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Leslie Domenici Kulikowski

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Roberta Santos Guilherme; Rachel S Honjo; Chong A Kim; Leslie Domenici Kulikowski; Luis Garcia Alonso; Denise Maria Christofolini; Vera Ayres Meloni; Maria Isabel Melaragno
Ring chromosome 10: report on two patients and review of the literature.
Rachel Sayuri Honjo; Fernanda Sarquis Jehee; Roberta Lelis Dutra; Israel Gomy; Leslie Domenici Kulikowski; Michele Moreira Nunes; Chong A Kim
Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty.
Diogo Cordeiro de Queiroz Soares; Roberta Lelis Dutra; Leslie Domenici Kulikowski; Maria Isabel Melaragno; Leuridan Cavalcante Torres; Caio Robledo D'angioli Costa Quaio; Chong Ae Kim
Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region.

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All Publications

2013: Roberta Santos Guilherme; Rachel S Honjo; Chong A Kim; Leslie Domenici Kulikowski; Luis Garcia Alonso; Denise Maria Christofolini; Vera Ayres Meloni; Maria Isabel Melaragno
Ring chromosome 10: report on two patients and review of the literature.
Journal of applied genetics 2013;54(1):35-41.
2012: Rachel Sayuri Honjo; Fernanda Sarquis Jehee; Roberta Lelis Dutra; Israel Gomy; Leslie Domenici Kulikowski; Michele Moreira Nunes; Chong A Kim
Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty.
Journal of genetics and genomics = Yi chuan xue bao 2012;39(10):571-4.
2012: Diogo Cordeiro de Queiroz Soares; Roberta Lelis Dutra; Leslie Domenici Kulikowski; Maria Isabel Melaragno; Leuridan Cavalcante Torres; Caio Robledo D'angioli Costa Quaio; Chong Ae Kim
Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region.
Clinical immunology (Orlando, Fla.) 2012;145(1):55-8.
2012: Vera de Freitas Ayres Meloni; Flavia Balbo Piazzon; Maria de Fátima de Faria Soares; Sylvia Satomi Takeno; Decio Brunoni; Denise Maria Christofolini; Leslie Domenici Kulikowski; Maria Isabel Melaragno
Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.
Gene 2012;496(1):59-62.
2012: Monica Talarico Duailibi; Silvio Eduardo Duailibi; Lydia Masako Ferreira; Leslie Domenici Kulikowski; Mônica Vannucci Nunes Lipay; Maria Isabel Melaragno; Joseph Phillip Vacanti; Pamela C Yelick
Cytogenetic instability of dental pulp stem cell lines.
Journal of molecular histology 2012;43(1):89-94.
2012: Roberta S Guilherme; Leslie Domenici Kulikowski; Vera de Fa Meloni; Renata Pellegrino; Sylvia Satomi Takeno; Decio Brunoni; Maria Isabel Melaragno
Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report.
Journal of medical case reports 2012;6(1):283.
2012: S I Belangero; F T Bellucco; A Bortolai; M C Cernach; Denise Maria Christofolini; A R N Dutra; R S Guilherme; Leslie Domenici Kulikowski; A N X Pacanaro; F B Piazzon; Maria Isabel Melaragno
Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family.
Cytogenetic and genome research 2012;138(1):5-10.
2011: Roberta S Guilherme; Chong A Kim; Leslie Domenici Kulikowski; Renata Pellegrino; Nancy B Spinner; Sylvia Satomi Takeno; Vera F Ayres Meloni; Denise Maria Christofolini; Laura K Conlin; Maria Isabel Melaragno
Mechanisms of ring chromosome formation, ring instability and clinical consequences.
BMC medical genetics 2011;12():171.
2011: R Santos Guilherme; Leslie Domenici Kulikowski; S Bragagnolo; G M Carvolheira; Denise Maria Christofolini; R Pellegrino; Sylvia Satomi Takeno; Maria Isabel Melaragno
Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature.
Cytogenetic and genome research 2011;134(4):325-30.
2010: Roberta Santos Guilherme; Vera de Freitas Ayres Meloni; Claudete Palmer Sodré; Denise Maria Christofolini; Renata Pellegrino; Claudia Berlim de Mello; Laura Kathleen Conlin; Anne Lawlor Hutchinson; Nancy Bettina Spinner; Decio Brunoni; Leslie Domenici Kulikowski; Maria Isabel Melaragno
Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14.
American journal of medical genetics. Part A 2010;152A(11):2865-9.
2010: Leslie Domenici Kulikowski; Maisa Yoshimoto; Fernanda Teixeira da Silva Bellucco; Sintia Iole Nogueira Belangero; Denise Maria Christofolini; Ade Nubia Xavier Pacanaro; Adriana Bortolai; Marilia de Arruda Cardoso Smith; Jeremy A Squire; Maria Isabel Melaragno
Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation.
European journal of medical genetics 2010;53(6):404-7.
2010: Denise Maria Christofolini; M A de Paula Ramos; Leslie Domenici Kulikowski; F T da Silva Bellucco; S I N Belangero; Decio Brunoni; Maria Isabel Melaragno
Subtelomeric rearrangements and copy number variations in people with intellectual disabilities.
Journal of intellectual disability research : JIDR 2010;54(10):938-42.
2010: Acácia Fernandes Lacerda de Carvalho; Fernanda Teixeira da Silva Bellucco; Normeide Pedreira dos Santos; Renata Pellegrino; Lília Maria de Azevedo Moreira; Maria Betania Pereira Toralles; Leslie Domenici Kulikowski; Maria Isabel Melaragno
Trisomy 16q21 --> qter: Seven-year follow-up of a girl with unusually long survival.
American journal of medical genetics. Part A 2010;152A(8):2074-8.
2010: Ade Nubia Xavier Pacanaro; Denise Maria Christofolini; Leslie Domenici Kulikowski; Sintia Iole Nogueira Belangero; Fernanda Teixeira da Silva Bellucco; Monica C Varela; Celia P Koiffmann; Maisa Yoshimoto; Jeremy A Squire; Adriana V Schiavon; Benjamin Heck; Maria Isabel Melaragno
A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome.
American journal of medical genetics. Part A 2010;152A(3):753-8.
2010: C P Sodré; R S Guilherme; V F A Meloni; Decio Brunoni; Yara Juliano; J A D Andrade; S I N Belangero; Denise Maria Christofolini; Leslie Domenici Kulikowski; Maria Isabel Melaragno
Ring chromosome instability evaluation in six patients with autosomal rings.
Genetics and molecular research : GMR 2010;9(1):134-43.
2009: Sintia Iole Nogueira Belangero; Fernanda T S Bellucco; Leslie Domenici Kulikowski; Denise Maria Christofolini; Mirlene C S P Cernach; Maria Isabel Melaragno
22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype.
Arquivos brasileiros de cardiologia 2009;92(4):307-11.
2008: Acácia Fernandes Lacerda de Carvalho; Fernanda Teixeira da Silva Bellucco; Leslie Domenici Kulikowski; Maria Betânia Pereira Toralles; Maria Isabel Melaragno
Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.
Human genetics 2008;124(4):387-92.
2008: Leslie Domenici Kulikowski; Fernanda T S Bellucco; Sintia I Nogueira; Denise Maria Christofolini; Marília de Arruda Cardoso Smith; Claudia B de Mello; Decio Brunoni; Maria Isabel Melaragno
Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes.
American journal of medical genetics. Part A 2008;146A(20):2663-7.
2008: Sintia Iole Nogueira; April M Hacker; Fernanda T S Bellucco; Denise M Christofolini; Leslie Domenici Kulikowski; Mirlene C S P Cernach; Beverly S Emanuel; Maria Isabel Melaragno
Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum.
European journal of medical genetics 2008;51(3):226-30.
2007: Sintia Iole Nogueira; April M Hacker; Fernanda T S Bellucco; Leslie Domenici Kulikowski; Denise Maria Christofolini; Mirlene C Cernach; Maria Isabel Melaragno; Beverly S Emanuel
Deletion 22q11.2: report of a complex meiotic mechanism of origin.
American journal of medical genetics. Part A 2007;143A(15):1778-81.
2006: Leslie Domenici Kulikowski; Laurie A Christ; Sintia I Nogueira; Decio Brunoni; Stuart Schwartz; Maria Isabel Melaragno
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.
American journal of medical genetics. Part A 2006;140(1):82-7.