M. Mikkelsen

发表

Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.

D. J. Driscoll, S. Antonarakis, G. Stetten, 1989, Genomics.

Risks of leukaemia and solid tumours in individuals with Down's syndrome

H. Hasle, M. Mikkelsen, Henrik Hasle, 2000, The Lancet.

Identification of G-group chromosomes by fluorescence staining

E. Niebuhr, M. Mikkelsen, 1971 .

Localization to Xq22 and clinical update of a family with X-linked recessive mental retardation with progression sensorineural deafness, progressive tapeto-retinal degeneration and dystonia

R. Stevenson, C. Schwartz, S. Mellgren, 1994 .

Non-disjunction of chromosome 21 in maternal meiosis I: evidence for a maternal age-dependent mechanism involving reduced recombination.

T. Hassold, M. Petersen, M. Mikkelsen, 1994, Human molecular genetics.

Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

F. Cremers, H. Ropers, P. Pearson, 1988, American journal of human genetics.

Sex-Linked Mental Retardation

M. Mikkelsen, 1987 .

Marker X chromosome induction in fibroblasts by FUdR.

M. Mikkelsen, N. Tommerup, K. B. Nielssen, 1981, American journal of medical genetics.

GALACTOSAEMIA LOCUS AND THE DOWN'S SYNDROME CHROMOSOME.

M. Mikkelsen, A. Fro̸land, N. Brandt, 1963, Lancet.

[Fluorescence microscopic and cytologic examination in Down's syndrome].

M. Mikkelsen, 1971, Nordisk medicin.

Apolipoprotein E alleles in mothers of trisomy 18 conceptuses

C. Hansen, M. Petersen, M. Mikkelsen, 1998, Clinical genetics.

MEASUREMENT OF COPPER IN CHORIONIC VILLI FOR FIRST-TRIMESTER DIAGNOSIS OF MENKES' DISEASE

M. Mikkelsen, E. Damsgaard, J. Boué, 1985, The Lancet.

The selective miscarriage of Down's syndrome from 10 weeks of pregnancy

G. B. Petersen, C. Lundsteen, N. Wald, 1996, British journal of obstetrics and gynaecology.

Obstetrical and gynecological complications in fragile X carriers: a multicenter study.

R. Stevenson, C. Schwartz, R. Hagerman, 1994, American journal of medical genetics.

Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: detection of a break in the centromeric α-satellite sequences

Z. Tümer, M. Mikkelsen, A. Berg, 1995, Human Genetics.

Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.

S. Antonarakis, N. Michelsen, L. Tranebjaerg, 2005, American journal of medical genetics. Supplement.

Down syndrome: cytogenetical epidemiology.

M. Mikkelsen, 2009, Hereditas.

Trisomy 9p in a patient with a de novo 9/15 translocation

M. Mikkelsen, P. Jacobsen, N. Hobolth, 1975, Clinical genetics.

A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region

S. Antonarakis, M. Petersen, M. Mikkelsen, 1997, Human Genetics.

A CASE OF 13–15 TRISOMY OR BARTHOLIN‐PATAU'S SYNDROME

M. Warburg, M. Mikkelsen, 1963, Acta ophthalmologica.

X-Linked mental retardation with fragile X. a pedigree showing transmission by apparently unaffected males and partial expression in female carriers

N. Tommerup, M. Mikkelsen, K. B. Nielsen, 1981, Human Genetics.

The impact of prenatal diagnosis on the incidence of Down syndrome in Denmark.

M. Mikkelsen, 1992, Birth defects original article series.

X-CHROMOSOME-SPECIFIC PROBE DX13 FOR CARRIER DETECTION AND FIRST TRIMESTER PRENATAL DIAGNOSIS IN HAEMOPHILIA A

K. Davies, R. Winter, M. Mikkelsen, 1984, The Lancet.

Linkage studies of X-linked mental retardation: High frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome)

N. Tommerup, R. White, M. Mattei, 2004, Human Genetics.

Paternal age effect in Down's syndrome

M. Mikkelsen, J. Stene, E. Petersen, 1977, Annals of human genetics.

Possible localization of Gc-System on chromosome 4. Loss of long arm 4 material associated with father-child incompatibility within the Gc-System.

