PMC Articles for MedGen (Select 1382291) - PMC

Select item 104321441.

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Manuela Morleo, Rossella Venditti, Evangelos Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi, Roberta Tammaro, Nour Al-Badri, Frances A. High, Jiahai Shi, Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Elena Putti, Luigi Ferrante, Viviana Cetrangolo, Annalaura Torella, Melissa A. Walker, Romano Tenconi, Maria Iascone, Davide Mei, Renzo Guerrini, Jasper van der Smagt, Hester Y. Kroes, Koen L.I. van Gassen, Muhammad Bilal, Muhammad Umair, Veronica Pingault, Tania Attie-Bitach, Jeannine Amiel, Resham Ejaz, Lance Rodan, Marcella Zollino, Pankaj B. Agrawal, Filippo Del Bene, Vincenzo Nigro, David A. Sweetser, Brunella Franco

Am J Hum Genet. 2023 Aug 3; 110(8): 1377–1393. Published online 2023 Jul 13. doi: 10.1016/j.ajhg.2023.06.012

PMCID:: PMC10432144

Abstract Article PDF–5.2M

Select item 83762052.

A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant

Nivedita Patni, Sarah Hatab, Chao Xing, Zhengyang Zhou, Claudia Quittner, Abhimanyu Garg

J Med Genet. Author manuscript; available in PMC 2021 Aug 19.

Published in final edited form as: J Med Genet. 2020 Jun; 57(6): 422–426. Published online 2019 Dec 19. doi: 10.1136/jmedgenet-2019-106395

PMCID:: PMC8376205

Abstract Article PDF–511K

Select item 53391123.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Daniel P.S. Osborn, Heather L. Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J. Munn, Khaloob Mushref, Edmund S. Cauley, Isabella Moroni, Maria Barbara Pasanisi, Elizabeth A. Sellars, R. Sean Hill, Jennifer N. Partlow, Rebecca K. Willaert, Jaipreet Bharj, Reza Azizi Malamiri, Hamid Galehdari, Gholamreza Shariati, Reza Maroofian, Marina Mora, Laura E. Swan, Thomas Voit, Francesco J. Conti, Yalda Jamshidi, M. Chiara Manzini

Am J Hum Genet. 2017 Mar 2; 100(3): 537–545. Published online 2017 Feb 9. doi: 10.1016/j.ajhg.2017.01.019

PMCID:: PMC5339112

Abstract Article PDF–2.3M

Select item 53392174.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Manuela Wiessner, Andreas Roos, Christopher J. Munn, Ranjith Viswanathan, Tamieka Whyte, Dan Cox, Benedikt Schoser, Caroline Sewry, Helen Roper, Rahul Phadke, Chiara Marini Bettolo, Rita Barresi, Richard Charlton, Carsten G. Bönnemann, Osório Abath Neto, Umbertina C. Reed, Edmar Zanoteli, Cristiane Araújo Martins Moreno, Birgit Ertl-Wagner, Rolf Stucka, Christian De Goede, Tamiris Borges da Silva, Denisa Hathazi, Margherita Dell’Aica, René P. Zahedi, Simone Thiele, Juliane Müller, Helen Kingston, Susanna Müller, Elizabeth Curtis, Maggie C. Walter, Tim M. Strom, Volker Straub, Kate Bushby, Francesco Muntoni, Laura E. Swan, Hanns Lochmüller, Jan Senderek

Am J Hum Genet. 2017 Mar 2; 100(3): 523–536. Published online 2017 Feb 9. doi: 10.1016/j.ajhg.2017.01.024

PMCID:: PMC5339217

Abstract Article PDF–2.0M

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