日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW

普拉德-威利综合征:儿科医生应该怎么做?——综述

Passone, Caroline Buff Gouveia; Pasqualucci, Paula Lage; Franco, Ruth Rocha; Ito, Simone Sakura; Mattar, Larissa Baldini Farjalla; Koiffmann, Celia Priszkulnik; Soster, Leticia Azevedo; Carneiro, Jorge David Aivazoglou; Cabral Menezes-Filho, Hamilton; Damiani, Durval

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

对279例综合征性肥胖患者进行染色体微阵列分析的基因评估。

D'Angelo, Carla Sustek; Varela, Monica Castro; de Castro, Claudia Irene Emílio; Otto, Paulo Alberto; Perez, Ana Beatriz Alvarez; Lourenço, Charles Marques; Kim, Chong Ae; Bertola, Debora Romeo; Kok, Fernando; Garcia-Alonso, Luis; Koiffmann, Celia Priszkulnik

Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity

两例新的1p21.3缺失和一例不平衡易位t(8;12)病例,均发生于综合征性肥胖患者中

D'Angelo, Carla S; Moller Dos Santos, Mauren F; Alonso, Luis G; Koiffmann, Celia P

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

PIP基因的种系缺失是否构成癌症的普遍风险?

Silva, Amanda G; Krepischi, Ana C V; Torrezan, Giovana T; Capelli, Leonardo P; Carraro, Dirce M; D'Angelo, Carla S; Koiffmann, Celia P; Zatz, Mayana; Naslavsky, Michel S; Masotti, Cibele; Otto, Paulo A; Achatz, Maria I W; Mills, Ryan E; Lee, Charles; Pearson, Peter L; Rosenberg, Carla

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes

利用合成探针通过多重连接依赖性探针扩增技术,对338例患有综合征性肥胖症的患者队列中的特定基因组缺失和重复进行研究

D'Angelo, Carla S; Varela, Monica C; de Castro, Cláudia Ie; Kim, Chong A; Bertola, Débora R; Lourenço, Charles M; Perez, Ana Beatriz A; Koiffmann, Celia P

Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches

肥胖相关综合征中的拷贝数变异:综述及新型分子方法展望

D'Angelo, Carla Sustek; Koiffmann, Celia Priszkulnik

Synteny of human chromosomes 14 and 15 in the platyrrhines (Primates, Platyrrhini)

阔鼻猴(灵长类动物,阔鼻猴亚目)中人类14号和15号染色体的同源性

Gifalli-Iughetti, Cristiani; Koiffmann, Célia P

Rett syndrome in a boy with a 47,XXY karyotype

一名核型为 47,XXY 的男孩患有雷特综合征

Salomão Schwartzman, J; Zatz, M; dos Reis Vasquez, L; Ribeiro Gomes, R; Koiffmann, C P; Fridman, C; Guimarães Otto, P

Association among quantitative, chromosomal and enzymatic traits in a natural population of Drosophila melanogaster

在果蝇(Drosophila melanogaster)自然种群中,数量性状、染色体性状和酶性状之间的关联性

Cunha, Pricila da Silva; Pena, Heloisa B; D'Angelo, Carla Sustek; Koiffmann, Celia P; Rosenfeld, Jill A; Shaffer, Lisa G; Stofanko, Martin; Gonçalves-Dornelas, Higgor; Pena, Sérgio Danilo Junho; Hernández, M; Larruga, JM; González, AM; Cabrera, VM