Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 261

1.

A comprehensive map of single-base polymorphisms in the hypervariable LPA kringle IV type 2 copy number variation region.

Coassin S, Schönherr S, Weissensteiner H, Erhart G, Forer L, Losso JL, Lamina C, Haun M, Utermann G, Paulweber B, Specht G, Kronenberg F.

J Lipid Res. 2019 Jan;60(1):186-199. doi: 10.1194/jlr.M090381. Epub 2018 Nov 9.

2.

Significant differentiation in the apolipoprotein(a)/lipoprotein(a) trait between chimpanzees from Western and Central Africa.

Noureen A, Ronke C, Khalifa M, Halbwax M, Fischer A, André C, Atencia R, Garriga R, Mugisha L, Ceglarek U, Thiery J, Utermann G, Schmidt K.

Am J Primatol. 2017 Sep;79(9). doi: 10.1002/ajp.22683. Epub 2017 Jul 3.

PMID:
28671714
3.

A novel but frequent variant in LPA KIV-2 is associated with a pronounced Lp(a) and cardiovascular risk reduction.

Coassin S, Erhart G, Weissensteiner H, Eca Guimarães de Araújo M, Lamina C, Schönherr S, Forer L, Haun M, Losso JL, Köttgen A, Schmidt K, Utermann G, Peters A, Gieger C, Strauch K, Finkenstedt A, Bale R, Zoller H, Paulweber B, Eckardt KU, Hüttenhofer A, Huber LA, Kronenberg F.

Eur Heart J. 2017 Jun 14;38(23):1823-1831. doi: 10.1093/eurheartj/ehx174.

4.

Structure, function, and genetics of lipoprotein (a).

Schmidt K, Noureen A, Kronenberg F, Utermann G.

J Lipid Res. 2016 Aug;57(8):1339-59. doi: 10.1194/jlr.R067314. Epub 2016 Apr 13. Review.

5.

Lack of association of rs3798220 with small apolipoprotein(a) isoforms and high lipoprotein(a) levels in East and Southeast Asians.

Khalifa M, Noureen A, Ertelthalner K, Bandegi AR, Delport R, Firdaus WJ, Geethanjali FS, Luthra K, Makemaharn O, Pang RW, Salem AH, Sasaki J, Schiefenhoevel W, Lingenhel A, Kronenberg F, Utermann G, Schmidt K.

Atherosclerosis. 2015 Oct;242(2):521-8. doi: 10.1016/j.atherosclerosis.2015.07.015. Epub 2015 Jul 15.

PMID:
26302166
6.

Sequence variation within the KIV-2 copy number polymorphism of the human LPA gene in African, Asian, and European populations.

Noureen A, Fresser F, Utermann G, Schmidt K.

PLoS One. 2015 Mar 30;10(3):e0121582. doi: 10.1371/journal.pone.0121582. eCollection 2015.

7.

X-linked MTMR8 diversity and evolutionary history of sub-Saharan populations.

Labuda D, Yotova V, Lefebvre JF, Moreau C, Utermann G, Williams SM.

PLoS One. 2013 Nov 25;8(11):e80710. doi: 10.1371/journal.pone.0080710. eCollection 2013.

8.

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.

Spreiz A, Haberlandt E, Baumann M, Baumgartner Sigl S, Fauth C, Gautsch K, Karall D, Janetschek C, Rostasy K, Scholl-Bürgi S, Zotter S, Utermann G, Zschocke J, Kotzot D.

Clin Genet. 2014 Oct;86(4):361-6. doi: 10.1111/cge.12288. Epub 2013 Oct 28.

PMID:
24116836
9.

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

Spreiz A, Guilherme RS, Castellan C, Green A, Rittinger O, Wellek B, Utermann B, Erdel M, Fauth C, Haberlandt E, Kim CA, Kulikowski LD, Meloni VA, Utermann G, Zschocke J, Melaragno MI, Kotzot D.

J Pediatr. 2013 Oct;163(4):1174-8.e3. doi: 10.1016/j.jpeds.2013.06.005. Epub 2013 Jul 19.

PMID:
23876976
10.

Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

Frühmesser A, Erdel M, Duba HC, Fauth C, Amberger A, Utermann G, Zschocke J, Kotzot D.

Eur J Med Genet. 2013 Jul;56(7):383-8. doi: 10.1016/j.ejmg.2013.04.003. Epub 2013 Apr 19.

PMID:
23608969
11.

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

Frühmesser A, Blake J, Haberlandt E, Baying B, Raeder B, Runz H, Spreiz A, Fauth C, Benes V, Utermann G, Zschocke J, Kotzot D.

Eur J Hum Genet. 2013 Oct;21(10):1177-80. doi: 10.1038/ejhg.2013.18. Epub 2013 Feb 20.

12.

Lipoprotein(a): resurrected by genetics.

Kronenberg F, Utermann G.

J Intern Med. 2013 Jan;273(1):6-30. doi: 10.1111/j.1365-2796.2012.02592.x. Epub 2012 Nov 12. Review.

13.

Effects of deletion and duplication in a patient with a 46,XX,der(7)t(7;17)(q36;p13)mat karyotype.

Frühmesser A, Haberlandt E, Judmaier W, Schinzel A, Utermann B, Erdel M, Fauth C, Utermann G, Zschocke J, Kotzot D.

Am J Med Genet A. 2012 Sep;158A(9):2239-44. doi: 10.1002/ajmg.a.35450. Epub 2012 Jul 20.

PMID:
22821890
14.

Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations.

Höckner M, Spreiz A, Frühmesser A, Tzschach A, Dufke A, Rittinger O, Kalscheuer V, Singer S, Erdel M, Fauth C, Grossmann V, Utermann G, Zschocke J, Kotzot D.

Cytogenet Genome Res. 2012;136(4):242-5. doi: 10.1159/000337923. Epub 2012 Apr 18.

15.

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM.

Am J Hum Genet. 2011 Dec 9;89(6):713-30. doi: 10.1016/j.ajhg.2011.11.005.

16.

Adaptations to climate-mediated selective pressures in humans.

Hancock AM, Witonsky DB, Alkorta-Aranburu G, Beall CM, Gebremedhin A, Sukernik R, Utermann G, Pritchard JK, Coop G, Di Rienzo A.

PLoS Genet. 2011 Apr;7(4):e1001375. doi: 10.1371/journal.pgen.1001375. Epub 2011 Apr 21.

17.

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.

Clayton P, Fischer B, Mann A, Mansour S, Rossier E, Veen M, Lang C, Baasanjav S, Kieslich M, Brossuleit K, Gravemann S, Schnipper N, Karbasyian M, Demuth I, Zwerger M, Vaya A, Utermann G, Mundlos S, Stricker S, Sperling K, Hoffmann K.

Nucleus. 2010 Jul-Aug;1(4):354-66. doi: 10.4161/nucl.1.4.12435. Epub 2010 May 21.

18.

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

Spreiz A, Müller D, Zotter S, Albrecht U, Baumann M, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D.

Am J Med Genet A. 2010 Nov;152A(11):2762-7. doi: 10.1002/ajmg.a.33699.

PMID:
20954245
19.

Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis.

Grossmann V, Höckner M, Karmous-Benailly H, Liang D, Puttinger R, Quadrelli R, Röthlisberger B, Huber A, Wu L, Spreiz A, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D.

Clin Genet. 2010 Dec;78(6):548-53. doi: 10.1111/j.1399-0004.2010.01419.x.

PMID:
20584030
20.

Colloquium paper: human adaptations to diet, subsistence, and ecoregion are due to subtle shifts in allele frequency.

Hancock AM, Witonsky DB, Ehler E, Alkorta-Aranburu G, Beall C, Gebremedhin A, Sukernik R, Utermann G, Pritchard J, Coop G, Di Rienzo A.

Proc Natl Acad Sci U S A. 2010 May 11;107 Suppl 2:8924-30. doi: 10.1073/pnas.0914625107. Epub 2010 May 5.

21.

Genetic variants in Lp(a) lipoprotein and coronary disease.

Kraft HG, Kronenberg F, Utermann G.

N Engl J Med. 2010 Mar 25;362(12):1146; author reply 1147-8. doi: 10.1056/NEJMc1000955. No abstract available.

