PMC Articles for MedGen (Select 767432) - PMC

Andrew Dhawan, Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Thomas W. Frazier, Siddharth Srivastava, Sumit Parikh, Gary E. Hsich, Neil R. Friedman, David M. Ritter, Antonio Y. Hardan, Julian A. Martinez‐Agosto, Mustafa Sahin, Charis Eng

Ann Clin Transl Neurol. 2024 May; 11(5): 1301–1309. Published online 2024 Mar 19. doi: 10.1002/acn3.52046

PMCID:: PMC11093251

Abstract Article PDF–664K

Select item 108975134.

Cell-free DNA fragmentomics and second malignant neoplasm risk in patients with PTEN hamartoma tumor syndrome

Darren Liu, Lamis Yehia, Andrew Dhawan, Ying Ni, Charis Eng

Cell Rep Med. 2024 Feb 20; 5(2): 101384. Published online 2024 Jan 18. doi: 10.1016/j.xcrm.2023.101384

PMCID:: PMC10897513

Abstract Article PDF–4.5M

Select item 101721955.

Functional analysis of PTEN variants of unknown significance from PHTS patients unveils complex patterns of PTEN biological activity in disease

Leire Torices, Janire Mingo, Isabel Rodríguez-Escudero, Teresa Fernández-Acero, Sandra Luna, Caroline E. Nunes-Xavier, José I. López, Fátima Mercadillo, María Currás, Miguel Urioste, María Molina, Víctor J. Cid, Rafael Pulido

Eur J Hum Genet. 2023 May; 31(5): 568–577. Published online 2022 Dec 21. doi: 10.1038/s41431-022-01265-w

PMCID:: PMC10172195

Abstract Article PDF–1.5M

Select item 101268716.

Longitudinal Analysis of Cancer Risk in Children and Adults With Germline PTEN Variants

Lamis Yehia, Gilman Plitt, Ann M. Tushar, Julia Joo, Carol A. Burke, Steven C. Campbell, Katherine Heiden, Judy Jin, Carole Macaron, Chad M. Michener, Holly J. Pederson, Kadakkal Radhakrishnan, Joyce Shin, Joan Tamburro, Sujata Patil, Charis Eng

JAMA Netw Open. 2023 Apr; 6(4): e239705. Published online 2023 Apr 24. doi: 10.1001/jamanetworkopen.2023.9705

PMCID:: PMC10126871

Abstract Article

Select item 99288707.

Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing

Shelly Cummings, Andrew Alfonso, Elisha Hughes, Matt Kucera, Brent Mabey, Nanda Singh, Charis Eng

JCO Precis Oncol. 2023 Jan; 7: e2200415. Published online 2023 Jan 12. doi: 10.1200/PO.22.00415

PMCID:: PMC9928870

Abstract Article PDF–226K

Select item 97776208.

Strong Hereditary Predispositions to Colorectal Cancer

Szymon Hryhorowicz, Marta Kaczmarek-Ryś, Emilia Lis-Tanaś, Jakub Porowski, Marcin Szuman, Natalia Grot, Alicja Kryszczyńska, Jacek Paszkowski, Tomasz Banasiewicz, Andrzej Pławski

Genes (Basel) 2022 Dec; 13(12): 2326. Published online 2022 Dec 10. doi: 10.3390/genes13122326

PMCID:: PMC9777620

Abstract Article PDF–1.0M

Select item 93883809.

Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants

Takae Brewer, Lamis Yehia, Peter Bazeley, Charis Eng

Am J Hum Genet. 2022 Aug 4; 109(8): 1520–1533. Published online 2022 Aug 5. doi: 10.1016/j.ajhg.2022.07.005

PMCID:: PMC9388380

Abstract Article PDF–1.9M

Select item 935722710.

Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: results of a multi-center cohort study

Frederick C. Morgan, Lamis Yehia, Christine McDonald, Julian A. Martinez-Agosto, Antonio Y. Hardan, Joan Tamburro, Mustafa Sahin, Cheryl Bayart, Charis Eng

J Am Acad Dermatol. Author manuscript; available in PMC 2024 Jul 1.

Published in final edited form as: J Am Acad Dermatol. 2023 Jul; 89(1): 90–98. Published online 2022 Feb 7. doi: 10.1016/j.jaad.2022.01.045

PMCID:: PMC9357227

Abstract Article PDF–509K

Select item 918778911.

Sclerosing Polycystic Adenoma: Conclusive Clinical and Molecular Evidence of Its Neoplastic Nature

Juan C. Hernandez-Prera, Daryoush Saeed-Vafa, Amin Heidarian, Kathleen Gewandter, Kristen Otto, Bruce M. Wenig

Head Neck Pathol. 2022 Jun; 16(2): 416–426. Published online 2021 Aug 19. doi: 10.1007/s12105-021-01374-w

PMCID:: PMC9187789

Abstract Article PDF–2.1M

Select item 910924512.

Dysplastic gangliocytoma of the cerebellum in a cat

Michelle Imlau, Mamoun Saeed, Jane Cryan, Seamus Hoey, Myles McKenna, Hanne Jahns, Pamela Kelly

Vet Pathol. 2022 May; 59(3): 459–462. Published online 2022 Feb 7. doi: 10.1177/03009858221075594

PMCID:: PMC9109245

Abstract Article PDF–915K

Select item 894394413.

Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers

Cartik Kothari, Siddharth Srivastava, Youssef Kousa, Rima Izem, Marcin Gierdalski, Dongkyu Kim, Amy Good, Kira A. Dies, Gregory Geisel, Hiroki Morizono, Vittorio Gallo, Scott L. Pomeroy, Gwenn A. Garden, Lisa Guay-Woodford, Mustafa Sahin, Paul Avillach

J Neurodev Disord. 2022; 14: 24. Published online 2022 Mar 23. doi: 10.1186/s11689-022-09434-0

PMCID:: PMC8943944

Abstract Article PDF–889K

Select item 857120214.

“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”

Gerdi Tuli, Jessica Munarin, Alessandro Mussa, Diana Carli, Roberto Gastaldi, Paola Borgia, Maria Cristina Vigone, Marco Abbate, Giovanni Battista Ferrero, Luisa De Sanctis

Endocrine. 2021; 74(3): 632–637. Published online 2021 Jun 28. doi: 10.1007/s12020-021-02805-y

PMCID:: PMC8571202

Abstract Article PDF–343K

Select item 851308315.

Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome

Kim M. Keppler-Noreuil, Jay Lozier, Neal Oden, Anjali Taneja, Jasmine Burton-Akright, Julie C. Sapp, Leslie G. Biesecker

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2021 Oct 13.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2019 Dec; 181(4): 571–581. Published online 2019 Sep 6. doi: 10.1002/ajmg.c.31735

PMCID:: PMC8513083

Abstract Article PDF–2.0M

Select item 838584716.

Clinical, Immunological, and Virological SARS-CoV-2 Phenotypes in Obese and Nonobese Military Health System Beneficiaries

Nusrat J Epsi, Stephanie A Richard, Eric D Laing, Anthony C Fries, Eugene Millar, Mark P Simons, Caroline English, Christopher J Colombo, Rhonda E Colombo, David A Lindholm, Anuradha Ganesan, Ryan C Maves, Nikhil Huprikar, Derek Larson, Katrin Mende, Sharon W Chi, Cristian Madar, Tahaniyat Lalani, Christopher C Broder, David Tribble, Brian K Agan, Timothy H Burgess, Simon D Pollett, EPICC COVID-19 Cohort Study Group

J Infect Dis. 2021 Nov 1; 224(9): 1462–1472. Published online 2021 Jul 31. doi: 10.1093/infdis/jiab396