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1

National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

Tørring, P.M., Brusgaard, K., Ousager, L.B., Andersen, P.E., Kjeldsen, A.D.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 1.15 MB

english, 2014

2

Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps

Jelsig, Anne Marie, Brusgaard, Klaus, Hansen, Tine Plato, Qvist, Niels, Larsen, Martin, Bojesen, Anders, Nielsen, Claus Buhl, Ousager, Lilian Bomme

Journal:

Scandinavian Journal of Gastroenterology

Year:

2016

Language:

english

File:

PDF, 1.07 MB

english, 2016

3

Pigmentary mosaicism: a review of original literature and recommendations for future handling

Kromann, Anna Boye, Ousager, Lilian Bomme, Ali, Inas Kamal Mohammad, Aydemir, Nurcan, Bygum, Anette

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 808 KB

english, 2018

4

Low noise alternating current amplifier and compensator to reduce stimulus artefact

Vagn Ousager Andersen, Fritz Buchthal

Journal:

Medical and Biological Engineering and Computing

Year:

1970

Language:

english

File:

PDF, 574 KB

english, 1970

5

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

Pagel, J., Beutel, K., Lehmberg, K., Koch, F., Maul-Pavicic, A., Rohlfs, A.-K., Al-Jefri, A., Beier, R., Bomme Ousager, L., Ehlert, K., Gross-Wieltsch, U., Jorch, N., Kremens, B., Pekrun, A., Sparber-

Journal:

Year:

2012

Language:

english

File:

PDF, 324 KB

english, 2012

6

Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia

Tørring, Pernille M., Larsen, Martin Jakob, Kjeldsen, Anette D., Ousager, Lilian Bomme, Tan, Qihua, Brusgaard, Klaus

Journal:

Microvascular Research

Year:

2015

Language:

english

File:

PDF, 954 KB

english, 2015

7

Hamartomatous polyposis syndromes: A review

Jelsig, Anne, Qvist, Niels, Brusgaard, Klaus, Nielsen, Claus, Hansen, Tine, Ousager, Lilian

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 982 KB

english, 2014

8

Humanities in Undergraduate Medical Education: A Literature Review

Ousager, Jakob, Johannessen, Helle

Journal:

Academic Medicine

Year:

2010

Language:

english

File:

PDF, 333 KB

english, 2010

9

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

Rossing, Maria, Albrechtsen, Anders, Skytte, Anne-Bine, Jensen, Uffe B, Ousager, Lilian B, Gerdes, Anne-Marie, Nielsen, Finn C, Hansen, Thomas vO

Journal:

Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 310 KB

english, 2016

10

Gender gaps in scientific performance: a longitudinal matching study of health sciences researchers

Frandsen, Tove Faber, Jacobsen, Rasmus HÃ¸jbjerg, Ousager, Jakob

Journal:

Year:

2020

File:

PDF, 894 KB

2020

11

Mutation update for the PORCN gene

Maria Paola Lombardi, Saskia Bulk, Jacopo Celli, Anne Lampe, Michael T. Gabbett, Lillian Bomme Ousager, Jasper J. van der Smagt, Maria Soller, Eva-Lena Stattin, Marcel A.M.M. Mannens, Robert Smigiel,

Journal:

Year:

2011

Language:

english

File:

PDF, 225 KB

english, 2011

12

Skin manifestations in a case of trisomy 16 mosaicism

L.B. Ousager, F. Brandrup, C. Brasch-Andersen, A. Erlendsson

Journal:

British Journal of Dermatology

Year:

2006

Language:

english

File:

PDF, 379 KB

english, 2006

13

Der Neuplatonismus Jens Peter Jacobsens

Journal:

Orbis Litterarum

Year:

1994

Language:

german

File:

PDF, 1.83 MB

german, 1994

14

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Christiane Zweier, Eiko K. de Jong, Markus Zweier, Alfredo Orrico, Lilian B. Ousager, Amanda L. Collins, Emilia K. Bijlsma, Merel A.W. Oortveld, Arif B. Ekici, André Reis, Annette Schenck, Anita Rauch