M. Mikkelsen, K. Henningsen, P. Jacobsen, 1977, Human heredity.

Fluorescence and Autoradiographic Studies in Patients with Turner's Syndrome and 46,XXp— and 46,XXq— Karyotypes

M. Mikkelsen, K. Boczkowski, 1973, Journal of medical genetics.

Susceptible chiasmate configurations of chromosome 21 predispose to non–disjunction in both maternal meiosis I and meiosis II

Neil E. Lamb, Stephanie L. Sherman, Lisa Taft, 1996, Nature Genetics.

Seasonal variation in the birth of children with aneuploid chromosome abnormalities

G. B. Petersen, J. Philip, N. Skakkebæk, 1973, Humangenetik.

Seasonal variation in the birth of children with aneuploid chromosome abnormalities. Report from the Danish Cytogenetic Central Register.

G. B. Petersen, J. Philip, N. Skakkebæk, 1973 .

Down's syndrome

M. Mikkelsen, 2004, Humangenetik.

Transmission of a 13–15/21 translocation in six families

M. Mikkelsen, 1966, Annals of human genetics.

Down's syndrome at young maternal age: cytogenetical and genealogical study of eighty‐one families

M. Mikkelsen, 1967 .

TRANSLOCATION IN THE 13-15 GROUP AS A CAUSE OF PARTIAL TRISOMY AND SPONTANEOUS ABORTION IN THE SAME FAMILY.

M. Mikkelsen, P. Jacobsen, A. Dupont, 1963, Lancet.

Familial Down's syndrome A cytogenetical and genealogical study of twenty‐two families

M. Mikkelsen, 1966, Annals of human genetics.

A CASE OF LIVEBORN TRIPLOIDY (69, XXX)

E. Niebuhr, M. Mikkelsen, K. Henningsen, 1972, Acta paediatrica Scandinavica.

(6;15) Translocation with loss of chromosome material in the patient and various chromosome aberrations in family members

M. Mikkelsen, H. Dyggve, 1973, Humangenetik.

Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: A possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly

N. Tommerup, R. Wegner, D. Schindler, 1993, Human Genetics.

Quantification of human seminiferous epithelium. II. Histological studies in eight 47,XYY men.

N. Skakkebaek, M. Mikkelsen, M. Hultén, 1973, Journal of reproduction and fertility.

Studies on spermatogenesis, meiotic chromosomes, and sperm morphology in two males with a 47,XYY chromosome complement.

N. Skakkebaek, J. Philip, M. Mikkelsen, 1970, Fertility and sterility.

The 11q;22q translocation: A European collaborative analysis of 43 cases

C. E. Ford, G. Gimelli, A. Hagemeijer, 2004, Human Genetics.

Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21.

E. Feingold, T. Hassold, G. Karadima, 1997, Human molecular genetics.

Down's syndrome

M. Mikkelsen, 2004, Humangenetik.

Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother

M. Mikkelsen, P. Jacobsen, N. Hobolth, 1974, Journal of medical genetics.

The European collaborative study on mosaicism in chorionic villus sampling: Data from 1986 to 1987

M. Mikkelsen, L. Vejerslev, 1989, Prenatal diagnosis.

Elucidating the mechanisms of paternal non-disjunction of chromosome 21 in humans.

M Mikkelsen, T. Hassold, G. Karadima, 1998, Human molecular genetics.

3 Chromosome analysis on chorionic villi

M. Mikkelsen, 1987 .

Nucleolus organizer regions in translocations involving acrocentric chromosomes.

