Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
1 to 22 of 22  Show

Literature citations Results

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

Schonewolf-Greulich B., Tejada M.I., Stephens K., Hadzsiev K., Gauthier J., Brondum-Nielsen K., Pfundt R., Ravn K., Maortua H., Gener B. et al.

Clin. Genet. 89:733-738(2016) · Mapped (29)

Structure and localization of the human insulin-like growth factor-binding protein 2 gene.

Ehrenborg E., Vilhelmsdotter S., Bajalica S., Larsson C., Sterm I., Koch J., Brondum-Nielsen K., Luthman H.

Biochem. Biophys. Res. Commun. 176:1250-1255(1991) · UniProtKB (1)

Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study.

Munch I.C., Ek J., Kessel L., Sander B., Almind G.J., Brondum-Nielsen K., Linneberg A., Larsen M.

Invest. Ophthalmol. Vis. Sci. 51:2317-2321(2010) · Mapped (20)

Screening of the ARX gene in 682 retarded males.

Gronskov K., Hjalgrim H., Nielsen I.M., Brondum-Nielsen K.

Eur. J. Hum. Genet. 12:701-705(2004) · Mapped (1)

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

Skytte A.B., Gerdes A.M., Andersen M.K., Sunde L., Brondum-Nielsen K., Waldstrom M., Kolvraa S., Cruger D.

Clin. Genet. 77:342-349(2010) · Mapped (125)

Prevalence of GJB2 mutations in prelingual deafness in the Greek population.

Pampanos A., Economides J., Iliadou V., Neou P., Leotsakos P., Voyiatzis N., Eleftheriades N., Tsakanikos M., Antoniadi T., Hatzaki A. et al.

Int. J. Pediatr. Otorhinolaryngol. 65:101-108(2002) · Mapped (13)

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

Spritz R.A., Lee S.-T., Fukai K., Brondum-Nielsen K., Chitayat D., Lipson M.H., Musarella M.A., Rosenmann A., Weleber R.G.

Hum. Mutat. 10:175-177(1997) · UniProtKB (1)

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

Hjortshoj T.D., Gronskov K., Philp A.R., Nishimura D.Y., Adeyemo A., Rotimi C.N., Sheffield V.C., Rosenberg T., Brondum-Nielsen K.

Am. J. Med. Genet. A 146A:517-520(2008) · UniProtKB (1) · Mapped (2)

Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS.

Tumer Z., Bertelsen B., Gredal O., Magyari M., Nielsen K.C., Lucamp, Gronskov K., Brondum-Nielsen K.

Neurobiol. Aging 33:208.e1-5(2012) · Mapped (6)

No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome.

Boonen S.E., Hahnemann J.M., Mackay D., Tommerup N., Brondum-Nielsen K., Tumer Z., Gronskov K.

Eur. J. Hum. Genet. 20:119-121(2012) · Mapped (6)

Linkage and candidate gene studies of autism spectrum disorders in European populations.

EU Autism MOLGEN Consortium
Holt R., Barnby G., Maestrini E., Bacchelli E., Brocklebank D., Sousa I., Mulder E.J., Kantojarvi K., Jarvela I., Klauck S.M. et al.

Eur. J. Hum. Genet. 18:1013-1019(2010) · Mapped (59)

Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.

Bertelsen B., Melchior L., Jensen L.R., Groth C., Glenthoj B., Rizzo R., Debes N.M., Skov L., Brondum-Nielsen K., Paschou P. et al.

Eur. J. Hum. Genet. 22:1283-1289(2014) · Mapped (3)

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).

Silahtaroglu A.N., Brondum-Nielsen K., Gredal O., Werdelin L., Panas M., Petersen M.B., Tommerup N., Tumer Z.

BMC Genet. 3:5-5(2002) · Mapped (2)

GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.

Gronskov K., Larsen L.A., Rendtorff N.D., Parving A., Norgaard-Pedersen B., Brondum-Nielsen K.

Genet. Test. 8:181-184(2004) · Mapped (15)

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.

Almind G.J., Gronskov K., Milea D., Larsen M., Brondum-Nielsen K., Ek J.

BMC Med. Genet. 12:49-49(2011) · Mapped (8)

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.

Nolin S.L., Brown W.T., Glicksman A., Houck G.E. Jr., Gargano A.D., Sullivan A., Biancalana V., Brondum-Nielsen K., Hjalgrim H., Holinski-Feder E. et al.

Am. J. Hum. Genet. 72:454-464(2003) · Mapped (13)

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

Almind G.J., Ek J., Rosenberg T., Eiberg H., Larsen M., Lucamp L., Brondum-Nielsen K., Gronskov K.

BMC Med. Genet. 13:65-65(2012) · UniProtKB (1) · Mapped (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., Thomson J., Tumer Z., Brondum-Nielsen K., Murphy R., Ravn K., Melchior L., Dedic A. et al.

J. Med. Genet. 48:308-311(2011) · Mapped (4)

Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.

Gronskov K., Ek J., Sand A., Scheller R., Bygum A., Brixen K., Brondum-Nielsen K., Rosenberg T.

Invest. Ophthalmol. Vis. Sci. 50:1058-1064(2009) · Mapped (20)

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

Hjortshoj T.D., Gronskov K., Philp A.R., Nishimura D.Y., Riise R., Sheffield V.C., Rosenberg T., Brondum-Nielsen K.

Hum. Mutat. 31:429-436(2010) · UniProtKB (4)

Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort.

Bertelsen B., Stefansson H., Riff Jensen L., Melchior L., Mol Debes N., Groth C., Skov L., Werge T., Karagiannidis I., Tarnok Z. et al.

Biol. Psychiatry 79:383-391(2016) · Mapped (1)

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.

Hjortshoj T.D., Gronskov K., Brondum-Nielsen K., Rosenberg T.

Br J Ophthalmol 93:409-413(2009) · Mapped (8)

1 to 22 of 22  Show
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again