Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
10.1038/ng1119
Crossref journal-article
Springer Science and Business Media LLC
Nature Genetics (297)
Bibliography

Robertson, S. P., Twigg, S. R. F., Sutherland-Smith, A. J., Biancalana, V., Gorlin, R. J., Horn, D., Kenwrick, S. J., Kim, C. A., Morava, E., Newbury-Ecob, R., Ørstavik, K. H., Quarrell, O. W. J., Schwartz, C. E., Shears, D. J., Suri, M., Kendrick-Jones, J., & Wilkie, A. O. M. (2003). Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nature Genetics, 33(4), 487–491.

Authors 18
  1. (first)
  2. Stephen P. Robertson (first)
  3. Stephen R.F. Twigg (additional)
  4. Andrew J. Sutherland-Smith (additional)
  5. Valérie Biancalana (additional)
  6. Robert J. Gorlin (additional)
  7. Denise Horn (additional)
  8. Susan J. Kenwrick (additional)
  9. Chong A. Kim (additional)
  10. Eva Morava (additional)
  11. Ruth Newbury-Ecob (additional)
  12. Karen H. Ørstavik (additional)
  13. Oliver W.J. Quarrell (additional)
  14. Charles E. Schwartz (additional)
  15. Deborah J. Shears (additional)
  16. Mohnish Suri (additional)
  17. John Kendrick-Jones (additional)
  18. Andrew O.M. Wilkie (additional)
References 29 Referenced 348
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  2. van der Flier, A. & Sonnenberg, A. Structural and functional aspects of filamins. Biochim. Biophys. Acta 1538, 99–117 (2001). (10.1016/S0167-4889(01)00072-6) / Biochim. Biophys. Acta by A van der Flier (2001)
  3. Fox, J.W. et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21, 1315–1325 (1998). (10.1016/S0896-6273(00)80651-0) / Neuron by JW Fox (1998)
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  5. Sheen, V.L. et al. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum. Mol. Genet. 10, 1775–1783 (2001). (10.1093/hmg/10.17.1775) / Hum. Mol. Genet. by VL Sheen (2001)
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  12. Verloes, A. et al. Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick–Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. Am. J. Med. Genet. 90, 407–422 (2000). (10.1002/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D) / Am. J. Med. Genet. by A Verloes (2000)
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  17. Donnenfeld, A.E., Conard, K.A., Roberts, N.S., Borns, P.F. & Zackai, E.H. Melnick–Needles syndrome in males: a lethal multiple congenital anomalies syndrome. Am. J. Med. Genet. 27, 159–173 (1987). (10.1002/ajmg.1320270117) / Am. J. Med. Genet. by AE Donnenfeld (1987)
  18. Sheen, V.L. et al. Filamin A and filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. Hum. Mol. Genet. 11, 2845–2854 (2002). (10.1093/hmg/11.23.2845) / Hum. Mol. Genet. by VL Sheen (2002)
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  28. Kristiansen, M., Knudsen, G.P., Søyland, A., Westvik, J. & Ørstavik, K.H. Phenotypic variation in Melnick–Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear. Am. J. Med. Genet. 108, 120–127 (2002). (10.1002/ajmg.10245) / Am. J. Med. Genet. by M Kristiansen (2002)
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Dates
Type When
Created 22 years, 5 months ago (March 28, 2003, 11:57 a.m.)
Deposited 2 years, 3 months ago (May 18, 2023, 1:17 p.m.)
Indexed 3 days, 22 hours ago (Sept. 3, 2025, 6:10 a.m.)
Issued 22 years, 6 months ago (March 3, 2003)
Published 22 years, 6 months ago (March 3, 2003)
Published Online 22 years, 6 months ago (March 3, 2003)
Published Print 22 years, 5 months ago (April 1, 2003)
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@article{2003, title={Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans}, volume={33}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng1119}, DOI={10.1038/ng1119}, number={4}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Robertson, Stephen P. and Twigg, Stephen R.F. and Sutherland-Smith, Andrew J. and Biancalana, Valérie and Gorlin, Robert J. and Horn, Denise and Kenwrick, Susan J. and Kim, Chong A. and Morava, Eva and Newbury-Ecob, Ruth and Ørstavik, Karen H. and Quarrell, Oliver W.J. and Schwartz, Charles E. and Shears, Deborah J. and Suri, Mohnish and Kendrick-Jones, John and Wilkie, Andrew O.M.}, year={2003}, month=mar, pages={487–491} }