M. Mikkelsen, H. Poulsen, A. Basli, 1980, Cytogenetics and cell genetics.

Inhibition of the development of Q-bands on human chromosomes by netropsin

M. Mikkelsen, J. Schlammadinger, H. Poulsen, 1977, Human Genetics.

Non-disjunction of chromosome 18.

N. Morton, M. Bak, K. Brøndum‐Nielsen, 1998, Human molecular genetics.

Carrier detection and X-inactivation studies in the fragile X syndrome

N. Tommerup, M. Mikkelsen, K. B. Nielsen, 1983, Human Genetics.

Early prenatal diagnosis of the fragile site AT Xq27.3 associated with Martin‐Bell syndrome

K. Davies, N. Tommerup, U. Froster-Iskenius, 1991, Prenatal diagnosis.

Martin-Bell syndrome fra(X) (q28) in a Sri Lankan family.

M. Mikkelsen, P. Soysa, H. Poulsen, 2008, Journal of mental deficiency research.

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.

S. Antonarakis, L. Tranebjaerg, M. Petersen, 1991, American journal of human genetics.

Paternal nondisjunction in trisomy 21: excess of male patients.

S. Antonarakis, T. Hassold, M. Petersen, 1993, Human molecular genetics.

An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study.

J. Philip, M. Mikkelsen, K. Henningsen, 1973, Human heredity.

Familial transmission of a translocation between two non‐homologous large acrocentric chromosomes. Clinical, cytogenetic and autoradiographic studies

M. Mikkelsen, P. Jacobsen, A. Dupont, 1966, Annals of human genetics.

New aspects of a well-known syndrome (Down syndrome—Mongolism)

M. Mikkelsen, 1981, European Journal of Pediatrics.

Section 2: Chromosome disease

A. Robinson, A. de la Chapelle, J. Hamerton, 1981 .

Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome.

G. Karadima, D. Vassilopoulos, M. Petersen, 2000, American journal of medical genetics.

Non‐disjunction in trisomy 21: study of chromosomal heteromorphisms in 110 families

M. Mikkelsen, H. Poulsen, HANNE POULSEN, 1980, Annals of human genetics.

Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21.

S. Antonarakis, E. Schwinger, M. Petersen, 1992, Genomics.

Risk for chromosome abnormality at amniocentesis following a child with a non‐inherited chromosome aberration a european collaborative study on prenatal diagnoses 1981

M. Mikkelsen, J. Stene, E. Stene, 1984, Prenatal diagnosis.

Parental origin of the extra chromosome in Down's Syndrome.

M. Mikkelsen, 1982, Journal of mental deficiency research.

[A case of live born triploidy].

E. Niebuhr, M. Mikkelsen, K. Henningsen, 1971, Nordisk medicin.

Partial Deletion of the Short Arms of a Chromosome of the 4-5 Group (Denver)

M. Mikkelsen, H. Dyggve, 1965, Archives of disease in childhood.

Prenatal diagnosis of trisomy 20 mosaicism indicating esophageal and rectal origin

M. Mikkelsen, N. K. Jensen, L. Vejerslev, 1985, Clinical genetics.

Advanced grandmaternal age on the mother's side – a risk of giving rise to trisomy 21

L. Aagesen, M. Mikkelsen, J. Grinsted, 1984, Annals of human genetics.

"Compensatory" uniparental disomy of chromosome 21 in two cases.

S. Antonarakis, E. Schwinger, M. Petersen, 1994, Journal of medical genetics.

Chromosomal Findings in Chorionic Villi: A Collaborative Study

S. Aymé, M. Mikkelsen, 1987 .

Cytogenetic Findings in First Trimester Chorionic Villi Biopsies: A Collaborative Study

M. Mikkelsen, 1985 .

Multiple recurrence of trisomy 21 Down syndrome

M. Mikkelsen, K. Nielsen, H. Poulsen, 2004, Human Genetics.

Nondisjunction in trisomy 21: Origin and mechanisms

M. Petersen, M. Mikkelsen, 2001, Cytogenetic and Genome Research.

ARENTAL ORIGIN OF THE EXTRA CHROMOSOME IN DOWN'S SYNDROME

M. Mikkelsen, 2008 .

The origin of the extra chromosome 21 in Down syndrome. Studies of fluorescent variants and satelite association in 26 informative families.

