Research ExplorerScientific StaffIsabella Rau Publications

Dr.rer.nat. ID: 34894

Isabella Rau

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Publications

  1. 2021

  2. Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

    Kloth, K., Neu, A., Rau, I., Hülsemann, W., Kutsche, K. & Volk, A. E., 03.2021, In: EUR J MED GENET. 64, 3, 104161.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

    Nayak, S. S., Schneeberger, P. E., Patil, S. J., Arun, K. M., Suresh, P. V., Kiran, V. S., Siddaiah, S., Maiya, S., Venkatachalagupta, S. K., Kausthubham, N., Kortüm, F., Rau, I., Wey-Fabrizius, A., Van Den Heuvel, L., Meester, J., Van Laer, L., Shukla, A., Loeys, B., Girisha, K. M. & Kutsche, K., 12.01.2021, In: SCI REP-UK. 11, 1, 764.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. 2020

  5. Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

    Kloth, K., Vater, I., Lindschau, R., Rau, I., Caliebe, A. & Muschol, N. M., 12.2020, In: MOL GENET METAB REP. 25, 100660.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. 2019

  7. Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

    Renner, S., Schüler, H., Alawi, M., Kolbe, V., Rybczynski, M., Woitschach, R., Sheikhzadeh, S., Stark, V. C., Olfe, J., Roser, E., Seggewies, F. S., Mahlmann, A., Hempel, M., Hartmann, M. J., Hillebrand, M., Wieczorek, D., Volk, A. E., Kloth, K., Koch-Hogrebe, M., Abou Jamra, R., Mitter, D., Altmüller, J., Wey-Fabrizius, A., Petersen, C., Rau, I., Borck, G., Kubisch, C., Mir, T. S., von Kodolitsch, Y., Kutsche, K. & Rosenberger, G., 08.2019, In: GENET MED. 21, 8, p. 1832-1841 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. 2016

  9. Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon

    Dunkl, V., Rau, I., Wunderlich, G., Fink, G. R. & Lehmann, H. C., 15.08.2016, In: J NEUROL SCI. 367, p. 81-2 2 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  10. 2014

  11. Clinical spectrum of females with HCCS Mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

    van Rahden, V. A., Rau, I., Fuchs, S., Kosyna, F. K., de Almeida, H. L., Fryssira, H., Isidor, B., Jauch, A., Joubert, M., Lachmeijer, A. M. A., Zweier, C., Moog, U. & Kutsche, K., 01.01.2014, In: ORPHANET J RARE DIS. 9, 1, p. 53

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  12. 2013

  13. Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.

    Piña-Aguilar, R. E., Zaragoza-Arévalo, G. R., Rau, I., Gal, A., Alcántara-Ortigoza, M. A., López-Martínez, M. S. & Santillán-Hernández, Y., 2013, In: EUR J MED GENET. 56, 3, p. 159-162 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. 2012

  15. Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.

    Schänzer, A., Rau, I., Kress, W., Köhler, A., Neubauer, B. & Hahn, A., 2012, In: KLIN PADIATR. 224, 4, p. 256-258 4.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. 2011

  17. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

    Gal, A., Rau, I., Leila, E. M., Kreienkamp, H-J., Fehr, S., Baklouti, K., Chouchane, I., Li, Y., Rehbein, M., Fuchs, J., Fledelius, H. C., Vilhelmsen, K., Schorderet, D. F., Munier, F. L., Ostergaard, E., Thompson, D. A. & Rosenberg, T., 2011, In: AM J HUM GENET. 88, 3, p. 382-390 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

    Huebner, A. K., Gandia, M., Frommolt, P., Maak, A., Wicklein, E. M., Thiele, H., Altmüller, J., Wagner, F., Viñuela, A., Aguirre, L. A., Moreno, F., Maier, H., Rau, I., Giesselmann, S., Nürnberg, G., Gal, A., Nürnberg, P., Hübner, C. A., Ignacio, D. C. & Kurth, I., 2011, In: AM J HUM GENET. 88, 5, p. 621-627 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. Phenotypic spectrum associated with CASK loss-of-function mutations.

    Moog, U., Kutsche, K., Kortüm, F., Chilian, B., Bierhals, T., Apeshiotis, N., Balg, S., Chassaing, N., Coubes, C., Das, S., Engels, H., Hilde, V. E., Grasshoff, U., Heise, M., Isidor, B., Jarvis, J., Koehler, U., Martin, T., Oehl-Jaschkowitz, B., Ortibus, E., Pilz, D. T., Prabhakar, P., Rappold, G., Rau, I., Rettenberger, G., Schlüter, G., Scott, R. H., Shoukier, M., Wohlleber, E., Zirn, B., Dobyns, W. B. & Uyanik, G., 2011, In: J MED GENET. 48, 11, p. 741-751 11.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. 2010

  21. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

    Langmann, T., Gioia, D., Rau, I., Rau, I., Maksimovic, N. S., Maksimovic, N. S., Corbo, J. C., Renner, A. B., Zrenner, E., Kumaramanickavel, G., Karlstetter, M., Arsenijevic, Y., Gal, A., Gal, A. & Rivolta, C., 2010, In: AM J HUM GENET. 87, 3, p. 376-381 3.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. 2008

  23. Inhibition of aldehyde dehydrogenase type 2 attenuates vasodilatory action of nitroglycerin in human veins.

    Huellner, M. W., Schrepfer, S., Weyand, M., Weiner, H., Rau, I., Eschenhagen, T. & Rau, T., 2008, In: FASEB J. 22, 7, p. 2561-2568 7.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  24. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

    Najm, J., Horn, D., Rau, I., Golden, J. A., Chizhikov, V. V., Jyotsna, S., Christian, S. L., Ullmann, R., Kuechler, A., Haas, C. A., Flubacher, A., Charnas, L. R., Uyanik, G., Frank, U., Klopocki, E., Dobyns, W. B. & Kutsche, K., 2008, In: NAT GENET.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. 2007

  26. HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?

    Rau, I., Shaw, G. M. & Kutsche, K., 2007, In: MOL VIS. 13, p. 1475-1482

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.

    Rau, I., Rauch, A., Orth, U., Schwarzer, U., Trautmann, U. & Kutsche, K., 2007, In: EUR J MED GENET. 50, 6, p. 421-431 6.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. Phenotypes of female adrenoleukodystrophy.

    Jung, H. H., Rau, I., Jung, S., Landau, K., Gal, A. & Heppner, F. L., 2007, In: NEUROLOGY. 68, 12, p. 960-961 12.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. 2006

  30. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

    Rau, I., Morleo, M., Rosenberger, G., Iaconis, D., Orth, U., Meinecke, P., Lerer, I., Ballabio, A., Gal, A., Franco, B. & Kutsche, K., 2006, In: AM J HUM GENET. 79, 5, p. 878-889 5.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review