E. Niebuhr

发表

Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate

M. Bisgaard, K. Fenger, S. Bülow, 1994, Human mutation.

High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization.

Huanming Yang, D. Pinkel, D. Albertson, 2005, American journal of human genetics.

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

N. Tommerup, H. Ropers, E. Niebuhr, 2007, Human Genetics.

Down's syndrome

E. Niebuhr, Erik Niebuhr, 1974, Humangenetik.

A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth.

S. Kreiborg, H. Eiberg, E. Niebuhr, 2007, European journal of oral sciences.

Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man

Kim R. Rasmussen, C. Lundsteen, N. Tommerup, 2000, Journal of medical genetics.

Sister chromatid exchange in response to variations in occupational lead exposure.

P. Grandjean, E. Niebuhr, H. Wulf, 1983, Environmental research.

Identification of G-group chromosomes by fluorescence staining

E. Niebuhr, M. Mikkelsen, 1971 .

The cri du chat syndrome

E. Niebuhr, 1978, Human Genetics.

Very low sister-chromatid exchange rate in Seventh-Day Adventists.

E. Niebuhr, B. Husum, A. Iversen, 1986, Mutation research.

BRCA1 andBRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age

J. Olsen, Å. Borg, J. Bergthórsson, 2001, Journal of medical genetics.

Sister chromatid exchange frequency correlates with age, sex and cigarette smoking in a 5-year material of 553 healthy adults.

E. Niebuhr, B. Husum, H. Wulf, 2008, Hereditas.

Anthropometry in the Cri du Chat syndrome

E. Niebuhr, 1979, Clinical genetics.

Cessation of smoking enhances sister chromatid exchanges in lymphocytes.

E. Niebuhr, B. Husum, H. Wulf, 2008, Hereditas.

A deletion panel of the long arm of the X chromosome: subregional localization of 22 DNA probes

E. Niebuhr, M. Schwartz, S. Norby, 1990, Human Genetics.

Familial occurrence of Hirschsprung's disease

K. Fenger, E. Niebuhr, C. Russell, 1994, Clinical genetics.

An epidemiological study of Hirschsprung's disease and additional anomalies

E. Niebuhr, Michael Bjørn Russell, Charlotte Astrid Russell, 1994, Acta paediatrica.

Novel Mutation of the Initiation Codon of PAX9 Causes Oligodontia

M. Klein, S. Kreiborg, E. Niebuhr, 2005, Journal of dental research.

Coexistent pseudohypoparathyroidism and D brachydactyly in a family

E. Niebuhr, N. Graudal, L. Nielsen, 1986, Clinical genetics.

Exclusion mapping of 12 X‐linked disease loci and 10 DNA probes from the long arm of the X‐chromosome

E. Niebuhr, M. Schwartz, S. Norby, 1990, Clinical genetics.

Sister-chromatid exchange in childhood in relation to age and sex.

E. Niebuhr, N. Kousgaard, H. Wulf, 1986, Mutation research.

Different sister chromatid exchange rates in XX and XY cells of a pair of human chimeric twins.

E. Niebuhr, H. Wulf, 1985, Cytogenetics and cell genetics.

Linkage between the loci for cystic fibrosis and paraoxonase

L. Tsui, W. Warwick, H. Eiberg, 1986, Clinical genetics.

Lymphocyte function and chromosome aberrations in patients with early mycosis fungoides and parapsoriasis en plaques.

H. Wulf, E. Niebuhr, K. Thomsen, 1983, The Journal of investigative dermatology.

Sister Chromatid Exchanges and Structural Chromosome Aberrations in Lymphocytes in Operating Room Personnel

E. Niebuhr, B. Husum, H. Wulf, 1983, Acta anaesthesiologica Scandinavica.

A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child.

C. Lundsteen, E. Niebuhr, A. Tabor, 1981, Journal of medical genetics.

Studies of the cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition.

E. Niebuhr, I. Kjaer, I. Kjær, 1999, American journal of medical genetics.

Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.

D. Church, K. Nielsen, J. Wasmuth, 1995, American journal of human genetics.

Cytogenetic studies in seven individuals with an i(Xq) karyotype.

E. Niebuhr, F. Skovby, 2009, Hereditas.

The nevoid basal cell carcinoma syndrome: sensitivity to ultraviolet and x-ray irradiation.

E. Niebuhr, G. Frentz, B. Munch‐Petersen, 1987, Journal of the American Academy of Dermatology.

Triploidy in man

E. Niebuhr, 1974, Humangenetik.

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 .

