Brondum-Nielsen, K. : rechercher sur Z-Library

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1

Serviceability Analysis of Concrete Sections under Biaxial Bending

Brøndum-Nielsen, Troels

Journal:

Journal of Structural Engineering

Année:

1997

Langue:

english

Fichier:

PDF, 288 KB

english, 1997

2

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

Année:

2000

Langue:

english

Fichier:

PDF, 4.67 MB

english, 2000

3

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:

Année:

2005

Langue:

english

Fichier:

PDF, 292 KB

english, 2005

4

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:

Année:

2010

Langue:

english

Fichier:

PDF, 262 KB

english, 2010

5

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

Année:

2004

Langue:

english

Fichier:

PDF, 73 KB

english, 2004

6

Fertility in Prader-Willi syndrome: a case report with Angelman syndrome in the offspring

A Schulze, H Mogensen, B Hamborg-Petersen, N Græm, JR Østergaard, K Brøndum-Nielsen

Journal:

Acta Paediatrica

Année:

2001

Langue:

english

Fichier:

PDF, 251 KB

english, 2001

7

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

Gronskov, K., Poole, R. L., Hahnemann, J. M. D., Thomson, J., Tumer, Z., Brondum-Nielsen, K., Murphy, R., Ravn, K., Melchior, L., Dedic, A., Dolmer, B., Temple, I. K., Boonen, S. E., Mackay, D. J. G.

Journal:

Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 546 KB

english, 2011

8

Oculocutaneous albinism

Karen Grønskov, Jakob Ek, Karen Brondum-Nielsen

Journal:

Orphanet Journal of Rare Diseases

Année:

2007

Langue:

english

Fichier:

PDF, 666 KB

english, 2007

9

Detection of triploidy at 11-14 weeks' gestation: a cohort study of 198 000 pregnant women

Engelbrechtsen, L., Brøndum-Nielsen, K., Ekelund, C., Tabor, A., Skibsted, L.

Journal:

Ultrasound in Obstetrics & Gynecology

Année:

2013

Langue:

english

Fichier:

PDF, 229 KB

english, 2013

10

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

Année:

2009

Langue:

english

Fichier:

PDF, 100 KB

english, 2009

11

Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: Case report and review of the literature on partial trisomy 17qter

Sarri, C., Gyftodimou, J., Avramopoulos, D., Grigoriadou, M., Pedersen, W., Pandelia, E., Pangalos, C., Abazis, D., Kitsos, G., Vassilopoulos, D., Brøndum-Nielsen, K., Petersen, M. B.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 501 KB

english, 1997

12

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:

Année:

1997

Langue:

english

Fichier:

PDF, 113 KB

english, 1997

13

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

Année:

2000

Langue:

english

Fichier:

PDF, 239 KB

english, 2000

14

Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness

T. Antoniadi, K. Grønskov, A. Sand, A. Pampanos, K. Brøndum-Nielsen, M.B. Petersen

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 191 KB

english, 2000

15

Characterization of ATM mutations in 41 Nordic families with Ataxia Telangiectasia

K. Laake, L. Jansen, J.M. Hahnemann, K. Brøndum-Nielsen, T. Lönnqvist, H. Kääriäinen, R. Sankila, A. Lähdesmäki, L. Hammarström, J. Yuen, S. Tretli, A. Heiberg, J.H. Olsen, M. Tucker, R. Kleinerman, A

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 446 KB

english, 2000

16

Collaborative prospective study of the fragile X syndrome: One-year progress report

S. L. Sherman, G. Barbi, K. Brøndum-Nielsen, W. T. Brown, N. J. Carpenter, A. E. Chudley, O. P. Ferraz, P. Ferreira, K-H. Gustavson, J. Halliday, A. Hockey, P. N. Howard-Peebles, E. Jenkins, I. Kenner

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 422 KB

english, 1992

17

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

Année:

1992

Langue:

english

Fichier:

PDF, 487 KB

english, 1992

18

Ankyloblepharon filiforme adnatum and imperforate anus : A new family with apparently autosomal dominant inheritance

Dr. K. Brøndum-Nielsen

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 85 KB

english, 1993

19

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

Année:

1995

Langue:

english

Fichier:

