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Items: 1 to 20 of 22

1.
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature
Antonino Montalbano, Lonny Juergensen, Maki Fukami, Christian T Thiel, Nadine H Hauer, Ralph Roeth, Birgit Weiss, Yasuhiro Naiki, Tsutomu Ogata, David Hassel, Gudrun A. Rappold
Eur J Hum Genet. 2018 Aug; 26(8): 1113–1120. Published online 2018 Apr 30. doi: 10.1038/s41431-018-0148-9
PMCID:
PMC6057989
AbstractArticlePDF–688K
2.
SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester
Shwetha Ramachandrappa, Abhijit Kulkarni, Hina Gandhi, Cheryl Ellis, Renata Hutt, Lesley Roberts, Rosol Hamid, Aris Papageorghiou, Sahar Mansour
Eur J Hum Genet. 2018 Mar; 26(3): 350–358. Published online 2018 Jan 12. doi: 10.1038/s41431-017-0080-4
PMCID:
PMC5839025
AbstractArticlePDF–728K
3.
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency
Antonino Montalbano, Lonny Juergensen, Ralph Roeth, Birgit Weiss, Maki Fukami, Susanne Fricke‐Otto, Gerhard Binder, Tsutomu Ogata, Eva Decker, Gudrun Nuernberg, David Hassel, Gudrun A Rappold
EMBO Mol Med. 2016 Dec; 8(12): 1455–1469. Published online 2016 Nov 14. doi: 10.15252/emmm.201606623
PMCID:
PMC5167135
AbstractArticlePDF–3.2M
4.
A Track Record on SHOX: From Basic Research to Complex Models and Therapy
Antonio Marchini, Tsutomu Ogata, Gudrun A. Rappold
Endocr Rev. 2016 Aug; 37(4): 417–448. Published online 2016 Jun 29. doi: 10.1210/er.2016-1036
PMCID:
PMC4971310
AbstractArticle
5.
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
AbstractArticlePDF–960K
6.
Identification of Novel SHOX Target Genes in the Developing Limb Using a Transgenic Mouse Model
Katja U. Beiser, Anne Glaser, Kerstin Kleinschmidt, Isabell Scholl, Ralph Röth, Li Li, Norbert Gretz, Gunhild Mechtersheimer, Marcel Karperien, Antonio Marchini, Wiltrud Richter, Gudrun A. Rappold
PLoS One. 2014; 9(6): e98543. Published online 2014 Jun 2. doi: 10.1371/journal.pone.0098543
PMCID:
PMC4041798
AbstractArticlePDF–9.8M
7.
Copy number variants in patients with short stature
Hermine A van Duyvenvoorde, Julian C Lui, Sarina G Kant, Wilma Oostdijk, Antoinet CJ Gijsbers, Mariëtte JV Hoffer, Marcel Karperien, Marie JE Walenkamp, Cees Noordam, Paul G Voorhoeve, Verónica Mericq, Alberto M Pereira, Hedi L Claahsen-van de Grinten, Sandy A van Gool, Martijn H Breuning, Monique Losekoot, Jeffrey Baron, Claudia AL Ruivenkamp, Jan M Wit
Eur J Hum Genet. 2014 May; 22(5): 602–609. Published online 2013 Sep 25. doi: 10.1038/ejhg.2013.203
PMCID:
PMC3992565
AbstractArticlePDF–382K
8.
SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature
Gloria Tatiana Vinasco Sandoval, Giovanna Carola Jaimes, Mauricio Coll Barrios, Camila Cespedes, Harvy Mauricio Velasco
Mol Genet Genomic Med. 2014 Mar; 2(2): 95–102. Published online 2013 Oct 14. doi: 10.1002/mgg3.39
PMCID:
PMC3960050
AbstractArticlePDF–714K
9.
Alternative Splicing and Nonsense-Mediated RNA Decay Contribute to the Regulation of SHOX Expression
Claudia Durand, Ralph Roeth, Harsh Dweep, Irena Vlatkovic, Eva Decker, Katja Ute Schneider, Gudrun Rappold
PLoS One. 2011; 6(3): e18115. Published online 2011 Mar 23. doi: 10.1371/journal.pone.0018115
PMCID:
PMC3063249
AbstractArticlePDF–1.4M
10.
