Genomic imbalances associated with müllerian aplasia von Cheroki, C, Krepischi-Santos, A C V, Szuhai, K, Brenner, V, Kim, C A E, Otto, P A, Rosenberg, C

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Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents von Rosenberg, C, Knijnenburg, J, Bakker, E, Vianna-Morgante, A M, Sloos, W, Otto, P A, Kriek, M, Hansson, K, Krepischi-Santos, A C V, Fiegler, H, Carter, N P, Bijlsma, E K, van Haeringen, A, Szuhai, K, Tanke, H J

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High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiple... von Jehee, F S, Krepischi-Santos, A C V, Rocha, K M, Cavalcanti, D P, Kim, C A, Bertola, D R, Alonso, L G, D’Angelo, C S, Mazzeu, J F, Froyen, G, Lugtenberg, D, Vianna-Morgante, A M, Rosenberg, C, Passos-Bueno, M R

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Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations von Krepischi-Santos, A.C.V., Vianna-Morgante, A.M., Jehee, F.S., Passos-Bueno, M.R., Knijnenburg, J., Szuhai, K., Sloos, W., Mazzeu, J.F., Kok, F., Cheroki, C., Otto, P.A., Mingroni-Netto, R.C., Varela, M., Koiffmann, C., Kim, C.A., Bertola, D.R., Pearson, P.L., Rosenberg, C.

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Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1 von Krepischi-Santos, A.C.V., Rajan, D., Temple, I.K., Shrubb, V., Crolla, J.A., Huang, S., Beal, S., Otto, P.A., Carter, N.P., Vianna-Morgante, A.M., Rosenberg, C.

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A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient von Varela, M.C., Krepischi-Santos, A.C.V., Paz, J.A., Knijnenburg, J., Szuhai, K., Rosenberg, C., Koiffmann, C.P.

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Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B von Krepischi‐Santos, A. C. V., Carneiro, J. D. A., Svartman, M., Bendit, I., Odone‐Filho, V., Vianna‐Morgante, A. M.

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Genomic imbalances associated with muellerian aplasia von Cheroki, C, Krepischi-Santos, A C V, Szuhai, K, Brenner, V, Kim, C A E, Otto, P A, Rosenberg, C

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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability von Gribble, Susan, Rosenberg, Carla, de Silva, Rohan, Kalaitzopoulos, Dimitrios, Cumming, Sally, Dunn, Carolyn, Rickman, Lisa, Lees, Andrew J, Prigmore, Elena, Porter, Keith, Koiffmann, Celia P, Carter, Nigel P, Shaw-Smith, Charles, Martin, Howard, Curley, Rebecca, Willatt, Lionel, Krepischi-Santos, Ana C V, Pittman, Alan M, Varela, Monica C, Firth, Helen V

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Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation von Ullmann, Reinhard, Turner, Gillian, Kirchhoff, Maria, Chen, Wei, Tonge, Bruce, Rosenberg, Carla, Field, Michael, Vianna‐Morgante, Angela M., Christie, Louise, Krepischi‐Santos, Ana C., Banna, Lynn, Brereton, Avril V., Hill, Alyssa, Bisgaard, Anne‐Marie, Müller, Ines, Hultschig, Claus, Erdogan, Fikret, Wieczorek, Georg, Ropers, H. Hilger

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome von Koolen, D A, Sharp, A J, Hurst, J A, Firth, H V, Knight, S J L, Goldenberg, A, Saugier-Veber, P, Pfundt, R, Vissers, L E L M, Destrée, A, Grisart, B, Rooms, L, Van der Aa, N, Field, M, Hackett, A, Bell, K, Nowaczyk, M J M, Mancini, G M S, Poddighe, P J, Schwartz, C E, Rossi, E, De Gregori, M, Antonacci-Fulton, L L, McLellan, M D, Garrett, J M, Wiechert, M A, Miner, T L, Crosby, S, Ciccone, R, Willatt, L, Rauch, A, Zenker, M, Aradhya, S, Manning, M A, Strom, T M, Wagenstaller, J, Krepischi-Santos, A C, Vianna-Morgante, A M, Rosenberg, C, Price, S M, Stewart, H, Shaw-Smith, C, Brunner, H G, Wilkie, A O M, Veltman, J A, Zuffardi, O, Eichler, E E, de Vries, B B A

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Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability von Gamba, Bruno F., Zechi-Ceide, Roseli M., Kokitsu-Nakata, Nancy M., Vendramini-Pittoli, Siulan, Rosenberg, Carla, Krepischi Santos, Ana C.V., Ribeiro-Bicudo, Lucilene, Richieri-Costa, Antonio

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An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses von Jehee, Fernanda S., Bertola, Débora R., Yelavarthi, Krishna K., Krepischi‐Santos, Ana C.V., Kim, Chong, Vianna‐Morgante, Angela M., Vermeesch, Joris R., Passos‐Bueno, Maria Rita

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

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