K
Karen Brøndum-Nielsen
Researcher at Copenhagen University Hospital
Publications - 160
Citations - 7834
Karen Brøndum-Nielsen is an academic researcher from Copenhagen University Hospital. The author has contributed to research in topics: Fluorescence in situ hybridization & Chromosomal translocation. The author has an hindex of 43, co-authored 158 publications receiving 7354 citations. Previous affiliations of Karen Brøndum-Nielsen include Karolinska Institutet & Odense University.
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Journal ArticleDOI
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan,Judith A. Goodship,D I Wilson,Nicole Philip,A. Levy,H Seidel,S Schuffenhauer,H Oechsler,B Belohradsky,M Prieur,Alain Aurias,F L Raymond,Jill Clayton-Smith,E Hatchwell,C McKeown,Frits A. Beemer,Bruno Dallapiccola,Giuseppe Novelli,Jane A. Hurst,J Ignatius,A J Green,Robin M. Winter,Louise Brueton,Karen Brøndum-Nielsen,Peter J. Scambler +24 more
TL;DR: The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters, and the majority of surviving patients were developmentally normal or had only mild learning problems.
Journal ArticleDOI
A full genome screen for autism with evidence for linkage to a region on chromosome 7q International Molecular Genetic Study of Autism Consortium
Anthony J. Bailey,Amaia Hervas,Nicola Matthews,Sarah Palferman,Simon Wallace,Anne Aubin,Janine Michelotti,Catherine Wainhouse,Katerina Papanikolaou,Michael Rutter,Elena Maestrini,Angela J. Marlow,Daniel E. Weeks,Daniel E. Weeks,Janine A. Lamb,Clyde Francks,Georgina Kearsley,Pat Scudder,Anthony P. Monaco,Gillian Baird,Anthony Cox,Helen Cockerill,Fleming Nuffield,Ann Le Couteur,Tom Berney,Hayley Cooper,Thomas Kelly,Jonathan Green,Jane Whittaker,Anne Gilchrist,Patrick Bolton,Anne Schönewald,Michael G. Daker,Caroline Mackie Ogilvie,Zoe Docherty,Zandra Deans,Bryan Bolton,Ros Packer,Fritz Poustka,Dorothea Rühl,Gabriele Schmötzer,Sven Bölte,Sabine M. Klauck,Anja Spieler,Annemarie Poustka,Herman van Engeland,Chantal Kemner,Maretha de Jonge,Ineke Den Hartog,Catherine Lord,Edwin H. Cook,Bennett L. Leventhal,Fred Volkmar,David Pauls,Ami Klin,Susan L. Smalley,Eric Fombonne,Bernadette Rogé,Maïté Tauber,Evelyne Arti-Vartayan,Jeanne Fremolle-Kruck,Lennart Pederson,Demetrious Haracopos,Karen Brøndum-Nielsen,Rodney M. J. Cotterill +64 more
TL;DR: A two-stage genome search for susceptibility loci in autism was performed on 87 affected sib pairs plus 12 non-sib affected relative-pairs, from a total of 99 families identified by an international consortium, and a region on chromosome 7q was the most significant.
Journal ArticleDOI
High carrier frequency of the 35delG deafness mutation in European populations
Paolo Gasparini,Raquel Rabionet,Guido Barbujani,Salvatore Melchionda,Michael B. Petersen,Karen Brøndum-Nielsen,Andres Metspalu,Eneli Oitmaa,Marina Pisano,Paolo Fortina,Leopoldo Zelante,Xavier Estivill +11 more
TL;DR: The 35delG carrier frequency of 1 in 51 in the overall European population clearly indicates that this genetic alteration is a major mutation for autosomal recessive deafness in Caucasoids, which should facilitate diagnosis of congenital deafness and allow early treatment of the affected subjects.
Journal ArticleDOI
Oculocutaneous albinism
TL;DR: Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes as discussed by the authors.
Journal ArticleDOI
Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles
Sarah L. Nolin,W. Ted Brown,Anne Glicksman,George E. Houck,Alice D. Gargano,Amy K. Sullivan,Valérie Biancalana,Karen Brøndum-Nielsen,Helle Hjalgrim,Elke Holinski-Feder,R. Frank Kooy,John W. Longshore,James N. Macpherson,Jean-Louis Mandel,Gert Matthijs,François Rousseau,Peter Steinbach,Marja-Leena Väisänen,Harriet von Koskull,Stephanie L. Sherman +19 more
TL;DR: The smallest premutation alleles that expanded to a full mutation (>200 repeats) in one generation contained 59 repeats; sequence analysis of the 59-repeat alleles from these two females revealed no AGG interruptions within the FMR1 CGG repeat.