Search Results - "Kulikowski, L D"

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability by Ceroni, J. R. M., Dutra, R. L., Honjo, R. S., Llerena, J. C., Acosta, A. X., Medeiros, P. F. V., Galera, M. F., Zanardo, É. A., Piazzon, F. B., Dias, A. T., Novo-Filho, G. M., Montenegro, M. M., Madia, F. A. R., Bertola, D. R., de Melo, J. B., Kulikowski, L. D., Kim, C. A.

“…Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number…”
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Subtelomeric rearrangements and copy number variations in people with intellectual disabilities by Christofolini, D. M., De Paula Ramos, M. A., Kulikowski, L. D., Da Silva Bellucco, F. T., Belangero, S. I. N., Brunoni, D., Melaragno, M. I.

“…Background  The most prevalent type of structural variation in the human genome is represented by copy number variations that can affect transcription levels,…”
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The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort by Fernandes, A.M., Rocha-Braz, M.G.M., França, M.M., Lerario, A.M., Simões, V.R.F., Zanardo, E.A., Kulikowski, L.D., Martin, R.M., Mendonca, B.B., Ferraz-de-Souza, B.

“…Summary We have sought the molecular diagnosis of OI in 38 Brazilian cases through targeted sequencing of 15 candidate genes. While 71% had type 1…”
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Efficacy of MLPA for detection of Y-chromosome microdeletions in infertile Brazilian patients by Franchim, C. S., Soares-Junior, J. M., Serafini, P. C., Monteleone, P. A. A., Coccuzza, M. S., Zanardo, E. A., Montenegro, M. M., Dias, A. T., Kulikowski, L. D., Baracat, E. C.

“…Purpose Worldwide publications follow the gold standard method—the polymerase chain reaction (PCR)—for detecting Y-chromosome microdeletions; however, markers…”
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The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil by Castro, L.P., Sahbatou, M., Kehdy, F.S.G., Farias, A.A., Yurchenko, A.A., de Souza, T.A., Rosa, R.C.A., Mendes-Junior, C.T., Borda, V., Munford, V., Zanardo, É.A., Chehimi, S.N., Kulikowski, L.D., Aquino, M.M., Leal, T.P., Tarazona-Santos, E., Chaibub, S.C., Gener, B., Calmels, N., Laugel, V., Sarasin, A., Menck, C.F.M.

“…•Identifying a common genomic segment between Brazilian and Spanish XP patients.•The POLH intron 6 mutation in Brazil is originally from Europe.•The founder…”
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Ring chromosome instability evaluation in six patients with autosomal rings by Sodré, C P, Guilherme, R S, Meloni, V F A, Brunoni, D, Juliano, Y, Andrade, J A D, Belangero, S I N, Christofolini, D M, Kulikowski, L D, Melaragno, M I

“…Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister…”
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First report of a small supernumerary der(8;14) marker chromosome by Guilherme, R S, Dutra, A R N, Perez, A B A, Takeno, S S, Oliveira, M M, Kulikowski, L D, Klein, E, Hamid, A B, Liehr, T, Melaragno, M I

“…Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, generally equal in size or smaller than a chromosome 20 of the same…”
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Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family by Belangero, S I, Pacanaro, A N X, Bellucco, F T, Christofolini, D M, Kulikowski, L D, Guilherme, R S, Bortolai, A, Dutra, A R N, Piazzon, F B, Cernach, M C, Melaragno, M I

