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Select item 66948391.

Highly Efficient Generation of Pigs Harboring a Partial Deletion of the CD163 SRCR5 Domain, Which Are Fully Resistant to Porcine Reproductive and Respiratory Syndrome Virus 2 Infection

Chunhe Guo, Min Wang, Zhenbang Zhu, Sheng He, Hongbo Liu, Xiaofeng Liu, Xuan Shi, Tao Tang, Piao Yu, Jianhua Zeng, Linfang Yang, Yongchang Cao, Yaosheng Chen, Xiaohong Liu, Zuyong He

Front Immunol. 2019; 10: 1846. Published online 2019 Aug 8. doi: 10.3389/fimmu.2019.01846

PMCID:: PMC6694839

Abstract Article PDF–4.6M

Select item 64611332.

Fibrillin microfibrils and elastic fibre proteins: Functional interactions and extracellular regulation of growth factors

Jennifer Thomson, Mukti Singh, Alexander Eckersley, Stuart A. Cain, Michael J. Sherratt, Clair Baldock

Semin Cell Dev Biol. 2019 May; 89: 109–117. doi: 10.1016/j.semcdb.2018.07.016

PMCID:: PMC6461133

Abstract Article

Select item 65087383.

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

Dov Tiosano, Hagit N. Baris, Anlu Chen, Marrit M. Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G. Gleeson, Patrick Rump, Hester van Meer, Deborah A. Sival, Volker Haucke, Josh Kriwinsky, Karl X. Knaup, André Reis, Nadine N. Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T. Thiel, Michael S. Wiesener, Mariam G. Aslanyan, David A. Buchner

PLoS Genet. 2019 Apr; 15(4): e1008088. Published online 2019 Apr 29. doi: 10.1371/journal.pgen.1008088

PMCID:: PMC6508738

Abstract Article PDF–2.3M

Select item 65337914.

Genetic and Pharmacological Targeting of Transcriptional Repression in Resistance to Thyroid Hormone Alpha

Bernard Freudenthal, Samiksha Shetty, Natalie C. Butterfield, John G. Logan, Cho Rong Han, Xuguang Zhu, Inna Astapova, Anthony N. Hollenberg, Sheue-Yann Cheng, J.H. Duncan Bassett, Graham R. Williams

Thyroid. 2019 May 1; 29(5): 726–734. Published online 2019 May 13. doi: 10.1089/thy.2018.0399

PMCID:: PMC6533791

Abstract Article PDF–8.7M

Select item 65360425.

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report

Diana Ramirez-Montaño, Harry Pachajoa

Colomb Med (Cali) 2019 Jan-Mar; 50(1): 40–45. Published online 2019 Mar 30. doi: 10.25100/cm.v50i1.3555

PMCID:: PMC6536042

Abstract Article PDF–519K

Select item 65570006.

Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages

Marian Seda, Emma Peskett, Charalambos Demetriou, Dale Bryant, Gudrun E. Moore, Philip Stanier, Dagan Jenkins

Version 1. F1000Res. 2019; 8: 273. Published online 2019 Mar 11. doi: 10.12688/f1000research.17314.1

PMCID:: PMC6557000

Abstract Article PDF–2.2M

Select item 65655527.

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4

Gerarda Cappuccio, Raffaella Brunetti‐Pierri, Annalaura Torella, Michele Pinelli, Raffaele Castello, Giorgio Casari, Vincenzo Nigro, Sandro Banfi, Francesca Simonelli, TUDP, Nicola Brunetti‐Pierri

Mol Genet Genomic Med. 2019 Jun; 7(6): e682. Published online 2019 Apr 11. doi: 10.1002/mgg3.682

PMCID:: PMC6565552

Abstract Article PDF–406K

Select item 65655798.

Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans

Karen Rymer, Rita Shiang, Anting Hsiung, Arti Pandya, Tim Bigdeli, Bradley T. Webb, Jennifer Rhodes

Mol Genet Genomic Med. 2019 Jun; 7(6): e656. Published online 2019 Apr 23. doi: 10.1002/mgg3.656

PMCID:: PMC6565579

Abstract Article PDF–569K

Select item 65704019.

A phase II study of omacetaxine mepesuccinate for patients with higher-risk myelodysplastic syndrome and chronic myelomonocytic leukemia after failure of hypomethylating agents

Nicholas J. Short, Elias Jabbour, Kiran Naqvi, Ami Patel, Jing Ning, Koji Sasaki, Graciela M. Nogueras-Gonzalez, Prithviraj Bose, Steven M. Kornblau, Koichi Takahashi, Michael Andreeff, Gabriela Sanchez-Petitto, Zeev Estrov, Courtney D. Dinardo, Guillermo Montalban-Bravo, Marina Konopleva, Yesid Alvarado, Kapil N. Bhalla, Warren Fiskus, Maria Khouri, Rubiul Islam, Hagop Kantarjian, Guillermo Garcia-Manero

Am J Hematol. Author manuscript; available in PMC 2020 Jan 1.

Published in final edited form as: Am J Hematol. 2019 Jan; 94(1): 74–79. Published online 2018 Nov 15. doi: 10.1002/ajh.25318

PMCID:: PMC6570401

Abstract Article PDF–348K

Select item 657084710.

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

Shujie Zhang, Shaoke Chen, Haisong Qin, Haiming Yuan, Yalei Pi, Yu Yang, Hui Huang, Guimei Li, Yan Sun, Zhihua Wang, Huamei Ma, Xiaoling Fu, Ting Zhou, Jian Wang, Huifeng Zhang, Yiping Shen

Orphanet J Rare Dis. 2019; 14: 144. Published online 2019 Jun 14. doi: 10.1186/s13023-019-1111-8

PMCID:: PMC6570847

Abstract Article PDF–5.3M

Select item 659489811.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

Elizabeth J. Bhoj, Damien Haye, Annick Toutain, Dominique Bonneau, Irene Kibæk Nielsen, Ida Bay Lund, Pauline Bogaard, Stine Leenskjold, Kadri Karaer, Katherine T Wild, Katheryn L Grand, Mirena C. Astiazaran, Luis A. Gonzalez-Nieto, Ana Carvalho, Daphné Lehalle, Shivarajan M Amudhavalli, Elena Repnikova, Carol Saunders, Isabelle Thiffault, Irfan Saadi, Dong Li, Hakon Hakonarson, Yoann Vial, Elaine Zackai, Patrick Callier, Séverine Drunat, Alain Verloes

Eur J Med Genet. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Eur J Med Genet. 2019 Dec; 62(12): 103588. Published online 2018 Nov 22. doi: 10.1016/j.ejmg.2018.11.022

PMCID:: PMC6594898

Abstract Article PDF–506K

Select item 660797112.

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action

Helen L Storr, Sumana Chatterjee, Louise A Metherell, Corinne Foley, Ron G Rosenfeld, Philippe F Backeljauw, Andrew Dauber, Martin O Savage, Vivian Hwa

Endocr Rev. 2019 Apr; 40(2): 476–505. Published online 2018 Sep 27. doi: 10.1210/er.2018-00146

PMCID:: PMC6607971

Abstract Article

Select item 661263913.

Transient introduction of human telomerase mRNA improves hallmarks of progeria cells

Yanhui Li, Gang Zhou, Ivone G. Bruno, Ning Zhang, Sei Sho, Enzo Tedone, Tsung‐Po Lai, John P. Cooke, Jerry W. Shay

Aging Cell. 2019 Aug; 18(4): e12979. Published online 2019 May 31. doi: 10.1111/acel.12979

PMCID:: PMC6612639

Abstract Article PDF–1.2M

Select item 665404714.

