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Items: 1 to 20 of 332

1.

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE; DOOFNL Consortium, Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H.

Am J Hum Genet. 2018 Jul 5;103(1):74-88. doi: 10.1016/j.ajhg.2018.05.011. Epub 2018 Jun 28.

PMID:
29961571
2.

Usherin defects lead to early-onset retinal dysfunction in zebrafish.

Dona M, Slijkerman R, Lerner K, Broekman S, Wegner J, Howat T, Peters T, Hetterschijt L, Boon N, de Vrieze E, Sorusch N, Wolfrum U, Kremer H, Neuhauss S, Zang J, Kamermans M, Westerfield M, Phillips J, van Wijk E.

Exp Eye Res. 2018 Aug;173:148-159. doi: 10.1016/j.exer.2018.05.015. Epub 2018 May 16.

PMID:
29777677
3.

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.

Wesdorp M, de Koning Gans PAM, Schraders M, Oostrik J, Huynen MA, Venselaar H, Beynon AJ, van Gaalen J, Piai V, Voermans N, van Rossum MM, Hartel BP, Lelieveld SH, Wiel L, Verbist B, Rotteveel LJ, van Dooren MF, Lichtner P, Kunst HPM, Feenstra I, Admiraal RJC; DOOFNL Consortium, Yntema HG, Hoefsloot LH, Pennings RJE, Kremer H.

Hum Genet. 2018 May 12. doi: 10.1007/s00439-018-1880-5. [Epub ahead of print]

4.

Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.

Wesdorp M, Schreur V, Beynon AJ, Oostrik J, van de Kamp JM, Elting MW, van den Boogaard MH, Feenstra I, Admiraal RJC, Kunst HPM, Hoyng CB, Kremer H, Yntema HG, Pennings RJE, Schraders M.

Clin Genet. 2018 Aug;94(2):221-231. doi: 10.1111/cge.13368. Epub 2018 Jun 8.

PMID:
29676012
5.

Mesenchymal stromal/stem cells as potential therapy in diabetic retinopathy.

Fiori A, Terlizzi V, Kremer H, Gebauer J, Hammes HP, Harmsen MC, Bieback K.

Immunobiology. 2018 Feb 2. pii: S0171-2985(18)30001-9. doi: 10.1016/j.imbio.2018.01.001. [Epub ahead of print] Review.

PMID:
29402461
6.

Trends in discharges from the HIV/AIDS ward at a tertiary Canadian Hospital from 2005 to 2014.

Jaworsky D, Phillips P, Cui Z, Chau W, Colley G, Dutta R, Yip B, Kremer H, Eyawo O, Montaner JS, Hull MW.

AIDS Care. 2018 Sep;30(9):1099-1106. doi: 10.1080/09540121.2018.1434121. Epub 2018 Feb 4.

PMID:
29397766
7.

Psychological impact of a genetic diagnosis on hearing impairment-An exploratory study.

Oonk AMM, Ariens S, Kunst HPM, Admiraal RJC, Kremer H, Pennings RJE.

Clin Otolaryngol. 2018 Feb;43(1):47-54. doi: 10.1111/coa.12908. Epub 2017 Jun 26.

PMID:
28556609
8.

Out-of-hospital cardiac arrest survivors sent for emergency angiography: a clinical score for predicting acute myocardial infarction.

Zeyons F, Jesel L, Morel O, Kremer H, Messas N, Hess S, Crimizade U, Reydel P, Tritsch L, Ohlmann P.

Eur Heart J Acute Cardiovasc Care. 2017 Mar;6(2):103-111. doi: 10.1177/2048872616683525. Epub 2016 Dec 20.

PMID:
28304194
9.

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.

Wesdorp M, van de Kamp JM, Hensen EF, Schraders M, Oostrik J, Yntema HG, Feenstra I, Admiraal RJC, Kunst HPM, Tekin M, Kanaan M, Kremer H, Pennings RJE.

Hear Res. 2017 Apr;347:56-62. doi: 10.1016/j.heares.2016.12.017. Epub 2017 Jan 12.

PMID:
28089734
10.

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

Zazo Seco C, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SA, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S.

Dis Model Mech. 2017 Feb 1;10(2):105-118. doi: 10.1242/dmm.026476. Epub 2016 Dec 15.

11.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

Zazo Seco C, Wesdorp M, Feenstra I, Pfundt R, Hehir-Kwa JY, Lelieveld SH, Castelein S, Gilissen C, de Wijs IJ, Admiraal RJ, Pennings RJ, Kunst HP, van de Kamp JM, Tamminga S, Houweling AC, Plomp AS, Maas SM, de Koning Gans PA, Kant SG, de Geus CM, Frints SG, Vanhoutte EK, van Dooren MF, van den Boogaard MH, Scheffer H, Nelen M, Kremer H, Hoefsloot L, Schraders M, Yntema HG.

Eur J Hum Genet. 2017 Feb;25(3):308-314. doi: 10.1038/ejhg.2016.182. Epub 2016 Dec 21.

12.

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.

Slijkerman RW, Vaché C, Dona M, García-García G, Claustres M, Hetterschijt L, Peters TA, Hartel BP, Pennings RJ, Millan JM, Aller E, Garanto A, Collin RW, Kremer H, Roux AF, Van Wijk E.

Mol Ther Nucleic Acids. 2016 Nov 1;5(10):e381. doi: 10.1038/mtna.2016.89.

13.

Biventricular Takotsubo cardiomyopathy and "eclipsed" tricuspid regurgitation: insights from contrast right ventriculography.

Messas N, Morel O, Collange O, Kremer H, Jesel L, Ohlmann P.

EuroIntervention. 2016 Oct 10;12(8):e1072. doi: 10.4244/EIJV12I8A174. No abstract available.

14.

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

Hartel BP, Löfgren M, Huygen PL, Guchelaar I, Lo-A-Njoe Kort N, Sadeghi AM, van Wijk E, Tranebjærg L, Kremer H, Kimberling WJ, Cremers CW, Möller C, Pennings RJ.

Hear Res. 2016 Sep;339:60-8. doi: 10.1016/j.heares.2016.06.008. Epub 2016 Jun 16.

PMID:
27318125
15.

Impact of Prosthesis-Patient Mismatch on Long-term Functional Capacity After Mechanical Aortic Valve Replacement.

Petit-Eisenmann H, Epailly E, Velten M, Radojevic J, Eisenmann B, Kremer H, Kindo M.

Can J Cardiol. 2016 Dec;32(12):1493-1499. doi: 10.1016/j.cjca.2016.02.076. Epub 2016 Mar 8.

PMID:
27297001
16.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R; UK10K Rare Diseases Group.

Nat Commun. 2016 May 13;7:11491. doi: 10.1038/ncomms11491.

17.

Relationship Between Spiritual Coping and Survival in Patients with HIV.

Ironson G, Kremer H, Lucette A.

J Gen Intern Med. 2016 Sep;31(9):1068-76. doi: 10.1007/s11606-016-3668-4. Epub 2016 May 5.

18.

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE.

Genome Biol. 2015 Dec 29;16:293. doi: 10.1186/s13059-015-0858-z.

19.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

Zazo Seco C, Serrão de Castro L, van Nierop JW, Morín M, Jhangiani S, Verver EJ, Schraders M, Maiwald N, Wesdorp M, Venselaar H, Spruijt L, Oostrik J, Schoots J; Baylor-Hopkins Center for Mendelian Genomics, van Reeuwijk J, Lelieveld SH, Huygen PL, Insenser M, Admiraal RJ, Pennings RJ, Hoefsloot LH, Arias-Vásquez A, de Ligt J, Yntema HG, Jansen JH, Muzny DM, Huls G, van Rossum MM, Lupski JR, Moreno-Pelayo MA, Kunst HP, Kremer H.

Am J Hum Genet. 2015 Nov 5;97(5):647-60. doi: 10.1016/j.ajhg.2015.09.011. Epub 2015 Oct 29.

20.

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.

Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SE, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, Moens CB, Neuhauss SC, Kremer H, van Wijk E.

PLoS Genet. 2015 Oct 20;11(10):e1005575. doi: 10.1371/journal.pgen.1005575. eCollection 2015 Oct.

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