Zobrazeno 1 - 10
of 24
pro vyhledávání: '"José Carlos Cabral de Almeida"'
Autor:
Leila C.A. Cardoso, Jair A. Tenorio Castaño, Hanna S. Pereira, Maria Angélica de F.D. Lima, Anna Cláudia E. dos Santos, Paulo S. de Faria, Sima Ferman, Héctor N. Seuánez, Julián B. Nevado, José Carlos Cabral de Almeida, Pablo Lapunzina, Fernando R. Vargas
Publikováno v:
Genetics and Molecular Biology, Vol 35, Iss 4, Pp 714-724 (2012)
The most frequent epigenetic alterations in Wilms tumor (WT) occur at WT2, assigned to 11p15. WT2 consists of two domains: telomeric domain 1 (DMRH19) that contains the IGF2 gene and an imprinted maternally expressed transcript (H19) and centromeric
Externí odkaz:
https://doaj.org/article/29523dd8ee404367b56262be97ca51b0
Publikováno v:
Genetics and Molecular Biology, Vol 21, Iss 1 (1998)
The authors describe two additional cases of Geleophysic dysplasia in siblings, which is a rare autosomal recessive disorder of glycoprotein metabolism whose basic defects remain to be determined.Os autores descrevem dois novos casos de displasia Gel
Externí odkaz:
https://doaj.org/article/476425878e564f60b530df6159a203db
Autor:
Raquel Boy, Márcia Mattos Gonçalves Pimentel, Ana Paula Hemerly, Maria do Perpétuo Socorro Silva, Ana Paula Barreiro, José Carlos Cabral de Almeida, Juan Llerena
Publikováno v:
Genetics and Molecular Biology, Vol 21, Iss 1 (1998)
The authors report an additional case of partial monosomy of the long arm of chromosome 6 [46,XY,del (6)(q22 ® qter)]. Our patient has a large segment beyond 6q25 deleted, then severe psychomotor retardation is expected to occur.Os autores descrevem
Externí odkaz:
https://doaj.org/article/77d79a1137c94e4da71daeedcb4d9e12
Autor:
Juan C. Llerena, Maria de Jesus Esteves Camilo, Milene Mulatinho, Héctor N. Seuánez, José Carlos Cabral de Almeida, Lúcia de Fátima Marques de Moraes, Fernando Regla Vargas, Hilda I.B. Ramos, Leila C.A. Cardoso
Publikováno v:
European Journal of Medical Genetics. 51:588-597
We studied a child with apparent monosomy of chromosome 21. Cytogenetic, FISH and microsatellite analyses revealed a 45,X,-21,+der(X)t(X;21)(q25;q21.1) karyotype resulting from a de novo, unbalanced, X;21 non-reciprocal translocation of paternal orig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ec0d529624ee75a0d45c5459be71116
https://doi.org/10.1016/j.ejmg.2008.06.008
https://doi.org/10.1016/j.ejmg.2008.06.008
Publikováno v:
Arquivos Brasileiros de Endocrinologia & Metabologia. 47:684-694
Em 10 meninas com diagnóstico de baixa estatura idiopática (BEI), realizamos avaliação citogenética após revisão clínica. Dois cariótipos foram anormais: mos 45,X/46,XX; mos 45,X/46,X,der(Xp)/46,X,r(X), e para sua elucidação foram aplicada
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::326c78fced0bda3360578fccda85091f
https://doi.org/10.1590/s0004-27302003000600010
https://doi.org/10.1590/s0004-27302003000600010
Autor:
Alexander G. Duarte, José Carlos Cabral de Almeida, Decio Brunoni, Fernando Regla Vargas, Gideon Koren, Antonio Addis, Denise P. Cavalcanti, Lilian Maria José Albano, Vera Ayres Meloni, Juan C. Llerena, Sofia Mizuho Miura Sugayama, Lavinia Schuler-Faccini, Eny Maria Goloni-Bertollo, A. Conte, Chong Ae Kim
Publikováno v:
American Journal of Medical Genetics. 95:302-306
Prenatal exposure to misoprostol has been associated with Moebius and limb defects. Vascular disruption has been proposed as the mechanism for these teratogenic effects. The present study is a multicenter, case-control study that was designed to comp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::611f207f0401c97cda2f4ae9f1e24513
https://doi.org/10.1002/1096-8628(20001211)95:4<302::aid-ajmg2>3.0.co
https://doi.org/10.1002/1096-8628(20001211)95:4<302::aid-ajmg2>3.0.co
Autor:
Christine A Joyce, Lúcia Moraes, Elenice Bastos, Patricia Correia, Antonio Abílio Santa Rose, José Carlos Cabral de Almeida, Juan Llerena
Publikováno v:
Clinical Genetics. 56:86-92
A de novo complex chromosome rearrangement (CCR) involving chromosomes 1, 6, 7, 15 and Y was detected in a boy with mental retardation, short stature, and microcephaly. Fluorescence in situ hybridisation (FISH) with whole chromosome painting librarie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bb47d2c496252fb06cdd05a6009f3b5e
https://doi.org/10.1034/j.1399-0004.1999.560113.x
https://doi.org/10.1034/j.1399-0004.1999.560113.x
Autor:
Walther Vogel, Walter Just, Annette Baumstark, M. Djalali, Gotthold Barbi, José Carlos Cabral de Almeida, Juan Clinton LlerenaJr, Fernando Regla Vargas, Torsten Mattfeldt, Beate Mitulla, Claudia Geerkens
Publikováno v:
Human Genetics. 97:79-86
Duplications in Xp including the DSS (dosage sensitive sex reversal) region cause male to female sex reversal. We investigated two patients from families with Xp duplications. The first case was one of two sisters with karyotype 46,XY, der(22), t(X;2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2267d87e5b0acdceb9757fae9c6f0479
https://doi.org/10.1007/bf00218838
https://doi.org/10.1007/bf00218838
Autor:
Juan Clinton Llerena, Raquel Boy, Joäo Gonçalves Barbosa Neto, José Carlos Cabral de Almeida, Fernando Regla Vargas, Dafne Dain Gandelman Horovitz
Publikováno v:
American Journal of Medical Genetics. 57:605-609
We describe a family with Stanescu osteosclerosis. The propositus and his mother were short and had cortical sclerosis of the long bones, deficient facial sinus development, cranial bone malformations, and normal intelligence. To the best of our know
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a94c49c9e1b9275c5cea3e9a38ae9df
https://doi.org/10.1002/ajmg.1320570418
https://doi.org/10.1002/ajmg.1320570418
Autor:
Monica de Paula, Jung, Maria Helena Cabral de Almeida, Cardoso, Maria Auxiliadora Monteiro, Villar, José Carlos, Cabral de Almeida
Publikováno v:
Historia, ciencias, saude--Manguinhos. 16(2)
Based on an interview with José Carlos Cabral de Almeida, who took part in the investigative process, the article explores the research that culminated in the establishment of the genetic etiology of Turner syndrome. Cabral de Almeida also discusses
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::96f7914f38d8fbcb18de66b6ed9ce942
https://pubmed.ncbi.nlm.nih.gov/19856749
https://pubmed.ncbi.nlm.nih.gov/19856749