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Discondrosteosis de Leri-Weill. Mutación en gen SHOX y expresividad variable = Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutationLLANO-RIVAS, I; FERNANDEZ-TORAL, J; NAVARRO-VERA, I et al.Anales de pediatria (2003. Ed. impresa). 2011, Vol 74, Num 6, pp 405-408, issn 1695-4033, 4 p.Article

A Case of Agonadism Associated With Y-Chromosome Rearrangement: Cytogenetic and Molecular StudiesCUI, Ying-Xia; SHI, Yi-Chao; HUANG, Yu-Feng et al.Journal of andrology. 2009, Vol 30, Num 6, pp 650-654, issn 0196-3635, 5 p.Article

SHOX mutations in idiopathic short stature and leri-weill dyschondrosteosis : frequency and phenotypic variabilityJORGE, Alexander A. L; SOUZA, Silvia C; NISHI, Miriam Y et al.Clinical endocrinology (Oxford. Print). 2007, Vol 66, Num 1, pp 130-135, issn 0300-0664, 6 p.Article

Expression of SHOX in human fetal and childhood growth plateMUNNS, C. J. F; HAASE, H. R; CROWTHER, L. M et al.The Journal of clinical endocrinology and metabolism. 2004, Vol 89, Num 8, pp 4130-4135, issn 0021-972X, 6 p.Article

GENETIC EVALUATION OF AN INFERTILE MALE WITH A RING Y CHROMOSOME AND SHOX DELETIONZAMANI, A. G; TUNCEZ, E; YILDIRIM, M. S et al.Genetic counseling. 2013, Vol 24, Num 4, pp 449-454, issn 1015-8146, 6 p.Article

SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: Prevalence and growth failure in relation to mutation, sex, and degree of wrist deformityBINDER, Gerhard; RENZ, Alexandra; RANKE, Michael B et al.The Journal of clinical endocrinology and metabolism. 2004, Vol 89, Num 9, pp 4403-4408, issn 0021-972X, 6 p.Article

Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1D'HAENE, Barbara; HELLEMANS, Jan; SEGERS, Karin et al.The Journal of clinical endocrinology and metabolism. 2010, Vol 95, Num 6, pp 3010-3018, issn 0021-972X, 9 p.Article

The phenotype of short stature homeobox gene (SHOX) deficiency in childhood : Contrasting children with leri-weill dyschondrosteosis and turner syndromeROSS, Judith L; KOWAL, Karen; QUIGLEY, Charmian A et al.The Journal of pediatrics. 2005, Vol 147, Num 4, pp 499-507, issn 0022-3476, 9 p.Article

Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX DeficiencySCALCO, Renata C; MELO, Suzana S. J; PUGLIESE-PIRES, Patricia N et al.The Journal of clinical endocrinology and metabolism. 2010, Vol 95, Num 1, pp 328-332, issn 0021-972X, 5 p.Article

Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failureTACHDJIAN, Gérard; ABOURA, Azzedine; PORTNOÏ, Marie-France et al.Human reproduction (Oxford. Print). 2008, Vol 23, Num 1, pp 222-226, issn 0268-1161, 5 p.Article

Wrist anomalies in Turner syndrome compared with Leri-Weill dyschondrosteosis: a new feature in Turner syndromeTAUBER, Maithé; LOUNIS, Nadia; COULET, Julien et al.European journal of pediatrics. 2004, Vol 163, Num 8, pp 475-481, issn 0340-6199, 7 p.Article