KAREN BRÖNDUM-NIELSEN: шукати на сайті Z-Library

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

Рік:

2000

Мова:

english

Файл:

PDF, 4.67 MB

english, 2000

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

Журнал:

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

Рік:

2005

Мова:

english

Файл:

PDF, 292 KB

english, 2005

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

Журнал:

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

Рік:

2010

Мова:

english

Файл:

PDF, 262 KB

english, 2010

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

Журнал:

Karen Grønskov, Jakob Ek, Karen Brondum-Nielsen

Рік:

2004

Мова:

english

Файл:

PDF, 73 KB

english, 2004

Oculocutaneous albinism

Журнал:

Orphanet Journal of Rare Diseases

Рік:

2007

Мова:

english

Файл:

PDF, 666 KB

english, 2007

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

Журнал:

Investigative Ophthalmology & Visual Science

Рік:

2009

Мова:

english

Файл:

PDF, 100 KB

english, 2009

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

Журнал:

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

Рік:

1997

Мова:

english

Файл:

PDF, 113 KB

english, 1997

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

Журнал:

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

Рік:

2000

Мова:

english

Файл:

PDF, 239 KB

english, 2000

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

Журнал:

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

Рік:

1992

Мова:

english

Файл:

PDF, 487 KB

english, 1992

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

Журнал:

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

Рік:

1995

Мова:

english

Файл:

PDF, 199 KB

english, 1995

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

Журнал:

Рік:

2004

Мова:

english

Файл:

PDF, 112 KB

english, 2004

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

Журнал:

Рік:

2006

Мова:

english

Файл:

PDF, 304 KB

english, 2006

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

Журнал:

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

Рік:

2006

Мова:

english

Файл:

PDF, 161 KB

english, 2006

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

Журнал:

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

Рік:

2007

Мова:

english

Файл:

PDF, 75 KB

english, 2007

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

Журнал:

Рік:

2008

Мова:

english

Файл:

PDF, 182 KB

english, 2008

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

Журнал:

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

Рік:

2011

Мова:

english

Файл:

PDF, 132 KB

english, 2011

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

Журнал:

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

Рік:

2011

Мова:

english

Файл:

PDF, 924 KB

english, 2011

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

Журнал:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Рік:

2010

Мова:

english

Файл:

PDF, 154 KB

english, 2010

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

Журнал:

Genes, Chromosomes and Cancer

Рік:

1993

Мова:

english

Файл:

PDF, 760 KB

english, 1993

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

Журнал:

Genes, Chromosomes and Cancer

Рік:

1994

Мова:

english

Файл:

PDF, 320 KB

english, 1994

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

Журнал:

Genes, Chromosomes and Cancer

Рік:

1995

Мова:

english

Файл:

PDF, 538 KB

english, 1995

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

Журнал:

International Journal of Cancer

Рік:

1998

Мова:

english

Файл:

PDF, 228 KB

english, 1998

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

Журнал:

Рік:

1993

Мова:

english

Файл:

PDF, 1.03 MB

english, 1993

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

Журнал:

Journal of Bone and Mineral Research

Рік:

2011

Мова:

english

Файл:

PDF, 145 KB

english, 2011

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

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

Журнал:

Acta Obstetricia et Gynecologica Scandinavica

Рік:

1998

Мова:

english

Файл:

PDF, 70 KB

english, 1998

Rieger syndrome is associated with PAX6 deletion

Ruth Riise, Kari Storhaug, Karen Brøndum-Nielsen

Журнал:

Acta Ophthalmologica (Blackwell)

Рік:

2001

Мова:

english

Файл:

PDF, 90 KB

english, 2001

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

Журнал:

European Journal of Oral Sciences

Рік:

1999

Мова:

english

Файл:

PDF, 173 KB

english, 1999

Genomic deletions inOPA1in Danish patients with autosomal dominant optic atrophy

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

Журнал:

BMC Medical Genetics

Рік:

2011

Мова:

english

Файл:

PDF, 249 KB

english, 2011

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

Журнал:

Molecular Cytogenetics

Рік:

2009

Мова:

english

Файл:

PDF, 1.11 MB

english, 2009

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

Журнал:

