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Items: 1 to 20 of 159

1.
Dandy–Walker syndrome: a bibliometric analysis of the most 100 cited articles
Khadeja Alrefaie, Noyan Jawed, Aalaa Saleh, Farah Shibli, Yasser F. Almealawy, Sura N. Alrubaye, Wireko Andrew Awuah, Toufik Abdul-Rahman, Bipin Chaurasia, Oday Atallah
Ann Med Surg (Lond) 2024 Dec; 86(12): 7278–7289. Published online 2024 Nov 7. doi: 10.1097/MS9.0000000000002725
PMCID:
PMC11623816
ArticlePDF–1.0M
2.
The Role of Antenatal Ultrasound in the Detection of Goldston Syndrome: A Case Report and Review of Literature
Isha Gupta, Ashish Gangwal, Rahul Sharma, Mukesh Mittal, Naima Mannan
Cureus. 2024 Oct; 16(10): e72201. Published online 2024 Oct 23. doi: 10.7759/cureus.72201
PMCID:
PMC11583831
ArticlePDF–4.0M
3.
Loss of tissue-type plasminogen activator causes multiple developmental anomalies
Kevin Uguen, Tanja Frey, Osama Muthaffar, Jean-Claude Décarie, Najim Ameziane, Sarah Boissel, Yalda Baradaran-Heravi, Anita Rauch, Gabriela Oprea, Aboulfazl Rad, Katharina Steindl, Jacques L Michaud
Brain Commun. 2024; 6(6): fcae408. Published online 2024 Nov 16. doi: 10.1093/braincomms/fcae408
PMCID:
PMC11580217
ArticlePDF–5.5M
4.
Armored brain as a late complication of CSF overshunting: A rare case report
Bereket Girum Beyene, Michael Teklehaimanot Abera, Tesfaye Abebe Zeleka, Abdi Alemayehu Dhuguma
Radiol Case Rep. 2025 Jan; 20(1): 342–345. Published online 2024 Oct 30. doi: 10.1016/j.radcr.2024.10.020
PMCID:
PMC11550645
ArticlePDF–816K
5.
MRI Evaluation of Corpus Callosum Malformation and Associated Anomalies: A Retrospective Cross-Sectional Study
Saurya Saurya, Bhumika Dhamija, Srishti Sharma, Ravi S Singh, Priyanka KS, Saroj Kumar, Kumar Siddhant, Sumair Haque
Cureus. 2024 Oct; 16(10): e70924. Published online 2024 Oct 6. doi: 10.7759/cureus.70924
PMCID:
PMC11536608
ArticlePDF–7.3M
6.
Concurrent Dandy-Walker malformation and persistent fetal vasculature: A case report
Farwa Nisa, Hala Nisa, Arsalan Nadeem, Maira Anwer
Int J Surg Case Rep. 2024 Oct; 123: 110270. Published online 2024 Sep 10. doi: 10.1016/j.ijscr.2024.110270
PMCID:
PMC11440305
ArticlePDF–767K
7.
Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype
Liena Elbaghir Omer Elsayed, Norah Ayed AlHarbi, Ashwaq Mohammed Alqarni, Huda Hussein Elwasila Eltayeb, Noura Mostafa Mohamed Mostafa, Maha Mohammed Abdulrahim, Hadeel Ibrahim Bin Zaid, Latifah Mansour Alanzi, Sarah Abdullah Ababtain, Khawlah Aldulaijan, Sheka Yagub Aloyouni, Moneeb Abdullah Kassem Othman, Mohammad Abdullah Alkheilewi, Adel Mohammed Binduraihem, Hadeel Abdollah Alrukban, Hiba Yousif Ahmed, Faten Abdullah AlRadini, Hadil Mohammad Alahdal, Aziza Mufareh Mushiba, Omaima Abdulazeem Alzaher
Hum Genomics. 2024; 18: 95. Published online 2024 Sep 4. doi: 10.1186/s40246-024-00662-0
Correction in:
Hum Genomics. 2024; 18: 115.
PMCID:
PMC11376027
ArticlePDF–1.3M
8.
Correction: Regional brain development in fetuses with Dandy-Walker malformation: A volumetric fetal brain magnetic resonance imaging study
The PLOS ONE Staff
PLoS One. 2024; 19(9): e0310149. Published online 2024 Sep 4. doi: 10.1371/journal.pone.0310149
Corrects:
PLoS One. 2022; 17(2): e0263535.
PMCID:
PMC11373830
CorrectionPDF–196K
9.
Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome
M. Makenzie Beaman, Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor, Sangmoon Lee, Kristen L. Deak, Marie T. McDonald, Courtney Jensen, Maha S. Zaki, Amira T. Masri, Charlotte A. Hobbs, Joseph G. Gleeson, Jennifer L. Cohen
Am J Med Genet A. Author manuscript; available in PMC 2024 Nov 1.