PMID:
20335594
22.

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.

Ruemmele FM, Müller T, Schiefermeier N, Ebner HL, Lechner S, Pfaller K, Thöni CE, Goulet O, Lacaille F, Schmitz J, Colomb V, Sauvat F, Revillon Y, Canioni D, Brousse N, de Saint-Basile G, Lefebvre J, Heinz-Erian P, Enninger A, Utermann G, Hess MW, Janecke AR, Huber LA.

Hum Mutat. 2010 May;31(5):544-51. doi: 10.1002/humu.21224.

PMID:
20186687
23.

Parental origin and mechanism of formation of a 46,X,der(X)(pter-->q21.1::p11.4-->pter)/45,X karyotype in a woman with mild Turner syndrome.

Binkert F, Spreiz A, Höckner M, Miny P, von Dach Leu B, Erdel M, Zschocke J, Utermann G, Kotzot D.

Fertil Steril. 2010 Jun;94(1):350.e12-5. doi: 10.1016/j.fertnstert.2009.12.040. Epub 2010 Feb 1.

PMID:
20117774
24.

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

Dündar M, Müller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR.

Am J Hum Genet. 2009 Dec;85(6):873-82. doi: 10.1016/j.ajhg.2009.11.010.

25.

"Essentially" pure trisomy 3q27 --> qter: further delineation of the partial trisomy 3q phenotype.

Grossmann V, Müller D, Müller W, Fresser F, Erdel M, Janecke AR, Zschocke J, Utermann G, Kotzot D.

Am J Med Genet A. 2009 Nov;149A(11):2522-6. doi: 10.1002/ajmg.a.33058.

PMID:
19842202
26.

Whole genome amplification from microdissected chromosomes.

Höckner M, Erdel M, Spreiz A, Utermann G, Kotzot D.

Cytogenet Genome Res. 2009;125(2):98-102. doi: 10.1159/000227832. Epub 2009 Aug 31.

PMID:
19729911
27.

Refinement of the GINGF3 locus for hereditary gingival fibromatosis.

Pampel M, Maier S, Kreczy A, Weirich-Schwaiger H, Utermann G, Janecke AR.

Eur J Pediatr. 2010 Mar;169(3):327-32. doi: 10.1007/s00431-009-1034-9. Epub 2009 Jul 26.

28.

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

Miltenberger-Miltenyi G, Schwarzbraun T, Löscher WN, Wanschitz J, Windpassinger C, Duba HC, Seidl R, Albrecht G, Weirich-Schwaiger H, Zoller H, Utermann G, Auer-Grumbach M, Janecke AR.

Eur J Hum Genet. 2009 Sep;17(9):1154-9. doi: 10.1038/ejhg.2009.29. Epub 2009 Mar 4.

29.

Longitudinal cohort study on the effectiveness of lipid apheresis treatment to reduce high lipoprotein(a) levels and prevent major adverse coronary events.

Jaeger BR, Richter Y, Nagel D, Heigl F, Vogt A, Roeseler E, Parhofer K, Ramlow W, Koch M, Utermann G, Labarrere CA, Seidel D; Group of Clinical Investigators.

Nat Clin Pract Cardiovasc Med. 2009 Mar;6(3):229-39. doi: 10.1038/ncpcardio1456.

PMID:
19234501
30.

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.

Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR.

Am J Hum Genet. 2009 Feb;84(2):188-96. doi: 10.1016/j.ajhg.2009.01.004. Epub 2009 Jan 29.

31.

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.

Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Röllinghoff B, Köhler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR.

Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24.

PMID:
18724368
32.

Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy woman.

Höckner M, Utermann B, Erdel M, Fauth C, Utermann G, Kotzot D.

Am J Med Genet A. 2008 Apr 1;146A(7):925-9. doi: 10.1002/ajmg.a.32251.

PMID:
18302251
33.

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G.

J Med Genet. 2008 Apr;45(4):200-9. Epub 2007 Oct 26.

PMID:
17965227
34.

Tracing genetic history of modern humans using X-chromosome lineages.

