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Select item 106663331.

A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement

Qian Li, Qianying Liu, Suwen Liu, Lichun Yu, Zhenle Yang, Cong Wang, Jing Wang, Shuzhen Sun

BMC Pediatr. 2023; 23: 590. Published online 2023 Nov 23. doi: 10.1186/s12887-023-04415-1

PMCID:: PMC10666333

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Select item 106213122.

A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene

Anastasiya Aleksandrovna Kozina, Guria Kurbanovna Kanaeva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Anastasia Vladimirovna Erofeeva, Nadezhda Andreevna Pogodina, Jamilya Payzutdinova Gadzhiyeva, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky

J Int Med Res. 2023 Oct; 51(10): 03000605231206294. Published online 2023 Nov 1. doi: 10.1177/03000605231206294

PMCID:: PMC10621312

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Select item 105500193.

Preoperative Nasobiliary Drainage as a Predictor of Response Before Surgical Fistula Creation in Joubert Syndrome With Refractory Cholestatic Pruritis

Maya Biermann, Preeyanka Rubiana Sundar, Hima Veeramachaneni, Field Willingham

ACG Case Rep J. 2023 Oct; 10(10): e01171. Published online 2023 Oct 3. doi: 10.14309/crj.0000000000001171

PMCID:: PMC10550019

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Select item 105408644.

Analysis of CT and MRI Manifestations of Joubert Syndrome

Da-wei Liao, Xue Zheng

J Belg Soc Radiol. 2023; 107(1): 78. Published online 2023 Sep 29. doi: 10.5334/jbsr.3283

PMCID:: PMC10540864

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Select item 105124975.

Novel variants identified in five Chinese families with Joubert Syndrome: a case report

Liwei Fang, Lulu Wang, Li Yang, Xiaoyan Xu, Shanai Pei, De Wu

BMC Med Genomics. 2023; 16: 221. Published online 2023 Sep 21. doi: 10.1186/s12920-023-01669-7

PMCID:: PMC10512497

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Select item 104474006.

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D’Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente

J Med Genet. 2023 Sep; 60(9): 885–893. Published online 2023 Feb 14. doi: 10.1136/jmg-2022-108725

PMCID:: PMC10447400

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Select item 104010457.

Clinical and genetic characteristics of 36 children with Joubert syndrome

Yan Dong, Ke Zhang, He Yao, Tianming Jia, Jun Wang, Dengna Zhu, Falin Xu, Meiying Cheng, Shichao Zhao, Xiaoyi Shi

Front Pediatr. 2023; 11: 1102639. Published online 2023 Jul 21. doi: 10.3389/fped.2023.1102639

PMCID:: PMC10401045

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Select item 103968378.

产前诊断Joubert综合征一例并文献复习

Hong WEN, Lu CHEN, Kai YAN, Jing HE

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017 Jun 25; 46(3): 274–278. Chinese. doi: 10.3785/j.issn.1008-9292.2017.06.08

PMCID:: PMC10396837

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Select item 103704689.

Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy

N. Sreedevi, N. Swapna, Santosh Maruthy, T. Jayakumar, Charles Sylvester

Glob Med Genet. 2023 Sep; 10(3): 190–193. Published online 2023 Jul 17. doi: 10.1055/s-0043-1771184

PMCID:: PMC10370468

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Select item 1031423910.

A Rare Case of Transplanted Kidney Lymphangiectasia in a Patient With Joubert Syndrome

Mohamed Lameir Mukhtar Hussein, Jouhar J Kolleri, Sabir A Al Sharani, Amal M. J. Thabet, Akram Twair

Cureus. 2023 Jun; 15(6): e39814. Published online 2023 Jun 1. doi: 10.7759/cureus.39814

PMCID:: PMC10314239

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Select item 1025919511.

Capillary Hemangioma in Joubert Syndrome: A Case Report

Hala M Nassim, Reem A Alabdulqader, Hatim Najmi, Hend M Alsawadi, Hammam A Alotaibi

Cureus. 2023 May; 15(5): e38922. Published online 2023 May 12. doi: 10.7759/cureus.38922

PMCID:: PMC10259195

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Select item 1024720412.

儿童Joubert综合征临床及遗传学分析

张广宇, 赵云霞, 赵会玲, 唐国皓, 王鹏亮, 朱登纳

Zhongguo Dang Dai Er Ke Za Zhi. 2023 May 15; 25(5): 497–501. Chinese. doi: 10.7499/j.issn.1008-8830.2212069

PMCID:: PMC10247204

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Select item 1024242913.

Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders

Hiroshi Mano, Kenichi Kitamura, Mayumi Tachibana, Ai Suzuki, Toyohiro Yamauchi, Tomomi Murakami, Yoshinori Okumura, Masashi Koyama, Kenji Shimizu

Cureus. 2023 May; 15(5): e38658. Published online 2023 May 7. doi: 10.7759/cureus.38658

PMCID:: PMC10242429

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Select item 1019652614.

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.

Lidvana Spahiu, John A Sayer, Emir Behluli, Thomas Liehr, Gazmend Temaj

Version 2. F1000Res. 2022; 11: 388. Published online 2023 Mar 31. doi: 10.12688/f1000research.109628.2

PMCID:: PMC10196526

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Select item 1013751715.

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome

Rute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale, Marina Martinez Popple, Valeria Capra, Giuseppina Conteduca, Barbara Testa, Domenico Coviello, Angela Elvira Covone

Genes (Basel) 2023 Apr; 14(4): 810. Published online 2023 Mar 28. doi: 10.3390/genes14040810