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International recommendations and guidelines for the safe use of diagnostic ultrasound in medicine.
- S. Barnett, G. Ter Haar, M. Ziskin, H. Rott, F. Duck, K. Maeda
- Ultrasound in medicine & biology
- 1 March 2000
Modern sophisticated ultrasonographic equipment is capable of delivering substantial levels of acoustic energy into the body when used at maximum outputs. The risk of producing bioeffects has been… Expand
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
- Özge Altug Teber, G. Gillessen‐kaesbach, +22 authors D. Wieczorek
- European Journal of Human Genetics
- 1 November 2004
To define the range of phenotypic expression in Treacher Collins syndrome (TCS; Franceschetti–Klein syndrome), we performed mutation analysis in the TCOF1 gene in 46 patients with tentative diagnosis… Expand
"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…
- C. Zweier, B. Albrecht, +5 authors A. Rauch
- American journal of medical genetics
- 15 March 2002
Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with "syndromic Hirschsprung disease" with mental retardation (MR) and multiple congenital anomalies (MCA), but it was unclear if… Expand
The sensitivity of biological tissue to ultrasound.
Mammalian tissues have differing sensitivities to damage by physical agents such as ultrasound. This article evaluates the scientific data in terms of known physical mechanisms of interaction and the… Expand
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.
- D. Wöhrle, D. Kotzot, +7 authors K. Davies
- Biology, Medicine
- American journal of human genetics
- 1 August 1992
A gene designated "FMR-1" has been isolated at the fragile-X locus. One exon of this gene is carried on a 5.1-kb EcoRI fragment that exhibits length variation in fragile-X patients because of… Expand
Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences.
- K. Mayer, W. Ballhausen, W. Leistner, H. Rott
- Biology, Medicine
- Biochimica et biophysica acta
- 15 November 2000
Disease causing aberrations in both tuberous sclerosis predisposing genes, TSC1 and TSC2, comprise nearly every type of alteration with a predominance of small truncating mutations distributed over… Expand
Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS).
Osteopathia striata with cranial sclerosis (OSCS), conductive hearing impairment and a characteristic facial appearance is the clinical manifestation in carrier women of an X-linked disease. We… Expand
Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis
- K. Mayer, M. Goedbloed, K. V. van Zijl, M. Nellist, H. Rott
- Medicine, Biology
- Journal of Medical Genetics
- 30 April 2004
Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by mutations in either the TSC1 or TSC2 gene. Both genes are tumour suppressor genes and encode the proteins hamartin and tuberin,… Expand
Kartagener's syndrome and the syndrome of immotile cilia
- H. Rott
- Biology, Medicine
- Human Genetics
- 15 February 1979
SummaryKartagener's syndrome (KS) is a hereditary disease with typical symptoms of situs inversus, bronchiectasis, and chronic infections of the nasal mucosa. Autosomal recessive inheritance cannot… Expand
X-linked ocular albinism. Characteristic pattern of affection in female carriers.
The authors report on a family with X-linked ocular albinism. Examined were one of three affected males and eight females. Six women were carriers and showed iris retroillumination and typical… Expand