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FXIII deficiency due to base exchange Thr 449 (ACT) --> Ile (ATT) in exon 11 of the factor 13A gene. A cause of bleeding?

Hämostaseologie, 2010-08, Vol.30 (3), p.162-164

2010

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Severe prekallikrein deficiency due to a compound heterozygosis in the KLKB1-gene

Hämostaseologie, 2009-05, Vol.29 (2), p.187-189

2009

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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

Human genetics, 1992-09, Vol.90 (1-2), p.171-173

JENDERNY, J

1992

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Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient

Clinical genetics, 1997-08, Vol.52 (2), p.116-119

1997

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Presence of the AZF region in a female with an idic(Y)(q11)

Clinical genetics, 1998-10, Vol.54 (4), p.341-344

1998

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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

Journal of medical genetics, 1993-11, Vol.30 (11), p.964-965

1993

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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

Journal of medical genetics, 1993-10, Vol.30 (10), p.838-842

1993

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Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF–PCR in 662 selected pregnancies at risk

Molecular human reproduction, 2000-09, Vol.6 (9), p.855-860

2000

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Interphase cytogenetics on paraffin sections of paediatric extragonadal yolk sac tumours

Virchows Archiv : an international journal of pathology, 1996-04, Vol.428 (1), p.53-57

1996

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Chromosome analysis of human sperm. I: First results with a modified method

Human genetics, 1987-08, Vol.76 (4), p.385-388

1987

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Chromosome aberrations in 450 sperm complements from eight controls and lack of increase after chemotherapy in two patients

Human genetics, 1992-09, Vol.90 (1-2), p.151-154

1992

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Killian-Teschler-Nicola-Syndrom

Monatsschrift Kinderheilkunde, 1992, Vol.140 (6), p.340-342

1992

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Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 20

Human genetics, 1992-04, Vol.89 (1), p.117-119

1992

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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?

European journal of human genetics : EJHG, 1998-09, Vol.6 (5), p.439-444

1998

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The genetic basis of non-disjunction: increased incidence of hyperploidy in oocytes from F1 hybrid mice

Human genetics, 1983-01, Vol.65 (1), p.56-60

1983

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Nondisjunction and chromosome breakage in mouse oocytes after various x-ray doses

Human genetics, 1982-01, Vol.61 (3), p.190-192

1982

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Increased nuchal translucency, hydrops fetalis or hygroma colli : A new test strategy for early fetal aneuploidy detection

Fetal diagnosis and therapy, 2001-07, Vol.16 (4), p.211-214

2001

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Increased Nuchal Translucency, Hydrops fetalis or Hygroma colli

Fetal diagnosis and therapy, 2001-04, Vol.16 (4), p.211-214

2001

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Detection of chromosome aberrations in paraffin sections of seven gonadal yolk sac tumors of childhood

Human genetics, 1995-12, Vol.96 (6), p.644-650

1995

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Aneuploidy in mouse fetuses after paternal exposure to X rays

Nature (London), 1979-07, Vol.280 (5719), p.228-229

1979

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Killian-Teschler-Nicola syndrome (Pallister-Killian syndrome, mosaic tetrasomy 12p)

Monatsschrift Kinderheilkunde, 1992-06, Vol.140 (6), p.340-342

1992

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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

CELL DIFFER. Vol. 15, no. 2-4. 1984, 1984-01, Vol.15 (2), p.189-194

1984

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Sperm chomosome analysis of a man heterozygous for a pericentric inversion of chromosome 20

Human genetics, 1992, Vol.89 (1), p.117-119

1992

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Remarks to the letter from R. H. Martin

Human genetics, 1988-08, Vol.79 (4)

1988

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Low doses of X-rays decrease the risk of diploidy in mouse oocytes

Mutation research, 1983-04, Vol.109 (1), p.99-110

1983

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FXIII deficiency due to base exchange Thr 449 (ACT) --> Ile (ATT) in exon 11 of the factor 13A gene. A cause of bleeding?

Severe prekallikrein deficiency due to a compound heterozygosis in the KLKB1-gene

Sperm chromosome analysis of two males heterozygous for a t(2;17)(q35;p13) and t(3;8)(p13;p21) reciprocal translocation

Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient

Presence of the AZF region in a female with an idic(Y)(q11)

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

Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism

Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF–PCR in 662 selected pregnancies at risk

Interphase cytogenetics on paraffin sections of paediatric extragonadal yolk sac tumours

Chromosome analysis of human sperm. I: First results with a modified method

Chromosome aberrations in 450 sperm complements from eight controls and lack of increase after chemotherapy in two patients

Killian-Teschler-Nicola-Syndrom

Sperm chromosome analysis of a man heterozygous for a pericentric inversion of chromosome 20

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?

The genetic basis of non-disjunction: increased incidence of hyperploidy in oocytes from F1 hybrid mice

Nondisjunction and chromosome breakage in mouse oocytes after various x-ray doses

Increased nuchal translucency, hydrops fetalis or hygroma colli : A new test strategy for early fetal aneuploidy detection

Increased Nuchal Translucency, Hydrops fetalis or Hygroma colli

Detection of chromosome aberrations in paraffin sections of seven gonadal yolk sac tumors of childhood

Aneuploidy in mouse fetuses after paternal exposure to X rays

Killian-Teschler-Nicola syndrome (Pallister-Killian syndrome, mosaic tetrasomy 12p)

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

Sperm chomosome analysis of a man heterozygous for a pericentric inversion of chromosome 20

Remarks to the letter from R. H. Martin

Low doses of X-rays decrease the risk of diploidy in mouse oocytes

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