SHOX haploinsufficiency as a cause of syndromic and nonsyndromic short stature

In vivo enhancer analysis of human conserved non-coding sequences

Pennacchio, L. A., Ahituv, N., Moses, A. M., Prabhakar, S., Nobrega, M. A., Shoukry, M., Minovitsky, S., Dubchak, I., Holt, A., Lewis, K. D., et al. (2006) · Nature · doi:10.1038/nature05295 · Cited by 1,165 · see citing works

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

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The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome

Clement-Jones, M. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.5.695 · Cited by 421 · see citing works

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

Belin, V., Cusin, V., Viot, G., Girlich, D., Toutain, A., Moncla, A., Vekemans, M. J. J., Merrer, M. F. L., Münnich, A., & Cormier‐Daire, V. (1998) · Nature Genetics · doi:10.1038/ng0198-67 · Cited by 347 · see citing works

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

Shears, D. J., Vassal, H., Goodman, F. R., Palmer, R. W., Reardon, W., Superti‐Furga, A., Scambler, P. J., & Winter, R. M. (1998) · Nature Genetics · doi:10.1038/ng0198-70 · Cited by 310 · see citing works

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

Rappold, G., Blum, W. F., Shavrikova, E. P., Crowe, B. J., Roeth, R., Quigley, C. A., ROSS, J. L., & Niesler, B. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.046581 · Cited by 257 · see citing works

Shox2 is essential for the differentiation of cardiac pacemaker cells by repressing Nkx2-5

Espinoza-Lewis, R. A., Yu, L., He, F.-L., Liu, H.-B., Tang, R.-H., Shi, J., Sun, X., Martin, J. F., Wang, D.-Z., Yang, J., et al. (2009) · Developmental Biology · doi:10.1016/j.ydbio.2008.12.028 · Cited by 240 · see citing works

Short Stature due to SHOX Deficiency: Genotype, Phenotype, and Therapy

Binder, G. (2011) · Hormone Research in Paediatrics · doi:10.1159/000324105 · Cited by 239 · see citing works

Deletions of the Homeobox Gene SHOX (Short Stature Homeobox) Are an Important Cause of Growth Failure in Children with Short Stature

Rappold, G., Fukami, M., Niesler, B., Schiller, S., Zumkeller, W., Bettendorf, M., Heinrich, U., Vlachopapadopoulou, E. A., Reinehr, T., Onigata, K., et al. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.3.8328 · Cited by 223 · see citing works

Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome

Kosho, T., Muroya, K., Nagai, T., Fujimoto, M., Yokoya, S., Sakamoto, H., Hirano, T., Terasaki, H., Ohashi, H., Nishimura, G., et al. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.12.6289 · Cited by 187 · see citing works

Madelung Deformity: Surgical Prophylaxis (Physiolysis) During the Late Growth Period by Resection of the Dyschondrosteosis Lesion

Vickers, D. W., & Nielsen, G. P. (1992) · Journal of Hand Surgery (European Volume) · doi:10.1016/s0266-7681(05)80262-1 · Cited by 173 · see citing works

High incidence of SHOX anomalies in individuals with short stature

Huber, C., Rosilio, M., Münnich, A., & Cormier‐Daire, V. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.040998 · Cited by 138 · see citing works

The pseudoautosomal regions, SHOX and disease

Blaschke, R. J., & Rappold, G. (2006) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2006.04.004 · Cited by 135 · see citing works

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

Benito‐Sanz, S., Thomas, N. S., Huber, C., del Blanco, D. G., Aza‐Carmona, M., Crolla, J. A., Maloney, V. K., Argente, J., Campos‐Barros, Á., Cormier‐Daire, V., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/449313 · Cited by 134 · see citing works

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

Chen, J., Wildhardt, G., Zhong, Z., Röth, R., Weiss, B., Steinberger, D., Decker, J., Blum, W. F., & Rappold, G. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.067785 · Cited by 133 · see citing works

SHOX haploinsufficiency and overdosage: impact of gonadal function status

Ogata, T., Matsuo, N., & Nishimura, G. (2001) · Journal of Medical Genetics · doi:10.1136/jmg.38.1.1 · Cited by 124 · see citing works

SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development

Blaschke, R. J., Monaghan, A. P., Schiller, S., Schechinger, B., Rao, E., Padilla‐Nash, H. M., Ried, T., & Rappold, G. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.5.2406 · Cited by 121 · see citing works

Homeobox genes and pattern formation in the vertebrate limb

Izpisúa‐Belmonte, J. C., & Duboule, D. (1992) · Developmental Biology · doi:10.1016/0012-1606(92)90153-8 · Cited by 113 · see citing works

SHOX mutations in idiopathic short stature and Leri‐Weill dyschondrosteosis: frequency and phenotypic variability

Jorge, A. A. L., Souza, S. C. A. L., Nishi, M. Y., Billerbeck, A. E. C., Libório, D. C. C., Kim, C. A., Arnhold, I. J. P., & Mendonca, B. B. (2006) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2006.02698.x · Cited by 109 · see citing works

Complete SHOX deficiency causes Langer mesomelic dysplasia

Zinn, A. R., Wei, F., Zhang, L., Elder, F. F. B., Scott, C. I., Marttila, P., & ROSS, J. L. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10422 · Cited by 106 · see citing works

Identification of Short Stature Caused by SHOX Defects and Therapeutic Effect of Recombinant Human Growth Hormone

Binder, G., Schwarze, C. P., & Ranke, M. B. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.85.1.6375 · Cited by 105 · see citing works

GH Treatment to Final Height Produces Similar Height Gains in Patients With SHOX Deficiency and Turner Syndrome: Results of a Multicenter Trial

Blum, W. F., ROSS, J. L., Zimmermann, A. G., Quigley, C. A., Child, C. J., Kalifa, G., Deal, C., Drop, S. L. S., Rappold, G., & Cutler, G. B. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-1222 · Cited by 104 · see citing works

Recombination in the Human Pseudoautosomal Region PAR1

Hinch, A. G., Altemose, N., Noor, N., Donnelly, P., & Myers, S. R. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004503 · Cited by 94 · see citing works

Volar Ligament Release and Distal Radius Dome Osteotomy for Correction of Madelung’s Deformity

Harley, B. J., BROWN, C. J. H., Cummings, K., Carter, P. R., & Ezaki, M. (2006) · The Journal Of Hand Surgery · doi:10.1016/j.jhsa.2006.07.012 · Cited by 79 · see citing works

Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

Benito‐Sanz, S., Barroso, E., Heine‐Suñer, D., Hisado-Oliva, A., Romanelli, V., Rosell, J., Aragonés, Á., Caimari, M., Argente, J., ROSS, J. L., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-1689 · Cited by 76 · see citing works

SHOXHaploinsufficiency and Leri-Weill Dyschondrosteosis: Prevalence and Growth Failure in Relation to Mutation, Sex, and Degree of Wrist Deformity

Binder, G., Renz, A., Martínez, A. S., Keselman, A. C., Hesse, V., Riedl, S., Haeusler, G., Fricke‐Otto, S., Frisch, H., Heinrich, J. J., et al. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-0591 · Cited by 75 · see citing works

HeterozygousNPR2Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

Hisado-Oliva, A., Garre-Vazquez, A. I., Santaolalla-Caballero, F., Belinchón, A., Bonis, A. C. B., Vasques, G. A., Ramirez, J., Luzuriaga, C., Carlone, G., Casado, I. G., et al. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-1612 · Cited by 73 · see citing works

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer

Benito‐Sanz, S., Royo, J. L., Barroso, E., Paumard‐Hernández, B., Bonis, A. C. B., Liu, P., Gracía, R., Lupski, J. R., Campos‐Barros, Á., Gómez-Skármeta, J. L., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100678 · Cited by 71 · see citing works

BNP is a transcriptional target of the short stature homeobox gene SHOX

Marchini, A., Häcker, B., Marttila, T., Hesse, V., Emons, J. A. M., Weiß, B., Karperien, M., & Rappold, G. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm266 · Cited by 71 · see citing works