Yotova V, Lefebvre JF, Kohany O, Jurka J, Michalski R, Modiano D, Utermann G, Williams SM, Labuda D.

Hum Genet. 2007 Dec;122(5):431-43. Epub 2007 Aug 7.

PMID:
17680273
35.

Sample selection algorithm to improve quality of genotyping from plasma-derived DNA: to separate the wheat from the chaff.

Schoenborn V, Gohlke H, Heid IM, Illig T, Utermann G, Kronenberg F.

Hum Mutat. 2007 Nov;28(11):1141-9.

PMID:
17614297
36.

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A.

Invest Ophthalmol Vis Sci. 2007 Apr;48(4):1824-31.

PMID:
17389517
37.

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.

Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M.

Eur J Hum Genet. 2007 Feb;15(2):179-84. Epub 2006 Dec 13.

38.

A new, X-linked endothelial corneal dystrophy.

Schmid E, Lisch W, Philipp W, Lechner S, Göttinger W, Schlötzer-Schrehardt U, Müller T, Utermann G, Janecke AR.

Am J Ophthalmol. 2006 Mar;141(3):478-487.

PMID:
16490493
39.

Mutation spectrum of type I glycogen storage disease in Hungary.

Miltenberger-Miltenyi G, Szonyi L, Balogh L, Utermann G, Janecke AR.

J Inherit Metab Dis. 2005;28(6):939-44.

PMID:
16435186
40.

Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome.

Haberlandt E, Svejda C, Felber S, Baumgartner S, Günther B, Utermann G, Kotzot D.

Am J Med Genet A. 2006 Feb 1;140(3):281-3.

PMID:
16411202
41.

Low incidence of mutations in EGFR kinase domain in Caucasian patients with head and neck squamous cell carcinoma.

Loeffler-Ragg J, Witsch-Baumgartner M, Tzankov A, Hilbe W, Schwentner I, Sprinzl GM, Utermann G, Zwierzina H.

Eur J Cancer. 2006 Jan;42(1):109-11. Epub 2005 Dec 1.

PMID:
16324836
42.

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A.

Hum Mol Genet. 2005 Dec 15;14(24):3865-75. Epub 2005 Nov 3. Erratum in: Hum Mol Genet. 2006 May 1;15(9):1559.

PMID:
16269441
43.

Genetics of the Lp(a)/apo(a) system in an autochthonous Black African population from the Gabon.

Schmidt K, Kraft HG, Parson W, Utermann G.

Eur J Hum Genet. 2006 Feb;14(2):190-201.

44.

Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.

Kotzot D, Utermann G.

Am J Med Genet A. 2005 Jul 30;136(3):287-305.

PMID:
15957160
45.

Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl.

Kotzot D, Haberlandt E, Fauth C, Baumgartner S, Scholl-Bürgi S, Utermann G.

Am J Med Genet A. 2005 Jun 15;135(3):304-7. Review.

PMID:
15887269
46.

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley RI, Krajewska-Walasek M, Lechner S, Rossi M, Zschocke J, Utermann G.

Hum Mutat. 2005 Apr;25(4):412.

PMID:
15776424
47.

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.

Janecke AR, Hennies HC, Günther B, Gansl G, Smolle J, Messmer EM, Utermann G, Rittinger O.

Am J Med Genet A. 2005 Mar 1;133A(2):128-31.

PMID:
15633193
48.

A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a).

Parson W, Kraft HG, Niederstätter H, Lingenhel AW, Köchl S, Fresser F, Utermann G.

Hum Mutat. 2004 Dec;24(6):474-80.

PMID:
15523644
49.

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

Ciara E, Nowaczyk MJ, Witsch-Baumgartner M, Malunowicz E, Popowska E, Jezela-Stanek A, Piotrowicz M, Waye JS, Utermann G, Krajewska-Walasek M.

Clin Genet. 2004 Dec;66(6):517-24.

PMID:
15521979
50.

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

Witsch-Baumgartner M, Gruber M, Kraft HG, Rossi M, Clayton P, Giros M, Haas D, Kelley RI, Krajewska-Walasek M, Utermann G.

J Med Genet. 2004 Aug;41(8):577-84.

Supplemental Content

Loading ...
Support Center