M. Mikkelsen, A. Hansson, 1978, Cytogenetics and cell genetics.

Incidence, survival, and mortality in Down syndrome in Denmark.

M. Mikkelsen, K. Nielsen, H. Poulsen, 2005, American journal of medical genetics. Supplement.

Report of sex chromosome abnormalities in mentally retarded male offenders including a psychological study of patients with XYY and XXYY karyotypes.

M. Mikkelsen, A. Theilgaard, P. Jacobsen, 2008, Journal of mental deficiency research.

Incidence study of Down's syndrome in Copenhagen, 1960–1971: with chromosome investigation

M. Mikkelsen, E. Petersens, J. Stene, 1976, Annals of human genetics.

Sex chromosome abnormalities in mentally retarded criminals

M. Mikkelsen, I. Erling, 1971, Zeitschrift für Rechtsmedizin.

Chromosome 18 abnormalities in a family with a translocation t(18p--, 21p+).

M. Mikkelsen, P. Jacobsen, 2008, Journal of mental deficiency research.

Extra-hepatic storage of copper: a male foetus suspected of Menkes' disease.

M. Mikkelsen, E. Damsgaard, N. Horn, 1975, Humangenetik.

Segregation analysis of balanced pericentric inversions in pedigree data

N. Morton, J. Lindsten, M. Petersen, 1986, Clinical genetics.

Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.

F. Vogel, M. Petersen, M. Mikkelsen, 1992, Journal of medical genetics.

The effect of maternal age on the incidence of Down's syndrome

M. Mikkelsen, J. Stene, J. Stene, 2004, Humangenetik.

A DANISH SURVEY OF PATIENTS WITH DOWN'S SYNDROME BORN TO YOUNG MOTHERS

M. Mikkelsen, 1970 .

Additional small acrocentric chromosome: two cases.

M. Mikkelsen, U. Friedrich, T. Tsuboi, 2008, Journal of mental deficiency research.

Partial deletion of the short arm of chromosome 3

M. Mikkelsen, K. Henningsen, U. Merrild, 1981, European Journal of Pediatrics.

The G syndrome. A four-generation family study.

M. Mikkelsen, J. Oster, I. Pedersen, 1976, Human heredity.

Unbalanced X-autosomal translocation with inactivation of the normal X chromosome.

M. Mikkelsen, G. Dahl, 1973, Cytogenetics and cell genetics.

Selective miscarriage of Down's syndrome fetuses in women aged 35 years and older

T. Chard, C. Lundsteen, C. Lundsteen, 1995, British journal of obstetrics and gynaecology.

Congenital adrenal hyperplasia associated with a balanced 13–18 translocation

M. Mikkelsen, F. Knudsen, M. D. Nielsen, 1980, European Journal of Pediatrics.

Investigating the Impact of the Down Syndrome Related Common MTHFR 677C>T Polymorphism in the Danish Population

M. Petersen, M. Mikkelsen, M. Grigoriadou, 2010, Disease Markers.

EPIDEMIOLOGICAL STUDY OF DOWN'S SYNDROME IN DENMARK, INCLUDING FAMILY STUDIES OF CHROMOSOMES AND DNA MARKERS

M. Petersen, J. Hansen, M. Mikkelsen, 1995 .

First trimester biopsies of chorionic villi for prenatal diagnosis: experience of two laboratories

J. Lindsten, M. Mikkelsen, L. Marsk, 1984 .

Pericentric enversion of chromosome no. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals.