Cardiovascular anomalies in children and young adults with Ullrich‐Turner syndrome—the erlangen experience

Thomas M. K. Völkl, Karin Degenhardt, Andreas Koch, Diemud Simm, Helmuth G. Dörr, Professor Helmut Singer

Clin Cardiol. 2005 Feb; 28(2): 88–92. Published online 2006 Dec 5. doi: 10.1002/clc.4960280209

PMCID:: PMC6654047

Summary PDF–42K

Select item 667589115.

A CRISPR Activation Screen Identifies Genes That Protect against Zika Virus Infection

Anna Dukhovny, Kevin Lamkiewicz, Qian Chen, Markus Fricke, Nabila Jabrane-Ferrat, Manja Marz, Jae U. Jung, Ella H. Sklan

J Virol. 2019 Aug 15; 93(16): e00211-19. Prepublished online 2019 May 29. Published online 2019 Jul 30. doi: 10.1128/JVI.00211-19

PMCID:: PMC6675891

Abstract Article PDF–2.4M

Select item 668887316.

The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors

Geoffrey J Maher, Marie Bernkopf, Nils Koelling, Andrew O M Wilkie, Marvin L Meistrich, Anne Goriely

Hum Reprod. 2019 Aug; 34(8): 1404–1415. Published online 2019 Jul 26. doi: 10.1093/humrep/dez090

PMCID:: PMC6688873

Abstract Article PDF–7.4M

Select item 645172817.

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Illja J. Diets, Roos van der Donk, Kristina Baltrunaite, Esmé Waanders, Margot R.F. Reijnders, Alexander J.M. Dingemans, Rolph Pfundt, Anneke T. Vulto-van Silfhout, Laurens Wiel, Christian Gilissen, Julien Thevenon, Laurence Perrin, Alexandra Afenjar, Caroline Nava, Boris Keren, Sarah Bartz, Bethany Peri, Gea Beunders, Nienke Verbeek, Koen van Gassen, Isabelle Thiffault, Maxime Cadieux-Dion, Lina Huerta-Saenz, Matias Wagner, Vassiliki Konstantopoulou, Julia Vodopiutz, Matthias Griese, Annekatrien Boel, Bert Callewaert, Han G. Brunner, Tjitske Kleefstra, Nicoline Hoogerbrugge, Bert B.A. de Vries, Vivian Hwa, Andrew Dauber, Jayne Y. Hehir-Kwa, Roland P. Kuiper, Marjolijn C.J. Jongmans

Am J Hum Genet. 2019 Apr 4; 104(4): 758–766. Published online 2019 Mar 28. doi: 10.1016/j.ajhg.2019.02.023

PMCID:: PMC6451728

Abstract Article PDF–1.4M

Select item 670053318.

Mandibulofacial dysostosis with microcephaly: a syndrome to remember

Joana Brandão Silva, Diana Soares, Miguel Leão, Helena Santos

BMJ Case Rep. 2019; 12(8): e229831. Published online 2019 Aug 13. doi: 10.1136/bcr-2019-229831

PMCID:: PMC6700533

Abstract Article PDF–266K

Select item 672059619.

Duodenal atresia with familial apple peel syndrome: case study with review of literature

Jyotsna M Kirtane, Snehal A Bhange, Fazal Nabi, Varshil Shah

BMJ Case Rep. 2019; 12(8): e230160. Published online 2019 Aug 26. doi: 10.1136/bcr-2019-230160

PMCID:: PMC6720596

Abstract Article PDF–814K

Select item 673064820.

Genotype-Phenotype Associations in Fanconi Anemia: A Literature Review

Moisés O. Fiesco-Roa, Neelam Giri, Lisa J. McReynolds, Ana F. Best, Blanche P. Alter

Blood Rev. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Blood Rev. 2019 Sep; 37: 100589. Published online 2019 Jul 16. doi: 10.1016/j.blre.2019.100589

PMCID:: PMC6730648

Abstract Article PDF–1005K

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