PMC Articles for MedGen (Select 1824014) - PMC

Select item 96064801.

De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

Shenzhao Lu, Mengqi Ma, Xiao Mao, Carlos A. Bacino, Joseph Jankovic, V. Reid Sutton, James A. Bartley, Xueying Wang, Jill A. Rosenfeld, Ana Beleza-Meireles, Jaynee Chauhan, Xueyang Pan, Megan Li, Pengfei Liu, Katrina Prescott, Sam Amin, George Davies, Michael F. Wangler, Yuwei Dai, Hugo J. Bellen

Am J Hum Genet. 2022 Oct 6; 109(10): 1932–1943. Published online 2022 Oct 6. doi: 10.1016/j.ajhg.2022.09.005

PMCID:: PMC9606480

Article PDF–1.7M

Select item 70668392.

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia

BMC Pediatr. 2020; 20: 120. Published online 2020 Mar 12. doi: 10.1186/s12887-020-2019-0

PMCID:: PMC7066839

Article PDF–929K

Select item 59343353.

Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism

Maria I. Stamou, Neoklis A. Georgopoulos

Metabolism. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: Metabolism. 2018 Sep; 86: 124–134. Published online 2017 Nov 3. doi: 10.1016/j.metabol.2017.10.012

PMCID:: PMC5934335

Article PDF–389K

Select item 55017744.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Julie C. Van De Weghe, Tamara D.S. Rusterholz, Brooke Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han H. Cheng, Ian G. Phelps, Matthias Gesemann, Himanshu Goel, Ohad S. Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O. Khan, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Stephan C.F. Neuhauss, William B. Dobyns, Fowzan S. Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty

Am J Hum Genet. 2017 Jul 6; 101(1): 23–36. Published online 2017 Jun 15. doi: 10.1016/j.ajhg.2017.05.010

PMCID:: PMC5501774

Article PDF–1.9M

Select item 50824285.

Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O’Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O’Day D, Alswaid A, Devi AR, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M, University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass I, Shendure J, Doherty D

J Med Genet. Author manuscript; available in PMC 2016 Oct 27.

Published in final edited form as: J Med Genet. 2015 Aug; 52(8): 514–522. Published online 2015 Jun 19. doi: 10.1136/jmedgenet-2015-103087

PMCID:: PMC5082428

Article PDF–504K

Select item 43047966.

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome

Matthew F. Pescosolido, David M. Stein, Michael Schmidt, Christelle Moufawad El Achkar, Mark Sabbagh, Jeffrey M. Rogg, Umadevi Tantravahi, Rebecca L. McLean, Judy S. Liu, Annapurna Poduri, Eric M. Morrow

Ann Neurol. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Ann Neurol. 2014 Oct; 76(4): 581–593. Published online 2014 Sep 19. doi: 10.1002/ana.24225

PMCID:: PMC4304796

Article PDF–1.2M

Select item 29139417.

Joubert Syndrome and related disorders

Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente

Orphanet J Rare Dis. 2010; 5: 20. Published online 2010 Jul 8. doi: 10.1186/1750-1172-5-20

PMCID:: PMC2913941

Article PDF–1.5M

Select item 26005768.

Species differences in the expression of AHI1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies

Jennifer E. Doering, Kelly Kane, Yi-Chun Hsiao, Cong Yao, Bingxing Shi, Amber D. Slowik, Bakul Dhagat, Delisha D. Scott, Jeffrey G. Ault, Patrick S. Page-McCaw, Russell J. Ferland

J Comp Neurol. Author manuscript; available in PMC 2009 Nov 10.

Published in final edited form as: J Comp Neurol. 2008 Nov 10; 511(2): 238–256. doi: 10.1002/cne.21824

PMCID:: PMC2600576

Article PDF–5.6M

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