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

First case of two supernumerary markers derived from chromosome 5 and chromosome 8

首例源自5号染色体和8号染色体的两个超数标记

Giansante, Roberta; Palka Bayard De Volo, Chiara; Alfonsi, Melissa; Morizio, Elisena; Guanciali Franchi, Paolo

Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report

伴有 22q11.21 微重复的 Mayer-Rokitansky-Küster-Hauser 综合征:一例病例报告

Domenico Dell'Edera, Arianna Allegretti, Mario Ventura, Ludovica Mercuri, Angela Mitidieri, Giacinto Cuscianna, Annunziata Anna Epifania, Elisena Morizio, Melissa Alfonsi, Paolo Guanciali-Franchi

HNRNPL Restrains miR-155 Targeting of BUB1 to Stabilize Aberrant Karyotypes of Transformed Cells in Chronic Lymphocytic Leukemia

HNRNPL 抑制 miR-155 靶向 BUB1,从而稳定慢性淋巴细胞白血病中转化细胞的异常核型

Sara Pagotto, Angelo Veronese, Alessandra Soranno, Veronica Balatti, Alice Ramassone, Paolo E Guanciali-Franchi, Giandomenico Palka, Idanna Innocenti, Francesco Autore, Laura Z Rassenti, Thomas J Kipps, Renato Mariani-Costantini, Luca Laurenti, Carlo M Croce, Rosa Visone3

Hsa-miR-155-5p drives aneuploidy at early stages of cellular transformation

Hsa-miR-155-5p 在细胞转化的早期阶段驱动非整倍体

Sara Pagotto #, Angelo Veronese #, Alessandra Soranno, Paola Lanuti, Mirco Di Marco, Marco Vincenzo Russo, Alice Ramassone, Marco Marchisio, Pasquale Simeone, Paolo E Guanciali-Franchi, Giandomenico Palka, Renato Mariani Costantini, Carlo M Croce, Rosa Visone

An 11.4-Mb Interstitial Deletion in a Fetus with No Apparent Phenotypic Alterations

胎儿体内存在11.4 Mb间质缺失,但未观察到明显的表型改变

Guanciali-Franchi, Paolo; Celentano, Claudio; Alfonsi, Melissa; Palka, Chiara; Di Pasqua, Giulietta; Matarrelli, Barbara; Palka, Giandomenico

Aneuploidy screening using circulating fetal cells in maternal blood by dual-probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women

通过双探针 FISH 方案使用母血中的循环胎儿细胞进行非整倍体筛查:对 172 名孕妇进行的前瞻性可行性研究

Giuseppe Calabrese, Donatella Fantasia, Melissa Alfonsi, Elisena Morizio, Claudio Celentano, Paolo Guanciali Franchi, Giulia Sabbatinelli, Chiara Palka, Peter Benn, Gianmaria Sitar

Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation

一名患有多发性外生骨疣和智力障碍的女性,其波托基-沙弗综合征的诊断被延误

Palka, C; Alfonsi, M; Mohn, A; Guanciali Franchi, P; Chiarelli, F; Calabrese, G

SHOX mutations detected by FISH and direct sequencing in patients with short stature

通过FISH和直接测序检测矮小症患者的SHOX基因突变

Stuppia, L; Calabrese, G; Gatta, V; Pintor, S; Morizio, E; Fantasia, D; Guanciali Franchi, P; Rinaldi, M M; Scarano, G; Concolino, D; Giannotti, A; Petreschi, F; Anzellotti, M T; Pomilio, M; Chiarelli, F; Tumini, S; Palka, G

A new case of Yq microdeletion transmitted from a normal father to two infertile sons

一例新的Yq微缺失病例,由一位健康的父亲遗传给两个不育的儿子。

Gatta, V; Stuppia, L; Calabrese, G; Morizio, E; Guanciali-Franchi, P; Palka, G

Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene

Y染色体缺失在区间6的E子区间聚集,支持DAZ基因外存在少精子症关键区域的观点。

Stuppia, L; Gatta, V; Mastroprimiano, G; Pompetti, F; Calabrese, G; Guanciali Franchi, P; Morizio, E; Mingarelli, R; Nicolai, M; Tenaglia, R; Improta, L; Sforza, V; Bisceglia, S; Palka, G