Genotypes and Phenotypes of Children with SHOX Deficiency in France

Rosilio, M., Huber, C., Sapin, H., Carel, J., Blum, W. F., & Cormier‐Daire, V. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2011-3460 · Cited by 68 · see citing works

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

Fukami, M., Kato, F., Tajima, T., Yokoya, S., & Ogata, T. (2005) · The American Journal of Human Genetics · doi:10.1086/499254 · Cited by 64 · see citing works

Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood

Flanagan, S., Munns, C. F., Hayes, M., Williams, B., Berry, M., Vickers, D., Rao, E., Rappold, G. A., Batch, J., Hyland, V. J., et al. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.10.758 · Cited by 59 · see citing works

Shox2regulates progression through chondrogenesis in the mouse proximal limb

Bobick, B. E., & Cobb, J. A. (2012) · Journal of Cell Science · doi:10.1242/jcs.111997 · Cited by 59 · see citing works

FGFR3 is a target of the homeobox transcription factor SHOX in limb development

Decker, E., Durand, C., Bender, S., Rödelsperger, C., Glaser, A., Hecht, J., Schneider, K., & Rappold, G. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr030 · Cited by 56 · see citing works

Madelung Deformity: Clinical Features, Therapy and Results

Schmidt-Rohlfing, B., bel, B. S., Pauschert, R., & Niethard, F. U. (2001) · Journal of Pediatric Orthopaedics B · doi:10.1097/00009957-200110000-00015 · Cited by 55 · see citing works

Volar Ligament Release and Distal Radial Dome Osteotomy for the Correction of Madelung Deformity: Long-Term Follow-up

Steinman, S. E., Oishi, S. N., Mills, J. K., Bush, P. A., Wheeler, L. C., & Ezaki, M. (2013) · Journal of Bone and Joint Surgery · doi:10.2106/jbjs.l.00714 · Cited by 54 · see citing works

The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis

Malaquias, A. C., Scalco, R. C., Fontenele, E. G. P., Costalonga, E. F., Baldin, A. D., Braz, A. F., Funari, M. F. A., Nishi, M. Y., Guerra‐Júnior, G., Mendonca, B. B., et al. (2013) · Hormone Research in Paediatrics · doi:10.1159/000355411 · Cited by 54 · see citing works

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

Aza‐Carmona, M., Shears, D. J., Yuste‐Checa, P., Barca-Tierno, V., Hisado-Oliva, A., Belinchón, A., Benito‐Sanz, S., Rodrı́guez, J. I., Argente, J., Campos‐Barros, Á., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr032 · Cited by 53 · see citing works

Enhancer elements upstream of the SHOX gene are active in the developing limb

Durand, C., Bangs, F. K., Signolet, J., Decker, E., Tickle, C. A., & Rappold, G. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.216 · Cited by 51 · see citing works

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis

Hirschfeldová, K., Šolc, R., Baxová, A., Zapletalová, J., Kebrdlová, V., Gaillyová, R., Prášilová, Š., Šoukalová, J., Mihalová, R., Lněnička, P., et al. (2011) · Gene · doi:10.1016/j.gene.2011.10.011 · Cited by 50 · see citing works

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

Benito‐Sanz, S., Aza‐Carmona, M., Rodríguez-Estevez, A., Rica-Etxebarria, I., Gracía, R., Campos‐Barros, Á., & Heath, K. E. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.210 · Cited by 50 · see citing works

HISTOPATHOLOGICAL ANALYSIS OF LERI-WEILL DYSCHONDROSTEOSIS: DISORDERED GROWTH PLATE

Munns, C. F., Glass, I. A., Labrom, R. D., Hayes, M. T., Flanagan, S., Berry, M., Hyland, V. J., Batch, J., Philips, G., & Vickers, D. W. (2001) · Hand Surgery · doi:10.1142/s0218810401000424 · Cited by 49 · see citing works

Expression of the short stature homeobox gene Shox is restricted by proximal and distal signals in chick limb buds and affects the length of skeletal elements

Tiecke, E., Bangs, F. K., Blaschke, R., Farrell, E. R., Rappold, G., & Tickle, C. A. (2006) · Developmental Biology · doi:10.1016/j.ydbio.2006.07.008 · Cited by 48 · see citing works

