Brandau O - Search Results

1

Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.

Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, Laccone F. Steinkellner H, et al. Among authors: brandau o. Eur J Hum Genet. 2015 Sep;23(9):1186-91. doi: 10.1038/ejhg.2014.264. Epub 2014 Dec 3. Eur J Hum Genet. 2015. PMID: 25469541 Free PMC article.

2

De novo mutation of emopamil binding protein (EBP) gene in a girl with Conradi-Hünermann-Happle syndrome.

Soler-Cardona A, Brandau O, Laccone F, Tanew A, Radakovic S. Soler-Cardona A, et al. Among authors: brandau o. Clin Case Rep. 2019 Jun 28;7(8):1522-1525. doi: 10.1002/ccr3.2213. eCollection 2019 Aug. Clin Case Rep. 2019. PMID: 31428380 Free PMC article.

3

Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction.

Finsterer J, Stöllberger C, Brandau O, Laccone F, Bichler K, Laing NG. Finsterer J, et al. Among authors: brandau o. Int J Cardiol. 2014 May 15;173(3):532-5. doi: 10.1016/j.ijcard.2014.03.025. Epub 2014 Mar 15. Int J Cardiol. 2014. PMID: 24726209 No abstract available.

4

Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation.

Finsterer J, Brandau O, Stöllberger C, Wallefeld W, Laing NG, Laccone F. Finsterer J, et al. Among authors: brandau o. Neuromuscul Disord. 2014 Aug;24(8):721-5. doi: 10.1016/j.nmd.2014.05.010. Epub 2014 Jun 4. Neuromuscul Disord. 2014. PMID: 24953931

5

Painful nodules.

Valero T, Brandau O, Laccone F, Radakovic S. Valero T, et al. Among authors: brandau o. J Dtsch Dermatol Ges. 2016 Jun;14(6):627-629. doi: 10.1111/ddg.12923. J Dtsch Dermatol Ges. 2016. PMID: 27240081 No abstract available.

6

Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.

Shukla A, Hebbar M, Srivastava A, Kadavigere R, Upadhyai P, Kanthi A, Brandau O, Bielas S, Girisha KM. Shukla A, et al. Among authors: brandau o. J Hum Genet. 2017 Jul;62(7):723-727. doi: 10.1038/jhg.2017.35. Epub 2017 Mar 30. J Hum Genet. 2017. PMID: 28356563 Free PMC article.

7

Schmerzhafte Knoten.

Valero T, Brandau O, Laccone F, Radakovic S. Valero T, et al. Among authors: brandau o. J Dtsch Dermatol Ges. 2016 Jun;14(6):627-629. doi: 10.1111/ddg.12923_g. J Dtsch Dermatol Ges. 2016. PMID: 27240080 No abstract available.

8

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.

Bertoli-Avella AM, Garcia-Aznar JM, Brandau O, Al-Hakami F, Yüksel Z, Marais A, Grüning NM, Abbasi Moheb L, Paknia O, Alshaikh N, Alameer S, Marafi MJ, Al-Mulla F, Al-Sannaa N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: brandau o. Eur J Hum Genet. 2018 Apr;26(4):592-598. doi: 10.1038/s41431-018-0097-3. Epub 2018 Feb 15. Eur J Hum Genet. 2018. PMID: 29449720 Free PMC article.

9

A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.

Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L. Zombor M, et al. Among authors: brandau o. J Appl Genet. 2019 May;60(2):151-162. doi: 10.1007/s13353-019-00486-y. Epub 2019 Feb 1. J Appl Genet. 2019. PMID: 30706430 Review.

10

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R. Trujillano D, et al. Among authors: brandau o. Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848944 Free PMC article.

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