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Select item 105454501.

Sequential Stem Cell–Kidney Transplantation in Schimke Immuno-osseous Dysplasia

Alice Bertaina, Paul C. Grimm, Kenneth Weinberg, Robertson Parkman, Karen M. Kristovich, Giulia Barbarito, Elizabeth Lippner, Girija Dhamdhere, Vasavi Ramachandran, Jordan M. Spatz, Sahar Fathallah-Shaykh, T. Prescott Atkinson, Amira Al-Uzri, Geraldine Aubert, Kim van der Elst, Sean G. Green, Rajni Agarwal, Priscila F. Slepicka, Ami J. Shah, Maria G. Roncarolo, Amy Gallo, Waldo Concepcion, David B. Lewis

N Engl J Med. Author manuscript; available in PMC 2023 Oct 2.

Published in final edited form as: N Engl J Med. 2022 Jun 16; 386(24): 2295–2302. doi: 10.1056/NEJMoa2117028

PMCID:: PMC10545450

Abstract Article PDF–921K

Select item 100819542.

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier-Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew Warman, Andrea Superti-Furga

Am J Med Genet A. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Am J Med Genet A. 2023 May; 191(5): 1164–1209. Published online 2023 Feb 13. doi: 10.1002/ajmg.a.63132

PMCID:: PMC10081954

Abstract Article PDF–894K

Select item 93144843.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 80951364.

Activity of blinatumomab in lymphoblastic leukemia with impaired T-cell immunity due to congenital immunodeficiency

Sandheeah Ramdeny, Asima Chaudhary, Austen Worth, Sara Ghorashian, Mary Slatter, Su Han Lum, Ajay Vora

Blood Adv. 2021 Apr 27; 5(8): 2153–2155. Published online 2021 Apr 21. doi: 10.1182/bloodadvances.2021004284

PMCID:: PMC8095136

Abstract Article PDF–576K

Select item 59623455.

Functions of SMARCAL1, ZRANB3, and HLTF in maintaining genome stability

Lisa A. Poole, David Cortez

Crit Rev Biochem Mol Biol. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Crit Rev Biochem Mol Biol. 2017 Dec; 52(6): 696–714. Published online 2017 Sep 28. doi: 10.1080/10409238.2017.1380597

PMCID:: PMC5962345

Abstract Article PDF–1.2M

Select item 55520976.

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

Beata S. Lipska-Ziętkiewicz, Jutta Gellermann, Olivia Boyer, Olivier Gribouval, Szymon Ziętkiewicz, Jameela A. Kari, Mohamed A. Shalaby, Fatih Ozaltin, Jiri Dusek, Anette Melk, Aysun K. Bayazit, Laura Massella, Lidia Hyla-Klekot, Sandra Habbig, Astrid Godron, Maria Szczepańska, Beata Bieniaś, Dorota Drożdż, Rasha Odeh, Wioletta Jarmużek, Katarzyna Zachwieja, Agnes Trautmann, Corinne Antignac, Franz Schaefer, on behalf of The PodoNet Consortium

PLoS One. 2017; 12(8): e0180926. Published online 2017 Aug 10. doi: 10.1371/journal.pone.0180926

PMCID:: PMC5552097

Abstract Article PDF–3.0M

Select item 47439097.

A Novel Splice Site Mutation in SMARCAL1 Results in Aberrant Exon Definition in a Child with Schimke Immunoosseous Dysplasia

Clinton Carroll, Tracy E. Hunley, Yan Guo, David Cortez

Am J Med Genet A. Author manuscript; available in PMC 2016 Oct 1.

Published in final edited form as: Am J Med Genet A. 2015 Oct; 0(10): 2260–2264. Published online 2015 May 5. doi: 10.1002/ajmg.a.37146

PMCID:: PMC4743909

Abstract Article PDF–1.2M

Select item 45447538.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 37880579.

Bone marrow transplantation in Schimke immuno-osseous dysplasia

Alireza Baradaran-Heravi, Jonas Lange, Yumi Asakura, Pierre Cochat, Laura Massella, Cornelius F. Boerkoel

Am J Med Genet A. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Am J Med Genet A. 2013 Oct; 161(10): 2609–2613. Published online 2013 Aug 15. doi: 10.1002/ajmg.a.36111

PMCID:: PMC3788057

Abstract Article PDF–48K

Select item 356870910.

