Kathrin Rommel

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

Sonia Pavan, Kathrin Rommel, María Elena Mateo Marquina et al. · PLoS ONE · 2017 · 210 citations · Full text

Clinical Guidelines, Case Series, Cpg Quality +17

<i>TGFBR1</i>and<i>TGFBR2</i>mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome

Krishna K. Singh, Kathrin Rommel, Anjali Mishra et al. · Human Mutation · 2006 · 199 citations

Genetics, Loeys-dietz Syndrome, Pathology +16

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome

Kathrin Rommel, Matthias Karck, Axel Haverich et al. · Human Mutation · 2005 · 104 citations

Genotype-phenotype Correlations, Marfan Syndrome, Fibrosis +14

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

Kathrin Rommel, Matthias Karck, Axel Haverich et al. · Human Mutation · 2002 · 51 citations · Full text

Unrelated Patients, Genetics, Pathology +16

Prevalence of dural ectasia in 63 gene‐mutation‐positive patients with features of Marfan syndrome type 1 and Loeys‐Dietz syndrome and report of 22 novel <i>FBN1</i> mutations

Bahar Söylen, A Abuzainin, Kathrin Rommel et al. · Clinical Genetics · 2009 · 30 citations

Type 1, Marfan Syndrome, Developmental Biology +14