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Results: 1 to 20 of 171

1.

Distribution of segmental duplications in the context of higher order chromatin organisation of human chromosome 7.

Ebert G, Steininger A, Weißmann R, Boldt V, Lind-Thomsen A, Grune J, Badelt S, Heßler M, Peiser M, Hitzler M, Jensen LR, Müller I, Hu H, Arndt PF, Kuss AW, Tebel K, Ullmann R.

BMC Genomics. 2014 Jun 29;15:537. doi: 10.1186/1471-2164-15-537.

PMID:
24973960
[PubMed - in process]
Free Article
2.

Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.

Bhagavath B, Layman LC, Ullmann R, Shen Y, Ha K, Rehman K, Looney S, McDonough PG, Kim HG, Carr BR.

Mol Cell Endocrinol. 2014 Jun 4;393(1-2):1-7. doi: 10.1016/j.mce.2014.05.006. [Epub ahead of print]

PMID:
24907458
[PubMed - as supplied by publisher]
3.

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

Thorwarth A, Schnittert-Hübener S, Schrumpf P, Müller I, Jyrch S, Dame C, Biebermann H, Kleinau G, Katchanov J, Schuelke M, Ebert G, Steininger A, Bönnemann C, Brockmann K, Christen HJ, Crock P, deZegher F, Griese M, Hewitt J, Ivarsson S, Hübner C, Kapelari K, Plecko B, Rating D, Stoeva I, Ropers HH, Grüters A, Ullmann R, Krude H.

J Med Genet. 2014 Jun;51(6):375-87. doi: 10.1136/jmedgenet-2013-102248. Epub 2014 Apr 8.

PMID:
24714694
[PubMed - in process]
4.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Møller RS, Jensen LR, Maas SM, Filmus J, Capurro M, Hansen C, Marcelis CL, Ravn K, Andrieux J, Mathieu M, Kirchhoff M, Rødningen OK, de Leeuw N, Yntema HG, Froyen G, Vandewalle J, Ballon K, Klopocki E, Joss S, Tolmie J, Knegt AC, Lund AM, Hjalgrim H, Kuss AW, Tommerup N, Ullmann R, de Brouwer AP, Strømme P, Kjaergaard S, Tümer Z, Kleefstra T.

Hum Genet. 2014 May;133(5):625-38. doi: 10.1007/s00439-013-1403-3. Epub 2013 Dec 11.

PMID:
24326587
[PubMed - indexed for MEDLINE]
5.

Copy number genome alterations are associated with treatment response and outcome in relapsed childhood ETV6/RUNX1-positive acute lymphoblastic leukemia.

Bokemeyer A, Eckert C, Meyr F, Koerner G, von Stackelberg A, Ullmann R, Türkmen S, Henze G, Seeger K.

Haematologica. 2014 Apr;99(4):706-14. doi: 10.3324/haematol.2012.072470. Epub 2013 Nov 15.

PMID:
24241490
[PubMed - in process]
Free PMC Article
6.

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.

Gilling M, Rasmussen HB, Calloe K, Sequeira AF, Baretto M, Oliveira G, Almeida J, Lauritsen MB, Ullmann R, Boonen SE, Brondum-Nielsen K, Kalscheuer VM, Tümer Z, Vicente AM, Schmitt N, Tommerup N.

Front Genet. 2013 Apr 16;4:54. doi: 10.3389/fgene.2013.00054. eCollection 2013.

PMID:
23596459
[PubMed]
Free PMC Article
7.

Breakpoint characterization of the der(19)t(11;19)(q13;p13) in the ovarian cancer cell line SKOV-3.

Onkes W, Fredrik R, Micci F, Schönbeck BJ, Martin-Subero JI, Ullmann R, Hilpert F, Bräutigam K, Janssen O, Maass N, Siebert R, Heim S, Arnold N, Weimer J.

Genes Chromosomes Cancer. 2013 May;52(5):512-22. doi: 10.1002/gcc.22048. Epub 2013 Jan 30.

PMID:
23362175
[PubMed - indexed for MEDLINE]
8.

Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.

Kunde SA, Rademacher N, Tzschach A, Wiedersberg E, Ullmann R, Kalscheuer VM, Shoichet SA.