PAR1 deletions downstream ofSHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands

Benito‐Sanz, S., del Blanco, D. G., Aza‐Carmona, M., Magano, L. F., Lapunzina, P. D., Argente, J., Campos‐Barros, Á., & Heath, K. E. (2006) · Human Mutation · doi:10.1002/humu.9456 · Cited by 47 · see citing works

Alternative Splicing and Nonsense-Mediated RNA Decay Contribute to the Regulation of SHOX Expression

Durand, C., Roeth, R., Dweep, H., Vlatkovic, I., Decker, E., Schneider, K., & Rappold, G. (2011) · PLoS ONE · doi:10.1371/journal.pone.0018115 · Cited by 45 · see citing works

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature

The Japanese SHOX study group, Fukami, M., Naiki, Y., Muroya, K., Hamajima, T., Soneda, S., Horikawa, R., Jinno, T., Katsumi, M., Nakamura, A., et al. (2015) · Journal of Human Genetics · doi:10.1038/jhg.2015.53 · Cited by 45 · see citing works

Identification of a Major Recombination Hotspot in Patients with Short Stature and SHOX Deficiency

Schneider, K., Sabherwal, N., Jantz, K., Röth, R., Muncke, N., Blum, W. F., Cutler, G. B., & Rappold, G. (2005) · The American Journal of Human Genetics · doi:10.1086/431655 · Cited by 44 · see citing works

Radiological Signs of Leri-Weill Dyschondrosteosis in Turner Syndrome

Binder, G., Fritsch, H., Schweizer, R., & Ranke, M. B. (2001) · Hormone Research in Paediatrics · doi:10.1159/000049973 · Cited by 42 · see citing works

Novel approaches to short stature therapy

Wit, J. M., & Oostdijk, W. (2015) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2015.01.003 · Cited by 41 · see citing works

Skeletal Deformity Associated with SHOX Deficiency

Seki, A., Jinno, T., Suzuki, E., Takayama, S., Ogata, T., & Fukami, M. (2014) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.23.65 · Cited by 37 · see citing works

The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects

Donze, S., Meijer-Boekel, C. R., Kant, S. G., Zandwijken, G. R. J., van der Hout, A. H., van Spaendonk, R. M. L., van den Ouweland, A. M. W., Wit, J. M., Losekoot, M., & Oostdijk, W. (2015) · European Journal of Endocrinology · doi:10.1530/eje-15-0451 · Cited by 37 · see citing works

Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius

Souček, O., Zapletalová, J., Zemková, D., Šnajderová, M., Novotná, D., Hirschfeldová, K., Plášilová, I., Koloušková, S., Roček, M., Hlávka, Z., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-1113 · Cited by 36 · see citing works

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation

Shears, D. J., Guillén‐Navarro, E., Sempere‐Miralles, M., Jiménez, R. D., Scambler, P. J., & Winter, R. M. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10421 · Cited by 36 · see citing works

Identification of Short Stature Caused by SHOX Defects and Therapeutic Effect of Recombinant Human Growth Hormone

Binder, G. (2000) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.85.1.245 · Cited by 36 · see citing works

Statural Growth in 31 Japanese Patients with SHOX Haploinsufficiency: Support for a Disadvantageous Effect of Gonadal Estrogens

Fukami, M., Nishi, Y., Hasegawa, Y., Miyoshi, Y., Okabe, T., Haga, N., Nagai, T., Tanaka, T., & Ogata, T. (2004) · Endocrine Journal · doi:10.1507/endocrj.51.197 · Cited by 35 · see citing works

Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay

Gatta, V., Antonucci, I., Morizio, E., Palka, C., Fischetto, R., Mokini, V., Tumini, S., Calabrese, G., & Stuppia, L. (2006) · Journal of Human Genetics · doi:10.1007/s10038-006-0074-5 · Cited by 34 · see citing works

Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Haploinsufficiency of SHOX.

