Výsledky vyhledávání - "Hans-Dieter Rott"

A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH)

Autor: Udo Trautmann, R. Ulmer, Rudolf A. Pfeiffer, Anita Rauch, Hans-Dieter Rott, Thomas Liehr

Publikováno v: Clinical Genetics. 42:84-90

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 trisomy 21 in an adolescent with minor features of Down's syndrome. Moreover, an i(18p) in a ment

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1281b83992055440622c2ca5ce368b23
https://doi.org/10.1111/j.1399-0004.1992.tb03145.x

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?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 gene

Autor: Hans-Dieter Rott, Maike Beese, Gabriele Gillessen-Kaesbach, Anita Rauch, Beate Mitulla, Beate Albrecht, Rolf Behrens, Christiane Zweier

Publikováno v: American Journal of Medical Genetics. 108:177-181

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 Hirschsprung disease is an obligate symptom of these

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dffc545f554c9f65bcca857bdbcd7fba
https://doi.org/10.1002/ajmg.10226

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Mutation screening of the entire coding regions of theTSC1 and theTSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects

Autor: Karin Mayer, Wolfgang G. Ballhausen, Hans-Dieter Rott

Publikováno v: Human Mutation. 14:401-411

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 chromosomes 9q34 and 16p13, comprising mainly small mutations distributed over the entire

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0471c2471271a345e2581dd2e764df9f
https://doi.org/10.1002/(sici)1098-1004(199911)14:5<401::aid-humu6>3.0.co

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Extracutaneous analogies of Blaschko lines

Autor: Hans-Dieter Rott

Publikováno v: American Journal of Medical Genetics. 85:338-341

In females, early random X-chromosome inactivation in the late blastocyst and subsequent embryonic development cause a random distribution of cells with an active paternal or maternal X-chromosome. Carriers of X-linked disorders are mostly healthy bu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d2b7b66ff666b791caf066bc39dca29c
https://doi.org/10.1002/(sici)1096-8628(19990806)85:4<338::aid-ajmg5>3.0.co

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Tuberous sclerosis in a child with de novo translocation t(3; 12) (p26.3; q23.3)

Autor: Uwe Claussen, R. Fahsold, Hans-Dieter Rott, B. Schmalenberger

Publikováno v: Clinical Genetics. 40:326-328

We report on an 8-year-old boy with severe mental retardation, epileptic seizures, autistic behaviour, and X-ray CT findings of the skull characteristic for tuberous sclerosis. At the age of 9 years, first signs of adenoma sebaceum developed. Chromos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3359a0dbe5570d817d830a1af4d52c24
https://doi.org/10.1111/j.1399-0004.1991.tb03103.x

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Partial sweat gland aplasia in incontinentia pigmenti Bloch-Sulzberger

Autor: Hans-Dieter Rott

Publikováno v: Clinical Genetics. 26:36-38

Dermatoglyphic investigation of palm prints in patients with Incontinentia pigmenti revealed in five of eight cases a partial ridge dissociation with lack of sweat gland pores. This disease can, therefore, be accepted as a second X-linked anhidrotic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9a118d87d588d75458158ae34b11bf7
https://doi.org/10.1111/j.1399-0004.1984.tb00784.x

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The sensitivity of biological tissue to ultrasound

Autor: Marvin C. Ziskin, Kazuo Maeda, Hans-Dieter Rott, Gail ter Haar, Stanley B. Barnett

Publikováno v: Ultrasound in Medicine & Biology. 23:805-812

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 impact on pre- and postnatal tissues. Actively div

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e6df9611f50a00eb173adeb4437323
https://doi.org/10.1016/s0301-5629(97)00027-6

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