Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

S. Martinelli; A. De Luca; E. Stellacci; C. Rossi; S. Checquolo; F. Lepri; V. Caputo; M. Silvano; F. Buscherini; F. Consoli; G. Ferrara; M.C. Digilio; M.L. Cavaliere; J.M. van Hagen; G. Zampino; I. van der Burgt; G.B. Ferrero; L. Mazzanti; I. Screpanti; H.G. Yntema; W.M. Nillesen; R. Savarirayan; M. Zenker; B. Dallapiccola; B.D. Gelb; M. Tartaglia

doi:https://doi.org/10.1016/j.ajhg.2010.06.015

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

S. Martinelli, A. De Luca, E. Stellacci, C. Rossi, S. Checquolo, F. Lepri, V. Caputo, M. Silvano, F. Buscherini, F. Consoli, G. Ferrara, M.C. Digilio, M.L. Cavaliere, J.M. van Hagen, G. Zampino, I. van der Burgt, G.B. Ferrero, L. Mazzanti, I. Screpanti, H.G. YntemaW.M. Nillesen, R. Savarirayan, M. Zenker, B. Dallapiccola, B.D. Gelb, M. Tartaglia

Clinical Genetics (VUmc)

Research output: Contribution to journal › Article › Academic › peer-review

190 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	250-257
Journal	American journal of human genetics
Volume	87
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2010.06.015
Publication status	Published - 2010

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https://doi.org/10.1016/j.ajhg.2010.06.015

Cite this

Martinelli, S., De Luca, A., Stellacci, E., Rossi, C., Checquolo, S., Lepri, F., Caputo, V., Silvano, M., Buscherini, F., Consoli, F., Ferrara, G., Digilio, M. C., Cavaliere, M. L., van Hagen, J. M., Zampino, G., van der Burgt, I., Ferrero, G. B., Mazzanti, L., Screpanti, I., ... Tartaglia, M. (2010). Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype. American journal of human genetics, 87(2), 250-257. https://doi.org/10.1016/j.ajhg.2010.06.015

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title = "Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype",

author = "S. Martinelli and {De Luca}, A. and E. Stellacci and C. Rossi and S. Checquolo and F. Lepri and V. Caputo and M. Silvano and F. Buscherini and F. Consoli and G. Ferrara and M.C. Digilio and M.L. Cavaliere and {van Hagen}, J.M. and G. Zampino and {van der Burgt}, I. and G.B. Ferrero and L. Mazzanti and I. Screpanti and H.G. Yntema and W.M. Nillesen and R. Savarirayan and M. Zenker and B. Dallapiccola and B.D. Gelb and M. Tartaglia",

year = "2010",

doi = "https://doi.org/10.1016/j.ajhg.2010.06.015",

language = "Undefined/Unknown",

volume = "87",

pages = "250--257",

journal = "American Journal of Human Genetics",

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Martinelli, S, De Luca, A, Stellacci, E, Rossi, C, Checquolo, S, Lepri, F, Caputo, V, Silvano, M, Buscherini, F, Consoli, F, Ferrara, G, Digilio, MC, Cavaliere, ML, van Hagen, JM, Zampino, G, van der Burgt, I, Ferrero, GB, Mazzanti, L, Screpanti, I, Yntema, HG, Nillesen, WM, Savarirayan, R, Zenker, M, Dallapiccola, B, Gelb, BD & Tartaglia, M 2010, 'Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype', American journal of human genetics, vol. 87, no. 2, pp. 250-257. https://doi.org/10.1016/j.ajhg.2010.06.015

TY - JOUR

T1 - Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

AU - Martinelli, S.

AU - De Luca, A.

AU - Stellacci, E.

AU - Rossi, C.

AU - Checquolo, S.

AU - Lepri, F.

AU - Caputo, V.

AU - Silvano, M.

AU - Buscherini, F.

AU - Consoli, F.

AU - Ferrara, G.

AU - Digilio, M.C.

AU - Cavaliere, M.L.

AU - van Hagen, J.M.

AU - Zampino, G.

AU - van der Burgt, I.

AU - Ferrero, G.B.

AU - Mazzanti, L.

AU - Screpanti, I.

AU - Yntema, H.G.

AU - Nillesen, W.M.

AU - Savarirayan, R.

AU - Zenker, M.

AU - Dallapiccola, B.

AU - Gelb, B.D.

AU - Tartaglia, M.

PY - 2010

Y1 - 2010

U2 - https://doi.org/10.1016/j.ajhg.2010.06.015

DO - https://doi.org/10.1016/j.ajhg.2010.06.015

M3 - Article

C2 - 20619386

VL - 87

SP - 250

EP - 257

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 2

ER -