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A highly complex rea(2;3;11) and aniridia by position effect
(2006)
A two-year-old boy presenting with bilateral aniridia and psychomotor retardation had a de novo (2;3;11) highly complex rearrangement which was characterized as far as possible by means of G-banding and FISH assays with ...
Biologia de Anofelinos amazônicos. V. Polimorfismo cromossômico de Anopheles darlingi Root (Diptera, Culicidae)1
(Instituto Nacional de Pesquisas da Amazônia, 1982)
Jhe chromosomic polymorphism of Anopheles darlingi, whose sample was obtained in Highway BR-174 (Manaus/Boa Vista), was here analyzed. Two new independent inversions were described, and the number of rearrangements was ...
Karyotype diversity among predatory Reduviidae (Heteroptera)
(Pensoft Publ, 2015)
Analysis of complex structural variants in the DMD gene in one family
(Pergamon-Elsevier Science Ltd, 2021-03)
This work describes a family with Duchenne Muscular Dystrophy (DMD) with a rare case of a symptomatic pregnant woman. The main aim was to perform prenatal molecular diagnosis to provide genetic counseling. The secondary ...
Integración de marcadores microsatélites en el mapa ultradenso de solanum tuberosum y su comparación con el de solanum phureja
(Universidad Nacional Mayor de San MarcosPE, 2012)
La papa, es el cultivo no cereal más importante del mundo con una producción mundial que ha alcanzado los 329 millones de toneladas anuales. A pesar de la enorme importancia de este cultivo, aún se desconocen aspectos sobre ...
Evolution of multigene families in species with large genomes using Schistocerca grasshoppers as models
(Universidade Estadual Paulista (Unesp), 2021-10-04)
As famílias multigênicas são componentes essenciais dos genomas eucarióticos e desempenham papéis-chave tanto estrutural como funcional. Seus modos de evolução permanecem elusivos mesmo na era da genômica, pois múltiplas ...
Biologia de anofelinós amazônicos. VII. Estudo da variação de freqüências das inversões cromossômicas de Anopheles darlingi Root (Diptera, Culicidae) (1)
(Instituto Nacional de Pesquisas da Amazônia, 1982-12)
Three samples of natural populations of Anopheles darlingi from Km 175 of BR-174 Highway (Manaus/Boa Vista) are here analysed concerning the frequency of the inversions. Two samples were collected during the rainy period ...
Karyotype diversity among predatory Reduviidae (Heteroptera)
(Pensoft Publ, 2015)
Síndrome da deleção do braço curto do cromossomo 18: avaliação clínica e citogenômica
(Universidade Federal de São Paulo (UNIFESP), 2016-03-30)
Chromosome 18p deletion syndrome [del(18p)] (OMIM 146390) has been well described in the literature with over 300 patients reported on, but few of them evaluated by cytogenomic techniques. Objective: We studied 12 patients ...
Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case Report
(Wiley-Liss Inc., 2015)