PMC Links for Gene (Select 108383234) - PMC

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Items: 10

Select item 42362481.

Copy Number Variants in Short Children Born Small for Gestational Age

Jan M. Wit, Hermine A. van Duyvenvoorde, Jan B. van Klinken, Janina Caliebe, Cathy A.J. Bosch, Julian C. Lui, Antoinet C.J. Gijsbers, Egbert Bakker, Martijn H. Breuning, Wilma Oostdijk, Monique Losekoot, Jeffrey Baron, Gerhard Binder, Michael B. Ranke, Claudia A.L. Ruivenkamp

Horm Res Paediatr. Author manuscript; available in PMC 2015 Oct 8.

Published in final edited form as: Horm Res Paediatr. 2014; 82(5): 310–318. Published online 2014 Oct 8. doi: 10.1159/000367712

PMCID:: PMC4236248

Abstract Article PDF–225K

Select item 13802162.

Transactivation Function of an ∼800-bp Evolutionarily Conserved Sequence at the SHOX 3′ Region: Implication for the Downstream Enhancer

Maki Fukami, Fumiko Kato, Toshihiro Tajima, Susumu Yokoya, Tsutomu Ogata

Am J Hum Genet. 2006 Jan; 78(1): 167–170. doi: 10.1086/499254

PMCID:: PMC1380216

Article PDF–386K

Select item 41128333.

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region

Valentina Gatta, Chiara Palka, Valentina Chiavaroli, Sara Franchi, Giovanni Cannataro, Massimo Savastano, Antonio Raffaele Cotroneo, Francesco Chiarelli, Angelika Mohn, Liborio Stuppia

BMC Med Genet. 2014; 15: 87. Published online 2014 Jul 23. doi: 10.1186/1471-2350-15-87

PMCID:: PMC4112833

Abstract Article PDF–2.1M

Select item 46683794.

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Hannah Verdin, Ana Fernández-Miñán, Sara Benito-Sanz, Sandra Janssens, Bert Callewaert, Kathleen De Waele, Jean De Schepper, Inge François, Björn Menten, Karen E. Heath, José Luis Gómez-Skarmeta, Elfride De Baere

Sci Rep. 2015; 5: 17667. Published online 2015 Dec 3. doi: 10.1038/srep17667

PMCID:: PMC4668379

Abstract Article PDF–1.0M

Select item 41255985.

Skeletal Deformity Associated with SHOX Deficiency

Atsuhito Seki, Tomoko Jinno, Erina Suzuki, Shinichiro Takayama, Tsutomu Ogata, Maki Fukami

Clin Pediatr Endocrinol. 2014 Jul; 23(3): 65–72. Published online 2014 Aug 6. doi: 10.1297/cpe.23.65

PMCID:: PMC4125598

Abstract Article PDF–1.1M

Select item 36290366.

Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region

Sarina G. Kant, Sander J. Broekman, Caroline C. de Wit, Marloes Bos, Sitha A. Scheltinga, Egbert Bakker, Wilma Oostdijk, Hetty J. van der Kamp, Erik W. van Zwet, Annemieke H. van der Hout, Jan M. Wit, Monique Losekoot

Peerj. 2013; 1: e35. Published online 2013 Feb 19. doi: 10.7717/peerj.35

PMCID:: PMC3629036

Abstract Article PDF–1.2M

Select item 31233447.

Functional Analysis of Conserved Non-Coding Regions Around the Short Stature hox Gene (shox) in Whole Zebrafish Embryos

Emma J. Kenyon, Gayle K. McEwen, Heather Callaway, Greg Elgar

PLoS One. 2011; 6(6): e21498. Published online 2011 Jun 24. doi: 10.1371/journal.pone.0021498

PMCID:: PMC3123344

Abstract Article PDF–4.6M

Select item 27787648.

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

J Chen, G Wildhardt, Z Zhong, R Röth, B Weiss, D Steinberger, J Decker, W F Blum, G Rappold

J Med Genet. 2009 Dec; 46(12): 834–839. Published online 2009 Jul 2. doi: 10.1136/jmg.2009.067785

PMCID:: PMC2778764

Abstract Article PDF–1.7M

Select item 12756039.

A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis

Sara Benito-Sanz, N. Simon Thomas, Céline Huber, Darya Gorbenko del Blanco, Miriam Aza-Carmona, John A. Crolla, Vivienne Maloney, Jesús Argente, Ángel Campos-Barros, Valérie Cormier-Daire, Karen E. Heath

Am J Hum Genet. 2005 Oct; 77(4): 533–544. Published online 2005 Aug 15. doi: 10.1086/449313