PMC Articles for MedGen (Select 1679527) - PMC

Select item 54646791.

Candidate genes on murine chromosome 8 are associated with susceptibility to Staphylococcus aureus infection in mice and are involved with Staphylococcus aureus septicemia in humans

Qin Yan, Sun Hee Ahn, Felix Mba Medie, Batu K. Sharma-Kuinkel, Lawrence P. Park, William K. Scott, Hitesh Deshmukh, Ephraim L. Tsalik, Derek D. Cyr, Christopher W. Woods, Chen-Hsin Albert Yu, Carlton Adams, Robert Qi, Brenda Hansen, Vance G. Fowler, Jr

PLoS One. 2017; 12(6): e0179033. Published online 2017 Jun 8. doi: 10.1371/journal.pone.0179033

PMCID:: PMC5464679

Abstract Article PDF–7.6M

Select item 36978342.

A major QTL on chromosome 11 influences psychostimulant and opioid sensitivity in mice

Camron D. Bryant, Hsien P. Chang, Jin Zhang, Tim Wiltshire, Lisa M. Tarantino, Abraham A. Palmer

Genes Brain Behav. Author manuscript; available in PMC 2013 Jul 1.

Published in final edited form as: Genes Brain Behav. 2009 Nov; 8(8): 795–805. Published online 2009 Jul 21. doi: 10.1111/j.1601-183X.2009.00525.x

PMCID:: PMC3697834

Abstract Article PDF–915K

Select item 16020873.

Complex Genetic Architecture Revealed by Analysis of High-Density Lipoprotein Cholesterol in Chromosome Substitution Strains and F₂ Crosses

Ioannis M. Stylianou, Shirng-Wern Tsaih, Keith DiPetrillo, Naoki Ishimori, Renhua Li, Beverly Paigen, Gary Churchill

Genetics. 2006 Oct; 174(2): 999–1007. doi: 10.1534/genetics.106.059717

PMCID:: PMC1602087

Abstract Article PDF–1.0M

Select item 112179534.

Syndrome Coffin-Siris et anomalies bucco-dentaires : une nouvelle observation

Afaf Houb-Dine, Hammouti Jalila, Fatima Zaoui, Asmae Benkaddour

Tunis Med. 2023 Apr; 101(4): 456–459. French. Publication en ligne 2023 avr. 5.

PMCID:: PMC11217953

Abstract Article PDF–546K

Select item 99954935.

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

Raymond Belanger Deloge, Xiaonan Zhao, Pamela N. Luna, Chad A. Shaw, Jill A. Rosenfeld, Daryl A. Scott

Eur J Hum Genet. 2023 Mar; 31(3): 296–303. Published online 2022 Dec 6. doi: 10.1038/s41431-022-01255-y

PMCID:: PMC9995493

Abstract Article PDF–710K

Select item 93785776.

Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia

Yoel Gofin, Xiaonan Zhao, Amanda Gerard, Fernando Scaglia, Michael F. Wangler, Samantha A. Schrier Vergano, Daryl A. Scott

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Am J Med Genet A. 2022 Sep; 188(9): 2718–2723. Published online 2022 Jul 7. doi: 10.1002/ajmg.a.62889

PMCID:: PMC9378577

Abstract Article PDF–229K

Select item 93785447.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen

Genet Med. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Genet Med. 2022 Aug; 24(8): 1753–1760. Published online 2022 May 18. doi: 10.1016/j.gim.2022.04.010

Correction in:: Genet Med. 2023 Feb; 25(2): 100004.

PMCID:: PMC9378544

Abstract Article PDF–129K

Select item 88955778.

Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of Fallot

Hairui Sun, Siyao Zhang, Jingyi Wang, Xiaoxue Zhou, Hongjia Zhang, Huixia Yang, Yihua He

BMC Med Genomics. 2022; 15: 40. Published online 2022 Mar 3. doi: 10.1186/s12920-022-01185-0

PMCID:: PMC8895577

Abstract Article PDF–919K

Select item 85551299.

