PMC Links for Books (Select 1462138) - PMC

Links from Books

Items: 1 to 20 of 26

<< First< Prev

Page of 2

Select item 69869841.

Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study

Julio E. Villalón-Reina, Kenia Martínez, Xiaoping Qu, Christopher R. K. Ching, Talia M. Nir, Deydeep Kothapalli, Conor Corbin, Daqiang Sun, Amy Lin, Jennifer K. Forsyth, Leila Kushan, Ariana Vajdi, Maria Jalbrzikowski, Laura Hansen, Rachel K. Jonas, Therese van Amelsvoort, Geor Bakker, Wendy R. Kates, Kevin M. Antshel, Wanda Fremont, Linda E. Campbell, Kathryn L. McCabe, Eileen Daly, Maria Gudbrandsen, Clodagh M. Murphy, Declan Murphy, Michael Craig, Beverly Emanuel, Donna M. McDonald-McGinn, Jacob A.S. Vorstman, Ania M. Fiksinski, Sanne Koops, Kosha Ruparel, David Roalf, Raquel E. Gur, J. Eric Schmitt, Tony J. Simon, Naomi J. Goodrich-Hunsaker, Courtney A. Durdle, Joanne L. Doherty, Adam C. Cunningham, Marianne van den Bree, David E. J. Linden, Michael Owen, Hayley Moss, Sinead Kelly, Gary Donohoe, Kieran C. Murphy, Celso Arango, Neda Jahanshad, Paul M. Thompson, Carrie E. Bearden

Mol Psychiatry. 2020; 25(11): 2818–2831. Published online 2019 Jul 29. doi: 10.1038/s41380-019-0450-0

PMCID:: PMC6986984

Article PDF–2.8M

Select item 65012142.

What’s New with 22q? An update from the 22q and You Center at the Children’s Hospital of Philadelphia

Ian M. Campbell, Sarah E. Sheppard, T. Blaine Crowley, Daniel E. McGinn, Alice Bailey, Michael J. McGinn, Marta Unolt, Jelle F. Homans, Erin Y. Chen, Harold I. Salmons, J. William Gaynor, Elizabeth Goldmuntz, Oksana A. Jackson, Lorraine E. Katz, Maria R. Mascarenhas, Vincent F. X. Deeney, Rene M. Castelein, Karen B. Zu, Lisa Elden, Staci Kallish, Thomas F. Kolon, Sarah E. Hopkins, Madeline A. Chadehumbe, Michele P. Lambert, Brian J. Forbes, Julie S. Moldenhauer, Erica M. Schindewolf, Cynthia B. Solot, Edward M. Moss, Raquel E. Gur, Kathleen E. Sullivan, Beverly S. Emanuel, Elaine H. Zackai, Donna M. McDonald-McGinn

Am J Med Genet A. Author manuscript; available in PMC 2019 May 6.

Published in final edited form as: Am J Med Genet A. 2018 Oct; 176(10): 2058–2069. doi: 10.1002/ajmg.a.40637

PMCID:: PMC6501214

Article PDF–618K

Select item 64703573.

Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome

Blaine Crowley, Melanie Ruffner, Donna M. McDonald McGinn, Kathleen E. Sullivan

Am J Med Genet A. Author manuscript; available in PMC 2019 Oct 1.

Published in final edited form as: Am J Med Genet A. 2018 Oct; 176(10): 2082–2086. Published online 2018 Jan 17. doi: 10.1002/ajmg.a.38597

PMCID:: PMC6470357

Article PDF–295K

Select item 62022624.

Neurodevelopmental outcome in 22q11.2 deletion syndrome and management

Ann Swillen, Edward Moss, Sasja Duijff

Am J Med Genet A. Author manuscript; available in PMC 2018 Oct 31.

Published in final edited form as: Am J Med Genet A. 2018 Oct; 176(10): 2160–2166. Published online 2018 Apr 25. doi: 10.1002/ajmg.a.38709

PMCID:: PMC6202262

Article PDF–506K

Select item 53632755.

22q11.2 Deletion Syndrome in Diverse Populations

Paul Kruszka, Yonit A. Addissie, Daniel E. McGinn, Antonio R. Porras, Elijah Biggs, Matthew Share, T. Blaine Crowley, Brian H.Y. Chung, Gary T.K. Mok, Christopher CY Mak, Premala Muthukumarasamy, Meow-Keong Thong, Nirmala D. Sirisena, Vajira H.W. Dissanayake, C. Sampath Paththinige, L.B. Lahiru Prabodha, Rupesh Mishra, Vorasuk Shotelersuk, Ekanem Nsikak Ekure, Ogochukwu Jidechukwu Sokunbi, Nnenna Kalu, Carlos R. Ferreira, Jordann-Mishael Duncan, Siddaramappa Jagdish Patil, Kelly L. Jones, Julie D. Kaplan, Omar A. Abdul-Rahman, Annette Uwineza, Leon Mutesa, Angélica Moresco, María Gabriela Obregon, Antonio Richieri-Costa, Vera L Gil-da-Silva-Lopes, Adebowale A. Adeyemo, Marshall Summar, Elaine H. Zackai, Donna M. McDonald-McGinn, Marius George Linguraru, Maximilian Muenke

Am J Med Genet A. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Am J Med Genet A. 2017 Apr; 173(4): 879–888. doi: 10.1002/ajmg.a.38199

PMCID:: PMC5363275

Article PDF–1.1M

Select item 52166166.

Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis

Xingyi Guo, Maria Delio, Nousin Haque, Raquel Castellanos, Matthew S. Hestand, Joris R. Vermeesch, Bernice E. Morrow, Deyou Zheng

Hum Mol Genet. 2016 Sep 1; 25(17): 3754–3767. Published online 2016 Jul 19. doi: 10.1093/hmg/ddw221

PMCID:: PMC5216616

Article PDF–838K

Select item 50610357.

Developmental Trajectories in 22q11.2 Deletion

Prof. Ann Swillen, Prof. Donna M. McDonald-McGinn

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2016 Oct 12.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2015 Jun; 169(2): 172–181. Published online 2015 May 18. doi: 10.1002/ajmg.c.31435

PMCID:: PMC5061035

Article PDF–557K

Select item 49004718.

22q11.2 deletion syndrome

Donna M. McDonald-McGinn, Kathleen E. Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob A. S. Vorstman, Elaine H. Zackai, Beverly S. Emanuel, Joris R. Vermeesch, Bernice E. Morrow, Peter J. Scambler, Anne S. Bassett

Nat Rev Dis Primers. Author manuscript; available in PMC 2016 Jun 9.

Published in final edited form as: Nat Rev Dis Primers. 2015; 1: 15071. Published online 2015 Nov 19. doi: 10.1038/nrdp.2015.71

PMCID:: PMC4900471

Article PDF–2.3M

Select item 45262759.

Practical guidelines for managing adults with 22q11.2 deletion syndrome

Wai Lun Alan Fung, Nancy J. Butcher, Gregory Costain, Danielle M. Andrade, Erik Boot, Eva W.C. Chow, Brian Chung, Cheryl Cytrynbaum, Hanna Faghfoury, Leona Fishman, Sixto García-Miñaúr, Susan George, Anthony E. Lang, Gabriela Repetto, Andrea Shugar, Candice Silversides, Ann Swillen, Therese van Amelsvoort, Donna M. McDonald-McGinn, Anne S. Bassett

Genet Med. Author manuscript; available in PMC 2015 Aug 5.

Published in final edited form as: Genet Med. 2015 Aug; 17(8): 599–609. Published online 2015 Jan 8. doi: 10.1038/gim.2014.175

PMCID:: PMC4526275

Article PDF–368K

Select item 423125710.

Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome

Evelyn Ning Man Cheung, Susan R George, Gary A Costain, Danielle M Andrade, Eva W C Chow, Candice K Silversides, Anne S Bassett

Clin Endocrinol (Oxf) 2014 Jan; 81(2): 190–196. Published online 2014 Jan 1. doi: 10.1111/cen.12466

PMCID:: PMC4231257

Article PDF–257K

Select item 409884811.

CHARGE Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Non-Immunologic Phenotypic Features

Soma Jyonouchi, Donna M. McDonald-McGinn, Sherri Bale, Elaine H. Zackai, Kathleen E. Sullivan

Pediatrics. Author manuscript; available in PMC 2014 Jul 15.

Published in final edited form as: Pediatrics. 2009 May; 123(5): e871–e877. doi: 10.1542/peds.2008-3400

PMCID:: PMC4098848

Article PDF–54K

Select item 408030912.

Aortic Root Dilation in Patients With 22q11.2 Deletion Syndrome

Anitha S. John, Donna M. McDonald-McGinn, Elaine H. Zackai, Elizabeth Goldmuntz

Am J Med Genet A. Author manuscript; available in PMC 2014 Jul 3.

Published in final edited form as: Am J Med Genet A. 2009 May; 0(5): 939–942. doi: 10.1002/ajmg.a.32770

PMCID:: PMC4080309

Article PDF–76K

Select item 387783313.

Psychopathology and cognition in children with 22q11.2 deletion syndrome

Maria Niarchou, Stanley Zammit, Stephanie H. M. van Goozen, Anita Thapar, Hayley M. Tierling, Michael J. Owen, Marianne B. M. van den Bree

Br J Psychiatry. 2014 Jan; 204(1): 46–54. doi: 10.1192/bjp.bp.113.132324

PMCID:: PMC3877833

Article

Select item 319782914.

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Anne S. Bassett, Donna M. McDonald-McGinn, Koen Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Solveig Oskarsdottir, Nicole Philip, Kathleen Sullivan, Ann Swillen, Jacob Vorstman, The International 22q11.2 Deletion Syndrome Consortium

J Pediatr. Author manuscript; available in PMC 2011 Oct 21.

Published in final edited form as: J Pediatr. 2011 Aug; 159(2): 332–9.e1. Published online 2011 May 12. doi: 10.1016/j.jpeds.2011.02.039