12 Einträge gefunden

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

   1. Kloth, Katja
   2. Neu, Axel
   3. Rau, Isabella
   4. Hülsemann, Wiebke
   5. Kutsche, Kerstin
   6. Volk, Alexander E

   2021 - Forschungsinformationssystem des UKE
2. Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

   1. Kloth, Katja
   2. Vater, Inga
   3. Lindschau, Ramona
   4. Rau, Isabella
   5. Caliebe, Almuth
   6. Muschol, Nicole Maria

   2020 - Forschungsinformationssystem des UKE - frei zugänglich
3. Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon

   1. Dunkl, Veronika
   2. Rau, Isabella
   3. Wunderlich, Gilbert
   4. Fink, Gereon R
   5. Lehmann, Helmar C

   2016 - Forschungsinformationssystem des UKE
4. 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

   1. van Rahden, Vanessa A
   2. Rau, Isabella
   3. Fuchs, Sigrid
   4. Kosyna, Friederike K
   5. de Almeida, Hiram Larangeira
   6. Fryssira, Helen
   7. Isidor, Bertrand

   2014 - Forschungsinformationssystem des UKE - frei zugänglich
5. Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.

   1. Piña-Aguilar, Raul E
   2. Zaragoza-Arévalo, Gerardo R
   3. Rau, Isabella
   4. Gal, Andreas
   5. Alcántara-Ortigoza, Miguel A
   6. López-Martínez, Mónica S
   7. Santillán-Hernández, Yuritzi

   2013 - Forschungsinformationssystem des UKE
6. Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.

   1. Schänzer, A
   2. Rau, Isabella
   3. Kress, W
   4. Köhler, A
   5. Neubauer, B
   6. Hahn, A

   2012 - Forschungsinformationssystem des UKE
7. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

   1. Gal, Andreas
   2. Rau, Isabella
   3. Leila, El Matri
   4. Kreienkamp, Hans-Jürgen
   5. Fehr, Susanne
   6. Baklouti, Karim
   7. Chouchane, Ibtissem

   2011 - Forschungsinformationssystem des UKE
8. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

   1. Langmann, Thomas
   2. Gioia, Di
   3. Rau, Isabella
   4. Rau, Isabella
   5. Maksimovic, Nela S.
   6. Maksimovic, Nela S
   7. Corbo, Joseph C

   2010 - Forschungsinformationssystem des UKE
9. 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.

   1. Rau, Isabella
   2. Rauch, Anita
   3. Orth, Ulrike
   4. Schwarzer, Ulrich
   5. Trautmann, Udo
   6. Kutsche, Kerstin

   2007 - Forschungsinformationssystem des UKE
10. HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?

    1. Rau, Isabella
    2. Shaw, Gary M
    3. Kutsche, Kerstin

    2007 - Forschungsinformationssystem des UKE
11. Phenotypes of female adrenoleukodystrophy.

    1. Jung, H H
    2. Rau, Isabella
    3. Jung, S
    4. Landau, K
    5. Gal, Andreas
    6. Heppner, F L

    2007 - Forschungsinformationssystem des UKE
12. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

    1. Rau, Isabella
    2. Morleo, Manuela
    3. Rosenberger, Georg
    4. Iaconis, Daniela
    5. Orth, Ulrike
    6. Meinecke, Peter
    7. Lerer, Israela

    2006 - Forschungsinformationssystem des UKE