PMC Articles for MedGen (Select 1786742) - PMC

Select item 89229561.

Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome

Hongjun Fei, Yi Wu, Yanlin Wang, Junyu Zhang

Mol Genet Genomic Med. 2022 Mar; 10(3): e1877. Published online 2022 Jan 29. doi: 10.1002/mgg3.1877

PMCID:: PMC8922956

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Select item 65966592.

K⁺ Channel Kv3.4 Is Essential for Axon Growth by Limiting the Influx of Ca²⁺ into Growth Cones

Chia-Yi Huang, Cheng-Chang Lien, Chau-Fu Cheng, Ting-Yun Yen, Chieh-Ju Chen, Meei-Ling Tsaur

J Neurosci. 2017 Apr 26; 37(17): 4433–4449. doi: 10.1523/JNEUROSCI.1076-16.2017

PMCID:: PMC6596659

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Select item 54974643.

Novel mutations including deletions of the entire OFD1 gene in 30 families with type I orofaciodigital syndrome: a study of the extensive clinical variability

Izak J Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, Maja Wessels, Patrick Willems, Peter Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Dahlgaard Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt Robinson, Maja Linné, Patricia Martin, James McGrath, Winnie Pradel, Trine E Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B. Dobyns, Deborah J Morris-Rosendahl

Hum Mutat. Author manuscript; available in PMC 2017 Jul 5.

Published in final edited form as: Hum Mutat. 2013 Jan; 34(1): 237–247. Published online 2012 Oct 17. doi: 10.1002/humu.22224

PMCID:: PMC5497464

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Select item 53689154.

Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders

Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeo Kato

BMC Med Genet. 2017; 18: 37. Published online 2017 Mar 27. doi: 10.1186/s12881-017-0399-2

PMCID:: PMC5368915

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Select item 12883775.

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity

Kathrin Saar, Lihadh Al-Gazali, László Sztriha, Franz Rueschendorf, Mohammed Nur-E-Kamal, André Reis, Riad Bayoumi

Am J Hum Genet. 1999 Dec; 65(6): 1666–1671. Published online 1999 Nov 22. doi: 10.1086/302655

PMCID:: PMC1288377

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