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

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

黏连蛋白装载亚基 MAU2 的致病变异是 Cornelia de Lange 综合征的一个独特亚型的根本原因。

Parenti Ilaria, Hesters Alina, Gil-Salvador Marta, Duffy Laura, Kanber Deniz, Beygo Jasmin, Kerkhof Jennifer, Steenpaß Laura, Leitão Elsa, Woestefeld Julia, Boone Philip M, Kao Emeline M, Alabdi Lama, Aldhalaan Hesham M, Alkuraya Fowzan S, Alshammari Muneera J, Antonarakis Stylianos E, Basel Donald, Cassinari Kevin, de Polli Cellin Laurana, Clause Amanda R, de Lima Jorge Alexander Augusto, de Castro Leal Andréa, Collins Stephan C, Durand Benjamin, Eckhold Juliane, Hashem Mais O, Jayakar Parul, Khan Arif O, Kato Kohji, Kubica Regina, Lyon Gholson J, Marchi Elaine, McCarrier Julie, Kimmig Lara K, Mizuno Seiji, Nicolas Gael, Nishio Yosuke, Ogi Tomoo, Pié Juan, Prell Jordyn, Puisac Beatriz, Ramos Feliciano J, Ranza Emmanuelle, Redin Claire, Rush Eric, Saitoh Shinji, Shamseldin Hanan E, Starling Susan, Astiazaran-Symonds Esteban, Eltahir Sara H, Kuechler Alma, Sadikovic Bekim, Yalcin Binnaz, Wendt Kerstin S, Kaiser Frank J

Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants

携带ALPL变异的无症状个体低磷酸血症的生化表型

Montero-Lopez, Rodrigo; Farman, Mariam R; Högler, Florian; Rehder, Catherine; Malli, Theodora; Webersinke, Gerald; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Ángel; Linglart, Agnès; Ozono, Keiichi; Seefried, Lothar; Del Angel, Guillermo; Nading, Erica Burner; Huggins, Erin; Rush, Eric T; Tauer, Josephine T; Kishnani, Priya S; Högler, Wolfgang

X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline

儿童X连锁低磷血症的管理:国际工作组临床实践指南

Ali, Dalal S; Carpenter, Thomas O; Imel, Erik A; Ward, Leanne M; Appelman-Dijkstra, Natasha M; Chaussain, Catherine; Jan de Beur, Suzanne M; Florenzano, Pablo; Abu Alrob, Hajar; Aldabagh, Rana; Alexander, R Todd; Alsarraf, Farah; Beck-Nielsen, Signe Sparre; Biosse-Duplan, Martin; Crowley, Rachel K; Dandurand, Karel; Filler, Guido; Friedlander, Lisa; Fukumoto, Seiji; Gagnon, Claudia; Goodyer, Paul; Grasemann, Corinna; Grimbly, Chelsey; Hussein, Salma; Javaid, Muhammad K; Khan, Sarah; Khan, Aneal; Lehman, Anna; Lems, Willem F; Lewiecki, E Michael; McDonnell, Ciara; Mirza, Reza D; Morgante, Emmett; Morrison, Archibald; Portale, Anthony A; Rao, Christina; Rhee, Yumie; Rush, Eric T; Siggelkow, Heide; Tetradis, Sotirios; Tosi, Laura; Guyatt, Gordon; Brandi, Maria Luisa; Khan, Aliya A

X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline

成人X连锁低磷血症的管理:国际工作组临床实践指南

Khan, Aliya A; Ali, Dalal S; Appelman-Dijkstra, Natasha M; Carpenter, Thomas O; Chaussain, Catherine; Imel, Erik A; Jan de Beur, Suzanne M; Florenzano, Pablo; Abu Alrob, Hajar; Aldabagh, Rana; Alexander, R Todd; Alsarraf, Farah; Beck-Nielsen, Signe Sparre; Biosse-Duplan, Martin; Cohen-Solal, Martine; Crowley, Rachel K; Dandurand, Karel; Filler, Guido; Friedlander, Lisa; Fukumoto, Seiji; Gagnon, Claudia; Goodyer, Paul; Grasemann, Corinna; Grimbly, Chelsey; Hussein, Salma; Javaid, Muhammad K; Khan, Sarah; Khan, Aneal; Lehman, Anna; Lems, Willem F; Lewiecki, E Michael; McDonnell, Ciara; Mirza, Reza D; Morgante, Emmett; Morrison, Archibald; Portale, Anthony A; Rhee, Yumie; Rush, Eric T; Siggelkow, Heide; Tetradis, Sotirios; Tosi, Laura; Ward, Leanne M; Guyatt, Gordon; Brandi, Maria Luisa

Key Learnings from Clinical Research and Real-World Evidence on Asfotase Alfa Effectiveness in Hypophosphatasia: 10 Years Post-Approval

