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1

Aspects of skeletal development in fragile X syndrome fetuses

Helle Hjalgrim, Birgit Fisher Hansen, Karen Brøndum-Nielsen, Dorrit Nolting, Inger Kjær

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 4.67 MB

english, 2000

2

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

Nanna D. Rendtorff, Bolette Bjerregaard, Morten Frödin, Susanne Kjaergaard, Hanne Hove, Flemming Skovby, Karen Brøndum-Nielsen, Marianne Schwartz

Journal:

Year:

2005

Language:

english

File:

PDF, 292 KB

english, 2005

3

Bardet-Biedl syndrome in Denmark—report of 13 novel sequence variations in six genes

Tina Duelund Hjortshøj, Karen Grønskov, Alisdair R. Philp, Darryl Y. Nishimura, Ruth Riise, Val C. Sheffield, Thomas Rosenberg, Karen Brøndum-Nielsen

Journal:

Year:

2010

Language:

english

File:

PDF, 262 KB

english, 2010

4

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome

Schoumans, Jacqueline, Nordgren, Ann, Ruivenkamp, Claudia, Brøndum-Nielsen, Karen, Teh, Bin Tean, Annéren, Göran, Holmberg, Eva, Nordenskjöld, Magnus, Anderlid, Britt-Marie

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 73 KB

english, 2004

5

Oculocutaneous albinism

Karen Grønskov, Jakob Ek, Karen Brondum-Nielsen

Journal:

Orphanet Journal of Rare Diseases

Year:

2007

Language:

english

File:

PDF, 666 KB

english, 2007

6

Birth Prevalence and Mutation Spectrum in Danish Patients with Autosomal Recessive Albinism

Grønskov, Karen, Ek, Jakob, Sand, Annie, Scheller, Rudolf, Bygum, Anette, Brixen, Kim, Brondum-Nielsen, Karen, Rosenberg, Thomas

Journal:

Investigative Ophthalmology & Visual Science

Year:

2009

Language:

english

File:

PDF, 100 KB

english, 2009

7

Novel mutations of the P gene in type II oculocutaneous albinism (OCA2)

Richard A. Spritz, Seung-Taek Lee, Kazuyoshi Fukai, Karen Brondum-Nielsen, David Chitayat, Mark H. Lipson, Maria A. Musarella, Ada Rosenmann, Richard G. Weleber

Journal:

Year:

1997

Language:

english

File:

PDF, 113 KB

english, 1997

8

Haplotype and AGG-interspersion analysis of FMR1 (CGG)n alleles in the Danish population: Implications for multiple mutational pathways towards fragile X alleles

Lars Allan Larsen, Judith S.M. Armstrong, Karen Grønskov, Helle Hjalgrim, James N. Macpherson, Karen Brøndum-Nielsen, Lis Hasholt, Bent Nørgaard-Pedersen, Jens Vuust

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 239 KB

english, 2000

9

Sex chromosome aneuploidy in fragile X carriers

Karen Brøndum Nielsen, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 334 KB

english, 1986

10

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

Lisbeth Tranebjaerg, Karen Brøndum Nielsen, Niels Tommerup, Mette Warburg, Margareta Mikkelsen, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 866 KB

english, 1988

11

Growth pattern in boys with fragile X

Karen Brøndum Nielsen

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 226 KB

english, 1988

12

Aicardi syndrome: Early neuroradiological manifestations and results of DNA studies in one patient

Karen Bröndum Nielsen, Maria Anvret, Olof Flodmark, Peter Furuskog, Kjersti Bohman-Valis

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 401 KB

english, 1991

13

Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13

Karen Heleneörstavik, Svein Erik Tangsrud, Ragnhild Kiil, Inger-Lise Hansteen, Jon Steen-Johnsen, Suzanne B. Cassidy, Anna Martony, Maria Anvret, Niels Tommerup, Karen Bröndum-Nielsen

