Publications (Selected)

1. Aza-Carmona M, Shears DJ, Yuste-Checa P, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Benito-Sanz S, Rodríguez JI, Argente J, Campos-Barros A, Scambler PJ, Heath KE. SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer. Hum Mol Genet. 2011; 20(8):1547-59.
2. Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE. Clinical and molecular evaluation of SHOX/PAR1 duplications in Léri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). J Clin Endocrinol & Metab: 2010; 96(2):E404-12.
3. Benito-Sanz S, Aragones A, Gracia R, Campos-Barros A, Heath KE. A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX. Am J Med Genet: Am J Med Genet A. 2011 Mar 17. doi: 10.1002/ajmg.a.33872. [Epub ahead of print].
4. Aza-Carmona M, Barreda-Bonis AC, Guerrero-Fernández J, González-Casado I, Gracia R, Heath KE. Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations. J Ped Clin Endocrinol: in press.
5. Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, del Campo M, Lapunzina P. CDKN1C (p57Kip2) Analysis in Beckwith-Wiedemann syndrome (BWS) Patients: Genotype-phenotype Correlations, Novel Mutations, and Polymorphisms. Am J Med Genet: 2010; 152A(6):1390-7.
6. Barroso E, Benito-Sanz S, Belinchón A, Yuste-Checa P, Gracia R, Aragones A, Campos-Barros A, Heath KE.Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dischondrosteosis (LWD). Eur J Med Genet 2010: 53(4): 204-207.
7. Heath KE, Barros E, Gracia R. Bases moleculares de la Enfermedad suprarrenal y aplicación. Rev Horm Crecim, Numero monográfico “Avances en Endocrinología I” 2009;XII(2):67-84
8. Romanelli V, Belinchón A, Campos-Barros A, Heath KE, García-Miñaur S, Martínez-Glez V, Palomo R, Mercado G, Gracia R, Lapunzina P. CDKN1C Mutations in HELLP/Preeclamptic Mothers of Beckwith–Wiedemann Syndrome (BWS) Patients. Placenta 2009; 30(6): 551- 554.
9. Heath KE, Diaz F, Martos GA, Argente J, Campos-Barros A. Primary IGF-1 deficiency due to IGFALS mutations define a new form of postnatal growth deficit associated to low circulating IGF-I, IGFBP-3, ALS and hyperinsulinemia. J Clin Endocrinol & Metab 2008; 93:1616-1624.
10. Campos-Barros A, Benito-Sanz S, Ross JL, Zinn AR, Heath KE. Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD). Am J Med Genet: 2007: 143A:933-938.
11. Benito-Sanz S, Gorbenko del Blanco D, Aza-Carmona M, Magano LF, Lapunzina P, Argente J, Campos-Barros A, Heath KE. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Leri-Weill dyschondrosteosis (LWD) probands. Hum Mutat 2006; 27: 1062.
12. Benito-Sanz S, Gorbenko del Blanco D, Huber C, Thomas NS, Aza-Carmona M, Bunyan D, Maloney V, Argente J, Cormier-Daire V, Campos-Barros A, Heath KE. Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. Am J Hum Genet 2006; 79: 409-14.
13. Benito-Sanz S, Thomas NT, Huber C, Gorbenko del Blanco D, Aza-Carmona M, Crolla JA, Maloney V, Argente J, Campos-Barros A, Cormier-Daire V, Heath KE. A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet 2005; 77: 533-44.
14. Heath KE, Fernandez-Sanchez ME, Criado-Garcia, Garcia-Fojeda B, Medrano-Fernandez I, Gomez-Garre P, Sanz P, Serratosa JM, Rodriguez de Cordoba S. Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. Hum Mol Genet 2003; 12: 3161-71.
15. Toren, A, Rozenfeld-Granot G, Heath KE, Amariglio N, Rocca B, Crosson J, Epstein CJ, Laghi F, Landolfi R, Carlson LE, Argraves S, Brok-Simon F, Martignetti JA, Greinacher A, Rechavi G. The possibility of di-allelic inactivation of fibulin-1 by antisense RNA in the MYHIIA syndrome. Am J Hematol 2003; 74: 254-62.
16. Narla N, Heath KE, Reeves HL, Li D, Giono LE, Kimmelman AC, Glucksman MJ, Narla J, Eng FJ, Chan AM, Ferrari A, Martignetti JA, Friedman SL. KLF6 is a candidate tumor suppressor gene mutated in prostate cancer. Science 2001; 294 (5551): 2563-6.
17. Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, Greinacher A, Epstein CJ, Glucksman MJ, Martignetti JA. Nonmuscle myosin heavy chain IIA (MYHIIA) mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, Fechtner, Sebastian, Epstein and Alport-like syndromes. Am J Hum Genet 2001; 69: 1033-1045.
18. Heath KE, Humphries SE, Middleton-Price H, Boxer M. A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom. Eur J Hum Genet 2001; 9: 244-52.
19. Heath KE, Gahan M, Whittall RA, Humphries SE. Low-density lipoprotein receptor gene (LDLR) worldwide website in familial hypercholesterolaemia: update, new features and mutation analysis. Atherosclerosis. 2001; 154: 243-246.
20. Heath KE, Whittall RA, Miller, GJ, Humphries SE. I705 variant in the low-density -lipoprotein receptor gene has no effect on plasma cholesterol. J Med Genet 2000; 37: 713-15.

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Last Updated: August, 2012.

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