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

Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series

两例胎儿EFTUD2单倍体功能不全的产前超声和基因诊断:病例系列

Kucińska, Agata; Dudarewicz, Lech; Nowakowska, Beata Anna; Geremek, Maciej; Wysocka, Urszula; Przesór, Łukasz; Barańska, Dobromiła; Grzelak, Piotr; Gach, Agnieszka

Risk of meningomyelocele mediated by the common 22q11.2 deletion

常见的22q11.2缺失介导的脊髓脊膜膨出风险

Vong, Keng Ioi; Lee, Sangmoon; Au, Kit Sing; Crowley, T Blaine; Capra, Valeria; Martino, Jeremiah; Haller, Meade; Araújo, Camila; Machado, Hélio R; George, Renee; Gerding, Bryn; James, Kiely N; Stanley, Valentina; Jiang, Nan; Alu, Kameron; Meave, Naomi; Nidhiry, Anna S; Jiwani, Fiza; Tang, Isaac; Nisal, Ashna; Jhamb, Ishani; Patel, Arzoo; Patel, Aakash; McEvoy-Venneri, Jennifer; Barrows, Chelsea; Shen, Celina; Ha, Yoo-Jin; Howarth, Robyn; Strain, Madison; Ashley-Koch, Allison Elizabeth; Azam, Matloob; Mumtaz, Sara; Bot, Gyang Markus; Finnell, Richard H; Kibar, Zoha; Marwan, Ahmed I; Melikishvili, Gia; Meltzer, Hal S; Mutchinick, Osvaldo M; Stevenson, David A; Mroczkowski, Henry J; Ostrander, Betsy; Schindewolf, Erica; Moldenhauer, Julie; Zackai, Elaine H; Emanuel, Beverly S; Garcia-Minaur, Sixto; Nowakowska, Beata A; Stevenson, Roger E; Zaki, Maha S; Northrup, Hope; McNamara, Hanna K; Aldinger, Kimberly A; Phelps, Ian G; Deng, Mei; Glass, Ian A; Morrow, Bernice; McDonald-McGinn, Donna M; Sanna-Cherchi, Simone; Lamb, Dolores J; Gleeson, Joseph G

Valproic Acid Confers Functional Pluripotency to Human Amniotic Fluid Stem Cells in a Transgene-free Approach

丙戊酸以非转基因方式赋予人羊水干细胞功能性多能性

Moschidou, Dafni; Mukherjee, Sayandip; Blundell, Michael P; Drews, Katharina; Jones, Gemma N; Abdulrazzak, Hassan; Nowakowska, Beata; Phoolchund, Anju; Lay, Kenneth; Ramasamy, T Selvee; Cananzi, Mara; Nettersheim, Daniel; Sullivan, Mark; Frost, Jennifer; Moore, Gudrun; Vermeesch, Joris R; Fisk, Nicholas M; Thrasher, Adrian J; Atala, Anthony; Adjaye, James; Schorle, Hubert; De Coppi, Paolo; Guillot, Pascale V

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age

22q11.2缺失综合征的产前诊断与产后诊断:1岁前的心脏和非心脏结局

Freud, Lindsay R; Galloway, Stephanie; Crowley, T Blaine; Moldenhauer, Julie; Swillen, Ann; Breckpot, Jeroen; Borrell, Antoni; Vora, Neeta L; Cuneo, Bettina; Hoffman, Hilary; Gilbert, Lisa; Nowakowska, Beata; Geremek, Maciej; Kutkowska-Kaźmierczak, Anna; Vermeesch, Joris R; Devriendt, Koen; Busa, Tiffany; Sigaudy, Sabine; Vigneswaran, Trisha; Simpson, John M; Dungan, Jeffrey; Gotteiner, Nina; Gloning, Karl-Philipp; Digilio, Maria Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Repetto, Gabriela; Fadic, Magdalena; Garcia-Minaur, Sixto; Achón Buil, Ana; Thomas, Mary Ann; Fruitman, Deborah; Beecroft, Taylor; Hui, Pui Wah; Oskarsdottir, Solveig; Bradshaw, Rachael; Criebaum, Amanda; Norton, Mary E; Lee, Tiffany; Geiger, Miwa; Dunnington, Leslie; Isaac, Jacqueline; Wilkins-Haug, Louise; Hunter, Lindsey; Izzi, Claudia; Toscano, Marika; Ghi, Tullio; McGlynn, Julie; Romana Grati, Francesca; Emanuel, Beverly S; Gaiser, Kimberly; Gaynor, J William; Goldmuntz, Elizabeth; McGinn, Daniel E; Schindewolf, Erica; Tran, Oanh; Zackai, Elaine H; Yan, Qi; Bassett, Anne S; Wapner, Ronald; McDonald-McGinn, Donna M

