21 documents found, page 1 of 3
Search for genomic alterations in monozygotic twins discordant for cleft lip an...
Kimani, Jane W.; Yoshiura, Koh-Ichiro; Shi, Min; Jugessur, Astanand; Moretti-Ferreira, Danilo [UNESP]; Christensen, Kaare; Murray, Jeffrey C.Made available in DSpace on 2022-04-28T20:59:30Z (GMT). No. of bitstreams: 0 Previous issue date: 2009-12-01; Phenotypically discordant monozygotic twins offer the possibility of gene discovery through delineation of molecular abnormalities in one member of the twin pair. One proposed mechanism of discordance is postzygotically occurring genomic alterations resulting from mitotic recombination and other somatic...
X-linked intellectual disability related genes disrupted by balanced X-autosome...
Moysés-Oliveira, Mariana; Guilherme, Roberta Santos; Meloni, Vera Ayres; Di Battista, Adriana; de Mello, Claudia Berlim; Bragagnolo, SilviaMade available in DSpace on 2022-04-29T07:26:31Z (GMT). No. of bitstreams: 0 Previous issue date: 2015-12-01; Detailed molecular characterization of chromosomal rearrangements involving X-chromosome has been a key strategy in identifying X-linked intellectual disability-causing genes. We fine-mapped the breakpoints in four women with balanced X-autosome translocations and variable phenotypes, in order to invest...
Rubinstein–Taybi syndrome in diverse populations
Tekendo-Ngongang, Cedrik; Owosela, Babajide; Fleischer, Nicole; Addissie, Yonit A.; Malonga, Bryan; Badoe, Ebenezer; Gupta, Neerja; Moresco, AngélicaMade available in DSpace on 2021-06-25T10:11:48Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-12-01; National Human Genome Research Institute; Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS pheno...
Spread of X-chromosome inactivation into autosomal regions in patients with unb...
Favilla, Bianca Pereira; Meloni, Vera Ayres; Perez, Ana Beatriz; Moretti-Ferreira, Danilo [UNESP]; Souza, Deise Helena de [UNESP]Made available in DSpace on 2021-06-25T11:57:30Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-04-29; Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); Patients with unbalanced X-autosome translocations are rare and usually present a skewed X-chromosome inactivation (XCI) pattern, with the derivative chromosome being prefe...
Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics...
Oliveira, Jakeline Santos [UNESP]; Joaquim, Tatiana Mozer; da Silva, Rosana Aparecida Bicudo [UNESP]; de Souza, Deise Helena [UNESP]Made available in DSpace on 2020-12-12T01:18:56Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-01-01. Added 1 bitstream(s) on 2021-07-15T15:07:11Z : No. of bitstreams: 1 S1415-47572020000100103.pdf: 1978986 bytes, checksum: cb9ec3a9be9228ca6bb3bdcc989f680a (MD5); Universidade Estadual Paulista; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); Duplication of the short arm of chromosom...
X chromosome inactivation spread into autosomal sequences replication timing an...
Favilla, Bianca; Meloni, Vera Ayres; Perez, Ana Beatriz; Moretti-Ferreira, Danilo [UNESP]; Bellucco, Fernanda Teixeira; Melaragno, Maria IsabelMade available in DSpace on 2019-10-04T12:14:38Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-07-05; Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); Unifesp Univ Fed Sao Paulo, Dept Morphol & Genet, Sao Paulo, Brazil; Unesp Univ Estado Sao Paulo, Dept Genet, Sao Paulo, Brazil; Unesp Univ Estado Sao Paulo, Dept Genet, Sao Paulo, Brazil
Are variants in sex hormone metabolizing genes associated with stuttering?
Domingues, Carlos E. Frigerio; Grainger, Katherine; Cheng, Hui; Moretti-Ferreira, Danilo [UNESP]; Riazuddin, Sheikh; Drayna, DennisMade available in DSpace on 2019-10-04T19:10:35Z (GMT). No. of bitstreams: 0 Previous issue date: 2019-04-01; National Institutes of Health, United States, National Institute on Deafness and Other Communication Disorders; NIDCD, NIH, Bethesda, MD 20892 USA; Sao Paulo State Univ, Inst Biosci, Botucatu, SP, Brazil; Alama Iqbal Med Res Ctr, Lahore 54550, Pakistan; Sao Paulo State Univ, Inst Biosci, Botucatu, SP, B...
NGS mapped breakpoints in balanced chromosomal rearrangements including the fir...
Tommerup, Niels; Fonseca, Ana Carolina; Mehrjouy, Mana; Rasmussen, Malene B.; Bache, Iben; Halgren, Christina; Kroisel, Peter; Midyan, SusannaMade available in DSpace on 2018-11-26T17:40:47Z (GMT). No. of bitstreams: 0 Previous issue date: 2017-06-29; Univ Copenhagen, Dept Cellular & Mol Med, Copenhagen, Denmark; Univ Sao Paulo, Dept Genet &Biol Evolut, Sao Paulo, Brazil; Med Univ Graz, Inst Humangenet, Graz, Austria; Ctr Med Genet, Center Med Genet & Primary Hlth Care, Yerevan, Armenia; Univ Leuven, Dept Human Genet, Leuven, Belgium; Rede Sarah Hosp...
Clinical and Molecular Heterogeneity in Brazilian Patients with Sotos Syndrome
Vieira, Gustavo H. [UNESP]; Cook, Melissa M.; Ferreira De Lima, Renata L.; Frigerio Domingues, Carlos E. [UNESP]; Carvalho, Daniel R. de [UNESP]Made available in DSpace on 2018-11-26T16:05:24Z (GMT). No. of bitstreams: 0 Previous issue date: 2015-01-01; South Carolina Department of Disabilities and Special Needs; Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES); Sotos syndrome (SoS) is a multiple anomaly, congenital disorder characterized by overgrowth, macrocephaly, dist...
Incorporation of 5-ethynyl-2'-deoxyuridine (EdU) as a novel strategy for identi...
Sisdelli, Luiza; Vidi, Angela Cristina; Moyses-Oliveira, Mariana; Di Battista, Adriana; Bortolai, Adriana; Moretti-Ferreira, Danilo [UNESP]Made available in DSpace on 2018-11-26T16:19:15Z (GMT). No. of bitstreams: 0 Previous issue date: 2016-02-01; Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); X-chromosome inactivation occurs randomly in normal female cells. However, the inactivation can be skewed in patients with alterations in X-chromosome. In balanced X-autosome translocations, normal X is preferentially inactivated, while in u...