Publications of Reinhard Ullmann
All genres
Journal Article (119)
41.
Journal Article
4 (3), pp. 143 - 149 (2010)
Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal. Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation 42.
Journal Article
152A (4), pp. 1008 - 1012 (2010)
Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement. American Journal of Medical Genetics. Part A. 43.
Journal Article
Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree1. Molecular Psychiatry, pp. 1 - 13 (2010)
44.
Journal Article
18 (3), pp. 291 - 295 (2010)
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 45.
Journal Article
18 (3), pp. 291 - 295 (2010)
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. European Journal of Human Genetics: EJHG 46.
Journal Article
49 (5), pp. 463 - 470 (2010)
Positioning of necrotic lobular intraepithelial neoplasias (LIN, grade3) within the sequence of breast carcinoma progression. Genes Chromosomes Cancer 47.
Journal Article
49 (5), pp. 463 - 470 (2010)
Positioning of necrotic lobular intraepithelial neoplasias (LIN, grade3) within the sequence of breast carcinoma progression. Genes Chromosomes Cancer 48.
Journal Article
152A (3), pp. 638 - 645 (2010)
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. American Journal of Medical Genetics. Part A. 49.
Journal Article
148 (2), pp. 293 - 300 (2010)
Prognostic relevance of TLX3 (HOX11L2) expression in childhood T-cell acute lymphoblastic leukaemia treated with Berlin–Frankfurt–Münster (BFM) protocols containing early and late re-intensification elements. British Journal of Hematology 50.
Journal Article
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing. European Journal of Human Genetics (2010)
51.
Journal Article
149 (10), pp. 2236 - 2240 (2009)
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder. American Journal of Medical Genetics Part A 52.
Journal Article
149 (8), pp. 1830 - 1833 (2009)
Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24. American Journal of Medical Genetics Part A 53.
Journal Article
40 (9), pp. 1065 - 1067 (2009)
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics 54.
Journal Article
17 (8), pp. 1010 - 1018 (2009)
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. European Journal of Human Genetics 55.
Journal Article
149 (7), pp. 1544 - 1549 (2009)
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis. American Journal of Medical Genetics Part A 56.
Journal Article
94 (7), pp. 2658 - 2664 (2009)
Expanded clinical spectrum in hepatocyte nuclear factor 1B-maturity-onset diabetes of the young. Journal of Clinical Endocrinology & Metabolism 57.
Journal Article
10 (3), pp. 162 - 169 (2009)
Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization. Amyotrophic Lateral Sclerosis 58.
Journal Article
32 (3), pp. 226 - 230 (2009)
Hypergonadotropic hypogonadism in a patient with inv ins (2;4). International Journal of Andrology 59.
Journal Article
48 (6), pp. 510 - 520 (2009)
AML/MDS with 11q/MLL amplification show characteristic gene expression signature and interplay of DNA copy number changes. Genes, Chromosomes and Cancer 60.
Journal Article
149 (2), pp. 242 - 245 (2009)
Interstitial deletion 2p11.2-p12: Report of a patient with mental retardation and review of the literature. American Journal of Medical Genetics Part A