Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Ingo Hansmann"'
Publikováno v:
Clinical Genetics. 46:187-192
Two patients with DiGeorge syndrome (DGS), one with and one without characteristic dysmorphic facial features, were studied by high resolution banding, fluorescence in situ hybridization (FISH) and quantitative Southern blotting. In both patients, ev
Autor:
Svetlana A. Yatsenko, Alma Kuechler, C. Daniel Eller, Pawel Stankiewicz, Uwe Claussen, Christiane Baldermann, York Marahrens, Christiane Gläser, James R. Lupski, Trilochan Sahoo, U. Lieser, Thomas Liehr, Monika Hagemann, Ingo Hansmann, Martin Hesse, Bernhard Horsthemke
Publikováno v:
American Journal of Medical Genetics Part A. :442-452
Few cases of de novo unbalanced X;autosome translocations associated with a normal or mild dysmorphic phenotype have been described. We report a 3-year-old dizygotic female twin with prenatally ascertained increased nuchal translucency. Prenatal chro
Publikováno v:
European journal of medical genetics. 58(3)
Short stature refers to the height of an individual which is below expected. The causes are heterogenous and influenced by several genetic and environmental factors. Chromosomal abnormalities are a major cause of diseases and cytogenetic mapping is o
Publikováno v:
Human Genetics. 109:479-486
Human karyopherin alpha2 (KPNA2), a member of the karyopherin alpha family, plays a key role in the nuclear import of proteins with a classical nuclear localization signal (NLS). KPNA2, as part of a karyopherin alpha-beta heterodimer, directly binds
Autor:
David J. Amor, Ingo Hansmann, Joannis Giannakudis, Albrecht Röpke, Jean-Pierre Fryns, Mike Schlicker, Agnes Bankier, Annegret Kujat, Małgorzata Krajewska-Walasek, Helen E. Hughes
Publikováno v:
European Journal of Human Genetics. 9:209-216
The Alagille syndrome (AGS), a congenital disorder affecting liver, heart, skeleton and eye in association with a typical face, is an autosomal dominant disease with nearly complete penetrance and variable expression. AGS is caused by mutations in th
Autor:
Jolanta Rujner, Bożena Piłacik, Christiane Löffler, Ioannis Giannakudis, Anna Gutkowska, Paweł Stankiewicz, Małgorzata Krajewska-Walasek, Manjunath Nimmakayalu, Ingo Hansmann, Antje Krüger
Publikováno v:
American Journal of Medical Genetics. 103:166-171
Mutations in the human gene Jagged1 (JAG1) localized in 20p12 have been recently identified as causal for the anomalies found in patients with Alagille syndrome (AGS). This gene encodes a ligand for the Notch1 transmembrane receptor, which plays a ke
Autor:
Jürgen Kunz, Hannelore Thiele, Christiane Baldermann, Ingo Hansmann, Paweł Stankiewicz, Nadeshda Werner, Sylvia Dörr, Gudrun A. Rappold, Ioannis Giannakudis, Antje Krüger
Publikováno v:
American Journal of Medical Genetics. 103:56-62
We report on a three-month-old boy with a 46,XY,der(Y)t(Y;7)(p11.32;p15.3) karyotype and growth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral crypt
Autor:
Pereira Joseluiz, Angus John Clarke, Lars Edström, Naidu Sakkubai, Ingo Hansmann, Maria Anvret, Fengqing Xiang, Zhiping Zhang, Budden Sarojini, C. D. DeLozier-Blanchet
Publikováno v:
Karolinska Institutet
Rett syndrome (RS) is a disease of neurological development. First reported 30 years ago in 1966, its biological and genetic basis remains obscure. RS is commonly thought of as an X linked dominant disorder lethal to hemizygous males. The few familia
Autor:
Richard P. Woychik, Ingo Hansmann, Paul J. Furdon, John G. Powell, Wen Ji Chen, Scott J. Bultman, Heajoon Y. Kwon, William O. Wilkison, Christiane Löffler, Anton-Lewis Usala
Publikováno v:
Proceedings of the National Academy of Sciences. 91:9760-9764
The agouti (a) locus in mouse chromosome 2 normally regulates coat color pigmentation. The mouse agouti gene was recently cloned and shown to encode a distinctive 131-amino acid protein with a consensus signal peptide. Here we describe the cloning of
Publikováno v:
Medicine, Science and the Law. 34:256-262
An unusual case of paternity testing is reported in which determination of paternity was an essential part of a genetic diagnosis. A.Y-chromosomal abnormality, observed in a 33-year-old male whose wife had experienced a series of spontaneous abortion