PMC Links for Books (Select 1498160) - PMC

Select item 73247891.

A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

Romy van de Putte, Gabriel C. Dworschak, Erwin Brosens, Heiko M. Reutter, Carlo L. M. Marcelis, Rocio Acuna-Hidalgo, Nehir E. Kurtas, Marloes Steehouwer, Sally L. Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Anna Morandi, Maria F. Bedeschi, Michael D. Bates, Marc A. Levitt, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Iris A. L. M. van Rooij, Alexander Hoischen

Front Pediatr. 2020; 8: 310. Published online 2020 Jun 23. doi: 10.3389/fped.2020.00310

PMCID:: PMC7324789

Article PDF–233K

Select item 64605732.

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

Clémence Vanlerberghe, Anne-Sophie Jourdain, Jamal Ghoumid, Frédéric Frenois, Aurélie Mezel, Guy Vaksmann, Bruno Lenne, Bruno Delobel, Nicole Porchet, Valérie Cormier-Daire, Thomas Smol, Fabienne Escande, Sylvie Manouvrier-Hanu, Florence Petit

Eur J Hum Genet. 2019 Mar; 27(3): 360–368. Published online 2018 Dec 14. doi: 10.1038/s41431-018-0303-3

PMCID:: PMC6460573

Article PDF–992K

Select item 47319253.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 37812144.

Oncofetal Gene SALL4 in Aggressive Hepatocellular Carcinoma

Kol Jia Yong, Chong Gao, Joline S.J. Lim, Benedict Yan, Henry Yang, Todor Dimitrov, Akira Kawasaki, Chee Wee Ong, Kwong-Fai Wong, Sanghoon Lee, Sharada Ravikumar, Supriya Srivastava, Xi Tian, Ronnie T. Poon, Sheung Tat Fan, John M. Luk, Yock Young Dan, Manuel Salto-Tellez, Li Chai, Daniel G. Tenen

N Engl J Med. Author manuscript; available in PMC 2013 Dec 13.

Published in final edited form as: N Engl J Med. 2013 Jun 13; 368(24): 2266–2276. doi: 10.1056/NEJMoa1300297

PMCID:: PMC3781214

Article PDF–4.4M

Select item 35789565.

Targeting transcription factor SALL4 in acute myeloid leukemia by interrupting its interaction with an epigenetic complex

Chong Gao, Todor Dimitrov, Kol Jia Yong, Hiro Tatetsu, Ha-won Jeong, Hongbo R. Luo, James E. Bradner, Daniel G. Tenen, Li Chai

Blood. 2013 Feb 21; 121(8): 1413–1421. Prepublished online 2013 Jan 3. doi: 10.1182/blood-2012-04-424275

PMCID:: PMC3578956

Article

Select item 30797176.

SALL4, a Stem Cell Factor, Affects the Side Population by Regulation of the ATP-Binding Cassette Drug Transport Genes

Ha-Won Jeong, Wei Cui, Youyang Yang, Jiayun Lu, Jie He, Ailing Li, David Song, Ye Guo, Bee H. Liu, Li Chai

PLoS One. 2011; 6(4): e18372. Published online 2011 Apr 19. doi: 10.1371/journal.pone.0018372

PMCID:: PMC3079717

Article PDF–769K

Select item 24815377.

SALL4 is a key regulator of survival and apoptosis in human leukemic cells

Jianchang Yang, Li Chai, Chong Gao, Taylor C. Fowles, Zaida Alipio, Hien Dang, Dan Xu, Louis M. Fink, David C. Ward, Yupo Ma

Blood. 2008 Aug 1; 112(3): 805–813. Prepublished online 2008 May 16. doi: 10.1182/blood-2007-11-126326

Correction in:: Blood. 2009 Oct 1; 114(14): 3131.

PMCID:: PMC2481537

Article

Select item 17358888.

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

W Borozdin, D Boehm, M Leipoldt, C Wilhelm, W Reardon, J Clayton-Smith, K Becker, H Muhlendyck, R Winter, O Giray, F Silan, J Kohlhase

J Med Genet. 2004 Sep; 41(9): e113. doi: 10.1136/jmg.2004.019901

PMCID:: PMC1735888

Summary PDF–418K

Select item 17358769.

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

W Borozdin, M Wright, R Hennekam, M Hannibal, Y Crow, T Neumann, J Kohlhase

J Med Genet. 2004 Aug; 41(8): e102. doi: 10.1136/jmg.2004.019505

PMCID:: PMC1735876

Summary PDF–209K

Select item 173552810.

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

J Kohlhase, L Schubert, M Liebers, A Rauch, K Becker, S Mohammed, R Newbury-Ecob, W Reardon

J Med Genet. 2003 Jul; 40(7): 473–478. doi: 10.1136/jmg.40.7.473

PMCID:: PMC1735528

Summary PDF–542K

Select item 38509611.

Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family

Raidah Al-Baradie, Koki Yamada, Cynthia St. Hilaire, Wai-Man Chan, Caroline Andrews, Nathalie McIntosh, Motoi Nakano, E. Jean Martonyi, William R. Raymond, Sada Okumura, Michael M. Okihiro, Elizabeth C. Engle

Am J Hum Genet. 2002 Nov; 71(5): 1195–1199. Published online 2002 Oct 22. doi: 10.1086/343821

PMCID:: PMC385096

Article PDF–417K

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