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Items: 43

1.

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.

Clin Case Rep. 2019 Jun 28;7(8):1522-1525. doi: 10.1002/ccr3.2213. eCollection 2019 Aug.

2.

Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.

Pandita S, Ramachandran V, Balakrishnan P, Rolfs A, Brandau O, Eichler S, Bhalla AK, Khullar D, Amitabh V, Ramanarayanan S, Kher V, Verma J, Kohli S, Saxena R, Verma IC.

J Hum Genet. 2019 May;64(5):409-419. doi: 10.1038/s10038-019-0582-8. Epub 2019 Feb 28.

PMID:
30816285
3.

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.

J Appl Genet. 2019 May;60(2):151-162. doi: 10.1007/s13353-019-00486-y. Epub 2019 Feb 1. Review.

PMID:
30706430
4.

Novel causative variants in patients with achromatopsia.

Abdelkader E, Brandau O, Bergmann C, AlSalamah N, Nowilaty S, Schatz P.

Ophthalmic Genet. 2018 Dec;39(6):678-683. doi: 10.1080/13816810.2018.1522653. Epub 2018 Oct 5.

PMID:
30289319
5.

HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients.

Kovacs-Nagy R, Morin G, Nouri MA, Brandau O, Saadi NW, Nouri MA, van den Broek F, Prokisch H, Mayr JA, Wortmann SB.

Neuropediatrics. 2018 Dec;49(6):373-378. doi: 10.1055/s-0038-1667345. Epub 2018 Aug 16.

PMID:
30114719
6.

A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children.

Yavuz H, Bertoli-Avella AM, Alfadhel M, Al-Sannaa N, Kandaswamy KK, Al-Tuwaijri W, Rolfs A, Brandau O, Bauer P.

Clin Genet. 2018 Oct;94(3-4):393-395. doi: 10.1111/cge.13386. Epub 2018 Jul 30.

PMID:
30059600
7.

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.

Ratnasamy V, Navaneethakrishnan S, Sirisena ND, Grüning NM, Brandau O, Thirunavukarasu K, Dagnall CL, McReynolds LJ, Savage SA, Dissanayake VHW.

BMC Med Genet. 2018 May 25;19(1):85. doi: 10.1186/s12881-018-0584-y.

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.

Eur J Hum Genet. 2018 Apr;26(4):592-598. doi: 10.1038/s41431-018-0097-3. Epub 2018 Feb 15.

9.

Expanding the clinical and genetic spectra of NKX6-2-related disorder.

Baldi C, Bertoli-Avella AM, Al-Sannaa N, Alfadhel M, Al-Thihli K, Alameer S, Elmonairy AA, Al Shamsi AM, Abdelrahman HA, Al-Gazali L, Shawli A, Al-Hakami F, Yavuz H, Kandaswamy KK, Rolfs A, Brandau O, Bauer P.

Clin Genet. 2018 May;93(5):1087-1092. doi: 10.1111/cge.13221.

PMID:
29388673
10.

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.

Cozma C, Iurașcu MI, Eichler S, Hovakimyan M, Brandau O, Zielke S, Böttcher T, Giese AK, Lukas J, Rolfs A.

Sci Rep. 2017 Jul 21;7(1):6149. doi: 10.1038/s41598-017-06604-2.

11.

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.

J Hum Genet. 2017 Jul;62(7):723-727. doi: 10.1038/jhg.2017.35. Epub 2017 Mar 30.

12.

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.

Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16.

13.

Painful nodules.

Valero T, Brandau O, Laccone F, Radakovic S.

J Dtsch Dermatol Ges. 2016 Jun;14(6):627-629. doi: 10.1111/ddg.12923. No abstract available.

PMID:
27240081
14.

Schmerzhafte Knoten.

Valero T, Brandau O, Laccone F, Radakovic S.

J Dtsch Dermatol Ges. 2016 Jun;14(6):627-629. doi: 10.1111/ddg.12923_g. No abstract available.

PMID:
27240080
15.

A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.