Prenatal Diagnosis

Рік:

1992

Мова:

english

Файл:

PDF, 276 KB

english, 1992

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

Журнал:

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

Рік:

1991

Мова:

english

Файл:

PDF, 241 KB

english, 1991

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

Журнал:

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

Рік:

1992

Мова:

english

Файл:

PDF, 983 KB

english, 1992

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

Журнал:

K. Grønskov, Anni Hallberg, Karen Brøndum-Nielsen

Рік:

1997

Мова:

english

Файл:

PDF, 80 KB

english, 1997

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

Журнал:

Karen Grønskov, K. Brøndum-Nielsen

Рік:

1998

Мова:

english

Файл:

PDF, 104 KB

english, 1998

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”

Журнал:

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

Рік:

1998

Мова:

english

Файл:

PDF, 37 KB

english, 1998

A nonsense mutation in FMR1 causing fragile X syndrome

Журнал:

Schulze, Astrid, Hansen, Claus, Skakkebæk, Niels Erik, Brøndum-Nielsen, Karen, Ledbetter, David H., Tommerup, Niels

Рік:

2011

Мова:

english

Файл:

PDF, 215 KB

english, 2011

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

Журнал:

Nature Genetics

Рік:

1996

Файл:

PDF, 407 KB

1996

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype

Grønskov, Karen, Rosenberg, Thomas, Sand, Annie, Brøndum-Nielsen, Karen

Журнал:

Larsen, Lars Allan, Armstrong, Judith SM, Grønskov, Karen, Hjalgrim, Helle, Brøndum-Nielsen, Karen, Hasholt, Lis, Nørgaard-Pedersen, Bent, Vuust, Jens

Рік:

1999

Мова:

english

Файл:

PDF, 260 KB

english, 1999

Analysis of FMR1 (CGG)n alleles and FRAXA microsatellite haplotypes in the population of Greenland: implications for the population of the New World from Asia

Журнал:

Gasparini, Paolo, Rabionet, Raquel, Barbujani, Guido, Melchionda, Salvatore, Petersen, Michael, Brøndum-Nielsen, Karen, Metspalu, Andres, Oitmaa, Eneli, Pisano, Marina, Fortina, Paolo

Рік:

1999

Мова:

english

Файл:

PDF, 322 KB

english, 1999

High carrier frequency of the 35delG deafness mutation in European populations

Журнал:

Рік:

2000

Мова:

english

Файл:

PDF, 273 KB

english, 2000

Chromosome Abnormalities and Genetic Counselling

Brondum-Nielsen, Karen

Журнал:

Schoumans, Jacqueline, Nielsen, Kate, Jeppesen, Iben, Anderlid, Britt-Marie, Blennow, Elisabeth, Brøndum-Nielsen, Karen, Nordenskjöld, Magnus

Рік:

2004

Мова:

english

Файл:

PDF, 40 KB

english, 2004

A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size

Журнал:

Grønskov, Karen, Hjalgrim, Helle, Nielsen, Inge-Merete, Brøndum-Nielsen, Karen

Рік:

2004

Мова:

english

Файл:

PDF, 194 KB

english, 2004

Screening of the ARX gene in 682 retarded males

Журнал:

Jacobs, Patricia A, Brondum-Nielsen, Karen

Рік:

2004

Мова:

english

Файл:

PDF, 97 KB

english, 2004

Margareta Mikkelsen, 4 November 1923–28 June 2004

Журнал:

Рік:

2004

Мова:

english

Файл:

PDF, 39 KB

english, 2004

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

Bache, Iben, Hjorth, Mads, Bugge, Merete, Holstebroe, Søren, Hilden, Jørgen, Schmidt, Lone, Brondum-Nielsen, Karen, Bruun-Petersen, Gert, Jensen, Peter K A, Lundsteen, Claes

Журнал:

Boonen, Susanne E, Pörksen, Sven, Mackay, Deborah J G, Oestergaard, Elsebet, Olsen, Birthe, Brondum-Nielsen, Karen, Temple, I Karen, Hahnemann, Johanne M D

Рік:

2006

Мова:

english

Файл:

PDF, 108 KB

english, 2006

Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

Журнал: