Breuning MH - Search Results

1

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.

Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Rao E, et al. Among authors: breuning mh. Nat Genet. 1997 May;16(1):54-63. doi: 10.1038/ng0597-54. Nat Genet. 1997. PMID: 9140395

2

Position effect on PLP1 may cause a subset of Pelizaeus-Merzbacher disease symptoms.

Muncke N, Wogatzky BS, Breuning M, Sistermans EA, Endris V, Ross M, Vetrie D, Catsman-Berrevoets CE, Rappold G. Muncke N, et al. J Med Genet. 2004 Dec;41(12):e121. doi: 10.1136/jmg.2004.019141. J Med Genet. 2004. PMID: 15591263 Free PMC article. No abstract available.

3

Deletion and duplication screening in the DMD gene using MLPA.

Lalic T, Vossen RH, Coffa J, Schouten JP, Guc-Scekic M, Radivojevic D, Djurisic M, Breuning MH, White SJ, den Dunnen JT. Lalic T, et al. Among authors: breuning mh. Eur J Hum Genet. 2005 Nov;13(11):1231-4. doi: 10.1038/sj.ejhg.5201465. Eur J Hum Genet. 2005. PMID: 16030524

4

Methods to detect CNVs in the human genome.

Aten E, White SJ, Kalf ME, Vossen RH, Thygesen HH, Ruivenkamp CA, Kriek M, Breuning MH, den Dunnen JT. Aten E, et al. Among authors: breuning mh. Cytogenet Genome Res. 2008;123(1-4):313-21. doi: 10.1159/000184723. Epub 2009 Mar 11. Cytogenet Genome Res. 2008. PMID: 19287170

5

Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.

Breuning MH, Oranje AP, Langemeijer RA, Hovius SE, Diepstraten AF, den Hollander JC, Baumgartner N, Dwek JR, Sommer A, Toriello H. Breuning MH, et al. Am J Med Genet. 2000 Sep 11;94(2):91-101. doi: 10.1002/1096-8628(20000911)94:2<91::aid-ajmg1>3.0.co;2-d. Am J Med Genet. 2000. PMID: 10982965

6

The genome: you gain some, you lose some.

Breuning MH. Breuning MH. Eur J Hum Genet. 2008 Jun;16(6):663. doi: 10.1038/ejhg.2008.54. Epub 2008 Mar 12. Eur J Hum Genet. 2008. PMID: 18337724 No abstract available.

7

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.

van der Linde IHM, Hiemstra YL, Bökenkamp R, van Mil AM, Breuning MH, Ruivenkamp C, Ten Broeke SW, Veldkamp RF, van Waning JI, van Slegtenhorst MA, van Spaendonck-Zwarts KY, Lekanne Deprez RH, Herkert JC, Boven L, van der Zwaag PA, Jongbloed JDH, Bootsma M, Barge-Schaapveld DQCM. van der Linde IHM, et al. Among authors: breuning mh. Neth Heart J. 2017 Dec;25(12):675-681. doi: 10.1007/s12471-017-1037-5. Epub 2017 Sep 1. Neth Heart J. 2017. PMID: 28864942 Free PMC article.

8

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM. Pierrache LHM, et al. Among authors: breuning mh. Ophthalmology. 2017 Jul;124(7):992-1003. doi: 10.1016/j.ophtha.2017.03.010. Epub 2017 Apr 13. Ophthalmology. 2017. PMID: 28412069 Free PMC article.

9

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, Verhoeven VJ, Pott JW, Sallevelt SC, van Hagen JM, Plomp AS, Kroes HY, Lelieveld SH, Hehir-Kwa JY, Castelein S, Nelen M, Scheffer H, Lugtenberg D, Cremers FP, Hoefsloot L, Yntema HG. Haer-Wigman L, et al. Among authors: breuning mh. Eur J Hum Genet. 2017 May;25(5):591-599. doi: 10.1038/ejhg.2017.9. Epub 2017 Feb 22. Eur J Hum Genet. 2017. PMID: 28224992 Free PMC article.

10

Inhibition of Activin Signaling Slows Progression of Polycystic Kidney Disease.

Leonhard WN, Kunnen SJ, Plugge AJ, Pasternack A, Jianu SB, Veraar K, El Bouazzaoui F, Hoogaars WM, Ten Dijke P, Breuning MH, De Heer E, Ritvos O, Peters DJ. Leonhard WN, et al. Among authors: breuning mh. J Am Soc Nephrol. 2016 Dec;27(12):3589-3599. doi: 10.1681/ASN.2015030287. Epub 2016 Mar 28. J Am Soc Nephrol. 2016. PMID: 27020852 Free PMC article.

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