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Items: 1 to 20 of 500

1.
Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Stephen Ashwal, David Michelson, Lauren Plawner, William B. Dobyns
Neurology. 2009 Sep 15; 73(11): 887–897. doi: 10.1212/WNL.0b013e3181b783f7
PMCID:
PMC2744281
ArticlePubReaderPDF–1.9MCite
2.
Noonan syndrome: rhGH treatment and PTPN11 mutation
Xian Wu, Jiali Wu, Yi Yuan, Li Yang, Lirong Yu
Mol Genet Genomic Med. 2023 Nov; 11(11): e2266. Published online 2023 Aug 1. doi: 10.1002/mgg3.2266
PMCID:
PMC10655517
ArticlePubReaderPDF–394KCite
3.
Next‐generation sequencing through multi‐gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome
Xinyi Wang, Yue Li, Anqi Zhao, Yumeng Wang, Qiaoyu Cao, Chaolan Pan, Ming Li
Mol Genet Genomic Med. 2023 Nov; 11(11): e2254. Published online 2023 Aug 17. doi: 10.1002/mgg3.2254
PMCID:
PMC10655510
ArticlePubReaderPDF–1.6MCite
4.
Functional analysis of two SLC9A6 frameshift variants in lymphoblastoid cells from patients with Christianson syndrome
Hailan He, Huiwen Zhang, Hui Chen, Fang He, Fei Yin, Tobias Stauber, Xiaomin Zou, Jing Peng
CNS Neurosci Ther. 2023 Dec; 29(12): 4059–4069. Published online 2023 Jun 28. doi: 10.1111/cns.14329
PMCID:
PMC10651982
ArticlePubReaderPDF–6.3MCite
5.
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis
Ana Marín-Quílez, Christian Andrea Di Buduo, Lorena Díaz-Ajenjo, Vittorio Abbonante, Elena Vuelta, Paolo Maria Soprano, Cristina Miguel-García, Sandra Santos-Mínguez, Inmaculada Serramito-Gómez, Pedro Ruiz-Sala, María Jesús Peñarrubia, Emilia Pardal, Jesús María Hernández-Rivas, José Ramón González-Porras, Ignacio García-Tuñón, Rocío Benito, José Rivera, Alessandra Balduini, José María Bastida
Blood. 2023 Jan 26; 141(4): 406–421. Published online 2022 Nov 21. doi: 10.1182/blood.2022016995
PMCID:
PMC10644051
ArticlePubReaderCite
6.
Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation
Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen
EMBO Mol Med. 2023 Nov; 15(11): e17973. Published online 2023 Oct 6. doi: 10.15252/emmm.202317973
PMCID:
PMC10630875
ArticlePubReaderPDF–3.9MCite
7.
Rebalancing polyamine levels to treat Snyder–Robinson syndrome
Susan K Gilmour
EMBO Mol Med. 2023 Nov; 15(11): e18506. Published online 2023 Sep 15. doi: 10.15252/emmm.202318506
PMCID:
PMC10630864
ArticlePubReaderPDF–353KCite
8.
Neurovascular unit disruption and blood–brain barrier leakage in MCT8 deficiency
Marina Guillén-Yunta, Víctor Valcárcel-Hernández, Ángel García-Aldea, Guadalupe Soria, José Manuel García-Verdugo, Ana Montero-Pedrazuela, Ana Guadaño-Ferraz
Fluids Barriers CNS. 2023; 20: 79. Published online 2023 Nov 3. doi: 10.1186/s12987-023-00481-w
PMCID:
PMC10623792
ArticlePubReaderPDF–12MCite
9.
Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review
Xin Lv, Xiao Yang, Linlin Li, Fagui Yue, Hongguo Zhang, Ruixue Wang
Medicine (Baltimore) 2023 Oct 27; 102(43): e34852. Published online 2023 Oct 27. doi: 10.1097/MD.0000000000034852
PMCID:
PMC10615468
ArticlePubReaderPDF–642KCite
10.
An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report
Sue Lyn Tan, Muhammad Ghazali bin Ahmad Narihan, Ai Jiun Koa
BMC Pediatr. 2023; 23: 541. Published online 2023 Oct 28. doi: 10.1186/s12887-023-04376-5
PMCID:
PMC10612235
ArticlePubReaderPDF–855KCite
11.
Endogenous Fructose Production and Metabolism Drive Metabolic Dysregulation and Liver Disease in Mice with Hereditary Fructose Intolerance
Ana Andres-Hernando, David J. Orlicky, Masanari Kuwabara, Christina Cicerchi, Michelle Pedler, Mark J. Petrash, Richard J. Johnson, Dean R. Tolan, Miguel A. Lanaspa
Nutrients. 2023 Oct; 15(20): 4376. Published online 2023 Oct 16. doi: 10.3390/nu15204376
PMCID:
PMC10609559
ArticlePubReaderPDF–7.1MCite
12.
A Spanish Family with Gordon Syndrome Due to a Variant in the Acidic Motif of WNK1
Ramón Peces, Carlos Peces, Laura Espinosa, Rocío Mena, Carolina Blanco, Jair Tenorio-Castaño, Pablo Lapunzina, Julián Nevado
Genes (Basel) 2023 Oct; 14(10): 1878. Published online 2023 Sep 27. doi: 10.3390/genes14101878
PMCID:
PMC10606608
ArticlePubReaderPDF–919KCite
13.
