Sigrid Tinschert

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

Peter Nürnberg, Hölger Thiele, David Chandler et al. · Nature Genetics · 2001 · 243 citations

Medicine, Genetics, Molecular Genetics +17

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

Luciana Musante, Hans-Gerd Kehl, Frank Majewski et al. · European Journal of Human Genetics · 2003 · 163 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

The Gene for Autosomal Dominant Craniometaphyseal Dysplasia Maps to Chromosome 5p and Is Distinct from the Growth Hormone-Receptor Gene

Peter Nürnberg, Sigrid Tinschert, Michal Mrug et al. · The American Journal of Human Genetics · 1997 · 39 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Two independent mutations in a family with neurofibromatosis type 1 (NF1)

Hartmut Peters, Sven Hoffmeyer, Annegret Buske et al. · American Journal of Medical Genetics · 1999 · 34 citations

Life Sciences, Genetics, Molecular Genetics +15

Analysis of theNF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b

Mohammed R. Toliat, Fikret Erdogan, Andreas Gewies et al. · Electrophoresis · 2000 · 31 citations

Life Sciences, Genetics, Molecular Genetics +14