Bastaki F, Mohamed M, Nair P, Saif F, Tawfiq N, Al-Ali MT, Brandau O, Hamzeh AR.

Mol Cell Probes. 2016 Feb;30(1):18-21. doi: 10.1016/j.mcp.2015.11.005. Epub 2015 Nov 26.

PMID:
26631803
16.

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.

Eur J Hum Genet. 2015 Sep;23(9):1186-91. doi: 10.1038/ejhg.2014.264. Epub 2014 Dec 3.

17.

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.

Neuromuscul Disord. 2014 Aug;24(8):721-5. doi: 10.1016/j.nmd.2014.05.010. Epub 2014 Jun 4.

PMID:
24953931
18.

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.

Int J Cardiol. 2014 May 15;173(3):532-5. doi: 10.1016/j.ijcard.2014.03.025. Epub 2014 Mar 15. No abstract available.

PMID:
24726209
19.

Amniotic fluid stem cells to study mTOR signaling in differentiation.

Rosner M, Schipany K, Shanmugasundaram B, Lubec G, Brandau O, Hengstschläger M.

Organogenesis. 2012 Jul-Sep;8(3):96-100. doi: 10.4161/org.22038. Epub 2012 Jul 1. Review.

20.

Amniotic fluid stem cell-based models to study the effects of gene mutations and toxicants on male germ cell formation.

Gundacker C, Dolznig H, Mikula M, Rosner M, Brandau O, Hengstschläger M.

Asian J Androl. 2012 Mar;14(2):247-50. doi: 10.1038/aja.2011.170. Epub 2012 Jan 9. Review.

21.

Human amniotic fluid stem cells as a model for functional studies of genes involved in human genetic diseases or oncogenesis.

Rosner M, Dolznig H, Schipany K, Mikula M, Brandau O, Hengstschläger M.

Oncotarget. 2011 Sep;2(9):705-12.

22.

Complete loss of murine Xin results in a mild cardiac phenotype with altered distribution of intercalated discs.

Otten J, van der Ven PF, Vakeel P, Eulitz S, Kirfel G, Brandau O, Boesl M, Schrickel JW, Linhart M, Hayess K, Naya FJ, Milting H, Meyer R, Fürst DO.

Cardiovasc Res. 2010 Mar 1;85(4):739-50. doi: 10.1093/cvr/cvp345. Epub 2009 Oct 19.

PMID:
19843512
23.

Murine CXCL14 is dispensable for dendritic cell function and localization within peripheral tissues.

Meuter S, Schaerli P, Roos RS, Brandau O, Bösl MR, von Andrian UH, Moser B.

Mol Cell Biol. 2007 Feb;27(3):983-92. Epub 2006 Nov 27.

24.

ESAM supports neutrophil extravasation, activation of Rho, and VEGF-induced vascular permeability.

Wegmann F, Petri B, Khandoga AG, Moser C, Khandoga A, Volkery S, Li H, Nasdala I, Brandau O, Fässler R, Butz S, Krombach F, Vestweber D.

J Exp Med. 2006 Jul 10;203(7):1671-7. Epub 2006 Jul 3.

25.

Tenomodulin is necessary for tenocyte proliferation and tendon maturation.

Docheva D, Hunziker EB, Fässler R, Brandau O.

Mol Cell Biol. 2005 Jan;25(2):699-705.

26.

The murine Ten-m/Odz genes show distinct but overlapping expression patterns during development and in adult brain.

Zhou XH, Brandau O, Feng K, Oohashi T, Ninomiya Y, Rauch U, Fässler R.

Gene Expr Patterns. 2003 Aug;3(4):397-405.

PMID:
12915301
27.

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.

Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63.

PMID:
12657579
28.

PINCH2 is a new five LIM domain protein, homologous to PINCHand localized to focal adhesions.

Braun A, Bordoy R, Stanchi F, Moser M, Kostka G G, Ehler E, Brandau O, Fässler R.

Exp Cell Res. 2003 Apr 1;284(2):239-50.

PMID:
12651156
29.