S. Halldorsson, M. Mikkelsen, A. Mcdermott, 1972, Journal of Medical Genetics.

Peri‐ and paracentric inversions in chromosome 12: Prenatal diagnosis and family study

G. Holmgren, M. Mikkelsen, H. Poulsen, 1981, Prenatal diagnosis.

Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency

M. Mikkelsen, K. Boczkowski, G. Dahl, 2004, Human Genetics.

Maple syrup urine disease: Rapid prenatal diagnosis by enzyme assay

H. Rüdiger, M. Mikkelsen, E. Passarge, 2004, Humangenetik.

Rare translocation 47,XY,t(12;21) in Down's syndrome.

M. Mikkelsen, 1974, Human heredity.

A ring chromosome (46,XY,13r) occurring in a family with a D-D translocation 13-,14-, t(13q 14q).

E. Niebuhr, M. Mikkelsen, 1969, Annales de genetique.

A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl

M. Mikkelsen, P. Jacobsen, Flemming Rosleff, 1973, Clinical genetics.

Identification of G group anomalies in Down's syndrome by quinacrine dihydrochloride fluorescence staining

M. Mikkelsen, 2004, Humangenetik.

The trisomy 8 syndrome: report of two further cases.

M. Mikkelsen, F. Rosleff, P. Jacobsen, 1974, Annales de genetique.

The impact of legal termination of pregnancy and of prenatal diagnosis on the birth prevalence of Down syndrome in Denmark

J. Hansen, M. Mikkelsen, J. Nielsen, 1983, Annals of human genetics.

48, XXXY Klinefelter syndrome and nail‐patella syndrome in the same child

M. Mikkelsen, J. Jansen, P. Jacobsen, 1976, Clinical Genetics.

A deleted B chromosome in a mosaic mother and her cri du chat progeny.

J. Philip, B. Friis‐Hansen, M. Mikkelsen, 1970, Journal of medical genetics.

Aniridia, Cataract and Gonadoblastoma in a Mentally Retarded Girl with Deletion of Chromosome 11

M. Warburg, A. Parving, M. Mikkelsen, 1978 .

The incidence of Down's syndrome and progress towards its reduction.

M. Mikkelsen, 1988, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

Chromosomal Findings in First Trimester Chorionic Villi Biopsy

M. Mikkelsen, 1988 .

Karyotype 45,XX,−21/46,XX,21q− in an infant with symptoms of G-deletion syndrome I

M. Mikkelsen, S. Vestermark, 1974, Journal of medical genetics.

Familial reciprocal translocation between a C group (12?) chromosome and a late labelling G chromosome.

N. Skakkebaek, M. Mikkelsen, M. Yssing, 1968, Acta genetica et statistica medica.

The 18p- syndrome. Report of two cases.

M. Mikkelsen, P. Jacobsen, 1968, Annales de genetique.

DNA replication analysis of six 13–15/21 translocation families

M. Mikkelsen, 1967, Annals of human genetics.

Trisomy No. 17-18. Report of two cases.

M. Mikkelsen, H. Andersen, A. Froland, 1966, Acta pathologica et microbiologica Scandinavica.

A family with a presumptive C-F translocation in five generations.

M. Mikkelsen, K. Henningsen, Å. Therkelsen, 1971, Annales de genetique.

Pericentric inversion of chromosome 13.

M. Steinarsdóttir, E. Gudmundsdottir, S. Halldorsson, 1983, Journal of medical genetics.

Maternal and paternal origin of extra chromosome in trisomy 21

M. Mikkelsen, H. Poulsen, A. Hallberg, 1976, Human Genetics.

A common mutation in the methylenetetrahydrofolate reductase gene is not a risk factor for Down syndrome in a population-based study

M. Petersen, M. Mikkelsen, M. Grigoriadou, 2000 .

Chromosomes in the Cornelia de Lange syndrome

M. Mikkelsen, B. Beck, 2004, Human Genetics.

Genetic counselling in Down's syndrome.

