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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Journal article

Calpena E. et al, (2020), Genet Med

A variant in IL6ST with a selective IL-11 signaling defect in human and mouse

Journal article

TWIGG S. et al, (2020), Bone Research

BMP2 or not BMP2? A SMAD6-related question in craniosynostosis

Conference paper

Calpena E. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1277 - 1278

Recurrent mosaic SMO mutation in two patients confirms Happle-Tinschert Syndrome as a variant of Curry-Jones Syndrome

Journal article

TWIGG STEPHEN. et al, (2019), British Journal of Dermatology

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Journal article

Glass GE. et al, (2019), Am J Med Genet A, 179, 615 - 627

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1.

Journal article

Romanelli Tavares VL. et al, (2019), Mol Syndromol, 10, 40 - 47

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Journal article

Zhou Y. et al, (2018), Hum Mutat, 39, 1360 - 1365

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia.

Journal article

Goos JAC. et al, (2017), Eur J Hum Genet, 25, 1126 - 1133

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

Journal article

Schwerd T. et al, (2017), J Exp Med, 214, 2547 - 2562

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

Journal article

Wigby K. et al, (2017), Am J Med Genet A, 173, 1586 - 1592

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