An immune signature to predict the prognosis of ATRX-wildtype glioma patients and guide immune checkpoint blockade therapy
Wenpeng Cao, Ping Sun, Shipeng Luo, Zhirui Zeng, Chaolun Xiao, Wenfeng Yu, Shan Lei
Aging (Albany NY) 2023 Oct 15; 15(19): 10453–10472. Published online 2023 Oct 6. doi: 10.18632/aging.205088
PMCID:
PMC10599764
ArticlePubReaderPDF–3.1MCite
14.
Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn
Mingyu Xie, Jingjing Wan, Xin Zheng, Xian Zou, Wanting Chen, Kanglin Zhang, Huiting Yuan, Zhenhong Zhang, Haisheng Zeng
Front Immunol. 2023; 14: 1238551. Published online 2023 Oct 3. doi: 10.3389/fimmu.2023.1238551
PMCID:
PMC10579556
ArticlePubReaderPDF–3.8MCite
15.
Transcriptional Dysregulation and Impaired Neuronal Activity in FMR1 Knock-Out and Fragile X Patients’ iPSC-Derived Models
Gilles Maussion, Cecilia Rocha, Narges Abdian, Dimitri Yang, Julien Turk, Dulce Carrillo Valenzuela, Luisa Pimentel, Zhipeng You, Barbara Morquette, Michael Nicouleau, Eric Deneault, Samuel Higgins, Carol X.-Q. Chen, Wolfgang E. Reintsch, Stanley Ho, Vincent Soubannier, Sarah Lépine, Zora Modrusan, Jessica Lund, William Stephenson, Rajib Schubert, Thomas M. Durcan
Int J Mol Sci. 2023 Oct; 24(19): 14926. Published online 2023 Oct 5. doi: 10.3390/ijms241914926
PMCID:
PMC10573568
ArticlePubReaderPDF–4.5MCite
16.
Ketogenic Diet Affects Sleep Architecture in C57BL/6J Wild Type and Fragile X Mice
Pamela R. Westmark, Aaron K. Gholston, Timothy J. Swietlik, Rama K. Maganti, Cara J. Westmark
Int J Mol Sci. 2023 Oct; 24(19): 14460. Published online 2023 Sep 22. doi: 10.3390/ijms241914460
PMCID:
PMC10572443
ArticlePubReaderPDF–3.0MCite
17.
Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research
Maria Isabel Alvarez-Mora, Glòria Garrabou, Laura Molina-Porcel, Ruben Grillo-Risco, Francisco Garcia-Garcia, Tamara Barcos, Judith Cantó-Santos, Laia Rodriguez-Revenga
Cells. 2023 Oct; 12(19): 2364. Published online 2023 Sep 26. doi: 10.3390/cells12192364
PMCID:
PMC10571773
ArticlePubReaderPDF–1.6MCite
18.
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
Jeffrey L. Neul, Timothy A. Benke, Eric D. Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U. Peters, Alan K. Percy, for the Rett syndrome Natural History Study Group
J Neurodev Disord. 2023; 15: 33. Published online 2023 Oct 13. doi: 10.1186/s11689-023-09502-z
PMCID:
PMC10571464
ArticlePubReaderPDF–1.2MCite
19.
Tocilizumab reduces the unmanageable inflammatory reaction of a patient with Aicardi-Goutières syndrome type 7 during treatment with ruxolitinib
Wei Wang, Wei Wang, Siming Peng, Sihao Gao, Meiying Quan, Lijuan Gou, Changyan Wang, Zhixing Sun, Zhuo Li, Dongmei Lian, Hongmei Song
Pediatr Rheumatol Online J. 2023; 21: 117. Published online 2023 Oct 12. doi: 10.1186/s12969-023-00899-4
PMCID:
PMC10571391
ArticlePubReaderPDF–944KCite
20.
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation
Flora Tassone, Dragana Protic, Emily Graves Allen, Alison D. Archibald, Anna Baud, Ted W. Brown, Dejan B. Budimirovic, Jonathan Cohen, Brett Dufour, Rachel Eiges, Nicola Elvassore, Lidia V. Gabis, Samantha J. Grudzien, Deborah A. Hall, David Hessl, Abigail Hogan, Jessica Ezzell Hunter, Peng Jin, Poonnada Jiraanont, Jessica Klusek, R. Frank Kooy, Claudine M. Kraan, Cecilia Laterza, Andrea Lee, Karen Lipworth, Molly Losh, Danuta Loesch, Reymundo Lozano, Marsha R. Mailick, Apostolos Manolopoulos, Veronica Martinez-Cerdeno, Yingratana McLennan, Robert M. Miller, Federica Alice Maria Montanaro, Matthew W. Mosconi, Sarah Nelson Potter, Melissa Raspa, Susan M. Rivera, Katharine Shelly, Peter K. Todd, Katarzyna Tutak, Jun Yi Wang, Anne Wheeler, Tri Indah Winarni, Marwa Zafarullah, Randi J. Hagerman
Cells. 2023 Sep; 12(18): 2330. Published online 2023 Sep 21. doi: 10.3390/cells12182330
PMCID:
PMC10529056
ArticlePubReaderPDF–4.4MCite

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