Ogata, T., Onigata, K., Hotsubo, T., Matsuo, N., & Rappold, G. (2001) · Endocrine Journal · doi:10.1507/endocrj.48.317 · Cited by 34 · see citing works

SHOX triggers the lysosomal pathway of apoptosis via oxidative stress

Hristov, G., Marttila, T., Durand, C., Niesler, B., Rappold, G., & Marchini, A. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt552 · Cited by 34 · see citing works

Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect

Bunyan, D. J., Baker, K. R., Harvey, J. F., & Thomas, N. S. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35919 · Cited by 33 · see citing works

Usefulness of MLPA in the detection of SHOX deletions

Funari, M. F. A., Jorge, A. A. L., Souza, S. C. A. L., Billerbeck, A. E. C., Arnhold, I. J. P., Mendonca, B. B., & Nishi, M. Y. (2010) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.06.001 · Cited by 29 · see citing works

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

Kenyon, E. J., McEwen, G. K., Callaway, H., & Elgar, G. S. (2011) · PLoS ONE · doi:10.1371/journal.pone.0021498 · Cited by 29 · see citing works

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

Verdin, H., Fernández‐Miñán, A., Benito‐Sanz, S., Janssens, S., Callewaert, B. L., Waele, K. D., Schepper, J. D., François, I., Menten, B., Heath, K. E., et al. (2015) · Scientific Reports · doi:10.1038/srep17667 · Cited by 25 · see citing works

NPPB and ACAN, Two Novel SHOX2 Transcription Targets Implicated in Skeletal Development

Aza‐Carmona, M., Barca-Tierno, V., Hisado-Oliva, A., Belinchón, A., del Blanco, D. G., Rodrı́guez, J. I., Benito‐Sanz, S., Campos‐Barros, Á., & Heath, K. E. (2014) · PLoS ONE · doi:10.1371/journal.pone.0083104 · Cited by 23 · see citing works

Unexpected Phenotype in a Boy with Trisomy of the SHOX Gene

Iughetti, L., Capone, L., Elsedfy, H. H., Bertorelli, R., Predieri, B., Bruzzi, P., Forabosco, A., & Kholy, M. E. (2010) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2010.23.1-2.159 · Cited by 22 · see citing works

SHOX gene and conserved noncoding element deletions/duplications in C olombian patients with idiopathic short stature

Vinasco‐Sandoval, T., Jaimes, G. C., Mauricio Coll, B., Céspedes, C., & Velasco, H. M. (2013) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.39 · Cited by 22 · see citing works

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect

Bunyan, D. J., Taylor, E., Maloney, V. K., & Blyth, M. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36724 · Cited by 21 · see citing works

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis

Fukami, M., Dateki, S., Kato, F., Hasegawa, Y., Mochizuki, H., Horikawa, R., & Ogata, T. (2008) · Journal of Human Genetics · doi:10.1007/s10038-008-0269-z · Cited by 20 · see citing works

Mice lacking the transcription factor SHOX2 display impaired cerebellar development and deficits in motor coordination

Rosin, J. M., McAllister, B. B., Dyck, R. H., Percival, C. J., Kurrasch, D. M., & Cobb, J. A. (2014) · Developmental Biology · doi:10.1016/j.ydbio.2014.12.013 · Cited by 20 · see citing works

The Jumping SHOX Gene—Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis

Kant, S. G., van der Kamp, H. J., Kriek, M., Bakker, E., Bakker, B., Hoffer, M. J. V., van Bunderen, P. A., Losekoot, M., Maas, S. M., Wit, J. M., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2010-1505 · Cited by 17 · see citing works

The novel humanSHOX allelic variant database

Niesler, B., Röth, R., Wilke, S., Fujimura, F. K., Fischer, C., & Rappold, G. (2007) · Human Mutation · doi:10.1002/humu.20542 · Cited by 16 · see citing works

Identification of Novel SHOX Target Genes in the Developing Limb Using a Transgenic Mouse Model

Beiser, K. U., Glaser, A., Kleinschmidt, K., Scholl, I., Röth, R., Li, L., Gretz, N., Mechtersheimer, G., Karperien, M., Marchini, A., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0098543 · Cited by 16 · see citing works

Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency

Ogata, T., Inokuchi, M., & Ogawa, M. (2002) · European Journal of Endocrinology · doi:10.1530/eje.0.1470249 · Cited by 16 · see citing works

Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function

Fukami, M., Matsuo, N., Hasegawa, T., Sato, S., & Ogata, T. (2003) · European Journal of Endocrinology · doi:10.1530/eje.0.1490337 · Cited by 14 · see citing works

A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects

Helena Poggi, M., Vera-Leiva, A., Avalos, C., Marcela Lagos, L., Mellado, C., Aracena, M., Aravena, T., García, H., Godoy, C., Cattani, A., et al. (2015) · Hormone Research in Paediatrics · doi:10.1159/000439109 · Cited by 9 · see citing works

The Homeobox Transcription Factor HOXA9 Is a Regulator of SHOX in U2OS Cells and Chicken Micromass Cultures

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Turner syndrome: mechanisms and management

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Turner Syndrome and the Thyroid Function—A Systematic and Critical Review

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Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes

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Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness

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ARTRITE CRÔNICA E BAIXA ESTATURA EM CRIANÇA COM MUTAÇÃO SHOX

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Growth Hormone Therapy in Children with Turner Syndrome, Noonan Syndrome, and SHOX Gene Mutations

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Cytogenomic Profiling of Chronic Lymphocytic Leukaemia Patients Using DNA Microarray

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Oral Hormone Replacement Therapy and Uterine Volume in Korean Adolescents with Turner Syndrome: A Retrospective Case-Control Study

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Isodicentric Y Chromosome with Multiple Breakpoints in the Pseudoautosomal Region 1

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Growth Hormone Therapy in Children with Turner Syndrome, Noonan Syndrome, and SHOX Gene Mutations

Gutmark‐Little, I., Muthuvel, G., & Backeljauw, P. F. (2024) · Springer eBooks · doi:10.1007/978-3-031-66296-6_6

Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa

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The Impact of Nutrition, Genetics, Environment, and Common Issues on Adolescent Growth and Development

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Clinical features and growth harmone response in 25 children with duplications in the SHOX region

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Severe Early‐Onset Fetal Growth Restriction: The Yield of Antenatal and Postnatal Genetic Testing

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Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the “Jumping SHOX” phenomenon

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Cytogenetic, genomic, and reproductive characterization of four Pura Raza Española Mares carrying a 64, X, del(X), t(X; Y) complex karyotype

Arjona-Delgado, M. Y., Pirosanto, Y., Raudsepp, T., Vargas-Pérez, M. Á., Valera, M., Encina, A., Azor, P., Bugno‐Poniewierska, M., & Demyda-Peyrás, S. (2026) · Journal of Animal Science · doi:10.1093/jas/skag185

Clinical analysis of prenatal diagnosis, ultrasound findings, and follow-up in 92 Turner mosaic fetuses: a retrospective analysis of 12-year experience

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One-Year Italian Experience with Off-Label rhGH Treatment in SHOX-Deficient Children to Overcome the Shortage of Authorized rhGH Somatropin

Guazzarotti, L., Faienza, M. F., Gallo, F., Gaudino, R., Maggio, M. C., Mozzato, C., Pozzobon, G. C., Salerno, M., Wasniewska, M. G., & Cappa, M. (2026) · Endocrines · doi:10.3390/endocrines7030033

Influence of X-Chromosome Inactivation in Pathogenesis of Turner Syndrome

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Langer mesomelic dysplasia as a rare manifestation of SHOX deficiency: a narrative review

Piwar, H., Pawłasek, J., Sielaff, P., Sztachelska, M., & Ordak, M. (2026) · Frontiers in Genetics · doi:10.3389/fgene.2026.1876732

The role of the SHOX gene in the development of short stature: an overview of clinical and molecular evaluation

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Baixa estatura por haploinsuficiência do gene SHOX: do diagnóstico ao tratamento

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SHOX haploinsufficiency: lessons from clinical studies

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Short Stature Homeobox-Containing (SHOX) Gene Deficiency: Genetics and Growth Response to Growth Hormone Treatment in Comparison with Turner Syndrome

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Growth hormone therapy in patients with short stature homeobox-gene (SHOX) deficiency.

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