阿司匹林α治疗低磷酸血症疗效的临床研究和真实世界证据的关键经验:获批10年后

Khan, Aliya A; Rush, Eric T; Wakeford, Craig; Staub, Daniel; Brandi, Maria Luisa

Revisiting the Genetics of Hypophosphatasia

重新审视低磷酸血症的遗传学

Kishnani, Priya S; Rehder, Catherine; Ozono, Keiichi; Pérez-López, Jordi; Del Angel, Guillermo; Mowrey, William R; Balasubramanian, Meena; Högler, Wolfgang; Rush, Eric T

The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data

全球低磷酸酶症登记处:从十年真实世界数据中汲取的经验教训

Kishnani, Priya S; Seefried, Lothar; Ozono, Keiichi; Martos-Moreno, Gabriel Ángel; Rockman-Greenberg, Cheryl; Fowler, Deborah; Burke, Luke K; Mowrey, William R; Rush, Eric T; Ebeling, Peter R; Högler, Wolfgang; Linglart, Agnès; Fang, Shona; Petryk, Anna; Dahir, Kathryn M

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

黏连蛋白装载亚基 MAU2 的致病性变异导致一种新的科内莉亚·德·兰格综合征亚型

Parenti, Ilaria; Hesters, Alina; Gil-Salvador, Marta; Duffy, Laura; Kanber, Deniz; Beygo, Jasmin; Kerkhof, Jennifer; Steenpaß, Laura; Leitão, Elsa; Woestefeld, Julia; Boone, Philip M; Kao, Emeline M; Alabdi, Lama; Aldhalaan, Hesham M; Alkuraya, Fowzan S; Alshammari, Muneera J; Antonarakis, Stylianos E; Basel, Donald; Cassinari, Kevin; de Polli Cellin, Laurana; Clause, Amanda R; de Lima Jorge, Alexander Augusto; de Castro Leal, Andréa; Collins, Stephan C; Durand, Benjamin; Eckhold, Juliane; Hashem, Mais O; Jayakar, Parul; Khan, Arif O; Kato, Kohji; Kubica, Regina; Lyon, Gholson J; Marchi, Elaine; McCarrier, Julie; Kimmig, Lara K; Mizuno, Seiji; Nicolas, Gael; Nishio, Yosuke; Ogi, Tomoo; Pié, Juan; Prell, Jordyn; Puisac, Beatriz; Ramos, Feliciano J; Ranza, Emmanuelle; Redin, Claire; Rush, Eric; Saitoh, Shinji; Shamseldin, Hanan E; Starling, Susan; Astiazaran-Symonds, Esteban; Taher, Sara; Kuechler, Alma; Sadikovic, Bekim; Yalcin, Binnaz; Wendt, Kerstin S; Kaiser, Frank J

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

SEPHS1基因第9外显子上的新生错义突变会导致一种神经发育障碍,其特征包括发育迟缓、生长发育不良、肌张力低下和面部畸形。

Mullegama, Sureni V; Kiernan, Kaitlyn A; Torti, Erin; Pavlovsky, Ethan; Tilton, Nicholas; Sekula, Austin; Gao, Hua; Alaimo, Joseph T; Engleman, Kendra; Rush, Eric T; Blocker, Karli; Dipple, Katrina M; Fettig, Veronica M; Hare, Heather; Glass, Ian; Grange, Dorothy K; Griffin, Michael; Phornphutkul, Chanika; Massingham, Lauren; Mehta, Lakshmi; Miller, Danny E; Thies, Jenny; Merritt, J Lawrence 2nd; Muller, Eric 2nd; Osmond, Matthew; Sawyer, Sarah L; Slaugh, Rachel; Hickey, Rachel E; Wolf, Barry; Choudhary, Sanjeev; Simonović, Miljan; Zhang, Yueqing; Palculict, Timothy Blake; Telegrafi, Aida; Carere, Deanna Alexis; Wentzensen, Ingrid M; Morrow, Michelle M; Monaghan, Kristin G; Juusola, Jane; Yang, Jun

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

SEPHS1基因第9外显子上的新生错义突变会导致一种神经发育障碍,其特征包括发育迟缓、生长发育不良、肌张力低下和面部畸形。

Mullegama, Sureni V; Kiernan, Kaitlyn A; Torti, Erin; Pavlovsky, Ethan; Tilton, Nicholas; Sekula, Austin; Gao, Hua; Alaimo, Joseph T; Engleman, Kendra; Rush, Eric T; Blocker, Karli; Dipple, Katrina M; Fettig, Veronica M; Hare, Heather; Glass, Ian; Grange, Dorothy K; Griffin, Michael; Phornphutkul, Chanika; Massingham, Lauren; Mehta, Lakshmi; Miller, Danny E; Thies, Jenny; Merritt, J Lawrence 2nd; Muller, Eric 2nd; Osmond, Matthew; Sawyer, Sarah L; Slaugh, Rachel; Hickey, Rachel E; Wolf, Barry; Choudhary, Sanjeev; Simonović, Miljan; Zhang, Yueqing; Palculict, Timothy Blake; Telegrafi, Aida; Carere, Deanna Alexis; Wentzensen, Ingrid M; Morrow, Michelle M; Monaghan, Kristin G; Yang, Jun; Juusola, Jane