PMC Articles for MedGen (Select 1385580) - PMC

Result Filters

Links from MedGen

Items: 14

Select item 82515491.

Recurrent NFIA K125E substitution represents a loss‐of‐function allele: Sensitive in vitro and in vivo assays for nontruncating alleles

Tomoko Uehara, Rikako Sanuki, Yurie Ogura, Atsushi Yokoyama, Takeshi Yoshida, Hiroshi Futagawa, Hiroshi Yoshihashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kohei Matsubara, Hiromi Hirata, Kenjiro Kosaki, Toshiyuki Takano‐Shimizu

Am J Med Genet A. 2021 Jul; 185(7): 2084–2093. Published online 2021 May 11. doi: 10.1002/ajmg.a.62226

PMCID:: PMC8251549

Abstract Article PDF–2.2M

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

Abstract Article PDF–929K

Select item 67776183.

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

Marcello Scala, Annalaura Torella, Mariasavina Severino, Giovanni Morana, Raffaele Castello, Andrea Accogli, Antonio Verrico, Maria Stella Vari, Gerarda Cappuccio, Michele Pinelli, Giuseppina Vitiello, Gaetano Terrone, Alessandra D’Amico, TUDP consortium, Vincenzo Nigro, Valeria Capra

Eur J Hum Genet. 2019 Aug; 27(8): 1254–1259. Published online 2019 Apr 1. doi: 10.1038/s41431-019-0392-7

PMCID:: PMC6777618

Abstract Article PDF–732K

Select item 66339544.

Lack of Mid1, the Mouse Ortholog of the Opitz Syndrome Gene, Causes Abnormal Development of the Anterior Cerebellar Vermis

Alessio Lancioni, Mariateresa Pizzo, Bianca Fontanella, Rosa Ferrentino, Luisa M. R. Napolitano, Elvira De Leonibus, Germana Meroni

J Neurosci. 2010 Feb 24; 30(8): 2880–2887. doi: 10.1523/JNEUROSCI.4196-09.2010

PMCID:: PMC6633954

Abstract Article PDF–2.9M

Select item 65059755.

Joubert syndrome with multiple pituitary hormone deficiency

Nese Akcan, Firdevs Bas, Sukran Poyrazoglu, Ruveyde Bundak

BMJ Case Rep. 2019; 12(4): e229016. Published online 2019 Apr 23. doi: 10.1136/bcr-2018-229016

PMCID:: PMC6505975

Abstract Article PDF–718K

Select item 64453746.

Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement

Justin R. Bourgeois, Russell J. Ferland

Dev Biol. Author manuscript; available in PMC 2020 Apr 1.

Published in final edited form as: Dev Biol. 2019 Apr 1; 448(1): 36–47. Published online 2019 Jan 26. doi: 10.1016/j.ydbio.2019.01.014

PMCID:: PMC6445374

Abstract Article PDF–2.0M

Select item 56404977.

Altered Cav1.2 function in the Timothy Syndrome mouse model produces ascending serotonergic abnormalities

Daniel G. Ehlinger, Kathryn G. Commons

Eur J Neurosci. Author manuscript; available in PMC 2018 Oct 5.

Published in final edited form as: Eur J Neurosci. 2017 Oct; 46(8): 2416–2425. Published online 2017 Oct 5. doi: 10.1111/ejn.13707

PMCID:: PMC5640497

Abstract Article PDF–1.2M

Select item 54289748.

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

Ethiraj Ravindran, Hao Hu, Scott A. Yuzwa, Luis R. Hernandez-Miranda, Nadine Kraemer, Olaf Ninnemann, Luciana Musante, Eugen Boltshauser, Detlev Schindler, Angela Hübner, Hans-Christian Reinecker, Hans-Hilger Ropers, Carmen Birchmeier, Freda D. Miller, Thomas F. Wienker, Christoph Hübner, Angela M. Kaindl

PLoS Genet. 2017 Apr; 13(4): e1006746. Published online 2017 Apr 28. doi: 10.1371/journal.pgen.1006746

PMCID:: PMC5428974

Abstract Article PDF–27M

Select item 46327899.

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation

Dietmar R. Thal, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle, Matthis Synofzik

Int J Mol Sci. 2015 Oct; 16(10): 25050–25066. Published online 2015 Oct 21. doi: 10.3390/ijms161025050

PMCID:: PMC4632789

Abstract Article PDF–7.6M

Select item 412939910.

Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis

Joshua D. Smith, Anne V. Hing, Christine M. Clarke, Nathan M. Johnson, Francisco A. Perez, Sarah S. Park, Jeremy A. Horst, Brig Mecham, Lisa Maves, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael L. Cunningham

Am J Hum Genet. 2014 Aug 7; 95(2): 235–240. doi: 10.1016/j.ajhg.2014.07.008

PMCID:: PMC4129399

Abstract Article PDF–1.9M

Select item 291394111.

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

Abstract Article PDF–1.5M

Select item 260057612.

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

Abstract Article PDF–5.6M

Select item 756984013.

PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development

Sahar I. Da’as, Waleed Aamer, Waseem Hasan, Aljazi Al-Maraghi, Alya Al-Kurbi, Houda Kilani, Jehan AlRayahi, Khaled Zamel, Mitchell A. Stotland, Khalid A. Fakhro

Cells. 2020 Aug; 9(8): 1782. Published online 2020 Jul 27. doi: 10.3390/cells9081782

PMCID:: PMC7569840

Abstract Article PDF–3.9M

Select item 698113814.

Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome

Alexis Cooper, Tamer Butto, Niklas Hammer, Somanath Jagannath, Desiree Lucia Fend-Guella, Junaid Akhtar, Konstantin Radyushkin, Florian Lesage, Jennifer Winter, Susanne Strand, Jochen Roeper, Ulrich Zechner, Susann Schweiger

Nat Commun. 2020; 11: 480. Published online 2020 Jan 24. doi: 10.1038/s41467-019-13918-4