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

CDK4 loss-of-function mutations cause microcephaly and short stature.

CDK4 功能丧失突变会导致小头畸形和身材矮小

Verdu Schlie Aitana, Leitch Andrea, Arismendi Maria Izabel, Stok Colin, Castro Leal Andrea, Parry David A, Marcondes Lerario Antonio, Harley Margaret E, Lucheze Bruna, Carroll Paula L, Musialik Kamila I, Auer Julia M T, Martin Carol-Anne, Gerasimavicius Lukas, Quigley Alan J, de Menezes Correia-Deur Joya Emilie, Marsh Joseph A, Reijns Martin A M, Lampe Anne K, Jackson Andrew P, Jorge Alexander A L, Tamayo-Orrego Lukas

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

新发和遗传性TCF20致病变异与智力障碍、面部畸形、肌张力低下和神经系统损伤相关,其症状与史密斯-马吉尼斯综合征相似。

Vetrini, Francesco; McKee, Shane; Rosenfeld, Jill A; Suri, Mohnish; Lewis, Andrea M; Nugent, Kimberly Margaret; Roeder, Elizabeth; Littlejohn, Rebecca O; Holder, Sue; Zhu, Wenmiao; Alaimo, Joseph T; Graham, Brett; Harris, Jill M; Gibson, James B; Pastore, Matthew; McBride, Kim L; Komara, Makanko; Al-Gazali, Lihadh; Al Shamsi, Aisha; Fanning, Elizabeth A; Wierenga, Klaas J; Scott, Daryl A; Ben-Neriah, Ziva; Meiner, Vardiella; Cassuto, Hanoch; Elpeleg, Orly; Holder, J Lloyd Jr; Burrage, Lindsay C; Seaver, Laurie H; Van Maldergem, Lionel; Mahida, Sonal; Soul, Janet S; Marlatt, Margaret; Matyakhina, Ludmila; Vogt, Julie; Gold, June-Anne; Park, Soo-Mi; Varghese, Vinod; Lampe, Anne K; Kumar, Ajith; Lees, Melissa; Holder-Espinasse, Muriel; McConnell, Vivienne; Bernhard, Birgitta; Blair, Ed; Harrison, Victoria; Muzny, Donna M; Gibbs, Richard A; Elsea, Sarah H; Posey, Jennifer E; Bi, Weimin; Lalani, Seema; Xia, Fan; Yang, Yaping; Eng, Christine M; Lupski, James R; Liu, Pengfei

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

更正:新生和遗传性TCF20致病变异与智力障碍、面部畸形、肌张力低下和神经系统损伤相关,其症状与史密斯-马吉尼斯综合征相似。

Vetrini, Francesco; McKee, Shane; Rosenfeld, Jill A; Suri, Mohnish; Lewis, Andrea M; Nugent, Kimberly Margaret; Roeder, Elizabeth; Littlejohn, Rebecca O; Holder, Sue; Zhu, Wenmiao; Alaimo, Joseph T; Graham, Brett; Harris, Jill M; Gibson, James B; Pastore, Matthew; McBride, Kim L; Komara, Makanko; Al-Gazali, Lihadh; Al Shamsi, Aisha; Fanning, Elizabeth A; Wierenga, Klaas J; Scott, Daryl A; Ben-Neriah, Ziva; Meiner, Vardiella; Cassuto, Hanoch; Elpeleg, Orly; Lloyd Holder, J Jr; Burrage, Lindsay C; Seaver, Laurie H; Van Maldergem, Lionel; Mahida, Sonal; Soul, Janet S; Marlatt, Margaret; Matyakhina, Ludmila; Vogt, Julie; Gold, June-Anne; Park, Soo-Mi; Varghese, Vinod; Lampe, Anne K; Kumar, Ajith; Lees, Melissa; Holder-Espinasse, Muriel; McConnell, Vivienne; Bernhard, Birgitta; Blair, Ed; Harrison, Victoria; Muzny, Donna M; Gibbs, Richard A; Elsea, Sarah H; Posey, Jennifer E; Bi, Weimin; Lalani, Seema; Xia, Fan; Yang, Yaping; Eng, Christine M; Lupski, James R; Liu, Pengfei

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

对发育障碍患者DYRK1A基因致病突变的结构分析

Evers, Jochem M G; Laskowski, Roman A; Bertolli, Marta; Clayton-Smith, Jill; Deshpande, Charu; Eason, Jacqueline; Elmslie, Frances; Flinter, Frances; Gardiner, Carol; Hurst, Jane A; Kingston, Helen; Kini, Usha; Lampe, Anne K; Lim, Derek; Male, Alison; Naik, Swati; Parker, Michael J; Price, Sue; Robert, Leema; Sarkar, Ajoy; Straub, Volker; Woods, Geoff; Thornton, Janet M; Wright, Caroline F

Mutations in KCTD1 cause scalp-ear-nipple syndrome

KCTD1基因突变会导致头皮-耳-乳头综合征

Marneros, Alexander G; Beck, Anita E; Turner, Emily H; McMillin, Margaret J; Edwards, Matthew J; Field, Michael; de Macena Sobreira, Nara Lygia; Perez, Ana Beatriz A; Fortes, Jose A R; Lampe, Anne K; Giovannucci Uzielli, Maria Luisa; Gordon, Christopher T; Plessis, Ghislaine; Le Merrer, Martine; Amiel, Jeanne; Reichenberger, Ernst; Shively, Kathryn M; Cerrato, Felecia; Labow, Brian I; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome

人类补体调节因子膜辅因子蛋白(CD46)的突变是家族性溶血性尿毒综合征的易感因素。

Richards, Anna; Kemp, Elizabeth J; Liszewski, M Kathryn; Goodship, Judith A; Lampe, Anne K; Decorte, Ronny; Müslümanoğlu, M Hamza; Kavukcu, Salih; Filler, Guido; Pirson, Yves; Wen, Leana S; Atkinson, John P; Goodship, Timothy H J