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

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

TMEM184B 的致病性变异会导致一种与代谢信号改变相关的神经发育综合征。

Chapman, Kimberly A; Ullah, Farid; Yahiku, Zachary A; Khan, Sheraz; Kodiparthi, Sri Varsha; Kellaris, Georgios; White, Hazel G; Powell, Andrew T; Correia, Sandrina P; Stödberg, Tommy; Sofocleous, Christalena; Marinakis, Nikolaos M; Fryssira, Helena; Tsoutsou, Eirini; Traeger-Synodinos, Jan; Accogli, Andrea; Sciruicchio, Vittorio; Salpietro, Vincenzo; Striano, Pasquale; Muss, Candace; Keren, Boris; Heron, Delphine; Berger, Seth I; Pond, Kelvin W; Sirimulla, Suman; Davis, Erica E; Bhattacharya, Martha R C

A rare combination of hypogonadotropic hypogonadism, GH deficiency and rectal atresia in a female with an FGFR1 variant: a case report and systematic review of the literature

一例罕见的低促性腺激素性性腺功能减退症、生长激素缺乏症和直肠闭锁合并FGFR1变异女性患者:病例报告及文献系统综述

Alexandraki, Krystallenia I; Violetis, Odysseas; Memi, Eleni; Fryssira, Helen; Papanikolaou, Vasileios; Papagianni, Maria; Mastorakos, George

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome via alteration of metabolic signaling

TMEM184B 致病变异通过改变代谢信号引起神经发育综合征

Kimberly A Chapman, Farid Ullah, Zachary A Yahiku, Sri Varsha Kodiparthi, Georgios Kellaris, Sandrina P Correia, Tommy Stödberg, Christalena Sofokleous, Nikolaos M Marinakis, Helena Fryssira, Eirini Tsoutsou, Jan Traeger-Synodinos, Andrea Accogli, Vincenzo Salpietro, Pasquale Striano, Seth I Berger,

FOXI3 pathogenic variants cause one form of craniofacial microsomia

FOXI3致病变异会导致一种颅面短小症。

Ke Mao # ,Christelle Borel # ,Muhammad Ansar # ,Angad Jolly ,Periklis Makrythanasis ,Christine Froehlich ,Justyna Iwaszkiewicz ,Bingqing Wang ,Xiaopeng Xu ,Qiang Li ,Xavier Blanc ,Hao Zhu ,Qi Chen ,Fujun Jin ,Harinarayana Ankamreddy ,Sunita Singh ,Hongyuan Zhang ,Xiaogang Wang ,Peiwei Chen ,Emmanuelle Ranza ,Sohail Aziz Paracha ,Syed Fahim Shah ,Valentina Guida ,Francesca Piceci-Sparascio ,Daniela Melis ,Bruno Dallapiccola ,Maria Cristina Digilio ,Antonio Novelli ,Monia Magliozzi ,Maria Teresa Fadda ,Haley Streff ,Keren Machol ,Richard A Lewis ,Vincent Zoete ,Gabriella Maria Squeo ,Paolo Prontera ,Giorgia Mancano ,Giulia Gori ,Milena Mariani ,Angelo Selicorni ,Stavroula Psoni ,Helen Fryssira ,Sofia Douzgou ,Sandrine Marlin ,Saskia Biskup ,Alessandro De Luca ,Giuseppe Merla ,Shouqin Zhao ,Timothy C Cox ,Andrew K Groves ,James R Lupski ,Qingguo Zhang ,Yong-Biao Zhang ,Stylianos E Antonarakis

Cantú Syndrome Associated with Ovarian Agenesis

坎图综合征伴卵巢发育不全

Fryssira, Helena; Psoni, Stavroula; Amenta, Styliani; Tsoutsou, Eirini; Sofocleous, Christalena; Manolakos, Emmanouil; Gavra, Maria; Lüdecke, Hermann-Joseph; Czeschik, Johanna-Christina

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene

罗特蒙德-汤姆森综合征:RECQL4 和 USB1 (C16orf57) 基因中新的致病突变和变异频率

Suter, Aude-Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay

一名患有小头畸形、癫痫和严重发育迟缓的婴儿,被诊断为14q部分单体,涉及FOXG1和NOVA1基因。

Fryssira, H; Tsoutsou, E; Psoni, S; Amenta, S; Liehr, T; Anastasakis, E; Skentou, Ch; Ntouflia, A; Papoulidis, I; Manolakos, E; Chaliasos, N

Medical genetics and genomic medicine in Greece: achievements and challenges

希腊的医学遗传学和基因组医学:成就与挑战

Manoli, Irini; Fryssira, Helen

An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4

8q23.1-q24.12 区域的间质缺失与 Langer-Giedion 综合征/毛发鼻指骨综合征 (TRPS) II 型和 Cornelia de Lange 综合征 4 相关

Selenti, Nikoletta; Tzetis, Maria; Braoudaki, Maria; Gianikou, Krinio; Kitsiou-Tzeli, Sofia; Fryssira, Helen

Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4

更正:8q23.1-q24.12 区段的间质缺失与 Langer-Giedion 综合征/ II 型毛发鼻指骨综合征 (TRPS) 和 Cornelia de Lange 综合征 4 相关

Selenti, Nikoletta; Tzetis, Maria; Braoudaki, Maria; Giannikou, Krinio; Kitsiou-Tzeli, Sofia; Fryssira, Helen