Enhancer elements upstream of the SHOX gene are active in the developing limb
Claudia Durand, Fiona Bangs, Jason Signolet, Eva Decker, Cheryll Tickle, Gudrun Rappold
Eur J Hum Genet. 2010 May; 18(5): 527–532. Published online 2009 Dec 9. doi: 10.1038/ejhg.2009.216
PMCID:
PMC2987325
AbstractArticlePDF–569K
11.
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
AbstractArticlePDF–1.7M
12.
Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency
Gudrun Rappold, Werner F Blum, Elena P Shavrikova, Brenda J Crowe, Ralph Roeth, Charmian A Quigley, Judith L Ross, Beate Niesler
J Med Genet. 2007 May; 44(5): 306–313. Published online 2006 Dec 20. doi: 10.1136/jmg.2006.046581
PMCID:
PMC2597980
AbstractArticlePDF–168K
13.
Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature
Alexander A L Jorge, Ivo J P Arnhold
J Med Genet. 2007 Oct; 44(10): e90.
PMCID:
PMC2597966
ArticlePDF–86K
14.
High incidence of SHOX anomalies in individuals with short stature
C Huber, M Rosilio, A Munnich, V Cormier‐Daire
J Med Genet. 2006 Sep; 43(9): 735–739. Published online 2006 Apr 5. doi: 10.1136/jmg.2006.040998
PMCID:
PMC2564573
AbstractArticlePDF–152K
15.
A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia
N Sabherwal, R Blaschke, A Marchini, D Heine-Suner, J Rosell, J Ferragut, W Blum, G Rappold
J Med Genet. 2004 Jun; 41(6): e83. doi: 10.1136/jmg.2003.016402
PMCID:
PMC1735821
SummaryPDF–576K
16.
SHOX mutations detected by FISH and direct sequencing in patients with short stature
L Stuppia, G Calabrese, V Gatta, S Pintor, E Morizio, D Fantasia, F Guanciali, M Rinaldi, G Scarano, D Concolino, A Giannotti, F Petreschi, M Anzellotti, M Pomilio, F Chiarelli, S Tumini, G Palka
J Med Genet. 2003 Feb; 40(2): e11. doi: 10.1136/jmg.40.2.e11
PMCID:
PMC1735371
SummaryPDF–132K
17.
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood
S Flanagan, C Munns, M Hayes, B Williams, M Berry, D Vickers, E Rao, G Rappold, J Batch, V Hyland, I Glass
J Med Genet. 2002 Oct; 39(10): 758–763. doi: 10.1136/jmg.39.10.758
PMCID:
PMC1734979
SummaryPDF–229K
18.
Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots
Sara Benito-Sanz, Darya Gorbenko del Blanco, Céline Huber, N. Simon Thomas, Miriam Aza-Carmona, David Bunyan, Vivienne Maloney, Jesús Argente, Valérie Cormier-Daire, Ángel Campos-Barros, Karen E. Heath
Am J Hum Genet. 2006 Aug; 79(2): 409–414. doi: 10.1086/506390
PMCID:
PMC1559488
ArticlePDF–1.9M
19.
MADELUNG'S DEFORMITY
Joseph I. Anton, George B. Reitz, Milton B. Spiegel
Ann Surg. 1938 Sep; 108(3): 411–439. doi: 10.1097/00000658-193809000-00006
PMCID:
PMC1386983
SummaryPage BrowsePDF–6.6M
20.
Identification of a Major Recombination Hotspot in Patients with Short Stature and SHOX Deficiency
Katja U.  Schneider, Nitin  Sabherwal, Karin  Jantz, Ralph  Röth, Nadja  Muncke, Werner F.  Blum, Gordon B.  Cutler, Jr., Gudrun  Rappold
Am J Hum Genet. 2005 Jul; 77(1): 89–96. Published online 2005 Jun 1. doi: 10.1086/431655
PMCID:
PMC1226197
AbstractArticlePDF–1.4M

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