PDF, 199 KB

english, 1995

20

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

Année:

2004

Langue:

english

Fichier:

PDF, 112 KB

english, 2004

21

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients

Z. Tümer, T.L. Harboe, E. Blennow, V.M. Kalscheuer, N. Tommerup, K. Brøndum-Nielsen

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 101 KB

english, 2004

22

Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome

S.E. Boonen, D. Stahl, S. Kreiborg, T. Rosenberg, V. Kalscheuer, L.A. Larsen, N. Tommerup, K. Brøndum-Nielsen, Z. Tümer

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 69 KB

english, 2005

23

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

Année:

2006

Langue:

english

Fichier:

PDF, 304 KB

english, 2006

24

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

Année:

2006

Langue:

english

Fichier:

PDF, 161 KB

english, 2006

25

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

Année:

2007

Langue:

english

Fichier:

PDF, 75 KB

english, 2007

26

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

Année:

2008

Langue:

english

Fichier:

PDF, 182 KB

english, 2008

27

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

Année:

2011

Langue:

english

Fichier:

PDF, 132 KB

english, 2011

28

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

Année:

2011

Langue:

english

Fichier:

PDF, 924 KB

english, 2011

29

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

Année:

2010

Langue:

english

Fichier:

PDF, 154 KB

english, 2010

30

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

Année:

1993

Langue:

english

Fichier:

PDF, 760 KB

english, 1993

31

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

Année:

1994

Langue:

english

Fichier:

PDF, 320 KB

english, 1994

32

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

Année:

1995

Langue:

english

Fichier:

PDF, 538 KB

english, 1995

33

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:

Année:

1998

Langue:

english

Fichier:

PDF, 228 KB

english, 1998

34

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

Année:

1993

Langue:

english

Fichier:

PDF, 1.03 MB

english, 1993

35

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

Année:

2011

Langue:

english

Fichier:

PDF, 145 KB

english, 2011

36

The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs

E Østergaard, B Montserrat-Sentis, K Grønskov, K Brøndum-Nielsen

Journal:

Clinical Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 48 KB

english, 2002

37

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

Année:

1998

Langue:

english

Fichier:

PDF, 70 KB

english, 1998

38

Rieger syndrome is associated with PAX6 deletion

Ruth Riise, Kari Storhaug, Karen Brøndum-Nielsen

Journal:

Acta Ophthalmologica (Blackwell)

Année:

2001

Langue:

english

Fichier:

PDF, 90 KB

english, 2001

39

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

Année:

1999

Langue:

english

Fichier:

PDF, 173 KB

english, 1999

40

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

Année:

2011

Langue:

english

Fichier:

PDF, 249 KB

english, 2011

41

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

Année:

2009

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2009

42

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

Année:

1992

Langue:

english

Fichier:

PDF, 276 KB

english, 1992

43

A 10-year survey, 1980–1990, of prenatally diagnosed small supernumerary marker chromosomes, identified by fish analysis. Outcome and follow-up of 14 cases diagnosed in a series of 12 699 prenatal samples

K. Brøndum-Nielsen, M. Mikkelsen

Journal:

Prenatal Diagnosis

Année:

1995

Langue:

english

Fichier:

PDF, 437 KB

english, 1995

44

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:

Année:

1991

Langue:

english

Fichier:

PDF, 241 KB

english, 1991

45

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:

Année:

1992

Langue:

english

Fichier:

PDF, 983 KB

english, 1992

46

Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms

K. Brøndum-Nielsen, Bente Beck, Jolanda Gyftodimou, Henning Hørlyk, Ulf Liljenberg, Minna Bloch Petersen, Winni Pedersen, Michael B. Petersen, Annie Sand, Flemming Skovby, Gerd Stafanger, P. Zetterqvi

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 202 KB

english, 1996

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:

Année:

1997

Langue:

english

Fichier:

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:

Année:

1998

Langue:

english

Fichier:

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:

Année:

1998

Langue:

english

Fichier:

PDF, 37 KB

english, 1998

50

Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing

A-B Skytte, A-M Gerdes, MK Andersen, L Sunde, K Brøndum-Nielsen, M Waldstrøm, S Kølvraa, D Crüger

Journal:

Clinical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 544 KB

english, 2010