Sister chromatid exchange (SCE) in Greenlandic Eskimos. Dose-response relationship between SCE and seal diet, smoking, and blood cadmium and mercury concentrations.

E. Niebuhr, J. Hansen, N. Kousgaard, 1986, The Science of the total environment.

Guidelines for the statistical evaluation of SCE.

E. Niebuhr, B. Husum, H. Wulf, 1984, Basic life sciences.

Sister chromatid exchanges in smokers of high-tar cigarettes, low-tar cigarettes, cheroots and pipe tobacco.

E. Niebuhr, B. Husum, H. Wulf, 2008, Hereditas.

A CASE OF LIVEBORN TRIPLOIDY (69, XXX)

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

Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).

E. Niebuhr, S. Krøyer, 1975, Annales de genetique.

A familial translocation t(6q+;8q-) identified by fluorescence microscopy

E. Niebuhr, 1973, Humangenetik.

Sister chromatid exchanges in cigarette smokers: effects of halothane, isoflurane or subarachnoid blockade.

E. Niebuhr, B. Husum, N. Valentin, 1985, British journal of anaesthesia.

Sister chromatid exchanges in lymphocytes of humans anaesthetized with isoflurane.

E. Niebuhr, B. Husum, N. Valentin, 1984, British journal of anaesthesia.

A complex four-break rearrangement between chromosomes 4 and 13 resulting in a recombinant chromosome 4.

C. Lundsteen, E. Niebuhr, O. Andersen, 1981, Cytogenetics and cell genetics.

Choroideremia: further evidence for assignment of the locus to Xq13–Xq21

C. Lundsteen, E. Niebuhr, M. Schwartz, 1986, Human Genetics.

[A case of live born triploidy].

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

Determination of the ‘critical region’ for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR

Huanming Yang, E. Niebuhr, Qingfa Wu, 2005, European Journal of Human Genetics.

Epithelial to mesenchymal transition in human breast cancer can provide a nonmalignant stroma.

M. Bissell, O. Petersen, L. Rønnov-Jessen, 2003, The American journal of pathology.

A 45,XX,5-,13-,dic+ karyotype in a case of cri-du-chat syndrome.

E. Niebuhr, 1972, Cytogenetics.

Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion.

E. Niebuhr, M. Schwartz, T. Rosenberg, 1987, Ophthalmic paediatrics and genetics.

Parental origin of chromosome 5 deletions in the cri-du-chat syndrome.

J. Wasmuth, E. Niebuhr, J. Overhauser, 1990, American journal of medical genetics.

The frequency of false-positive and false-negative results in the detection of Y-chromosomes in interphase nuclei

E. Niebuhr, J. L. Thomsen, 1986, Human Genetics.

Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia

D. Page, E. Niebuhr, M. Schwartz, 1988, Human Genetics.

Choroideremia in interstitial deletion of the X chromosome.

C. Lundsteen, T. Rosenberg, E. Niebuhr, 1986, Ophthalmic paediatrics and genetics.

Molecular cytogenetic analysis of a nontumorigenic human breast epithelial cell line that eventually turns tumorigenic: Validation of an analytical approach combining karyotyping, comparative genomic hybridization, chromosome painting, and single‐locus fluorescence in situ hybridization

L. Bolund, P. Briand, M. Madsen, 1997, Genes, chromosomes & cancer.

DXS26 (HU16) is located in Xq21.1

A. Chapelle, A. Wright, E. Sankila, 1990, Human Genetics.

Extreme variant of the short arm of chromosome 15

E. Niebuhr, A. L. Jørgensen, U. Friedrich, 1996, Human Genetics.

Dicentric and monocentric Robertsonian translocations in man

E. Niebuhr, 2004, Humangenetik.

Sister chromatid exchanges in peripheral lymphocytes after preoperative mammography.

E. Niebuhr, B. Husum, H. Wulf, 1981, Radiation research.

Sister Chromatid Exchanges in Lymphocytes after Anaesthesia with Halothane or Enflurane

E. Niebuhr, B. Husum, H. Wulf, 1981, Acta anaesthesiologica Scandinavica.

Sister-chromatid exchanges in cannabis smokers.

E. Niebuhr, B. Husum, H. Wulf, 1991, Mutation research.

[Apert's syndrome. Acrocephalosyndactylia, type I].

E. Niebuhr, S. Vestermark, 1973, Ugeskrift for laeger.

The cat cry syndrome (5p-) in adolescents and adults.

E. Niebuhr, 2010, Journal of mental deficiency research.

CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.