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.15 MB

english, 2009

15

Automatic transport device for microelectrodes

V. Ousager Andersen, A. Mosfeldt Laursen

Journal:

Electroencephalography and Clinical Neurophysiology

Year:

1959

Language:

english

File:

PDF, 109 KB

english, 1959

16

C.P.4.10 Mutation spectrum of the large GTPase dynamin 2 in autosomal centronuclear myopathy

A. Toussaint, A. Nicot, N. Dondaine, C. Kretz, C. Poirson, E. Zanoteli, C. Wallgren-Pettersson, A. Echaniz-Laguna, L. Bomme Ousager, A. Krause, C. Jern, L. Merlini, A. Oliveira, V. Biancalana, J. Mand

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 46 KB

english, 2007

17

Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal naevus syndrome

L.B. Ousager, A. Bygum, C. Hafner

Journal:

British Journal of Dermatology

Year:

2012

Language:

english

File:

PDF, 193 KB

english, 2012

18

Heart defects and other features of the 22q11 distal deletion syndrome

Fagerberg, Christina R., Graakjaer, Jesper, Heinl, Ulrike D., Ousager, Lilian B., Dreyer, Inken, Kirchhoff, Maria, Rasmussen, Anders A., Lautrup, Charlotte K., Birkebaek, Niels, Sorensen, Keld

Journal:

European Journal of Medical Genetics

Year:

2013

Language:

english

File:

PDF, 947 KB

english, 2013

19

Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

Kroeldrup, L., Kjaergaard, S., Kirchhoff, M., Kock, K., Brasch-Andersen, C., Kibaek, M., Ousager, L.B.

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 689 KB

english, 2012

20

Histiocytic disorders of the gastrointestinal tract

Detlefsen, Sönke, Fagerberg, Christina R., Ousager, Lilian B., Lindebjerg, Jan, Marcussen, Niels, Nathan, Torben, Sørensen, Flemming B.

Journal:

Human Pathology

Year:

2013

Language:

english

File:

PDF, 5.13 MB

english, 2013

21

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L inKCNH2

Christiansen, Michael, Hedley, Paula L, Theilade, Juliane, Stoevring, Birgitte, Leren, Trond P, Eschen, Ole, Sørensen, Karina M, Tybjærg-Hansen, Anne, Ousager, Lilian B, Pedersen, Lisbeth N, Frikke-Sc

Journal:

BMC Medical Genetics

Year:

2014

Language:

english

File:

PDF, 278 KB

english, 2014

22

Allelic Dropout in the ENG Gene, Affecting the Results of Genetic Testing in Hereditary Hemorrhagic Telangiectasia

Tørring, Pernille M., Kjeldsen, Anette D., Ousager, Lilian Bomme, Brasch-Andersen, Charlotte, Brusgaard, Klaus

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2012

Language:

english

File:

PDF, 1.94 MB

english, 2012

23

Research participants in NGS studies want to know about incidental findings

Jelsig, Anne Marie, Qvist, Niels, Brusgaard, Klaus, Ousager, Lilian Bomme

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 260 KB

english, 2015

24

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

Gil-Rodríguez, María Concepción, Deardorff, Matthew A., Ansari, Morad, Tan, Christopher A., Parenti, Ilaria, Baquero-Montoya, Carolina, Ousager, Lilian B., Puisac, Beatriz, Hernández-Marcos, María, Te

Journal:

Year:

2015

Language:

english

File:

PDF, 935 KB

english, 2015

25

Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation

Kralund, Henrik H., Ousager, Lilian, Jaspers, Nicolaas G., Raams, Anja, Pedersen, Erling B., Gade, Else, Bygum, Anette

Journal:

Year:

2013

Language:

english

File:

PDF, 1.60 MB

english, 2013

26

On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO

Bjorkhem, I., Diczfalusy, U., Lovgren-Sandblom, A., Starck, L., Jonsson, M., Tallman, K., Schirmer, H., Ousager, L. B., Crick, P. J., Wang, Y., Griffiths, W. J., Guengerich, F. P.