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Marie Morimoto, Zhongxin Yu, Peter Stenzel, J Marietta Clewing, Behzad Najafian, Christy Mayfield, Glenda Hendson, Justin G Weinkauf, Andrew K Gormley, David M Parham, Umakumaran Ponniah, Jean-Luc André, Yumi Asakura, Mitra Basiratnia, Radovan Bogdanović, Arend Bokenkamp, Dominique Bonneau, Anna Buck, Joel Charrow, Pierre Cochat, Isabel Cordeiro, Georges Deschenes, M Semin Fenkçi, Pierre Frange, Stefan Fründ, Helen Fryssira, Encarna Guillen-Navarro, Kory Keller, Salman Kirmani, Christine Kobelka, Petra Lamfers, Elena Levtchenko, David B Lewis, Laura Massella, D Ross McLeod, David V Milford, François Nobili, Jorge M Saraiva, C Nur Semerci, Lawrence Shoemaker, Nataša Stajić, Anja Stein, Doris Taha, Dorothea Wand, Jonathan Zonana, Thomas Lücke, Cornelius F Boerkoel

Orphanet J Rare Dis. 2012; 7: 70. Published online 2012 Sep 22. doi: 10.1186/1750-1172-7-70

PMCID:: PMC3568709

Abstract Article PDF–3.9M

Select item 342964411.

SMARCAL1 Deficiency Predisposes to Non-Hodgkin Lymphoma and Hypersensitivity to Genotoxic Agents In vivo

Alireza Baradaran-Heravi, Anja Raams, Joanna Lubieniecka, Kyoung Sang Cho, Kristi A. DeHaai, Mitra Basiratnia, Pierre-Olivier Mari, Yutong Xue, Michael Rauth, Ann Haskins Olney, Mary Shago, Kunho Choi, Rosanna A. Weksberg, Malgorzata J.M. Nowaczyk, Weidong Wang, Nicolaas G.J. Jaspers, Cornelius F. Boerkoel

Am J Med Genet A. Author manuscript; available in PMC 2013 Sep 1.

Published in final edited form as: Am J Med Genet A. 2012 Sep; 158A(9): 2204–2213. Published online 2012 Aug 7. doi: 10.1002/ajmg.a.35532

PMCID:: PMC3429644

Abstract Article PDF–1.9M

Select item 338310612.

Dental Abnormalities in Schimke Immuno-osseous Dysplasia

M. Morimoto, O. Kérourédan, M. Gendronneau, C. Shuen, A. Baradaran-Heravi, Y. Asakura, M. Basiratnia, R. Bogdanović, D. Bonneau, A. Buck, J. Charrow, P. Cochat, K.A. DeHaai, M.S. Fenkçi, P. Frange, S. Fründ, H. Fryssira, K. Keller, S. Kirmani, C. Kobelka, K. Kohler, D.B. Lewis, L. Massella, D.R. McLeod, D.V. Milford, F. Nobili, A.H. Olney, C.N. Semerci, N. Stajić, A. Stein, S. Taque, J. Zonana, T. Lücke, G. Hendson, M. Bonnaure-Mallet, C.F. Boerkoel

J Dent Res. 2012 Jul; 91(7 Suppl): S29–S37. doi: 10.1177/0022034512450299

PMCID:: PMC3383106

Abstract Article PDF–3.4M

Select item 334942813.

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

Alireza Baradaran-Heravi, Kyoung Sang Cho, Bas Tolhuis, Mrinmoy Sanyal, Olena Morozova, Marie Morimoto, Leah I. Elizondo, Darren Bridgewater, Joanna Lubieniecka, Kimberly Beirnes, Clara Myung, Danny Leung, Hok Khim Fam, Kunho Choi, Yan Huang, Kira Y. Dionis, Jonathan Zonana, Kory Keller, Peter Stenzel, Christy Mayfield, Thomas Lücke, Arend Bokenkamp, Marco A. Marra, Maarten van Lohuizen, David B. Lewis, Chad Shaw, Cornelius F. Boerkoel

Hum Mol Genet. 2012 Jun 1; 21(11): 2572–2587. Published online 2012 Feb 28. doi: 10.1093/hmg/dds083

PMCID:: PMC3349428

Abstract Article PDF–797K

Select item 318406614.

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

Jakub Zieg, Anna Krepelova, Alireza Baradaran-Heravi, Elena Levtchenko, Encarna Guillén-Navarro, Miroslava Balascakova, Martina Sukova, Tomas Seeman, Jiri Dusek, Nadezda Simankova, Tomas Rosik, Sylva Skalova, Jan Lebl, Cornelius F Boerkoel

Pediatr Rheumatol Online J. 2011; 9: 27. Published online 2011 Sep 13. doi: 10.1186/1546-0096-9-27