“…A small supernumerary marker chromosome (sSMC) derived from chromosome 22 is a relatively common cytogenetic finding. This sSMC typically results in tetrasomy…”
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I Guidelines of heart failure and heart transplantation in the fetus, in children and adults with congenital cardiopathy, The Brazilian Society of Cardiology by Azeka, E, Jatene, M B, Jatene, I B, Horowitz, E S K, Branco, K C, Souza Neto, J D, Miura, N, Mattos, S, Afiune, J Y, Tanaka, A C, Santos, C C L, Guimarães, I C B, Manso, P H, Pellizari, R C R S, Santos, M V C, Thomaz, A M, Cristofani, L M, Ribeiro, A C L, Kulikowski, L D, Sampaio, M C, Pereira, A C, Soares, Am, Soares Junior, J, Oh, G H Y, Moreira, V, Mota, C C C, Afiune, C M C, Pedra, C, Pedra, S, Pedrosa, A, Guimarães, V, Caneo, L F, Ferreiro, C F, Cavalheiro Filho, C, Stefanello, B, Negrão, C E, Turquetto, A L R, Mesquita, S M F, Maeda, W F, Zorzanelli, L, Panajotopolos, N, Siqueira, A W S, Galas, F R B, Hajjar, L A, Benvenuti, L A, Vincenzi, P, Odone, V, Lopes, M H, Strabelli, T M V, Franchi, S M, Takeuti, A D, Duarte, M F, Leon, R G P, Hermida, R P M, Sorpreso, I C E, Soares Junior, J M, Melo, N R, Baracat, E C, Bortolotto, M R F L, Scanavacca, M, Shimoda, M S, Foronda, G, Romano, B W, Silva, D B, Omura, M M, Barbeiro, C P M, Vinhole, A R G, Palomo, J S H, Gonçalves, M A B, Reis, I C F, Oliveira, L G, Ribeiro, C C, Isosaki, M, Vieira, L P, Feltrim, M I Z, Manoel, L A, Abud, K C O, Paschotto, D R, Neves, I L I, Senaha, L E, Garcia, A C C N, Cipriano, S L, Santos, V C, Ferraz, A S, Moreira, A E L C, De Paulo, A R S A, Duque, A M P C, Trindade, E, Bacal, F, Auler Junior, J O C, Almeida, D R

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I DIRETRIZ DE INSUFICIÊNCIA CARDÍACA (IC) E TRANSPLANTE CARDÍACO, NO FETO, NA CRIANÇA E EM ADULTOS COM CARDIOPATIA CONGÊNITA, DA SOCIEDADE BRASILEIRA DE CARDIOLOGIA by E Azeka, MB Jatene, IB Jatene, ESK Horowitz, KC Branco, JD Souza Neto, N Miura, S Mattos, JY Afiune, AC Tanaka, CCL Santos, ICB Guimarães, PH Manso, RCRS Pellizari, MVC Santos, AM Thomaz, LM Cristofani, ACL Ribeiro, LD Kulikowski, MC Sampaio, AC Pereira, AM Soares, J Soares Junior, GHY Oh, V Moreira, CCC Mota, CMC Afiune, C Pedra, S Pedra, A Pedrosa, V Guimarães, LF Caneo, CR Ferreiro, C Cavalheiro Filho, B Stefanello, CE Negrão, ALR Turquetto, SMF Mesquita, WT Maeda, L Zorzanelli, N Panajotopolos, AWS Siqueira, FRB Galas, LA Hajjar, LA Benvenuti, P Vincenzi, V Odone, MH Lopes, TMV Strabelli, SM Franchi, AD Takeuti, MF Duarte, RGP Leon, RPM Hermida, ICE Sorpreso, JM Soares Junior, NR Melo, EC Baracat, MRFL Bortolotto, M Scanavacca, MS Shimoda, G Foronda, BW Romano, DB Silva, MM Omura, CPM Barbeiro, ARG Vinhole, JSH Palomo, MAB Gonçalves, ICF Reis, LG Oliveira, CC Ribeiro, M Isosaki, LP Vieira, MIZ Feltrim, LA Manoel, KCO Abud, DR Paschotto, ILI Neves, LE Senaha, ACCN Garcia, SL Cipriano, VC Santos, AS Ferraz, AELC Moreira, ARSA De Paulo, AMPC Duque, E Trindade, F Bacal, JOC Auler Junior, DR Almeida

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Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 → pter and partial trisomy 1q41 → qter suggests neo‐telomere formation in stabilizing the deleted chromosome by Kulikowski, Leslie D., Christ, Laurie A., Nogueira, Sintia I., Brunoni, Decio, Schwartz, Stuart, Melaragno, Maria I.

“…We report on a clinical and molecular cytogenetic study of a patient who presents a complex chromosomal rearrangement with two different cell lines. Using…”
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