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Items: 1 to 20 of 49

1.
Comprehensive Radiological Imaging for the Characterization of Spinal Dysraphism and Associated Anomalies in a Pediatric Case
Iffath Misbah, Pranathi Ravula, Sam Raja, Arunkumar Mohanakrishnan, Paarthipan Natarajan, Dhivya Gunasekaran
Cureus. 2024 Sep; 16(9): e68415. Published online 2024 Sep 1. doi: 10.7759/cureus.68415
PMCID:
PMC11446498
AbstractArticlePDF–5.0M
2.
Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome
Jianguo Yan, Yuanzhi Huang, Lili Cao, Yi Dong, Zhiqiang Xu, Fuchuan Wang, Yinjie Gao, Danni Feng, Min Zhang
BMC Pediatr. 2024; 24: 532. Published online 2024 Aug 20. doi: 10.1186/s12887-024-04973-y
PMCID:
PMC11334458
AbstractArticlePDF–1.5M
3.
Alagille syndrome with unusual common bile duct hypoplasia and gallbladder dysmorphism: Lesson based on a case report
Renato Farina, Alfredo Garofalo, Pietro Valerio Foti, Corrado Inì, Claudia Motta, Sebastiano Galioto, Mariangela Clemenza, Adriana Ilardi, Livio Gavazzi, Daniele Grippaldi, Mattia D'Urso, Antonio Basile
Radiol Case Rep. 2024 Sep; 19(9): 4082–4086. Published online 2024 Jul 12. doi: 10.1016/j.radcr.2024.06.031
PMCID:
PMC11298873
AbstractArticlePDF–937K
4.
Tetralogy of Fallot with vertebral defect and left aberrant subclavian artery: a rare occurrence
Marya Hameed, Muhammad Fazal Hussain Qureshi
Egypt Heart J. 2024 Dec; 76: 23. Published online 2024 Feb 20. doi: 10.1186/s43044-024-00454-w
PMCID:
PMC10879043
AbstractArticlePDF–923K
5.
Vertebral anomalies and VACTERL association in pontine tegmental cap dysplasia: a paediatric case report
Rachel Jane Klapper, Joshua Strobel, Chance Hebert, Maamannan Venkataraj, Tailong Xu, Octavio Arevalo Espejo
BJR Case Rep. 2024 Jan; 10(1): uaad002. Published online 2023 Dec 13. doi: 10.1093/bjrcr/uaad002
PMCID:
PMC10860506
AbstractArticlePDF–1.0M
6.
Molecular landscape of congenital vertebral malformations: recent discoveries and future directions
Anna Szoszkiewicz, Ewelina Bukowska-Olech, Aleksander Jamsheer
Orphanet J Rare Dis. 2024; 19: 32. Published online 2024 Jan 30. doi: 10.1186/s13023-024-03040-0
PMCID:
PMC10829358
AbstractArticlePDF–1.8M
7.
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases
Xiufang Feng, Jiangyuan Ping, Shan Gao, Dong Han, Wenxia Song, Xiaoze Li, Yilun Tao, Lihong Wang
Sci Rep. 2024; 14: 1812. Published online 2024 Jan 20. doi: 10.1038/s41598-024-52357-0
PMCID:
PMC10799942
AbstractArticlePDF–1.3M
8.
A case study on the pitfalls in prenatal ultrasonic detection of butterfly vertebra
Jia-Qi Hu, Yu-Guo Zhang, Wei Feng, Hua Shi
Heliyon. 2023 Nov; 9(11): e21754. Published online 2023 Oct 29. doi: 10.1016/j.heliyon.2023.e21754
PMCID:
PMC10660013
AbstractArticlePDF–2.2M
9.
Don't Play It by Ear: Technical Considerations to Optimize Outcome and Procedural Safety of Congenital Microtia Reconstruction in a Dextrocardia Patient With Situs Inversus Totalis, Butterfly Vertebra, and Hemivertebra
Shivangi Saha, Amiteshwar Singh, Arbab Mohammad, Shashank Chauhan, Kavya Chinta, Maneesh Singhal
Eplasty. 2023; 23: e57. Published online 2023 Aug 31.
PMCID:
PMC10517671
AbstractArticlePDF–15M
10.
A neonatal case of vascular ring with Alagille syndrome
Pei-Shan Lee, Jose A Silva Sepulveda, Miguel Del Campo, Sandra L Leibel, Amber Hildreth, Krishelle L Marc-Aurele
SAGE Open Med Case Rep. 2023; 11: 2050313X231197321. Published online 2023 Sep 2. doi: 10.1177/2050313X231197321
PMCID:
PMC10475254
AbstractArticlePDF–945K
11.
Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome
Hasan M. Isa, Fawzeya A. Alahmed
Adv Biomed Res. 2023; 12: 155. Published online 2023 Jun 28. doi: 10.4103/abr.abr_201_22
PMCID:
PMC10410416
AbstractArticlePDF–987K
12.
Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease
Natalia Semenova, Elena Kamenets, Eleonora Annenkova, Andrey Marakhonov, Elena Gusarova, Nina Demina, Daria Guseva, Inga Anisimova, Anna Degtyareva, Natalia Taran, Tatiana Strokova, Ekaterina Zakharova
Int J Mol Sci. 2023 Jul; 24(14): 11758. Published online 2023 Jul 21. doi: 10.3390/ijms241411758
PMCID:
PMC10380973
AbstractArticlePDF–2.1M
13.
An Incidental Finding of Butterfly Vertebrae in a Case of Vertebral Defects, Anal Atresia, Cardiac Defects, Tracheo-Esophageal Fistula, Renal Anomalies, and Limb Abnormalities (VACTERL)
Ashritha Rao, Sarika Gaikwad, Amar Taksande, Mayur B Wanjari
Cureus. 2023 Jan; 15(1): e33401. Published online 2023 Jan 5. doi: 10.7759/cureus.33401
PMCID:
PMC9899095
AbstractArticlePDF–589K
14.
Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center
Dalei Li, Kangwei Mao, Jun Sun, Jiangyang Liu, Chenxi Zhang
Int J Gen Med. 2023; 16: 77–83. Published online 2023 Jan 6. doi: 10.2147/IJGM.S382430
PMCID:
PMC9831120
AbstractArticlePDF–547K
15.
Clinical and Genetic Characteristics of Alagille Syndrome in Adults
Jianguo Li, Haicong Wu, Shuru Chen, Jiahui Pang, Heping Wang, Xinhua Li, Weiqiang Gan
J Clin Transl Hepatol. 2023 Feb 28; 11(1): 156–162. Published online 2022 Mar 17. doi: 10.14218/JCTH.2021.00313
PMCID:
PMC9647109
AbstractArticlePDF–3.2M
16.
A rare incidental finding of an isolated S1 butterfly vertebra: A case report
Vikash Bhattarai, Sanjeev Kharel, Sandeep Mahat, Sandip Kuikel, Amir Joshi, Amit Sharma, Sulav Acharya
Radiol Case Rep. 2022 Dec; 17(12): 4761–4765. Published online 2022 Oct 5. doi: 10.1016/j.radcr.2022.09.028
PMCID:
PMC9535292
AbstractArticlePDF–1.0M
17.
Alagille syndrome associated with total anomalous pulmonary venous connection and severe xanthomas: A case report
Han-Shi Zeng, Zhan-Hui Zhang, Yan Hu, Gui-Lang Zheng, Jing Wang, Jing-Wen Zhang, Yu-Xiong Guo
World J Clin Cases. 2022 Sep 6; 10(25): 8932–8938. Published online 2022 Sep 6. doi: 10.12998/wjcc.v10.i25.8932
PMCID:
PMC9477039
AbstractArticlePDF–3.4M
18.
Feasibility of Single-Stage Posterior Passive Correction and Fusion Surgery for Congenital Scoliosis in Adolescent Patients Who Have Attained Skeletal Maturity
Chee Kidd Chiu, Rommel Lim Tan, Siti Mariam Abd Gani, Jessamine Sze Lynn Chong, Weng Hong Chung, Chris Yin Wei Chan, Mun Keong Kwan
Asian Spine J. 2022 Jun; 16(3): 315–325. Published online 2021 May 7. doi: 10.31616/asj.2020.0649
PMCID:
PMC9260400
AbstractArticlePDF–2.9M
19.
Neuroradiological findings in Alagille syndrome
Alessandra D'Amico, Teresa Perillo, Renato Cuocolo, Lorenzo Ugga, Fabiola Di Dato, Ferdinando Caranci, Raffaele Iorio
Br J Radiol. 2022 Jan 1; 95(1129): 20201241. Published online 2021 Oct 5. doi: 10.1259/bjr.20201241
PMCID:
PMC8722249
AbstractArticlePDF–1.1M
20.
Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population
Mohammad AlMuhaizea, Omar Dabbagh, Hanan AlQudairy, Aljouhra AlHargan, Wafa Alotaibi, Ruba Sami, Rahaf AlOtaibi, Mariam Mahmoud Ali, Hindi AlHindi, Dilek Colak, Namik Kaya
Genes (Basel) 2021 Nov; 12(11): 1783. Published online 2021 Nov 10. doi: 10.3390/genes12111783
PMCID:
PMC8620084
AbstractArticlePDF–2.1M

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