PMC Articles for MedGen (Select 335526) - PMC

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

Abstract Article PDF–695K

Select item 102567166.

A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project)

Gary Leggatt, Guo Cheng, Sumit Narain, Luis Briseño-Roa, Jean-Philippe Annereau, The Genomics England Research Consortium, Christine Gast, Rodney D. Gilbert, Sarah Ennis

Sci Rep. 2023; 13: 9369. Published online 2023 Jun 9. doi: 10.1038/s41598-023-32169-4

PMCID:: PMC10256716

Abstract Article PDF–1.8M

Select item 101965267.

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

Abstract Article PDF–1.2M

Select item 101553428.

The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued

Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann

Orphanet J Rare Dis. 2023; 18: 101. Published online 2023 May 2. doi: 10.1186/s13023-023-02706-5

PMCID:: PMC10155342

Abstract Article PDF–1.1M

Select item 100323209.

Joubert syndrome: Molecular basis and treatment

Lidvana Spahiu, Emir Behluli, Violeta Grajçevci-Uka, Thomas Liehr, Gazmend Temaj

J Mother Child. 2022 Mar; 26(1): 118–123. Published online 2023 Feb 22. doi: 10.34763/jmotherandchild.20222601.d-22-00034

PMCID:: PMC10032320

Abstract Article PDF–554K

Select item 975614110.

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome

Monica Penon-Portmann, Mohammad K. Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E. Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M. Grochowski, Hailey Loucks, W. Patrick Devine, Jessica van Ziffle, Dan Doherty, James R. Lupski, Joseph T. Shieh

Am J Med Genet A. Author manuscript; available in PMC 2023 Aug 1.

Published in final edited form as: Am J Med Genet A. 2022 Aug; 188(8): 2360–2366. Published online 2022 Jun 25. doi: 10.1002/ajmg.a.62872

PMCID:: PMC9756141

Abstract Article PDF–636K

Select item 931461011.

Genotype–phenotype correlates in Joubert syndrome: A review

Simone Gana, Valentina Serpieri, Enza Maria Valente

Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 72–88. Published online 2022 Mar 3. doi: 10.1002/ajmg.c.31963

PMCID:: PMC9314610

Abstract Article PDF–2.9M

Select item 930052612.

Fetal ciliopathies: a retrospective observational single-center study

Corinna Simonini, Anne Floeck, Brigitte Strizek, Andreas Mueller, Ulrich Gembruch, Annegret Geipel

Arch Gynecol Obstet. 2022; 306(1): 71–83. Published online 2021 Oct 1. doi: 10.1007/s00404-021-06265-7

PMCID:: PMC9300526

Abstract Article PDF–1.4M

Select item 929755713.

Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China

Liang Ying, Wang Hui, FuQian, Zhou Nan, Jiang Yeping, Mi Lan

BMC Pediatr. 2022; 22: 433. Published online 2022 Jul 20. doi: 10.1186/s12887-022-03496-8

PMCID:: PMC9297557

Abstract Article PDF–989K

Select item 868891914.

Oral Colonization by Entamoeba gingivalis and Trichomonas tenax: A PCR-Based Study in Health, Gingivitis, and Periodontitis

Alaa Yaseen, Azmi Mahafzah, Deema Dababseh, Duaa Taim, Ahmad A. Hamdan, Esraa Al-Fraihat, Yazan Hassona, Gülşen Özkaya Şahin, Julien Santi-Rocca, Malik Sallam

Front Cell Infect Microbiol. 2021; 11: 782805. Published online 2021 Dec 7. doi: 10.3389/fcimb.2021.782805

PMCID:: PMC8688919

Abstract Article PDF–2.4M

Select item 862290715.

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family

Sandy Siegert, Gabriel T. Mindler, Christof Brücke, Andreas Kranzl, Janina Patsch, Markus Ritter, Andreas R. Janecke, Julia Vodopiutz

Genes (Basel) 2021 Nov; 12(11): 1648. Published online 2021 Oct 20. doi: 10.3390/genes12111648

PMCID:: PMC8622907

Abstract Article PDF–710K

Select item 832595716.

Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases

Magdalena Cardenas-Rodriguez, Christina Austin-Tse, Judith G. M. Bergboer, Elisa Molinari, Yuya Sugano, Ruxandra Bachmann-Gagescu, John A. Sayer, Iain A. Drummond

J Cell Sci. 2021 Jul 15; 134(14): jcs258568. Published online 2021 Jul 22. doi: 10.1242/jcs.258568

PMCID:: PMC8325957

Abstract Article

Select item 830431417.

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

Agnieszka Stembalska, Małgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Rafal Ploski, Robert Smigiel

Genes (Basel) 2021 Jul; 12(7): 1078. Published online 2021 Jul 16. doi: 10.3390/genes12071078

PMCID:: PMC8304314

Abstract Article PDF–606K

Select item 823432718.

A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype

Gulten Tuncel, Bahar Kaymakamzade, Yeliz Engindereli, Sehime G. Temel, Mahmut Cerkez Ergoren

Genes (Basel) 2021 Jun; 12(6): 945. Published online 2021 Jun 21. doi: 10.3390/genes12060945

PMCID:: PMC8234327

Abstract Article PDF–1.6M

Select item 780163519.

Any modality of renal replacement therapy can be a treatment option for Joubert syndrome

Yoko Takagi, Kenichiro Miura, Tomoo Yabuuchi, Naoto Kaneko, Kiyonobu Ishizuka, Mariko Takei, Chikage Yajima, Yuka Ikeuchi, Yasuko Kobayashi, Takumi Takizawa, Masataka Hisano, Yoshinori Tsurusaki, Naomichi Matsumoto, Motoshi Hattori

Sci Rep. 2021; 11: 462. Published online 2021 Jan 11. doi: 10.1038/s41598-020-80712-4

PMCID:: PMC7801635

Abstract Article PDF–952K

Select item 767994720.

Healthcare recommendations for Joubert syndrome

Ruxandra Bachmann-Gagescu, Jennifer C. Dempsey, Sara Bulgheroni, Maida L. Chen, Stefano D'Arrigo, Ian A. Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal Joshi, Dana Knutzen, Hester Y. Kroes, Stephen H. Mack, Sara Nuovo, Melissa A. Parisi, Joseph Snow, Angela C. Summers, Jordan M. Symons, Wadih M. Zein, Eugen Boltshauser, John A. Sayer, Meral Gunay-Aygun, Enza Maria Valente, Dan Doherty

Am J Med Genet A. Author manuscript; available in PMC 2020 Nov 21.

Published in final edited form as: Am J Med Genet A. 2020 Jan; 182(1): 229–249. Published online 2019 Nov 11. doi: 10.1002/ajmg.a.61399

PMCID:: PMC7679947

Abstract Article PDF–815K

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