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

Yena Lee, Yunha Choi, Go Hun Seo, Gu-Hwan Kim, Changwon Keum, Yoo-Mi Kim, Hyo-Sang Do, Jeongmin Choi, In Hee Choi, Han-Wook Yoo, Beom Hee Lee

BMC Med Genomics. 2021; 14: 254. Published online 2021 Oct 27. doi: 10.1186/s12920-021-01104-9

PMCID:: PMC8555129

Abstract Article PDF–767K

Select item 839324110.

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

Pleuntje J. van der Sluijs, Mariëlle Alders, Alexander J. M. Dingemans, Kareesma Parbhoo, Bregje W. van Bon, Jennifer C. Dempsey, Dan Doherty, Johan T. den Dunnen, Erica H. Gerkes, Ilana M. Milller, Stephanie Moortgat, Debra S. Regier, Claudia A. L. Ruivenkamp, Betsy Schmalz, Thomas Smol, Kyra E. Stuurman, Catherine Vincent-Delorme, Bert B. A. de Vries, Bekim Sadikovic, Scott E. Hickey, Jill A. Rosenfeld, Isabelle Maystadt, Gijs W. E. Santen

Genes (Basel) 2021 Aug; 12(8): 1275. Published online 2021 Aug 20. doi: 10.3390/genes12081275

PMCID:: PMC8393241

Abstract Article PDF–602K

Select item 632360811.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martínez, Alfonso Caro-Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan-Khetarpal, Desai Sonal, Naidu Sakkubai, Julien Thevenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer M. Tarpinian, Jill A. Rosenfeld, Brendan H. Lee, Undiagnosed Diseases Network, Philippe M. Campeau

Am J Hum Genet. 2019 Jan 3; 104(1): 164–178. Published online 2018 Dec 20. doi: 10.1016/j.ajhg.2018.11.007

PMCID:: PMC6323608

Abstract Article PDF–1.8M

Select item 605797012.

Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis

Till Holsten, Susanne Bens, Florian Oyen, Karolina Nemes, Martin Hasselblatt, Uwe Kordes, Reiner Siebert, Michael C. Frühwald, Reinhard Schneppenheim, Ulrich Schüller

Eur J Hum Genet. 2018 Aug; 26(8): 1083–1093. Published online 2018 Apr 30. doi: 10.1038/s41431-018-0143-1

PMCID:: PMC6057970

Abstract Article PDF–1.2M

Select item 587086813.

SMARCE1, a Rare Cause of Coffin–Siris Syndrome: Clinical Description of Three Additional Cases

Yuri A. Zarate, Elizabeth Bhoj, Julie Kaylor, Dong Li, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Shubha Phadke, Luis Escobar, Afifa Irani, Hakon Hakonarson, Samantha A. Schrier Vergano

Am J Med Genet A. Author manuscript; available in PMC 2018 Mar 27.

Published in final edited form as: Am J Med Genet A. 2016 Aug; 170(8): 1967–1973. Published online 2016 Jun 5. doi: 10.1002/ajmg.a.37722

PMCID:: PMC5870868

Abstract Article PDF–878K

Select item 553741514.

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto

J Hum Genet. 2017 Aug; 62(8): 741–746. Published online 2017 Mar 2. doi: 10.1038/jhg.2017.24

PMCID:: PMC5537415

Abstract Article PDF–769K

Select item 340261215.

The Coffin-Siris syndrome: A Proposed Diagnostic Approach and Assessment of 15 Overlapping Cases

Samantha A. Schrier, Joann N. Bodurtha, Barbara Burton, Albert E. Chudley, Mary Anne D. Chiong, Maria Gabriella D’avanzo, Sally Ann Lynch, Antonio Musio, Dmitriy M. Nyazov, Pedro A. Sanchez-Lara, Stavit A. Shalev, Matthew A. Deardorff

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

Published in final edited form as: Am J Med Genet A. 2012 Aug; 158A(8): 1865–1876. Published online 2012 Jun 18. doi: 10.1002/ajmg.a.35415

PMCID:: PMC3402612

Abstract Article PDF–599K

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