K Fenger, H. Eiberg, K. Fenger, 1997, Human molecular genetics.

Distribution of SCEs in lymphocytes in persons with normal, slightly increased, and heavily increased SCEs.

E. Niebuhr, A. Plesner, B. Husum, 1984, Mutation research.

Cytologic observations in 35 individuals with a 5p- karyotype

E. Niebuhr, 1978, Human Genetics.

Reexamination of a family with a t(13q14q) and a ring D(13) child.

E. Niebuhr, 1973, Annales de genetique.

Ring chromosome D (13) associated with multiple congenital malformations.

E. Niebuhr, J. Ottosen, 1973, Annales de genetique.

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.

Unusual findings by fluorescence microscopy of a t(13q14q)

E. Niebuhr, 2004, Humangenetik.

Localization of the deleted segment in the cri-du-chat syndrome

E. Niebuhr, 2004, Humangenetik.

Dyslexia and chromosome 15 heteromorphism: negative lod score in a Danish material

H. Eiberg, E. Niebuhr, J. Mohr, 1987, Clinical genetics.

On the possible localization of a gene for triosephosphate isomerase on the short arm of human chromosome 5

E. Niebuhr, F. Güttler, 1973, Humangenetik.

Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

J. Hilden, C. Lundsteen, N. Tommerup, 2006, European Journal of Human Genetics.

Presumably balanced translocations involving the same band of chromosome No. 4 found in two mentally retarded, dysmorphic individuals.

E. Niebuhr, F. Skovby, 1974, Annales de genetique.

SISTER CHROMATID EXCHANGES IN FISHERMEN EXPOSED TO LEAKING MUSTARD GAS SHELLS

E. Niebuhr, E. Darre, H. Wulf, 1985, The Lancet.

Localization of a human nucleoporin 155 gene (NUP155) to the 5p13 region and cloning of its cDNA.

L. Bolund, X. Chen, J. Korenberg, 1999, Genomics.

Normal sister-chromatid exchanges in oral contraceptive users.

E. Niebuhr, B. Husum, H. Wulf, 1982, Mutation research.

Increased sister chromatid exchange frequency in lymphocytes in healthy cigarette smokers.

E. Niebuhr, B. Husum, H. Wulf, 2008, Hereditas.

Sister chromatid exchanges in lymphocytes of dentists and chairside assistants: no indication of a mutagenic effect of exposure to waste nitrous oxide.

E. Niebuhr, B. Husum, H. Wulf, 1986, Community dentistry and oral epidemiology.

Sister-chromatid exchanges in lymphocytes in women with cancer of the breast.

E. Niebuhr, B. Husum, H. Wulf, 1981, Mutation research.

Sex ratio in Down syndrome.

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

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

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

Interstitial deletion in the “critical region” of the long arm of the X chromosome in a mentally retarded boy and his normal mother

C. Lundsteen, E. Niebuhr, A. Tabor, 2004, Human Genetics.

Sister chromatid exchanges in human lymphocytes after anaesthesia with fluroxene.

E. Niebuhr, B. Husum, H. Wulf, 1982, British journal of anaesthesia.

Normal sister chromatid exchange in lymphocytes from patients with multiple epidermal cancer?

E. Niebuhr, G. Frentz, B. Munch‐Petersen, 2004, Archives of Dermatological Research.

Cystic fibrosis; hint of linkage with F13B

H. Eiberg, E. Niebuhr, J. Mohr, 1985, Clinical Genetics.

Discriminant analysis of dermatoglyphic sole and palm patterns in Danish cri du chat probands and normal controls.

K. Fenger, E. Niebuhr, 2008, Journal of mental deficiency research.

X long-arm deletions. A review of non-mosaic cases studied with banding techniques

E. Niebuhr, H. Westh, L. Skibsted, 2004, Human Genetics.

Familial Adenomatous Po 1: Frequency, PenePrance, and

K. Fenger, E. Niebuhr, E. Solomon, 2005 .

Seasonal variation in the birth of children with aneuploid chromosome abnormalities

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

SCE in lymphocytes of patients treated with single, large doses of diazepam.

E. Niebuhr, B. Husum, H. Wulf, 1985, Mutation research.

Genomic organization, transcript variants and comparative analysis of the human nucleoporin 155 (NUP155) gene.

Huanming Yang, Jian Wang, L. Bolund, 2002, Gene.

rearrangements: a resource for large scale genotype-phenotype delineation in man

C. Lundsteen, N. Tommerup, E. Niebuhr, 2022 .