Chondromodulin I is dispensable during enchondral ossification and eye development.

Brandau O, Aszódi A, Hunziker EB, Neame PJ, Vestweber D, Fässler R.

Mol Cell Biol. 2002 Sep;22(18):6627-35.

30.

An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.

Thiselton DL, McDowall J, Brandau O, Ramser J, d'Esposito F, Bhattacharya SS, Ross MT, Hardcastle AJ, Meindl A.

Genomics. 2002 Apr;79(4):560-72. Erratum in: Genomics 2002 Jun;79(6):891.

PMID:
11944989
31.

Genomic organization of profilin-III and evidence for a transcript expressed exclusively in testis.

Braun A, Aszódi A, Hellebrand H, Berna A, Fässler R, Brandau O.

Gene. 2002 Jan 23;283(1-2):219-25.

PMID:
11867228
32.
33.

Stage-and tissue-specific expression of a Col2a1-Cre fusion gene in transgenic mice.

Sakai K, Hiripi L, Glumoff V, Brandau O, Eerola R, Vuorio E, Bösze Z, Fässler R, Aszódi A.

Matrix Biol. 2001 Jan;19(8):761-7.

PMID:
11223335
34.

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.

Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A.

Nat Genet. 2000 Nov;26(3):324-7.

PMID:
11062472
35.

Recurrent B-cell non-Hodgkin's lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection.

Strahm B, Rittweiler K, Duffner U, Brandau O, Orlowska-Volk M, Karajannis MA, Stadt Uz, Tiemann M, Reiter A, Brandis M, Meindl A, Niemeyer CM.

Br J Haematol. 2000 Feb;108(2):377-82.

PMID:
10691868
36.

A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.

Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrié A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J.

Nat Genet. 2000 Feb;24(2):167-70.

PMID:
10655063
37.

Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).

Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, Meindl A.

Hum Mol Genet. 1999 Dec;8(13):2407-13.

PMID:
10556288
38.

UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1-p11.2.

Brandau O, Nyakatura G, Jedele KB, Platzer M, Achatz H, Ross M, Murken J, Rosenthal A, Meindl A.

Eur J Hum Genet. 1998 Sep-Oct;6(5):459-66.

39.

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.

Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP, Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E, Shaw-Smith CJ, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, Sylla B, Zollo M, Franco B, Bolino A, Seri M, Lanyi A, Davis JR, Webster D, Harris A, Lenoir G, de St Basile G, Jones A, Behloradsky BH, Achatz H, Murken J, Fassler R, Sumegi J, Romeo G, Vaudin M, Ross MT, Meindl A, Bentley DR.

Nat Genet. 1998 Oct;20(2):129-35.

PMID:
9771704
40.

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

Vihinen M, Brandau O, Brandén LJ, Kwan SP, Lappalainen I, Lester T, Noordzij JG, Ochs HD, Ollila J, Pienaar SM, Riikonen P, Saha BK, Smith CI.

Nucleic Acids Res. 1998 Jan 1;26(1):242-7.

41.

Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.

Holinski-Feder E, Weiss M, Brandau O, Jedele KB, Nore B, Bäckesjö CM, Vihinen M, Hubbard SR, Belohradsky BH, Smith CI, Meindl A.

Pediatrics. 1998 Feb;101(2):276-84.

PMID:
9445504
42.

Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.

Francis F, Strom TM, Hennig S, Böddrich A, Lorenz B, Brandau O, Mohnike KL, Cagnoli M, Steffens C, Klages S, Borzym K, Pohl T, Oudet C, Econs MJ, Rowe PS, Reinhardt R, Meitinger T, Lehrach H.

Genome Res. 1997 Jun;7(6):573-85. No abstract available.

43.

Influence of SOD, catalase, and epoprostenol on 24-hour liver preservation in pigs.

Lemmens HP, Schön MR, Blumhardt G, Filler D, Brandau O, Meissler M, Baer P, von Baehr R, Neuhaus P.

Transplant Proc. 1993 Aug;25(4):2549-53. No abstract available.

PMID:
8356665

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