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Items: 13

Select item 113373821.

Congenital disorders involving defective N-glycosylation of proteins

H. Schachter

Cell Mol Life Sci. 2001 Jul; 58(8): 1085–1104. doi: 10.1007/PL00000923

PMCID:: PMC11337382

Abstract Article PDF–165K

Select item 86399302.

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

Pasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, Nicolas Guex, Jacqueline Chrast, Audrey Putoux, Tipu Sultan, Javeria Raza Alvi, Zia ur Rahman, Faisal Zafar, Nuzhat Rana, Fatima Rahman, Najwa Anwar, Shazia Maqbool, Maha S Zaki, Joseph G Gleeson, David Murphy, Hamid Galehdari, Gholamreza Shariati, Neda Mazaheri, Alireza Sedaghat, SYNAPS Study Group, Gaetan Lesca, Nicolas Chatron, Vincenzo Salpietro, Marilena Christoforou, Henry Houlden, William F Simonds, Thierry Pedrazzini, Reza Maroofian, Alexandre Reymond

J Med Genet. 2021 Dec; 58(12): 815–831. Published online 2020 Nov 10. doi: 10.1136/jmedgenet-2020-107015

PMCID:: PMC8639930

Abstract Article PDF–6.3M

Select item 70237203.

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

Vincent Picher-Martel, Yvan Labrie, Serge Rivest, Baiba Lace, Nicolas Chrestian

BMC Neurol. 2020; 20: 58. Published online 2020 Feb 15. doi: 10.1186/s12883-020-01643-1

PMCID:: PMC7023720

Abstract Article PDF–2.4M

Select item 60894484.

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination

Amandine Duchesne, Anne Vaiman, Magali Frah, Sandrine Floriot, Sabrina Legoueix-Rodriguez, Anne Desmazières, Sébastien Fritz, Christian Beauvallet, Olivier Albaric, Eric Venot, Maud Bertaud, Romain Saintilan, Raphaël Guatteo, Diane Esquerré, Julien Branchu, Anaïs Fleming, Alexis Brice, Frédéric Darios, Jean-Luc Vilotte, Giovanni Stevanin, Didier Boichard, Khalid Hamid El Hachimi

PLoS Genet. 2018 Aug; 14(8): e1007550. Published online 2018 Aug 1. doi: 10.1371/journal.pgen.1007550

PMCID:: PMC6089448

Abstract Article PDF–17M

Select item 60741285.

The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin

Ilham Ratbi, Jaber Lyahyai, Meryem Kabiri, Meryem Banouar, Maria Zerkaoui, Amina Barkat, Abdelaziz Sefiani

Ann Saudi Med. 2015 Mar-Apr; 35(2): 170–172. doi: 10.5144/0256-4947.2015.170

PMCID:: PMC6074128

Abstract Article PDF–836K

Select item 53131146.

UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase

Andrea Braganza, Jianfeng Li, Xuemei Zeng, Nathan A. Yates, Nupur B. Dey, Joel Andrews, Jennifer Clark, Leila Zamani, Xiao-hong Wang, Claudette St. Croix, Roderick O'Sullivan, Laura Garcia-Exposito, Jeffrey L. Brodsky, Robert W. Sobol

J Biol Chem. 2017 Feb 10; 292(6): 2470–2484. Published online 2016 Dec 21. doi: 10.1074/jbc.M116.766824

PMCID:: PMC5313114

Abstract Article PDF–2.6M

Select item 41943967.

Brain Morphological Defects in Prolidase Deficient Mice: First Report

V. Insolia, V.M. Piccolini

Eur J Histochem. 2014 Jul 18; 58(3): 2417. Published online 2014 Sep 17. doi: 10.4081/ejh.2014.2417

PMCID:: PMC4194396

Abstract Article PDF–289K

Select item 40216088.

A nationwide survey on Marinesco-Sjögren syndrome in Japan

Masahide Goto, Mari Okada, Hirofumi Komaki, Kenji Sugai, Masayuki Sasaki, Satoru Noguchi, Ikuya Nonaka, Ichizo Nishino, Yukiko K Hayashi

Orphanet J Rare Dis. 2014; 9: 58. Published online 2014 Apr 23. doi: 10.1186/1750-1172-9-58

PMCID:: PMC4021608

Abstract Article PDF–397K

Select item 32345029.

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

Kaja K Selmer, Gregor D Gilfillan, Petter Strømme, Robert Lyle, Timothy Hughes, Hanne S Hjorthaug, Kristin Brandal, Sigve Nakken, Doriana Misceo, Thore Egeland, Ludvig A Munthe, Sigrun K Braekken, Dag E Undlien

Eur J Hum Genet. 2012 Jan; 20(1): 58–63. Published online 2011 Jun 29. doi: 10.1038/ejhg.2011.126

PMCID:: PMC3234502

Abstract Article PDF–419K

Select item 307192010.

Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

Danai Bem, Shin-Ichiro Yoshimura, Ricardo Nunes-Bastos, Frances F. Bond, Manju A. Kurian, Fatima Rahman, Mark T.W. Handley, Yavor Hadzhiev, Imran Masood, Ania A. Straatman-Iwanowska, Andrew R. Cullinane, Alisdair McNeill, Shanaz S. Pasha, Gail A. Kirby, Katharine Foster, Zubair Ahmed, Jenny E. Morton, Denise Williams, John M. Graham, William B. Dobyns, Lydie Burglen, John R. Ainsworth, Paul Gissen, Ferenc Müller, Eamonn R. Maher, Francis A. Barr, Irene A. Aligianis

Am J Hum Genet. 2011 Apr 8; 88(4): 499–507. doi: 10.1016/j.ajhg.2011.03.012