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 487 KB

english, 1992

14

Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization

Dr. Elisabeth Blennow, Karen Brøndum Nielsen, Håkan Telenius, Nigel P. Carter, Ulf Kristoffersson, Eva Holmberg, Christopher Gillberg, Magnus Nordenskjöld

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 1.09 MB

english, 1995

15

Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: Estimated prevalence rate in a Danish county

Michael B. Petersen, Karen Brøndum-Nielsen, Lars Kjærsgård Hansen, Karl Wulff

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 199 KB

english, 1995

16

Brothers with Chudley–McCullough syndrome: Sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities

Elsebet Østergaard, Vibeke Faurholt Pedersen, Elisabeth B. Skriver, Karen Brøndum-Nielsen

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 112 KB

english, 2004

17

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

Anne-Marie Bisgaard, Maria Kirchhoff, Zeynep Tümer, Birgit Jepsen, Karen Brøndum-Nielsen, Monika Cohen, Bente Hamborg-Petersen, Thue Bryndorf, Niels Tommerup, Flemming Skovby

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 304 KB

english, 2006

18

Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A “new” syndrome?

Mette Warburg, Susanne Ullman, Hanne Jensen, Hans Pedersen, Takasi Kobayashi, Bjørn Russell, Lisbeth Tranebjaerg, Gabriele Richard, Karen Brøndum-Nielsen

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 161 KB

english, 2006

19

Risk for cancer in patients with Bardet-Biedl syndrome and their relatives

Tina Duelund Hjortshøj, Karen Grønskov, Thomas Rosenberg, Karen Brøndum-Nielsen, Jørgen H. Olsen

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 75 KB

english, 2007

20

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet–Biedl syndrome patients

Tina Duelund Hjortshøj, Karen Grønskov, Alisdair R. Philp, Darryl Y. Nishimura, Adebowale Adeyemo, Charles N. Rotimi, Val C. Sheffield, Thomas Rosenberg, Karen Brøndum-Nielsen

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 182 KB

english, 2008

21

A duplication encompassing the SHOX gene and the downstream evolutionarily conserved sequences

Laura Roos, Karen Brøndum Nielsen, Zeynep Tümer

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 94 KB

english, 2009

22

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

Sultan Cingöz, Iben Bache, Lise Bjerglund, Hans-Hilger Ropers, Niels Tommerup, Hanne Jensen, Karen Brøndum-Nielsen, Zeynep Tümer

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 132 KB

english, 2011

23

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

Bitten Schönewolf-Greulich, Anne Ronan, Kristine Ravn, Peter Baekgaard, Marianne Lodahl, Kate Nielsen, Nanna D. Rendtorff, Lisbeth Tranebjaerg, Karen Brøndum-Nielsen, Zeynep Tümer

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 924 KB

english, 2011

24

Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification

Anna Bremer, MaiBritt Giacobini, Magnus Nordenskjöld, Karen Brøndum-Nielsen, Mahmoud Mansouri, Niklas Dahl, BrittMarie Anderlid, Jacqueline Schoumans

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2010

Language:

english

File:

PDF, 154 KB

english, 2010

25

Chromosome painting as a supplement to cytogenetic banding analysis in non-Hodgkin's lymphoma

Svetlana Bajalica, Anne-Grethe Sørensen, Niels Tinggaard Pedersen, Sverre Heim, Karen Brøndum-Nielsen

Journal:

Genes, Chromosomes and Cancer

Year:

1993

Language:

english

File:

PDF, 760 KB

english, 1993

26

Multiple genetic events involving rbi gene deletion and amplification of chromosome 21 in a case of acute lymphocytic leukemia

Yie Liu, Mats Heyman, Dan Grandér, Stefan Einhorn, Dr. Stefan Söderhäll, Karen Bröndum-Nielsen

Journal:

Genes, Chromosomes and Cancer

Year:

1994

Language:

english

File:

