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Results: 1-12 |
Results: 12
Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): Further delineation of trisomies 1q
Authors: Bartsch, C Aslan, M Kohler, J Miny, P Horst, J Holzgreve, W Rehder, H Fritz, B
Citation: C. Bartsch et al., Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): Further delineation of trisomies 1q, FETAL DIAGN, 16(5), 2001, pp. 265-273
A novel syndrome involving primary skeletal growth and retardation in siblings
Authors: Hadziselimovic, F Fliegel, C Miny, P
Citation: F. Hadziselimovic et al., A novel syndrome involving primary skeletal growth and retardation in siblings, CLIN DYSMOR, 10(1), 2001, pp. 33-36
Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound
Authors: Tercanli, S Miny, P Siebert, MS Hosli, I Surbek, DV Holzgreve, W
Citation: S. Tercanli et al., Fanconi anemia associated with increased nuchal translucency detected by first-trimester ultrasound, ULTRASOUN O, 17(2), 2001, pp. 160-162
Myomectomy during the first trimester associated with fetal limb anomaliesand hydrocephalus in a twin pregnancy
Authors: Danzer, E Holzgreve, W Batukan, C Miny, P Tercanli, S Hoesli, I
Citation: E. Danzer et al., Myomectomy during the first trimester associated with fetal limb anomaliesand hydrocephalus in a twin pregnancy, PRENAT DIAG, 21(10), 2001, pp. 848-851
Characterization of an immortalized human granulosa cell line (COV434)
Authors: Zhang, H Vollmer, M De Geyter, M Litzistorf, Y Ladewig, A Durrenberger, M Guggenheim, R Miny, P Holzgreve, W De Geyter, C
Citation: H. Zhang et al., Characterization of an immortalized human granulosa cell line (COV434), MOL HUM REP, 6(2), 2000, pp. 146-153
Assessing the chromosome copy number in metaphase II oocytes by sequentialfluorescence in situ hybridization
Authors: Vollmer, M Wenzel, F DeGeyter, C Zhang, H Holzgreve, W Miny, P
Citation: M. Vollmer et al., Assessing the chromosome copy number in metaphase II oocytes by sequentialfluorescence in situ hybridization, J AS REPROD, 17(10), 2000, pp. 596-602
The long-term effect of external quality assessment on performance in service cytogenetics
Authors: Held, KR Eiben, B Miny, P
Citation: Kr. Held et al., The long-term effect of external quality assessment on performance in service cytogenetics, CYTOG C GEN, 91(1-4), 2000, pp. 124-127
Assessment of prenatal karyotypes
Authors: Evans, MI Henry, GP Miller, WA Bui, TH Snijders, RJ Wapner, RJ Miny, P Johnson, MP Peakman, D Johnson, A Nicolaides, K Holzgreve, W Ebrahim, SAD Jackson, L
Citation: Mi. Evans et al., Assessment of prenatal karyotypes, HUM REPR, 15(1), 2000, pp. 229-230
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
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene
Authors: Melkoniemi, M Brunner, HG Manouvrier, S Hennekam, R Superti-Furga, A Kaariainen, H Pauli, RM van Essen, T Warman, ML Bonaventure, J Miny, P Ala-Kokko, L
Citation: M. Melkoniemi et al., Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene, AM J HU GEN, 66(2), 2000, pp. 368-377
International, collaborative assessment of 146 000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used
Authors: Evans, MI Henry, GP Miller, WA Bui, TH Snidjers, RJ Wapner, RJ Miny, P Johnson, MP Peakman, D Johnson, A Nicolaides, K Holzgreve, W Ebrahim, SAD Babu, R Jackson, L
Citation: Mi. Evans et al., International, collaborative assessment of 146 000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used, HUM REPR, 14(5), 1999, pp. 1213-1216
Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies
Authors: Meschede, D Louwen, F Nippert, I Holzgreve, W Miny, P Horst, J
Citation: D. Meschede et al., Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies, AM J MED G, 80(4), 1998, pp. 330-334
Risultati: 1-12 |