PMC Articles for MedGen (Select 977842) - PMC

Select item 106525301.

An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia

Alena Welters, Sarah M Leiter, Nadine Bachmann, Carsten Bergmann, Henrike Hoermann, Eckhard Korsch, Thomas Meissner, Felicity Payne, Rachel Williams, Khalid Hussain, Robert K. Semple, Sebastian Kummer

Orphanet J Rare Dis. 2023; 18: 360. Published online 2023 Nov 16. doi: 10.1186/s13023-023-02954-5

PMCID:: PMC10652530

Abstract Article PDF–1.1M

Select item 97629442.

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

Siddharth Banka, Abigail Bennington, Martin J Baker, Ellen Rijckmans, Giuliana D Clemente, Nurhuda Mohamad Ansor, Hilary Sito, Pritha Prasad, Kwame Anyane-Yeboa, Lauren Badalato, Boyan Dimitrov, David Fitzpatrick, Anna C E Hurst, Anna C Jansen, Melissa A Kelly, Ian Krantz, Claudine Rieubland, Meredith Ross, Natasha L Rudy, Javier Sanz, Katrien Stouffs, Zhuo Luan Xu, Angeliki Malliri, Marcelo G Kazanietz, Tom H Millard

Brain. 2022 Dec; 145(12): 4232–4245. Published online 2022 Feb 10. doi: 10.1093/brain/awac049

PMCID:: PMC9762944

Abstract Article PDF–1.3M

Select item 64369523.

From microcephaly to megalencephaly: determinants of brain size

Filomena Pirozzi, Branden Nelson, Ghayda Mirzaa

Dialogues Clin Neurosci. 2018 Dec; 20(4): 267–282. doi: 10.31887/DCNS.2018.20.4/gmirzaa

PMCID:: PMC6436952

Abstract Article PDF–3.0M

Select item 61466294.

Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

Alice Maguolo, Franco Antoniazzi, Alice Spano, Elena Fiorini, Rossella Gaudino, Margherita Mauro, Gaetano Cantalupo, Paolo Biban, Silvia Maitz, Paolo Cavarzere

Ital J Pediatr. 2018; 44: 110. Published online 2018 Sep 19. doi: 10.1186/s13052-018-0568-8

PMCID:: PMC6146629

Abstract Article PDF–2.0M

Select item 57521345.

Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias

Alissa M. D’Gama, Mollie B. Woodworth, Amer A. Hossain, Sara Bizzotto, Nicole E. Hatem, Christopher M. LaCoursiere, Imad Najm, Zhong Ying, Edward Yang, A. James Barkovich, David J. Kwiatkowski, Harry V Vinters, Joseph R. Madsen, Gary W. Mathern, Ingmar Blümcke, Annapurna Poduri, Christopher A. Walsh

Cell Rep. Author manuscript; available in PMC 2018 Jan 3.

Published in final edited form as: Cell Rep. 2017 Dec 26; 21(13): 3754–3766. doi: 10.1016/j.celrep.2017.11.106

PMCID:: PMC5752134

Abstract Article PDF–1.0M

Select item 43206936.

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum

Kim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, Victoria ER Parker, Cathy Blumhorst, Thomas Darling, Laura L Tosi, Susan M Huson, Richard W Whitehouse, Eveliina Jakkula, Ian Grant, Meena Balasubramanian, Kate E Chandler, Jamie L Fraser, Zoran Gucev, Yanick J Crow, Leslie Manace Brennan, Robin Clark, Elizabeth A Sellars, Loren DM Pena, Vidya Krishnamurty, Andrew Shuen, Nancy Braverman, Michael L Cunningham, V Reid Sutton, Velibor Tasic, John M Graham, Jr., Joseph Geer, Jr., Alex Henderson, Robert K Semple, Leslie G Biesecker

Am J Med Genet A. 2014 Jul; 164(7): 1713–1733. Published online 2014 Apr 29. doi: 10.1002/ajmg.a.36552

PMCID:: PMC4320693

Abstract Article PDF–3.7M

Select item 40546817.

Virmid: accurate detection of somatic mutations with sample impurity inference

Sangwoo Kim, Kyowon Jeong, Kunal Bhutani, Jeong Ho Lee, Anand Patel, Eric Scott, Hojung Nam, Hayan Lee, Joseph G Gleeson, Vineet Bafna

Genome Biol. 2013; 14(8): R90. Published online 2013 Aug 29. doi: 10.1186/gb-2013-14-8-r90

PMCID:: PMC4054681

Abstract Article PDF–1.8M

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