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions

22q11.2微缺失的产前筛查和诊断注意事项

Blagowidow, Natalie; Nowakowska, Beata; Schindewolf, Erica; Grati, Francesca Romana; Putotto, Carolina; Breckpot, Jeroen; Swillen, Ann; Crowley, Terrence Blaine; Loo, Joanne C Y; Lairson, Lauren A; Óskarsdóttir, Sólveig; Boot, Erik; Garcia-Minaur, Sixto; Cristina Digilio, Maria; Marino, Bruno; Coleman, Beverly; Moldenhauer, Julie S; Bassett, Anne S; McDonald-McGinn, Donna M

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome

伴随疾病影响22q11.2缺失综合征患者的表型

Smyk, Marta; Geremek, Maciej; Ziemkiewicz, Kamila; Gambin, Tomasz; Kutkowska-Kaźmierczak, Anna; Kowalczyk, Katarzyna; Plaskota, Izabela; Wiśniowiecka-Kowalnik, Barbara; Bartnik-Głaska, Magdalena; Niemiec, Magdalena; Grad, Dominika; Piotrowicz, Małgorzata; Gieruszczak-Białek, Dorota; Pietrzyk, Aleksandra; Crowley, T Blaine; Giunta, Victoria; McGinn, Daniel E; Zackai, Elaine H; Tran, Oanh; Emanuel, Beverly S; McDonald-McGinn, Donna M; Nowakowska, Beata A

Comparative Genomic Hybridization to Microarrays in Fetuses with High-Risk Prenatal Indications: Polish Experience with 7400 Pregnancies

比较基因组杂交技术在具有高危产前指征的胎儿中的应用:波兰7400例妊娠的经验

Kowalczyk, Katarzyna; Bartnik-Głaska, Magdalena; Smyk, Marta; Plaskota, Izabela; Bernaciak, Joanna; Kędzior, Marta; Wiśniowiecka-Kowalnik, Barbara; Deperas, Marta; Domaradzka, Justyna; Łuszczek, Alicja; Dutkiewicz, Daria; Kozar, Agata; Grad, Dominika; Niemiec, Magdalena; Ziemkiewicz, Kamila; Magdziak, Róża; Braun-Walicka, Natalia; Barczyk, Artur; Geremek, Maciej; Castañeda, Jennifer; Kutkowska-Kaźmierczak, Anna; Własienko, Paweł; Jakubów-Durska, Krystyna; Dębska, Marzena; Kucińska-Chahwan, Anna; Kozłowski, Szymon; Mikulska, Boyana; Issat, Tadeusz; Roszkowski, Tomasz; Nawara-Baran, Agnieszka; Runge, Agata; Jakubiuk-Tomaszuk, Anna; Kruczek, Anna; Kostyk, Ewa; Pietras, Grzegorz; Limon, Janusz; Zwoliński, Jerzy; Ochman, Karolina; Szajner, Tomasz; Węgrzyn, Piotr; Wielgoś, Mirosław; Sąsiadek, Maria; Obersztyn, Ewa; Nowakowska, Beata Anna

Genetic Background of Fetal Growth Restriction

胎儿生长受限的遗传背景

Nowakowska, Beata Anna; Pankiewicz, Katarzyna; Nowacka, Urszula; Niemiec, Magdalena; Kozłowski, Szymon; Issat, Tadeusz

The Presence of Mycotoxins in Human Amniotic Fluid

人类羊水中霉菌毒素的存在

Gromadzka, Karolina; Pankiewicz, Jakub; Beszterda, Monika; Paczkowska, Magdalena; Nowakowska, Beata; Kocyłowski, Rafał

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

通过无创产前检测发现胎盘2号染色体三体综合征,胎儿体内存在一条小的超数标记染色体(sSMC)。

Domaradzka, Justyna; Deperas, Marta; Obersztyn, Ewa; Kucińska-Chahwan, Anna; Brison, Nathalie; Van Den Bogaert, Kris; Roszkowski, Tomasz; Kędzior, Marta; Bartnik-Głaska, Magdalena; Łuszczek, Alicja; Jakubów-Durska, Krystyna; Vermeesch, Joris Robert; Nowakowska, Beata Anna