M. Mikkelsen, J. Stene, 1970, Human heredity.

Amniocentesis in prenatal diagnosis A controlled series of 78 cases

M. Mikkelsen, J. Weber, Ebbe Munk‐Andersen, 1977, Clinical genetics.

Presence of H-Y antigen in female patients with sex-chromosome mosaics and absence of testicular tissue.

A. Prader, O. Zuffardi, M. Fraccaro, 1983, American journal of medical genetics.

Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.

P. Jacobs, J. Mandel, A. Hanauer, 1988, American journal of medical genetics.

Apolipoprotein E allele distribution in parents of Down's syndrome children

D. Avramopoulos, D. Vassilopoulos, M. Petersen, 1996, The Lancet.

Investigation of a cluster of children with Down's syndrome born to mothers who had attended a school in Dundalk, Ireland

G. Karadima, M. Petersen, M. Mikkelsen, 2000, Occupational and environmental medicine.

Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome

F. Palau, E. Schwinger, M. Petersen, 1993, Human Genetics.

XO-XX MOSAICISM IN A PAIR OF PRESUMABLY MONOZYGOTIC TWINS WITH DIFFERENT PHENOTYPES.

M. Mikkelsen, A. Froland, J. Ellebjerg, 1963, Cytogenetics.

Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients.

N. Tommerup, M. Warburg, L. Tranebjaerg, 1988, American journal of medical genetics.

Sex ratio in Down syndrome.

E. Niebuhr, M. Mikkelsen, J. Nielsen, 1981, Annales de genetique.

[Mental retardation, macroorchidism and hereditary X-chromosome abnormality, fra(X) (q28). A new syndrome].

N. Tommerup, J. Lindholt, M. Mikkelsen, 1981, Ugeskrift for laeger.

[Down's syndrome. Mongolism, trisomy 21].

M. Warburg, E. Niebuhr, M. Mikkelsen, 1971, Ugeskrift for laeger.

A clinical and cytogenetical study of XX male.

J. Philip, M. Mikkelsen, K. Boczkowski, 2009, Hereditas.

Clinical and cytogenetic studies in a large (4;8) translocation family with pre- and postnatal Wolf syndrome.

H. Rehder, L. Tranebjaerg, M. Mikkelsen, 1984, Annales de genetique.

B-F chromosome translocation associated with father-child incompatibility within the Gc-system.

M. Mikkelsen, K. Henningsen, P. Jacobsen, 1969, Human Heredity.

Second trimester prenatal diagnosis of the fragile X.

F. Mitelman, N. Tommerup, B. Gustavii, 1986, American journal of medical genetics.

Trisomy 21: association between reduced recombination and nondisjunction.

P. Jacobs, T. Hassold, M. Mikkelsen, 1991, American journal of human genetics.

Turner syndrome with rare karyotypes

M. Mikkelsen, H. Poulsen, Krzysztof Boczkowsk, 1978, Clinical genetics.

Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome.

M. B. Peterson, A. Chakravarti, S. Antonarakis, 1992, American journal of human genetics.

Familial inversion translocation (8;13) with partial trisomy 13 in several family members

M. Mikkelsen, E. Jorgensen, E. Mortensen, 1983, European Journal of Pediatrics.

Genetic risk factors in human trisomy 21.

M. Mikkelsen, N. Tommerup, H. Poulsen, 1989, Progress in clinical and biological research.

[Incidence of cancer in individuals with Down syndrome].

H. Hasle, M. Mikkelsen, I. Clemmensen, 2000, Tidsskrift for Den Norske Laegeforening.

Cytogenetic studies in sideroblastic anemia

M. Mikkelsen, M. K. Jensen, 1976, Cancer.

Translocation (13q21q)

M. Mikkelsen, A. Hansson, P. Jacobsen, 1975, Humangenetik.

Seasonal variation in the birth of children with aneuploid chromosome abnormalities

J. Philip, E. Niebuhr, M. Mikkelsen, 1973, Humangenetik.