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Results: 1-13 |
Results: 13
Defining the breakpoints of proximal chromosome 14q rearrangements in ninepatients using flow-sorted chromosomes
Authors: Kamnasaran, D O'Brien, PCM Schuffenhauer, S Quarrell, O Lupski, JR Grammatico, P Ferguson-Smith, MA Cox, DW
Citation: D. Kamnasaran et al., Defining the breakpoints of proximal chromosome 14q rearrangements in ninepatients using flow-sorted chromosomes, AM J MED G, 102(2), 2001, pp. 173-182
GATA3 haplo-insufficiency causes human HDR syndrome
Authors: Van Esch, H Groenen, P Nesbit, MA Schuffenhauer, S Lichtner, P Vanderlinden, G Harding, B Beetz, R Bilous, RW Holdaway, I Shaw, NJ Fryns, JP Van de Ven, WV Thakker, RV Devriendt, K
Citation: H. Van Esch et al., GATA3 haplo-insufficiency causes human HDR syndrome, NATURE, 406(6794), 2000, pp. 419-422
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications
Authors: Kotzot, D Martinez, MJ Bagci, G Basaran, S Baumer, A Binkert, F Brecevic, L Castellan, C Chrzanowska, K Dutly, F Gutkowska, A Karauzum, SB Krajewska-Walasek, M Luleci, G Miny, P Riegel, M Schuffenhauer, S Seidel, H Schinzel, A
Citation: D. Kotzot et al., Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications, J MED GENET, 37(4), 2000, pp. 281-286
Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito andasymmetry
Authors: Schmidt, H Uhrig, S Lederer, G Murken, J Speicher, MR Schuffenhauer, S
Citation: H. Schmidt et al., Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito andasymmetry, J MED GENET, 37(10), 2000, pp. 804-806
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus mapsdistal to the DiGeorge syndrome region on 10p13/14
Authors: Lichtner, P Konig, R Hasegawa, T Van Esch, H Meitinger, T Schuffenhauer, S
Citation: P. Lichtner et al., An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus mapsdistal to the DiGeorge syndrome region on 10p13/14, J MED GENET, 37(1), 2000, pp. 33-37
Somatic segregation errors predominantly contribute to the gain or loss ofa paternal chromosome leading to uniparental disomy for chromosome 15
Authors: Robinson, WP Christian, SL Kuchinka, BD Penaherrera, S Das, S Schuffenhauer, S Malcolm, S Schinzel, AA Hassold, TJ Ledbetter, DH
Citation: Wp. Robinson et al., Somatic segregation errors predominantly contribute to the gain or loss ofa paternal chromosome leading to uniparental disomy for chromosome 15, CLIN GENET, 57(5), 2000, pp. 349-358
Genotype-phenotype analysis in Apert syndrome suggests opposite effects ofthe two recurrent mutations on syndactyly and outcome of craniofacial surgery
Authors: von Gernet, S Golla, A Ehrenfels, Y Schuffenhauer, S Fairley, JD
Citation: S. Von Gernet et al., Genotype-phenotype analysis in Apert syndrome suggests opposite effects ofthe two recurrent mutations on syndactyly and outcome of craniofacial surgery, CLIN GENET, 57(2), 2000, pp. 137-139
An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH
Authors: Azofeifa, J Fauth, C Kraus, J Maierhofer, C Langer, S Bolzer, A Reichman, J Schuffenhauer, S Speicher, MR
Citation: J. Azofeifa et al., An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH, AM J HU GEN, 66(5), 2000, pp. 1684-1688
No evidence for chromosomal microdeletions at the second DiGeorge syndromelocus on 10p near D10S585
Authors: Bartsch, O Wagner, A Hinkel, GK Lichtner, P Murken, J Schuffenhauer, S
Citation: O. Bartsch et al., No evidence for chromosomal microdeletions at the second DiGeorge syndromelocus on 10p near D10S585, AM J MED G, 83(5), 1999, pp. 425-426
De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings
Authors: Schuffenhauer, S Leifheit, HJ Lichtner, P Peters, H Murken, J Emmerich, P
Citation: S. Schuffenhauer et al., De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings, J MED GENET, 36(3), 1999, pp. 233-236
Primary hypogonadism with chromosome constellation of true hermaphroditismand XX maleness
Authors: Brand, S Strom, TM Weber, MM Schuffenhauer, S Murken, J Engelhardt, D
Citation: S. Brand et al., Primary hypogonadism with chromosome constellation of true hermaphroditismand XX maleness, INTERNIST, 40(4), 1999, pp. 437-441
Multiplex-FISH for pre- and postnatal diagnostic applications
Authors: Uhrig, S Schuffenhauer, S Fauth, C Wirtz, A Daumer-Haas, C Apacik, C Cohen, M Muller-Navia, J Cremer, T Murken, J Speicher, MR
Citation: S. Uhrig et al., Multiplex-FISH for pre- and postnatal diagnostic applications, AM J HU GEN, 65(2), 1999, pp. 448-462
Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), Vlc (COX6C) and Vllc (COX7C) to chromosome bands 15q25, 8q22 -> q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14 -> q21 by FISH and radiation hybrid mapping
Authors: Hofmann, S Lichtner, P Schuffenhauer, S Gerbitz, KD Meitinger, T
Citation: S. Hofmann et al., Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), Vlc (COX6C) and Vllc (COX7C) to chromosome bands 15q25, 8q22 -> q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14 -> q21 by FISH and radiation hybrid mapping, CYTOG C GEN, 83(3-4), 1998, pp. 226-227
Risultati: 1-13 |