PDF, 320 KB

english, 1994

27

Characterization of add(I)(p36) in non-hodgkin lymphomas by fluorescence in situ hybridization

Svetlana Bajalica, Karen Brøndum-Nielsen, Anne-Grethe Sørensen, Niels Tinggaard Pedersen, Ulf Kristoffersson, Måns Åkerman, Margareta Anderson, Pavel Pisa, Magnus Nordenskjöld

Journal:

Genes, Chromosomes and Cancer

Year:

1995

Language:

english

File:

PDF, 538 KB

english, 1995

28

Novel 4-bp insertion in exon 5 of the CuZn-superoxide dismutase (SOD1) gene associated with familial amyotrophic lateral sclerosis

Claus Hansen, Ole Gredal, Lene Werdelin, Peter M. Andersen, Stefan L. Marklund, Peter Nilsson, Michael B. Petersen, Karen Brøndum-Nielsen

Journal:

Year:

1998

Language:

english

File:

PDF, 228 KB

english, 1998

29

Deletions of the shorlt arm of chromosome 9, including the interferon - α / β genes, in acute lympocytic leukemia. Stuides on loss of heterozygosity, parental origin of deleted genes and prognosis

Mats Heyman, Dan Grai, Karen Bröndum-Nielsen, Yie Lir, Stefen Söderhäll, Stefen Einhorn

Journal:

International Journal of Cancer

Year:

1993

Language:

english

File:

PDF, 1.03 MB

english, 1993

30

DXA measurements in rett syndrome reveal small bones with low bone mass

Gitte Roende, Kirstine Ravn, Kathrine Fuglsang, Henrik Andersen, Jytte Bieber Nielsen, Karen Brøndum-Nielsen, Jens-Erik Beck Jensen

Journal:

Journal of Bone and Mineral Research

Year:

2011

Language:

english

File:

PDF, 145 KB

english, 2011

31

Severe male infertility. Impact of genetic factors on diagnosis and counselling

ØJvind Lidegaard, Anne Lis Mikkelsen, Michael Meldgaard, Karen Brøndum-Nielsen, Svend Lindenberg

Journal:

Acta Obstetricia et Gynecologica Scandinavica

Year:

1998

Language:

english

File:

PDF, 70 KB

english, 1998

32

Rieger syndrome is associated with PAX6 deletion

Ruth Riise, Kari Storhaug, Karen Brøndum-Nielsen

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2001

Language:

english

File:

PDF, 90 KB

english, 2001

33

Filter-grown TR146 cells as an in vitro model of human buccal epithelial permeability

Jette Jacobsen, Eva Bonde Nielsen, Karen Brøndum-Nielsen, Maria Elisabeth Christensen, Helle-Birgitte Dahl Olin, Niels Tommerup, Margrethe Rømer Rassing

Journal:

European Journal of Oral Sciences

Year:

1999

Language:

english

File:

PDF, 173 KB

english, 1999

34

Genomic deletions inOPA1in Danish patients with autosomal dominant optic atrophy

Gitte J Almind, Karen Grønskov, Dan Milea, Michael Larsen, Karen Brøndum-Nielsen, Jakob Ek

Journal:

BMC Medical Genetics

Year:

2011

Language:

english

File:

PDF, 249 KB

english, 2011

35

11p Microdeletion includingWT1but notPAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

Gitte J Almind, Karen Brøndum-Nielsen, Regitze Bangsgaard, Peter Baekgaard, Karen Grønskov

Journal:

Molecular Cytogenetics

Year:

2009

Language:

english

File:

PDF, 1.11 MB

english, 2009

36

Fragile X demonstrated retrospectively in amniotic cells cultured in low folate medium

Lise Bjerglund Nielsen, Karen Brøndum Nielsen, Niels Tommerup

Journal:

Prenatal Diagnosis

Year:

1983

Language:

english

File:

