SHOX Gene

Aliases
for SHOX gene

Previous GC identifers: GC0XP000427 GC0YU900006 GC0XP000527 GC0YP000555

Summaries
for SHOX gene

Genomic Views
for SHOX gene

RefSeq DNA sequence:

NC_000023.10  NC_000024.9  NC_018934.1  NT_167193.1  NT_167201.1  

SwitchGear Promoter luciferase reporter plasmid: SHOX promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SHOX

SHOX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP000585:  view genomic region     (about GC identifiers)

Proteins
for SHOX gene

Explore the universe of human proteins at neXtProt for SHOX: NX_O15266

Post-translational modifications:

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	Novus Biologicals SHOX Lysate
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	Uscn Proteins for SHOX

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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	Novus Biologicals SHOX Antibody
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	Uscn Antibodies for SHOX
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	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for SHOX
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for SHOX

Protein Domains /
Families
for SHOX gene

ProtoNet protein and cluster: O15266

Function
for SHOX gene

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SHOX
		8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate SHOX (see all 15):
		hsa-miR-92a hsa-miR-137 hsa-miR-196a* hsa-miR-374b hsa-miR-25 hsa-miR-367 hsa-miR-16-1* hsa-miR-374a
		SwitchGear 3'UTR luciferase reporter plasmid: SHOX 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SHOX OriGene shRNA RFP: SHOX OriGene siRNA: SHOX
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SHOX

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for SHOX

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SHOX (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SHOX (see all 2) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): SHOX (NM_000451)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SHOX
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SHOX

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SHOX
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHOX

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

Pathways & Interactions
for SHOX gene

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

Drugs & Compounds
for SHOX gene

Transcripts
for SHOX gene

Expression
for SHOX gene

SHOX expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AACCACTGCC

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SHOX Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse / rat SHOX
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SHOX
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SHOX

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHOX

Orthologs
for SHOX gene

Paralogs
for SHOX gene

Paralogs for SHOX gene

UNCX²  ENSG00000258518²  OTP²  SHOX2²  

6 SIMAP similar genes for SHOX using alignment to 4 protein entries:     SHOX_HUMAN (see all proteins):

SHOX2    HOXB1    NKX2-5    RAX2    DUX2    PRRX1

SHOX for paralogs           About GeneDecksing

Genomic Variants
for SHOX gene

Disorders / Diseases
for SHOX gene

20/30 diseases for SHOX

10/19 Novoseek disease relationships for SHOX gene (see all 19)    About this table

Publications
for SHOX gene

PubMed articles for SHOX gene, integrated from 9 sources (see all 150) (see top 10): (articles sorted by number of sources associating them with SHOX)

