Search Results - "Rott, H D"

International recommendations and guidelines for the safe use of diagnostic ultrasound in medicine by Barnett, S B, Ter Haar, G R, Ziskin, M C, Rott, H D, Duck, F A, Maeda, K

“…Modern sophisticated ultrasonographic equipment is capable of delivering substantial levels of acoustic energy into the body when used at maximum outputs. The…”
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Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis by Mayer, K, Goedbloed, M, van Zijl, K, Nellist, M, Rott, H-D

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The sensitivity of biological tissue to ultrasound by Barnett, S B, Rott, H D, ter Haar, G R, Ziskin, M C, Maeda, K

“…Mammalian tissues have differing sensitivities to damage by physical agents such as ultrasound. This article evaluates the scientific data in terms of known…”
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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 by WÖHRLE, D, KOTZOT, D, STEINBACH, P, HIRST, M. C, MANCA, A, KORN, B, SCHMIDT, A, BARBI, G, ROTT, H.-D, POUSTKA, A, DAVIES, K. E

“…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…”
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A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus by FAHSOLD, R, ROTT, H.-D, LORENZ, P

“…Following the observation of a patient suffering from tuberous sclerosis (TSC) with a de novo reciprocal translocation t(3;12) (p26.3;q23.3), we have…”
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A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH) by Rauch, A, Pfeiffer, R A, Trautmann, U, Liehr, T, Rott, H D, Ulmer, R

“…In seven cases additional minute chromosomes studied by FISH were identified as no. 3, 11, 15, 18, 21 and X. Findings were unexpected except for partial…”
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Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance by Behninger, C, Rott, H D

“…Osteopathia striata with cranial sclerosis (OS-CS) is characterized by linear striations of tubular bones and fan-shaped configurations of the ilia. Although…”
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Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS) by Rott, H D, Krieg, P, Rütschle, H, Kraus, C

“…Osteopathia striata with cranial sclerosis (OSCS), conductive hearing impairment and a characteristic facial appearance is the clinical manifestation in…”
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Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion by Liehr, T, Rautenstrauss, B, Grehl, H, Bathke, K D, Ekici, A, Rauch, A, Rott, H D

“…A female patient with clinical signs and symptoms of a demyelinating neuropathy was shown to have a duplication of the 1.5-Mb region on chromosome 17p11.2,…”
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Tuberous sclerosis in two sibs of normal parents by Rott, H D, Fahsold, R

“…We report on a family with two sibs suffering from tuberous sclerosis. The parents were normal in all clinical tests including Wood's light examination of the…”
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Mutations in the ZNF41 Gene Are Associated with Cognitive Deficits: Identification of a New Candidate for X-Linked Mental Retardation by Shoichet, Sarah A., Hoffmann, Kirsten, Menzel, Corinna, Trautmann, Udo, Moser, Bettina, Hoeltzenbein, Maria, Echenne, Bernard, Partington, Michael, van Bokhoven, Hans, Moraine, Claude, Fryns, Jean-Pierre, Chelly, Jamel, Rott, Hans-Dieter, Ropers, Hans-Hilger, Kalscheuer, Vera M.

“…Nonsyndromic X-linked mental retardation (MRX) is defined by an X-linked inheritance pattern of low IQ, problems with adaptive behavior, and the absence of…”
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Kartagener's syndrome and the syndrome of immotile cilia by Rott, H D

“…Kartagener's syndrome (KS) is a hereditary disease with typical symptoms of situs inversus, bronchiectasis, and chronic infections of the nasal mucosa…”
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Tuberous sclerosis in a child with de novo translocation t(3;12) (p26.3;q23.3) by Fahsold, R, Rott, H D, Claussen, U, Schmalenberger, B

“…We report on an 8-year-old boy with severe mental retardation, epileptic seizures, autistic behaviour, and X-ray CT findings of the skull characteristics for…”
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Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects by Mayer, Karin, Ballhausen, Wolfgang, Rott, Hans-Dieter

“…Mutation analyses in tuberous sclerosis (TSC) have reported a wide variety of disease‐causing aberrations in the two known predisposing genes, TSC1 and TSC2 on…”
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Partial sweat gland aplasia in incontinentia pigmenti Bloch-Sulzberger. Implications for nosologic classification by Rott, H D

“…Dermatoglyphic investigation of palm prints in patients with Incontinentia pigmenti revealed in five of eight cases a partial ridge dissociation with lack of…”
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Myotonic muscular dystrophy: structural changes visualized by ultrasound by KASCHKA, W. P, DRUSCHKY, K.-F, ROTT, H.-D

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EFSUMB: watchdog tutorial by Rott, H D

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Tuberous sclerosis type 1: Three novel mutations detected in exon 15 by a combination of HDA and TGGE by Hass, Juliette, Mayer, Karin, Rott, Hans-Dieter

“…Tuberous sclerosis (TSC) is an autosomal dominant disorder which is genetically heterogeneous with two genes, TSC1 and TSC2. TSC1 consists of 23 exons with…”
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Specific Y chromosome fluorescence in cells from hair roots by Rott, H D

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Chromosomal mosaicism in two patients with epidermal verrucous nevus. Demonstration of chromosomal breakpoint by Stosiek, N, Ulmer, R, von den Driesch, P, Claussen, U, Hornstein, O P, Rott, H D

“…Linear epidermal nevi are hamartomas that originate in embryonic ectoderm. For epidermal nevi associated with involvement of other systems, such as the…”
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