Journal:

The Journal of Lipid Research

Year:

2014

Language:

english

File:

PDF, 860 KB

english, 2014

27

Gender differences in scientific performance: A bibliometric matching analysis of Danish health sciences Graduates

Frandsen, Tove Faber, Jacobsen, Rasmus Højbjerg, Wallin, Johan A., Brixen, Kim, Ousager, Jakob

Journal:

Journal of Informetrics

Year:

2015

Language:

english

File:

PDF, 801 KB

english, 2015

28

Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1

Krøigård, Anne B., Jackson, Andrew P., Bicknell, Louise S., Baple, Emma, Brusgaard, Klaus, Hansen, Lars K., Ousager, Lilian B.

Journal:

Clinical Dysmorphology

Year:

2016

Language:

english

File:

PDF, 247 KB

english, 2016

29

Disease pattern in Danish patients with Peutz-Jeghers syndrome

Jelsig, A. M., Qvist, N., Sunde, L., Brusgaard, K., Hansen, Tvo, Wikman, F. P., Nielsen, C. B., Nielsen, I. K., Gerdes, A. M., Bojesen, A., Ousager, L. B.

Journal:

International Journal of Colorectal Disease

Year:

2016

Language:

english

File:

PDF, 540 KB

english, 2016

30

Book Reviews

Mogensen, Margit, Grønlie, Tore, Söderberg, Johan, Morell, Mats, Ronit, Karsten, Ousager, Steen, Rasmussen, Frank Allan, Salminen, Tapio

Journal:

Scandinavian Economic History Review

Year:

1997

Language:

english

File:

PDF, 1.78 MB

english, 1997

31

JP-HHT phenotype in Danish patients with SMAD4 mutations

Jelsig, A. M., Tørring, P. M., Kjeldsen, A. D., Qvist, N., Bojesen, A., Jensen, U. B., Andersen, M. K., Gerdes, A. M., Brusgaard, K., Ousager, L. B.

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 139 KB

english, 2016

32

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

Twigg, Stephen R.F., Ousager, Lilian O., Miller, Kerry A., Zhou, Yan, Elalaoui, Siham C., Sefiani, Abdelaziz, Bak, Geske C., Hove, Hanne, Hansen, Lars K., Fagerberg, Christina R., Tajir, Mariam, Wilki

Journal:

Clinical Genetics

Year:

2015

Language:

english

File:

PDF, 747 KB

english, 2015

33

Two siblings with microcephaly, growth retardation, cataract, hearing loss, and unusual appearance

Hansen, Lars Kjaersgaard, Bygum, Anette, Ousager, Lilian Bomme

Journal:

Clinical Dysmorphology

Year:

2009

Language:

english

File:

PDF, 191 KB

english, 2009

34

Germline mutations in BMP9 are not identified in a series of Danish and French patients with hereditary hemorrhagic telangiectasia

Tørring, Pernille M., Dupuis-Girod, Sophie, Giraud, Sophie, Brusgaard, Klaus, Ousager, Lilian Bomme, Kjeldsen, Anette D.

Journal:

Year:

2016

Language:

english

File:

PDF, 322 KB

english, 2016

35

Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)

Krøigård, Anne Bruun, Frost, Morten, Larsen, Martin Jakob, Ousager, Lilian Bomme, Frederiksen, Anja Lisbeth

Journal:

Year:

2016

Language:

english

File:

PDF, 223 KB

english, 2016

36

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm

Jelsig, Anne Marie, Urban, Zsolt, Hucthagowder, Vishwanathan, Nissen, Henrik, Ousager, Lilian Bomme