PDF, 185 KB

english, 1983

37

Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X-centromeric probe

Svetlana Bajalica, The-Hung Bui, Jørn Koch, Dr Karen Bröndum-Nielsen

Journal:

Prenatal Diagnosis

Year:

1992

Language:

english

File:

PDF, 276 KB

english, 1992

38

Molecular analysis of 4p deletion associated with Wolf-Hirschhorn syndrome moving the “critical segment” towards the telomere

Maria Anvret, Magnus Nordenskjöld, Lisa Stolpe, Lena Johansson, Karen Bröndum-Nielsen

Journal:

Year:

1991

Language:

english

File:

PDF, 241 KB

english, 1991

39

The fragile X mutation does not have any major effect on the expression of the hypoxanthine phosphoribosyltransferase (HPRT) locus in human fibroblasts

Ann-Marie Steen, Suzanne Marcus, Sigrid Sahlén, Karen Brøndum Nielsen, Bo Lambert

Journal:

Year:

1991

Language:

english

File:

PDF, 280 KB

english, 1991

40

Localization of the human insulin-like growth-factor-binding protein 4 gene to chromosomal region 17q12–21.1

Svetlana Bajalica, Susanne V. Allander, Ewa Ehrenborg, Karen Brøndum-Nielsen, Holger Luthman, Catharina Larsson

Journal:

Year:

1992

Language:

english

File:

PDF, 983 KB

english, 1992

41

Macroorchidism and fragile X in mentally retarded males

Karen Brøndum Nielsen, Niels Tommerup, Holger V. Dyggve, Carsten Schou

Journal:

Year:

1982

Language:

english

File:

PDF, 474 KB

english, 1982

42

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

Karen Brøndum Nielsen, Niels Tommerup, Hanne Poulsen, Margareta Mikkelsen

Journal:

Year:

1981

Language:

english

File:

PDF, 321 KB

english, 1981

43

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

Karen Brøndum Nielsen, N. Tommerup, Hanne Poulsen, Petrea Jacobsen, Bente Beck, Margareta Mikkelsen

Journal:

Year:

1983

Language:

english

File:

PDF, 619 KB

english, 1983

44

Small metacentric nonsatellited extra chromosome

Karen Brøndum Nielsen, Holger Dyggve, Ursula Friedrich, Niels Hobolth, Troels Lyngbye, Margareta Mikkelsen

Journal:

Year:

1978

Language:

english

File:

PDF, 656 KB

english, 1978

45

Cytogenetic investigations in mentally retarded and normal males from 14 families with the fragile site at Xq28

Karen Brøndum Nielsen, N. Tommerup

Journal:

Year:

1984

Language:

english

File:

PDF, 470 KB

english, 1984

46

Apparent homozygosity for the fragile site at Xq28 in a normal female

Karen Brøndum Nielsen, Niels Tommerup, Hanne Poulsen, Margareta Mikkelsen

Journal:

Year:

1982

Language:

english

File:

PDF, 1013 KB

english, 1982

47

High-throughput analysis of Fragile X (CGG)nalleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis

L. Allan Larsen, Karen Grønskov, Bent Nørgaard-Pedersen, Karen Brøndum-Nielsen, Lis Hasholt, Jens Vuust

Journal:

Year:

1997

Language:

english

File:

PDF, 80 KB

english, 1997

48

Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations

K. Grønskov, Anni Hallberg, Karen Brøndum-Nielsen

Journal:

Year:

1998

Language:

english

File:

PDF, 104 KB

english, 1998

49

Regarding the letter from Dr. Stephen T. Warren of the Emory University School of Medicine concerning our article “Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations”

Karen Grønskov, K. Brøndum-Nielsen

Journal:

Year:

1998

Language:

english

File:

PDF, 37 KB

english, 1998

50

A nonsense mutation in FMR1 causing fragile X syndrome

Grønskov, Karen, Brøndum-Nielsen, Karen, Dedic, Alma, Hjalgrim, Helle

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 215 KB

english, 2011