Sara Benito-Sanz
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Explore the profile of Sara Benito-Sanz including associated specialties, affiliations and a list of published articles.
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27
Citations
407
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Recent Articles
11.
Verdin H, Fernandez-Minan A, Benito-Sanz S, Janssens S, Callewaert B, De Waele K, et al.
Sci Rep
. 2015 Dec;
5:17667.
PMID: 26631348
Genetic defects such as copy number variations (CNVs) in non-coding regions containing conserved non-coding elements (CNEs) outside the transcription unit of their target gene, can underlie genetic disease. An example...
12.
Hisado-Oliva A, Garre-Vazquez A, Santaolalla-Caballero F, Belinchon A, Barreda-Bonis A, Vasques G, et al.
J Clin Endocrinol Metab
. 2015 Jun;
100(8):E1133-42.
PMID: 26075495
Context: SHOX mutations have been detected in approximately 70% of Léri-Weill dyschondrosteosis (LWD) and approximately 2.5% of idiopathic short stature (ISS) cases, suggesting the implication of other genes or loci....
13.
Barroso E, Berges-Soria J, Benito-Sanz S, Ivan Rivera-Pedroza C, Ballesta-Martinez M, Lopez-Gonzalez V, et al.
Am J Med Genet A
. 2015 Feb;
167A(4):902-6.
PMID: 25692887
No abstract available.
14.
Paumard-Hernandez B, Berges-Soria J, Barroso E, Rivera-Pedroza C, Perez-Carrizosa V, Benito-Sanz S, et al.
Eur J Hum Genet
. 2014 Oct;
23(7):907-14.
PMID: 25271085
Craniosynostosis, caused by the premature fusion of one or more of the cranial sutures, can be classified into non-syndromic or syndromic and by which sutures are affected. Clinical assignment is...
15.
Tenorio J, Mansilla A, Valencia M, Martinez-Glez V, Romanelli V, Arias P, et al.
Hum Mutat
. 2014 Sep;
35(12):1436-41.
PMID: 25196541
Overgrowth syndromes (OGS) are a group of disorders in which all parameters of growth and physical development are above the mean for age and sex. We evaluated a series of...
16.
Aza-Carmona M, Barca-Tierno V, Hisado-Oliva A, Belinchon A, Gorbenko-del Blanco D, Rodriguez J, et al.
PLoS One
. 2014 Jan;
9(1):e83104.
PMID: 24421874
SHOX and SHOX2 transcription factors are highly homologous, with even identical homeodomains. Genetic alterations in SHOX result in two skeletal dysplasias; Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD), while...
17.
Benito-Sanz S, Royo J, Barroso E, Paumard-Hernandez B, Barreda-Bonis A, Liu P, et al.
J Med Genet
. 2012 Jul;
49(7):442-50.
PMID: 22791839
Background: SHOX, located in the pseudoautosomal region 1 (PAR1) of the sexual chromosomes, encodes a transcription factor implicated in human growth. Defects in SHOX or its enhancers have been observed...
18.
Albuisson J, Schmitt S, Baron S, Bezieau S, Benito-Sanz S, Heath K
Eur J Hum Genet
. 2012 Apr;
20(8).
PMID: 22510850
No abstract available.
19.
Benito-Sanz S, Aza-Carmona M, Rodriguez-Estevez A, Rica-Etxebarria I, Gracia R, Campos-Barros A, et al.
Eur J Hum Genet
. 2011 Nov;
20(1):125-7.
PMID: 22071895
Short stature homeobox-containing gene, MIM 312865 (SHOX) is located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. Mutations in SHOX or its downstream transcriptional regulatory elements represent the...
20.
Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, et al.
Eur J Hum Genet
. 2011 Jun;
19(12):1218-25.
PMID: 21712857
We report the clinical and molecular characteristics of 12 Spanish families with multiple members affected with Léri-Weill dyschondrosteosis (LWD) or Langer mesomelic dysplasia (LMD), who present the SHOX (short stature...