Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Vera Ayres Meloni"'
Autor:
Natalia Nunes, Beatriz Carvalho Nunes, Malú Zamariolli, Diogo Cordeiro de Queiroz Soares, Leonardo Caires dos Santos, Anelisa Gollo Dantas, Vera Ayres Meloni, Sintia Iole Belangero, Vera Lúcia Gil-Da-Silva-Lopes, Chong Ae Kim, Maria Isabel Melaragno
Publikováno v:
Genetics Research, Vol 2024 (2024)
22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with a broad and heterogeneous phenotype, even though most of the deletions present similar sizes, involving ∼3 Mb of DNA. In a relatively large population of a Brazilian 22q11.2DS c
Externí odkaz:
https://doaj.org/article/3aec9cf7c8f64a16aa4b81645a566b72
Autor:
Caroline Olivati, Bianca Pereira Favilla, Erika Lopes Freitas, Bibiana Santos, Maria Isabel Melaragno, Vera Ayres Meloni, Flavia Piazzon
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100879- (2022)
Allan-Herndon-Dudley syndrome (AHDS) is characterized by neuropsychomotor developmental delay/intellectual disability, neurological impairment with a movement disorder, and an abnormal thyroid hormone profile. This disease is an X-linked disorder tha
Externí odkaz:
https://doaj.org/article/2d8ce356c2b2446e9648067f9eaacfbe
Autor:
Bruna Burssed, Malú Zamariolli, Bianca Pereira Favilla, Vera Ayres Meloni, Eny Maria Goloni-Bertollo, Fernanda Teixeira Bellucco, Maria Isabel Melaragno
Publikováno v:
Chromosome Research. 31
Autor:
Bianca Pereira Favilla, Bruna Burssed, Érika Mitie Yamashiro Coelho, Ana Beatriz Alvarez Perez, Maria de Fátima de Faria Soares, Vera Ayres Meloni, Fernanda Teixeira Bellucco, Maria Isabel Melaragno
Publikováno v:
Cytogenetic and Genome Research. 162:46-54
Langer-Giedion syndrome (LGS) is caused by a contiguous deletion at 8q23q24, characterized by exostoses, facial, ectodermal, and skeletal anomalies, and, occasionally, intellectual disability. LGS patients have been diagnosed clinically or by routine
Autor:
Maria Isabel Melaragno, Maria de Fátima de Faria Soares, Vera Ayres Meloni, Malú Zamariolli, Kelin Chen
Publikováno v:
Molecular Syndromology. 13:50-55
Multicentric carpotarsal osteolysis syndrome (MCTO; MIM #166300) is a rare skeletal disorder characterized by osteolysis affecting particularly the carpal, metacarpal, and tarsal bones, although other bones might be involved. MCTO is an autosomal dom
Autor:
Nadezda Kosyakova, Silvia Bragagnolo, Alexandre Reymond, Mariana Moysés-Oliveira, Vera Ayres Meloni, Carlos Eduardo Steiner, Denise Maria Christofolini, Thomas Liehr, Adriana Di-Battista, Maria Isabel Melaragno, Malú Zamariolli
Publikováno v:
Eur J Hum Genet
Precise breakpoint mapping of balanced chromosomal rearrangements is crucial to identify disease etiology. Ten female patients with X-autosome balanced translocations associated with phenotypic alterations were evaluated, by mapping and sequencing th
Autor:
Natália Nunes, Malú Zamariolli, Anelisa Gollo Dantas, Paula Cola, Francisco de Agostinho Júnior, Flavia Balbo Piazzon, Vera Ayres Meloni, Maria Isabel Melaragno
Publikováno v:
European Journal of Medical Genetics. 65:104440
CEDNIK (Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma) syndrome is a neuro ichthyotic syndrome characterized by a clinical constellation of features including severe developmental delay, microcephaly, and facial dysmorphism. Here, we r
Autor:
Fernanda Teixeira da Silva Bellucco, Claudia Berlim de Mello, Maria Isabel Melaragno, Vera Ayres Meloni
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Malan syndrome is a recently introduced overgrowth disorder described in a limited number of individuals. Haploinsufficiency and also point mutations of NFIX gene have been proposed as its leading causative mechanism, however, due to the l
Autor:
Vera Ayres Meloni, Adriana Di-Battista, Malú Zamariolli, Denise L. Perry, Thomas Liehr, Maria Isabel Melaragno, Rodney D. Gilbert, Nadezda Kosyakova, Alka Malhotra, Mariana Moysés-Oliveira, Giuliana Giannuzzi, Gustavo J.S. Pereira, Donald Basel, Gianna Carvalheira, Maria L. Cremona, Julie McCarrier, Sarah Ennis, Marguerite Neerman-Arbez, Richard J. Fish, Taiza Stumpp, Eleanor G. Seaby, Michael W. Parker, Wenhui L Li, Joris Andrieux, Anjana Chandrasekhar, Florence Petit, Ryan J. Taft, Maria de Fátima de Faria Soares, Fernanda Antunes, Fan Xia, Leslie Domenici Kulikowski, Margaret Drummond-Borg, Jill A. Rosenfeld, Alexandre Reymond, R. Tanner Hagelstrom
Publikováno v:
Human Mutation, Vol. 39, No 2 (2018) pp. 281-291
We report five individuals with loss-of-function of the X-linked AMMECR1: a girl with a balanced X-autosome translocation and inactivation of the normal X-chromosome; two boys with maternally inherited and de novo nonsense variants; and two half-brot
Autor:
Débora Romeo Bertola, Chrissie M. Ongaco, Kimberly F. Doheny, Vera Ayres Meloni, Maria Isabel Melaragno, David Valle, Jane Romm, Nara Sobreira, Chong Ae Kim, Li Zhang, Regina Célia Mingroni-Netto, Martha Brucato, Hans T. Bjornsson, Christine Ladd-Acosta, Ana Beatriz Alvarez Perez
Publikováno v:
European Journal of Human Genetics. 25:1335-1344
Kabuki syndrome is a monogenic disorder caused by loss of function variants in either of two genes encoding histone-modifying enzymes. We performed targeted sequencing in a cohort of 27 probands with a clinical diagnosis of Kabuki syndrome. Of these,