检索结果 - McDonald-McGinn, D M

PCR assay confirms diagnosis in syndrome with variably expressed phenotype: mutation detection in Stickler syndrome. 由 Ahmad, N N, McDonald-McGinn, D M, Dixon, P, Zackai, E H, Tasman, W S

获取全文 获取全文

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects. 由 Goldmuntz, E, Driscoll, D, Budarf, M L, Zackai, E H, McDonald-McGinn, D M, Biegel, J A, Emanuel, B S

获取全文 获取全文

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. 由 Driscoll, D A, Salvin, J, Sellinger, B, Budarf, M L, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S

获取全文 获取全文

Cerebellar atrophy in a patient with velocardiofacial syndrome. 由 Lynch, D R, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S, Driscoll, D A, Whitaker, L A, Fischbeck, K H

获取全文 获取全文

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. 由 Ahmad, N N, McDonald-McGinn, D M, Zackai, E H, Knowlton, R G, LaRossa, D, DiMascio, J, Prockop, D J

获取全文 获取全文

Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review 由 Verheij, E., Elden, L., Crowley, T.B., Pameijer, F.A., Zackai, E.H., McDonald-McGinn, D.M., Thomeer, H.G.X.M.

获取全文 获取全文 获取全文

Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome 由 Tang, S X, Moore, T M, Calkins, M E, Yi, J J, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S, Gur, R C, Gur, R E

获取全文 获取全文 获取全文

De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. 由 Oldridge, M, Zackai, E H, McDonald-McGinn, D M, Iseki, S, Morriss-Kay, G M, Twigg, S R, Johnson, D, Wall, S A, Jiang, W, Theda, C, Jabs, E W, Wilkie, A O

获取全文 获取全文

Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated 由 Tang, S. X., Yi, J. J., Calkins, M. E., Whinna, D. A., Kohler, C. G., Souders, M. C., McDonald-McGinn, D. M., Zackai, E. H., Emanuel, B. S., Gur, R. C., Gur, R. E.

获取全文 获取全文 获取全文

Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome 由 Gross, S. J., Stosic, M., McDonald‐McGinn, D. M., Bassett, A. S., Norvez, A., Dhamankar, R., Kobara, K., Kirkizlar, E., Zimmermann, B., Wayham, N., Babiarz, J. E., Ryan, A., Jinnett, K. N., Demko, Z., Benn, P.

获取全文 获取全文 获取全文

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated 由 Corsten-Janssen, N., Saitta, S.C., Hoefsloot, L.H., McDonald-McGinn, D.M., Driscoll, D.A., Derks, R., Dickinson, K.A., Kerstjens-Frederikse, W.S., Emanuel, B.S., Zackai, E.H., van Ravenswaaij-Arts, C.M.A.

获取全文 获取全文 获取全文

Incidental Radiologic Findings in the 22q11.2 Deletion Syndrome 由 Schmitt, J.E., Yi, J.J., Roalf, D.R., Loevner, L.A., Ruparel, K., Whinna, D., Souders, M.C., McDonald-McGinn, D.M., Yodh, E., Vandekar, S., Zackai, E.H., Gur, R.C., Emanuel, B.S., Gur, R.E.

获取全文 获取全文 获取全文

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome 由 Muenke, M., Gripp, K. W., McDonald-McGinn, D. M., Gaudenz, K., Whitaker, L. A., Bartlett, S. P., Markowitz, R. I., Robin, N. H., Nwokoro, N., Mulvihill, J. J., Losken, H. W., Mulliken, J. B., Guttmacher, A. E., Wilroy, R. S., Clarke, L. A., Hollway, G., Adès, L. C., Haan, E. A., Mulley, J. C., Cohen, M. M., Bellus, G. A., Francomano, C. A., Moloney, D. M., Wall, S. A., Wilkie, A. O. M., Zackai, E. H.

获取全文 获取全文

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function 由 Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domené, S, Vélez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njølstad, P R, Brunner, H G, Carey, J C, Hehr, U, Müsebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B, Muenke, M

获取全文 获取全文 获取全文

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome 由 Lopez-Rivera, E., Liu, Y.P., Verbitsky, M., Anderson, B.R., Capone, V.P., Otto, E.A., Yan, Z., Mitrotti, A., Martino, J., Steers, N.J., Fasel, D.A., Vukojevic, K., Deng, R., Racedo, S.E., Liu, Q., Werth, M., Westland, R., Vivante, A., Makar, G.S., Bodria, M., Sampson, M.G., Gillies, C.E., Vega-Warner, V., Maiorana, M., Petrey, D.S., Honig, B., Lozanovski, V.J., Salomon, R., Heidet, L., Carpentier, W., Gaillard, D., Carrea, A., Gesualdo, L., Cusi, D., Izzi, C., Scolari, F., van Wijk, J.A.E., Arapovic, A., Saraga-Babic, M., Saraga, M., Kunac, N., Samii, A., McDonald-McGinn, D.M., Crowley, T.B., Zackai, E.H., Drozdz, D., Miklaszewska, M., Tkaczyk, M., Sikora, P., Szczepanska, M., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Darlow, J.M., Puri, P., Barton, D., Casolari, E., Furth, S.L., Warady, B.A., Gucev, Z., Hakonarson, H., Flogelova, H., Tasic, V., Latos-Bielenska, A., Materna-Kiryluk, A., Allegri, L., Wong, C.S., Drummond, I.A., D’Agati, V., Imamoto, A., Barasch, J.M., Hildebrandt, F., Kiryluk, K., Lifton, R.P., Morrow, B.E., Jeanpierre, C., Papaioannou, V.E., Ghiggeri, G.M., Gharavi, A.G., Katsanis, N., Sanna-Cherchi, S.

获取全文 获取全文 获取全文