Search Results - "Jenderny, J"

FXIII deficiency due to base exchange Thr 449 (ACT) --> Ile (ATT) in exon 11 of the factor 13A gene. A cause of bleeding? by Maak, B, Kochhan, L, Heuchel, P, Jenderny, J

“…A 17-year old man was sent to us for coagulation testing because he suffered from acute bleeding which started immediately after making an incision in the skin…”
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Severe prekallikrein deficiency due to a compound heterozygosis in the KLKB1-gene by Maak, Bernhard, Kochhan, L, Heuchel, P, Jenderny, J

“…A 14 year old boy was referred to us for a detailed coagulation study because a previously performed aPTT has been found prolonged. The boy had no history of…”
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Sperm chromosome analysis of two males heterozygous for a t(2;17)(q35;p13) and t(3;8)(p13;p21) reciprocal translocation by JENDERNY, J

“…Sperm chromosome complements from two males, one heterozygous for the reciprocal translocation t(2;17)(q35;p13) (n = 18) and one for t(3;8) (p13;p21) (n = 73),…”
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Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient by Caliebe, A., Waltz, S., Jenderny, J.

“…We present clinical and developmental data on a patient with a de novo terminal deletion of the long arm of chromosome 4. Cytogenetic studies after G‐banding…”
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Presence of the AZF region in a female with an idic(Y)(q11) by Jenderny, J., Schmidt, W., Held, KR

“…In a child with some features of Turner's syndrome, gonosomal mosaicism with an isodicentric nonfluorescent (idic)Y chromosome was detected (mos…”
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Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX, + r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype by Jenderny, J, Caliebe, A, Beyer, C, Grote, W

“…A 6 month old patient is reported with a ring chromosome 18 confirmed by cytogenetic studies and in situ hybridisation. Her clinical features were similar to…”
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Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism by Meindl, A, Hosenfeld, D, Brückl, W, Schuffenhauer, S, Jenderny, J, Bacskulin, A, Oppermann, H C, Swensson, O, Bouloux, P, Meitinger, T

“…The molecular characterisation of chromosomal aberrations in Xp22.3 has established the map position of several genes with mutations resulting in diverse…”
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Chromosome analysis of human sperm. I: First results with a modified method by JENDERNY, J, RÖHRBORN, G

“…A modified technique has been developed for the visualization of the chromosomes in human sperm. The cytogenetic analysis of 129 G-banded human sperm…”
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Chromosome aberrations in 450 sperm complements from eight controls and lack of increase after chemotherapy in two patients by JENDERNY, J, JACOBI, M. L, RÜGER, A, RÖHRBORN, G

“…Four hundred fifty sperm complements from eight controls were analyzed. A conservative estimate of aneuploidy was 1.8% with a hyperhaploid rate of 0.9%…”
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Interphase cytogenetics on paraffin sections of paediatric extragonadal yolk sac tumours by JENDERNY, J, KÖSTER, E, BORCHERS, O, MEYER, A, GROTE, W, HARMS, D, JÄNIG, U

“…Germ cell tumours in children are more often extragonadal than in adults and the most frequent type is the yolk sac tumour. Limited cytogenetic data exist on…”
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Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 20 by Jenderny, J, Gebauer, J, Röhrborn, G, Rüger, A

“…The sperm chromosomes of a man heterozygous for inv(20)(p13q11.2) were analyzed. Twenty-six sperm chromosome complements were examined, of which fourteen…”
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The genetic basis of non-disjunction: increased incidence of hyperploidy in oocytes from F1 hybrid mice by HANSMANN, I, JENDERNY, J

“…Oocytes from parental mice strains NMRI/Han, C57/bl and Balb/c and from F1 hybrid lines were analysed for aneuploidy due to non-disjunction after…”
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Nondisjunction and chromosome breakage in mouse oocytes after various x-ray doses by Hansmann, I, Jenderny, J, Probeck, H D

“…The effect of varying X-ray doses (0.05-0.80 Gy) on preovulatory mouse oocytes was studied by measuring nondisjunction during the first meiotic division, as…”
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Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF–PCR in 662 selected pregnancies at risk by Schmidt, Winfried, Jenderny, Jutta, Hecher, Kurt, Hackelöer, B.-Joachim, Kerber, Susanne, Kochhan, Lothar, Held, Karsten R.

“…A quantitative fluorescent–polymerase chain reaction (QF–PCR) test system with different short tandem repeat (STR) markers of the X chromosome (SBMA, DXS8377…”
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Aneuploidy in mouse fetuses after paternal exposure to X rays by PROBECK, H. D, HANSMANN, I, JENDERNY, J, SCHÄFER, J, ZMARSLY, R

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Control of meiosis by somatic cells in mice: inheritance of the meiosis I error 'diploidy' and nonexpression in sensitive NMRI/Han oocytes ovulated from chimeras by Bartels, I, Jenderny, J, Hansmann, I

“…NMRI mouse and Djungarian hamster females ovulate diploid and/or hyperploid oocytes with increased frequencies after gonadotrophin stimulation, suggesting that…”
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Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies? by Jenderny, J, Poetsch, M, Hoeltzenbein, M, Friedrich, U, Jauch, A

“…We describe the first inverted duplication of the p21.3p26 region of chromosome 3 in a child with phenotypic features of the trisomy 3p syndrome. This uncommon…”
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Low doses of X-rays decrease the risk of diploidy in mouse oocytes by Hansmann, I, Jenderny, J, Probeck, H D

“…Females from the NMRI/Han mouse strain ovulate a high number of diploid oocytes (about 12%) after gonadotrophin-stimulated ovulation. These oocytes can be…”
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Increased nuchal translucency, hydrops fetalis or hygroma colli. A new test strategy for early fetal aneuploidy detection by Jenderny, J, Schmidt, W, Hecher, K, Hackelöer, B J, Kerber, S, Kochhan, L, Held, K R

“…Nuchal translucency measurement of 3 mm or more (> or = 95th centile for gestation age), hydrops fetalis or hygroma colli between the 11th and 14th weeks of…”
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Detection of chromosome aberrations in paraffin sections of seven gonadal yolk sac tumors of childhood by JENDERNY, J, KÖSTER, E, MEYER, A, BORCHERS, O, GROTE, W, HARMS, D, JÄNIG, U

“…Yolk sac tumors are the most frequent kind of malignant pediatric germ cell tumor and may have a fundamentally different pathogenesis than adult germ cell…”
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