis tool for array CGH
    Wei Chen
    Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
    BMC Bioinformatics 6:85. 2005
    ....
  34. pmc Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
    Eva Klopocki
    Institut fur Medizinische Genetik, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Hum Genet 80:232-40. 2007
    ..We hypothesize that TAR syndrome is associated with a deletion on chromosome 1q21.1 but that the phenotype develops only in the presence of an additional as-yet-unknown modifier (mTAR)...
  35. doi request reprint A cryptic unbalanced translocation resulting in del 13q and dup 15q
    Alexandra Teszas
    Department of Medical Genetics and Child Development, University of Pecs, Hungary
    Am J Med Genet A 146:2570-3. 2008
  36. ncbi request reprint Chromosomal alterations in low-grade endometrial stromal sarcoma and undifferentiated endometrial sarcoma as detected by comparative genomic hybridization
    Iris Halbwedl
    Department of Pathology, Medical University of Graz, Auenbruggerplatz 25, A 8036 Graz, Austria
    Gynecol Oncol 97:582-7. 2005
    ..The aim of the present study was to characterize the karyotypic abnormalities in these malignant mesenchymal tumors and to find specific chromosomal aberrations with eventual correlation with histologic grades...
  37. ncbi request reprint Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?
    Anne Marie Bisgaard
    Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK 2100 Copenhagen, Denmark
    Eur J Med Genet 50:243-55. 2007
    ..These cases illustrate the need for careful assessment of the extended family in order to interpret the phenotypic consequences of abnormalities identified using array-CGH...
  38. ncbi request reprint Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma
    Sandrine Gratias
    Institut fur Humangenetik, Institut fur Zellbiologie, and Augenklinik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
    Cancer Res 67:408-16. 2007
    ..Specifically, almost all retinoblastomas with 16q24 loss showed diffuse intraocular seeding. This suggests that genetic alterations in the minimal deleted region are associated with impaired cell-to-cell adhesion...
  39. ncbi request reprint Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption
    Stefan Meyer
    Academic Unit of Paediatric Oncology, Christie Hospital Trust, University of anchester, Manchester, UK
    Genes Chromosomes Cancer 46:359-72. 2007
    ..In addition, cryptic imbalances as detected here might account for overexpression of EVI1 in AML without overt 3q26 rearrangements...
  40. pmc Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2
    Linda P Jakobsen
    J Med Genet 44:381-6. 2007
    ....
  41. pmc Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
    Heather C Mefford
    Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 81:1057-69. 2007
    ..We also identified the reciprocal duplication, which appears to be enriched in samples from patients with epilepsy. We describe the first example of a recurrent genomic disorder associated with diabetes...
  42. ncbi request reprint Distinct sequences on 11q13.5 and 11q23-24 are frequently coamplified with MLL in complexly organized 11q amplicons in AML/MDS patients
    Andrea Zatkova
    Institut für Medizinische Biologie, Universitat Wien, Wien, Austria
    Genes Chromosomes Cancer 39:263-76. 2004
    ..Thus, we demonstrated that 11q amplicons in AML/MDS patients display a complex organization and have provided evidence for coamplification of two additional regions on the long arm of chromosome 11 that may harbor candidate target genes...
  43. ncbi request reprint Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
    George Kirov
    Department of Psychological Medicine, Cardiff University, Henry Wellcome Building, Heath Park, Cardiff CF14 4XN, UK
    Hum Mol Genet 17:458-65. 2008
    ..Both genes have been affected by CNVs in patients with autism and mental retardation, but neither has been previously implicated in SZ...
  44. pmc Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
    Rikke S Møller
    Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark
    Am J Hum Genet 82:1165-70. 2008
    ..In the present study, we show that truncating mutations of DYRK1A result in a clinical phenotype including microcephaly...
  45. doi request reprint Epilepsy and mental retardation limited to females: an under-recognized disorder
    Ingrid E Scheffer
    Epilepsy Research Centre, Department of Medicine, University of Melbourne, Heidelberg Repatriation Hospital, Banksia Street, Heidelberg VIC 3081, Australia
    Brain 131:918-27. 2008
    ..In single cases, diagnosis will depend on identification of the molecular basis...
  46. ncbi request reprint Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A
    Rikke S Møller
    Danish Epilepsy Centre, Dianalund, Denmark
    Epilepsia 49:1091-4. 2008
    ..We therefore recommend that SMEI patients without SCN1A microdeletions or point mutations should be investigated for chromosomal rearrangements...
  47. ncbi request reprint Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene
    Eva Klopocki
    Institute of Medical Genetics, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany
    Eur J Hum Genet 14:1274-9. 2006
    ..We suggest that the UMS phenotype in conjunction with the characteristic facial changes and mental retardation observed in our patient is owing to the deletion of TBX3 and the involvement of neighbouring genes...
  48. ncbi request reprint Atypical goblet cell hyperplasia in congenital cystic adenomatoid malformation as a possible preneoplasia for pulmonary adenocarcinoma in childhood: A genetic analysis
    Elvira Stacher
    Institute of Pathology, University of Graz, Graz, Austria
    Hum Pathol 35:565-70. 2004
    ..This likely reflects an association with goblet cell differentiation, but it also drives proliferation in AGCH...
  49. ncbi request reprint The position of pulmonary carcinoids within the spectrum of neuroendocrine tumors of the lung and other tissues
    Reinhard Ullmann
    Institute of Pathology, Medical School Graz, Graz, Austria
    Genes Chromosomes Cancer 34:78-85. 2002
    ..We also identified the feasibility of hierarchical clustering to get some clues on relationship between different tumor types. This study further argues against a transition of ATC to high-grade neuroendocrine lung carcinoma...
  50. doi request reprint A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia
    Mette Gilling
    Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark
    Eur J Hum Genet 16:312-9. 2008
    ..Identification of multiple genetic changes in this patient with childhood autism agrees with the most frequently suggested genetic model of ASDs as complex, polygenic disorders...
  51. ncbi request reprint Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family
    Linda P Jakobsen
    Department of Cellular and Molecular Medicine, Panum Institute, Wilhelm Johannsen Centre for Functional Genome Research, Copenhagen, Denmark
    Am J Med Genet A 143:2716-21. 2007
    ..Our data suggest that an unidentified CL/P gene, or a non-coding IRF6 regulatory element in this linkage interval may have caused CL/P in this family...
  52. ncbi request reprint Bronchiolar columnar cell dysplasia--genetic analysis of a novel preneoplastic lesion of peripheral lung
    Reinhard Ullmann
    Laboratory of Molecular Cytogenetics, Institute of Pathology, Auenbruggerplatz 25, 8036, Graz, Austria
    Virchows Arch 442:429-36. 2003
    ..Summarizing our data from morphological and genetic analysis, we conclude that BCCD is a preneoplasia of the bronchiolar epithelium and most probably represents an additional precursor lesion of lung adenocarcinomas...