Hum Genet. 2013 Apr;132(4):461-71. doi: 10.1007/s00439-012-1260-5. Epub 2013 Jan 18.

PMID:
23329067
[PubMed - indexed for MEDLINE]
9.

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.

Rump A, Hildebrand L, Tzschach A, Ullmann R, Schrock E, Mitter D.

Eur J Hum Genet. 2013 Aug;21(8):887-90. doi: 10.1038/ejhg.2012.267. Epub 2012 Dec 12.

PMID:
23232695
[PubMed - indexed for MEDLINE]
10.

Thermodynamics of transport through the ammonium transporter Amt-1 investigated with free energy calculations.

Ullmann RT, Andrade SL, Ullmann GM.

J Phys Chem B. 2012 Aug 16;116(32):9690-703. doi: 10.1021/jp305440f. Epub 2012 Aug 3.

PMID:
22804733
[PubMed - indexed for MEDLINE]
11.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, MacDonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF.

Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012.05.005. Epub 2012 Jul 5.

PMID:
22770980
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

An acetylation switch regulates SUMO-dependent protein interaction networks.

Ullmann R, Chien CD, Avantaggiati ML, Muller S.

Mol Cell. 2012 Jun 29;46(6):759-70. doi: 10.1016/j.molcel.2012.04.006. Epub 2012 May 10.

PMID:
22578841
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Two-dimensional modeling of transient gain gratings in saturable gain media.

Elsner R, Ullmann R, Heuer A, Menzel R, Ostermeyer M.

Opt Express. 2012 Mar 26;20(7):6887-96. doi: 10.1364/OE.20.006887.

PMID:
22453366
[PubMed - indexed for MEDLINE]
14.

GMCT : a Monte Carlo simulation package for macromolecular receptors.

Ullmann RT, Ullmann GM.

J Comput Chem. 2012 Mar 30;33(8):887-900. doi: 10.1002/jcc.22919. Epub 2012 Jan 25.

PMID:
22278916
[PubMed - indexed for MEDLINE]
15.

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.

Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Møller LB, Kaler SG, Gärtner J.

Am J Hum Genet. 2012 Jan 13;90(1):61-8. doi: 10.1016/j.ajhg.2011.11.030. Erratum in: Am J Hum Genet. 2012 Feb 10;90(2):378.

PMID:
22243965
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Pomegranate seed oil in women with menopausal symptoms: a prospective randomized, placebo-controlled, double-blinded trial.

Auerbach L, Rakus J, Bauer C, Gerner C, Ullmann R, Wimmer H, Huber J.

Menopause. 2012 Apr;19(4):426-32. doi: 10.1097/gme.0b013e3182345b2f.

PMID:
22240636
[PubMed - indexed for MEDLINE]
17.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH.

Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423.

PMID:
21937992
[PubMed - indexed for MEDLINE]
18.

Christianson syndrome in a patient with an interstitial Xq26.3 deletion.

Tzschach A, Ullmann R, Ahmed A, Martin T, Weber G, Decker-Schwering O, Pauly F, Shamdeen MG, Reith W, Oehl-Jaschkowitz B.

Am J Med Genet A. 2011 Nov;155A(11):2771-4. doi: 10.1002/ajmg.a.34230. Epub 2011 Sep 19.

PMID:
21932316
[PubMed - indexed for MEDLINE]
19.

Chromosomal aberrations as detected by array comparative genomic hybridization in early low-grade intraepithelial neoplasias of the breast.

Stacher E, Boldt V, Leibl S, Halbwedl I, Popper HH, Ullmann R, Tavassoli FA, Moinfar F.

Histopathology. 2011 Sep;59(3):549-55. doi: 10.1111/j.1365-2559.2011.03918.x. Epub 2011 Sep 10.

PMID:
21906127
[PubMed - indexed for MEDLINE]
20.

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.

Kariminejad R, Lind-Thomsen A, Tümer Z, Erdogan F, Ropers HH, Tommerup N, Ullmann R, Møller RS.

Hum Mutat. 2011 Dec;32(12):1427-35. doi: 10.1002/humu.21585. Epub 2011 Sep 23.

PMID:
21882292
[PubMed - indexed for MEDLINE]

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