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- Publications
- Influence
A new bacteriophage P1–derived vector for the propagation of large human DNA fragments
- P. A. loannou, C. Amemiya, +5 authors P. Jong
- Biology, Medicine
- Nature Genetics
- 1994
We have designed a P1 vector (pCYPAC–1) for the introduction of recombinant DNA into E. coli using electroporation procedures. The new cloning system, P1–derived arteficial chromosomes (PACs), was… Expand
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
- T. Cullup, A. L. Kho, +34 authors H. Jungbluth
- Biology, Medicine
- Nature Genetics
- 4 December 2012
Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the… Expand
Maternal methylation imprints on human chromosome 15 are established during or after fertilization
- O. el-Maarri, K. Buiting, +9 authors B. Horsthemke
- Biology, Medicine
- Nature Genetics
- 1 March 2001
Prader-Willi syndrome (PWS) is a neurogenetic disorder that results from the lack of transcripts expressed from the paternal copy of the imprinted chromosomal region 15q11–q13 (refs. 1,2). In some… Expand
Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
- E. Petek, C. Windpassinger, +5 authors K. Wagner
- Biology, Medicine
- American journal of human genetics
- 1 April 2001
Gilles de la Tourette syndrome (GTS) is a complex neuropsychiatric disorder characterized by multiple motor and phonic tics. We identified a male patient with GTS and other anomalies. It was… Expand
Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations
- C. Mignon-Ravix, D. Depetris, +9 authors Marie-Geneviève Mattei
- Biology, Medicine
- European Journal of Human Genetics
- 1 April 2007
Unbalanced translocations, that involve the proximal chromosome 15 long arm and the telomeric region of a partner chromosome, result in a karyotype of 45 chromosomes with monosomy of the proximal 15q… Expand
Human Chromosome 7: DNA Sequence and Biology
- S. Scherer, J. Cheung, +87 authors Lap-Chee Tsui
- Biology, Medicine
- Science
- 2 May 2003
DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description,… Expand
Predictive diagnosis of the cancer prone Li–Fraumeni syndrome by accident: new challenges through whole genome array testing
- T. Schwarzbraun, A. C. Obenauf, +4 authors P. Kroisel
- Biology, Medicine
- Journal of Medical Genetics
- 5 March 2009
Background: Li–Fraumeni syndrome greatly increases the risk of developing several types of cancer and is usually caused by TP53 germline mutations. Predictive testing of at-risk family members is… Expand
Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome.
- W. Emberger, E. Petek, P. Kroisel, H. Zierler, K. Wagner
- Biology, Medicine
- American journal of medical genetics
- 15 December 2001
We report the clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q. The first patient is a currently 11-year-old female proposita with a de novo unbalanced… Expand
TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12.
- R. Haire, Y. Ohta, J. E. Lewis, S. Fu, P. Kroisel, G. Litman
- Biology, Medicine
- Human molecular genetics
- 1 June 1994
A gene for a novel, putative cytoplasmic tyrosine kinase, TXK has been isolated from a human peripheral blood cDNA library. The complete nucleotide sequence of the cDNA indicates that it is related… Expand
Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few…
- E. Petek, D. E. Jenne, +6 authors H. Kehrer-Sawatzki
- Biology, Medicine
- Journal of medical genetics
- 1 July 2003
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an estimated birth incidence of 1 in 2500 and marked variability of expression. The hallmark symptoms of the fully manifested… Expand