Search Results - "Jehee, F S"

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation by 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

“…We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. In total, 45 patients with…”
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Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly by Jehee, FS, Johnson, D, Alonso, LG, Cavalcanti, DP, De Sá Moreira, E, Alberto, FL, Kok, F, Kim, C, Wall, SA, Jabs, EW, Boyadjiev, SA, Wilkie, AOM, Passos-Bueno, MR

“…Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. To contribute to a better understanding of the…”
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Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil by Vianna, G S, Medeiros, P F V, Alves, A F, Silva, T O, Jehee, F S

“…In several patients, intellectual disability and/or congenital malformation may be attributed to chromosomal changes. In this study, we conducted an array-CGH…”
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Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations by 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

“…We report array-CGH screening of 95 syndromic patients with normal G-banded karyotypes and at least one of the following features: mental retardation, heart…”
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Manipulation of primer affinity improves high-resolution melting accuracy for imprinted genes by Rubatino, F V M, Carobin, N V, Freitas, M L, de Oliveira, V T, Pietra, R X, Oliveira, P P R, Bosco, A A, Jehee, F S

“…High-resolution melting (HRM) is considered an inexpensive, rapid, and attractive methodology for methylation analysis. In the application of the polymerase…”
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Methylation profile of SNRPN gene and its correlation with weight and chronological age by Carobin, N V, Rubatino, F V M, Freitas, M L, de Oliveira, V T, Pietra, R X, Bosco, A A, Jehee, F S

“…Genomic imprinting is an important epigenetic phenomenon, wherein genes or gene clusters are marked by DNA methylation during gametogenesis. This plays a major…”
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RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity by Jenkins, Dagan, Seelow, Dominik, Jehee, Fernanda S., Perlyn, Chad A., Alonso, Luís G., Bueno, Daniela F., Donnai, Dian, Josifiova, Dragana, Mathijssen, Irene M.J., Morton, Jenny E.V., Helene Ørstavik, Karen, Sweeney, Elizabeth, Wall, Steven A., Marsh, Jeffrey L., Nürnberg, Peter, Rita Passos-Bueno, Maria, Wilkie, Andrew O.M.

“…Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly,…”
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Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large chort of patients with trigonocephaly by Jehee, F S, Johnson, D, Alonso, L G, Cavalcanti, D P

“…Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. To contribute to a better understanding of the…”
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An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array‐CGH) defines a new locus (FGS5) for FG syndrome by Jehee, Fernanda Sarquis, Rosenberg, Carla, Krepischi‐Santos, Ana Cristina, Kok, Fernando, Knijnenburg, Jeroen, Froyen, Guy, Vianna‐Morgante, Angela M., Opitz, John M., Passos‐Bueno, Maria Rita

“…FG syndrome is an X‐linked multiple congenital anomalies (MCA) syndrome. It has been mapped to four distinct loci FGS1‐4, through linkage analysis (Xq13,…”
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Mutational Screening of FGFR1, CER1, and CDON in a Large Cohort of Trigonocephalic Patients by Jehee, Fernanda Sarquis, Alonso, Luis G., Cavalcanti, Denise P., Kim, Chong, Wall, Steven A., Mulliken, John B., Sun, Miao, Jabs, Ethylin Wang, Boyadjiev, Simeon A., Wilkie, Andrew O. M., Passos-Bueno, Maria Rita

“…Objective Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with…”
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