Search Results - "Blechschmidt, Karin"

N-myc Downstream-Regulated Gene 1 Is Mutated in Hereditary Motor and Sensory Neuropathy–Lom by Kalaydjieva, Luba, Gresham, David, Gooding, Rebecca, Heather, Lisa, Baas, Frank, de Jonge, Rosalein, Blechschmidt, Karin, Angelicheva, Dora, Chandler, David, Worsley, Penelope, Rosenthal, Andre, King, Rosalind H.M., Thomas, P.K.

“…Hereditary motor and sensory neuropathies, to which Charcot-Marie-Tooth (CMT) disease belongs, are a common cause of disability in adulthood. Growing awareness…”
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Architecture and anatomy of the genomic locus encoding the human leukemia-associated transcription factor RUNX1/AML1 by Levanon, D, Glusman, G, Bangsow, T, Ben-Asher, E, Male, D A, Avidan, N, Bangsow, C, Hattori, M, Taylor, T D, Taudien, S, Blechschmidt, K, Shimizu, N, Rosenthal, A, Sakaki, Y, Lancet, D, Groner, Y

“…The RUNX1 gene on human chromosome 21q22.12 belongs to the 'runt domain' gene family of transcription factors (also known as AML/CBFA/PEBP2alpha). RUNX1 is a…”
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Bone regeneration with glass ceramic implants and calcium phosphate cements in a rabbit cranial defect model by Schneider, Gerlind, Blechschmidt, Karin, Linde, Dirk, Litschko, Peter, Körbs, Thomas, Beleites, Eggert

“…Hydroxyapatite cement (BoneSource®) and brushite calcium phosphate cement (chronOS™ Inject) were tested for fixation of glass ceramic implants (Bioverit®) in…”
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Distribution of GABA-like immunoreactive neurons in the optic lobes of Periplaneta americana by F ller, Horst, Eckert, Manfred, Blechschmidt, Karin

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The mouse Aire gene: comparative genomic sequencing, gene organization, and expression by Blechschmidt, K, Schweiger, M, Wertz, K, Poulson, R, Christensen, H M, Rosenthal, A, Lehrach, H, Yaspo, M L

“…Mutations in the human AIRE gene (hAIRE) result in the development of an autoimmune disease named APECED (autoimmune polyendocrinopathy candidiasis ectodermal…”
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Validation of mRNA/EST-based gene predictions in human Xp11.4 revealed differences to the organization of the orthologous mouse locus by Wen, Gaiping, Ramser, Juliane, Taudien, Stefan, Gausmann, Ulrike, Blechschmidt, Karin, Frankish, Adam, Ashurst, Jennifer, Meindl, Alfons, Platzer, Matthias

“…Careful manual annotation of the human reference sequence provides a solid basis for the identification of disease-associated genes. Toward this end, we…”
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Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries by Chandler, David, Angelicheva, Dora, Heather, Lisa, Gooding, Rebecca, Gresham, David, Yanakiev, Peter, de Jonge, Roos, Baas, Frank, Dye, Danielle, Karagyozov, Luchezar, Savov, Alexei, Blechschmidt, Karin, Keats, Bronya, Thomas, P.K., King, Rosalind H.M., Starr, Arnold, Nikolova, Amelia, Colomer, Jaume, Ishpekova, Boryana, Tournev, Ivailo, Andoni Urtizberea, Jon, Merlini, Luciano, Butinar, Dusan, Chabrol, Brigitte, Voit, Thomas, Baethmann, Martina, Nedkova, Vania, Corches, Axinia, Kalaydjieva, Luba

“…Hereditary motor and sensory neuropathy type Lom, initially identified in Roma (Gypsy) families from Bulgaria, has been mapped to 8q24. Further refined mapping…”
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A hitherto unknown hybridization between Chilean and South Polar skua by REINHARDT, K, BLECHSCHMIDT, K, PETER, H.-U, MONTALTI, D

“…Three skua specimens with a colouration pattern of the Chilean skua (Catharacta skua) were observed at Potter Peninsula, King George Island, Antarctica. Two of…”
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