Published in final edited form as: Am J Med Genet A. 2023 Nov; 191(11): 2757–2767. Published online 2023 Aug 19. doi: 10.1002/ajmg.a.63363
PMCID:
PMC11141336
ArticlePDF–1.3M
10.
Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study
Hanan Alsehli, Saeed Mastour Alshahrani, Shatha Alzahrani, Farouq Ababneh, Nawal Mashni Alharbi, Nassebah Alarfaj, Duaa Baarmah
Sci Rep. 2024; 14: 8411. Published online 2024 Apr 10. doi: 10.1038/s41598-024-59163-8
PMCID:
PMC11006671
ArticlePDF–1.0M
11.
Nidogen in development and disease
Uwe Töpfer, Anne Holz
Front Cell Dev Biol. 2024; 12: 1380542. Published online 2024 Mar 14. doi: 10.3389/fcell.2024.1380542
PMCID:
PMC10972974
ArticlePDF–1.5M
12.
Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder
Rulan Shaath, Aljazi Al-Maraghi, Haytham Ali, Jehan AlRayahi, Adam D. Kennedy, Karen L. DeBalsi, Sura Hussein, Najwa Elbashir, Sujitha S. Padmajeya, Sasirekha Palaniswamy, Sarah H. Elsea, Ammira A. Akil, Noha A. Yousri, Khalid A. Fakhro
Metabolites. 2024 Mar; 14(3): 152. Published online 2024 Mar 4. doi: 10.3390/metabo14030152
PMCID:
PMC10972350
ArticlePDF–1.3M
13.
A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35
Adriana Aguila, Somaya Salah, Gopinath Kulasekaran, Moatasem Shweiki, Nava Shaul-Lotan, Hagar Mor-Shaked, Muhannad Daana, Tamar Harel, Peter S. McPherson
J Biol Chem. 2024 Apr; 300(4): 107124. Published online 2024 Mar 1. doi: 10.1016/j.jbc.2024.107124
PMCID:
PMC10966776
ArticlePDF–3.9M
14.
Dandy-Walker Malformation with Neonatal Meningitis: A Case Report
Bishal Pradhan, Bishal Sharma, Pratistha Acharya, Suraksha Thapa, Jyoti Chand, Simran Bista
JNMA J Nepal Med Assoc. 2024 Feb; 62(270): 142–144. Published online 2024 Feb 29. doi: 10.31729/jnma.8472
PMCID:
PMC10924517
ArticlePDF–669K
15.
Radiological characteristics of the posterior fossa of the fetal skull and presentation of a rare case of antenatal screening for Dandy-Walker malformation using antenatal fetal ultrasound and MRI
Ayoub Amghar, Imane El Abbassi, Jalal Mohammed, Assal Asmaa, Lamrissi Amine, Said Bouhya
Int J Surg Case Rep. 2024 Feb; 115: 109037. Published online 2023 Nov 20. doi: 10.1016/j.ijscr.2023.109037
PMCID:
PMC10808924
ArticlePDF–6.3M
16.
Speech and Language Delays Associated With New-Onset Seizures Revealing Dandy-Walker Variant
Sara Moudaffar, Mohssine Arraji, Bouchra Aabbassi, Iman Adali, Fatiha Manoudi
Cureus. 2024 Jan; 16(1): e52802. Published online 2024 Jan 23. doi: 10.7759/cureus.52802
PMCID:
PMC10805175
ArticlePDF–210K
17.
Dandy-Walker malformation associated with subarachnoid hemorrhage. A case report
Razan S. Samman, Mohamed K. Gomaa, Bassem Y. Sheikh
Int J Surg Case Rep. 2024 Jan; 114: 109148. Published online 2023 Dec 14. doi: 10.1016/j.ijscr.2023.109148
PMCID:
PMC10767204
ArticlePDF–1.0M
18.
Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study
Meiying Cai, Aixiang Lv, Wantong Zhao, Liangpu Xu, Na Lin, Hailong Huang
BMC Pregnancy Childbirth. 2024; 24: 23. Published online 2024 Jan 3. doi: 10.1186/s12884-023-06223-y
PMCID:
PMC10763152
ArticlePDF–954K
19.
Retinitis pigmentosa with or without skeletal abnormalities due to homozygous mutations in the CWC27 gene: A case report
Yang-Fan Qi, Xiaoping Ma, Shuang-Zhu Lin, Wan-Qi Wang, Jia-Yi Li, Qian-Dui Chen, Li Liu
Medicine (Baltimore) 2023 Dec 22; 102(51): e36357. Published online 2023 Dec 22. doi: 10.1097/MD.0000000000036357
PMCID:
PMC10735150
ArticlePDF–1.4M
20.
Dandy-Walker Malformation in a Girl with DDX3X-Related Intellectual Disability
Karima Rafat, Mohamed S. Abdel-Hamid, Ghada M.H. Abdel-Salam
Mol Syndromol. 2023 Dec; 14(6): 523–529. Published online 2023 Aug 14. doi: 10.1159/000531715
PMCID:
PMC10697763
ArticlePDF–558K

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