Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH

Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndrome

Timothy D. Howard, William A. Paznekas, Eric D. Green et al. · Nature Genetics · 1997 · 656 citations

Life Sciences, Genetics, Molecular Genetics +6

Mutations of the TWIST gene in the Saethre-Chotzene syndrome

Vincent El Ghouzzi, M Le Merrer, Fabienne Perrin‐Schmitt et al. · Nature Genetics · 1997 · 644 citations

Life Sciences, Genetics, Molecular Genetics +7

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Manuela De Gregori, Roberto Ciccone, Pamela Magini et al. · Journal of Medical Genetics · 2007 · 357 citations · Full text

Life Sciences, Genetics, Cytogenetics +16

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

Susan Gribble · Journal of Medical Genetics · 2005 · 216 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Saethre–Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

Christian Schropp, Gabriele Lieb, Birgit Petersen et al. · European Journal of Human Genetics · 2005 · 148 citations

Life Sciences, Genetics, Molecular Genetics +13