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 553 KB

english, 2016

37

Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia

Tørring, Pernille Mathiesen, Lauridsen, Mathilde Faurholdt, i Dali, Christine, Andersen, Poul Erik, Ousager, Lillian Bomme, Brusgaard, Klaus, Kjeldsen, Anette

Journal:

Clinical Case Reports

Year:

2017

Language:

english

File:

PDF, 84 KB

english, 2017

38

Juvenile Polyps in Denmark From 1995 to 2014

Jelsig, Anne Marie, Ousager, Lilian Bomme, Brusgaard, Klaus, Qvist, Niels

Journal:

Diseases of the Colon & Rectum

Year:

2016

Language:

english

File:

PDF, 327 KB

english, 2016

39

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

Martin, Sonja, Chamberlin, Adam, Shinde, Deepali N., Hempel, Maja, Strom, Tim M., Schreiber, Allison, Johannsen, Jessika, Ousager, Lilian Bomme, Larsen, Martin J., Hansen, Lars Kjaersgaard, Fatemi, Al

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.22 MB

english, 2017

40

ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

Tørring, Pernille M., Kjeldsen, Anette D., Ousager, Lilian Bomme, Brusgaard, Klaus

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.77 MB

english, 2017

41

Autosomal dominant stapes fixation, syndactyly, and symphalangism in a family with NOG mutation: Long term follow-up on surgical treatment

Westergaard-Nielsen, Marie, Amstrup, Tine, Wanscher, Jens Højberg, Brusgaard, Klaus, Ousager, Lilian Bomme

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2018

Language:

english

File:

PDF, 614 KB

english, 2018

42

Long Non-Coding RNA Expression Profiles in Hereditary Haemorrhagic Telangiectasia

Tørring, Pernille M., Larsen, Martin Jakob, Kjeldsen, Anette D., Ousager, Lilian Bomme, Tan, Qihua, Brusgaard, Klaus, Wu, Qiong

Journal:

Year:

2014

Language:

english

File:

PDF, 1.20 MB

english, 2014

43

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

Gregor, Anne, Sadleir, Lynette G., Asadollahi, Reza, Azzarello-Burri, Silvia, Battaglia, Agatino, Ousager, Lilian Bomme, Boonsawat, Paranchai, Bruel, Ange-Line, Buchert, Rebecca, Calpena, Eduardo, Cog

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.77 MB

english, 2018

44

F75THE TRUE CONTRIBUTION OF THE 15Q11.2 BP1-BP2 DELETION TO NEURODEVELOPMENTAL SYMPTOMS

Jønch, Aia, Douard, Elise, Moreau, Clara, Van Dijck, Anke, Kooy, Frank, Sanlaville, Damien, Brasch-Andersen, Charlotte, Lemyre, Emmanuelle, Ousager, Lilian B., Jacquemont, Sébastien

Journal:

European Neuropsychopharmacology

Year:

2019

Language:

english

File:

PDF, 70 KB

english, 2019

45

c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis

Kdissa, Ameni, Brusgaard, Klaus, Ksiaa, Mahdi, Golli, Lamia, Hallara, Olfa, Ousager, Lilian Bomme, Manoubi, Wiem, Seghaier, Rihab Ben, Adala, Labiba, Halleb, Yosra, Saad, Ali, Hmila, Fahmi, Gribaa, Mo

Journal:

Cancer Genetics

Year:

2020

File:

PDF, 1.44 MB

2020

46

Low frequency of parental mosaicism in de novo COL4A5 mutations in Xâlinked Alport syndrome

Helle, Ole Magnus Bjorgaas, Pedersen, Torkild HÃ¸ieggen, Ousager, Lilian Bomme, Thomassen, Mads, Hertz, Jens Michael

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 634 KB

2020

47

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

Aagaard, Katrine S., Brusgaard, Klaus, Miceikaite, Ieva, Larsen, Martin J., Kjeldsen, Anette D., Lester, Emilie B., Ousager, Lilian B., TÃ¸rring, Pernille M.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 947 KB

2020