Utopia: connect your pdf to the dynamic world of online information

1. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. (PubMed id 9259282)^{1, 2, 3, 9} Ellison J.W....Chiong W. (1997)
2. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. (PubMed id 9140395)^{1, 2, 3, 9} Rao E.... Rappold G.A. (1997)
3. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. (PubMed id 11889216)^{1, 4, 9} Rappold G.A....Ogata T. (2002)
4. SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features. (PubMed id 11889214)^{1, 2, 9} Ogata T.... Hattori T. (2002)
5. Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. (PubMed id 11030412)^{1, 2, 9} Grigelioniene G.... Hagenaes L. (2000)
6. SHOX point mutations in dyschondrosteosis. (PubMed id 11403039)^{1, 2, 9} Huber C.... Cormier-Daire V. (2001)
7. Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome). (PubMed id 11891678)^{1, 2, 9} Cormier-Daire V.... Munnich A. (2001)
8. SHOX intragenic microsatellite analysis in patients with short stature. (PubMed id 11874178)^{1, 9} Ezquieta B....Gracia R. (2002)
9. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Leri-Weill dyschondrosteosis (LWD) probands. (PubMed id 16941489)^{1, 9} Benito-Sanz S....Heath K.E. (2006)
10. SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. (PubMed id 17201812)^{1, 9} Jorge A.A....Mendonca B.B. (2007)
11. A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. (PubMed id 16175500)^{1, 9} Benito-Sanz S....Heath K.E. (2005)
12. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. (PubMed id 17182655)^{1, 9} Rappold G....Niesler B. (2007)
13. BNP is a transcriptional target of the short stature homeobox gene SHOX. (PubMed id 17881654)^{1, 9} Marchini A....Rappold G. (2007)
14. Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein. (PubMed id 16325853)^{1, 9} Marchini A....Rappold G. (2006)
15. Enhancer elements upstream of the SHOX gene are activ e in the developing limb. (PubMed id 19997128)^{1, 9} Durand C....Rappold G. (2010)
16. High incidence of SHOX anomalies in individuals with short stature. (PubMed id 16597678)^{1, 9} Huber C....Cormier-Daire V. (2006)
17. SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome. (PubMed id 19016538)^{1, 9} Day G....Tomlinson F. (2009)
18. Imaging of SHOX-associated anomalies. (PubMed id 19724992)^{1, 9} Gahunia H.K....Mendoza-Londono R. (2009)
19. [Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment] (PubMed id 18797583)^{1, 9} Jorge A.A....Mendonca B.B. (2008)
20. Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Leri-Weill dyschondrosteosis. (PubMed id 18322641)^{1, 9} Fukami M....Ogata T. (2008)
21. Expression of SHOX in human fetal and childhood growth plate. (PubMed id 15292358)^{1, 9} Munns C.J....Batch J.A. (2004)
22. Familial growth and skeletal features associated with SHOX haploinsufficiency. (PubMed id 14513875)^{1, 9} Munns C.F....Batch J.A. (2003)
23. Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. (PubMed id 15931687)^{1, 9} Schneider K.U....Rappold G. (2005)
24. SHOX mutations in a family and a fetus with Langer mesomelic dwarfism. (PubMed id 15214013)^{1, 9} Thomas N.S....Castle B. (2004)
25. The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes. (PubMed id 15145945)^{1, 9} Marchini A....Rappold G.A. (2004)
26. Impairment of SHOX nuclear localization as a cause for Leri-Weill syndrome. (PubMed id 15173321)^{1, 9} Sabherwal N....Rappold G. (2004)
27. Deletion of the SHOX gene in patients with short stature of unknown cause. (PubMed id 12784295)^{1, 9} Morizio E....Palka G. (2003)
28. Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. (PubMed id 17200153)^{1, 9} Sabherwal N....Rappold G. (2007)
29. Short stature and dysmorphology associated with defects in the SHOX gene. (PubMed id 16807223)^{1, 9} Leka S.K....Kanavakis E. (2006)
30. Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens. (PubMed id 15118270)^{1, 9} Fukami M....Ogata T. (2004)
31. Enhancer deletions of the SHOX gene as a frequent cau se of short stature: the essential role of a 250 kb downstream regulatory domai n. (PubMed id 19578035)^{1, 9} Chen J....Rappold G. (2009)
32. Translocation (Y;22) resulting in the loss of SHOX and isolated short stature. (PubMed id 14981722)^{1, 9} Borie C....Eydoux P. (2004)
33. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. (PubMed id 17994562)^{1, 9} Bleyl S.B....Carey J.C. (2007)
34. Identification of a major recombination hotspot in patients with short stature and SHOX deficiency. (PubMed id 15931595)^{1, 9} Schneider K.U....Rappold G. (2005)
35. The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. (PubMed id 11751690)^{1, 9} Rao E....Rappold G.A. (2001)
36. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). (PubMed id 9590292)^{1, 9} Belin V....Cormier-Daire V. (1998)
37. Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature. (PubMed id 17911654)^{1, 9} Jorge A.A. and Arnhold I.J. (2007)
38. The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. (PubMed id 17935511)^{1, 9} Bertorelli R....Forabosco A. (2007)
39. Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. (PubMed id 16826534)^{1, 9} Benito-Sanz S....Heath K.E. (2006)
40. SHOX gene in Leri-Weill syndrome and in idiopathic short stature. (PubMed id 11716161)^{1, 9} Bernasconi S....Forabosco A. (2001)
41. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. (PubMed id 9590293)^{1, 9} Shears D.J....Winter R.M. (1998)
42. New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochond roplasia. (PubMed id 22903874)¹ Song S.H....Song H.R. (2012)
43. Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature. (PubMed id 22071895)¹ Benito-Sanz S....Heath K.E. (2012)
44. IGF1, IGF1R and SHOX mutation analysis in short childr en born small for gestational age and short children with normal birth size (idi opathic short stature). (PubMed id 22572840)¹ Caliebe J....Losekoot M. (2012)
45. SHOX gene defects and selected dysmorphic signs in pa tients of idiopathic short stature and LAcri-Weill dyschondrosteosis. (PubMed id 22020182)¹ Hirschfeldova K....Stekrova J. (2012)
46. Identification of the first recurrent PAR1 deletion in Leri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. (PubMed id 22791839)¹ Benito-Sanz S....Heath K.E. (2012)
47. Genotypes and phenotypes of children with SHOX deficie ncy in France. (PubMed id 22518848)¹ Rosilio M....Cormier-Daire V. (2012)
48. New roles of SHOX as regulator of target genes. (PubMed id 22946287)¹ Rappold G.A....Schneider K.U. (2012)
49. SHOX interacts with the chondrogenic transcription fa ctors SOX5 and SOX6 to activate the aggrecan enhancer. (PubMed id 21262861)¹ Aza-Carmona M....Heath K.E. (2011)
50. Identification of a Gypsy SHOX mutation (p.A170P) in L eri-Weill dyschondrosteosis and Langer mesomelic dysplasia. (PubMed id 21712857)¹ Barca-Tierno V....Heath K.E. (2011)
51. FGFR3 is a target of the homeobox transcription facto r SHOX in limb development. (PubMed id 21273290)¹ Decker E....Rappold G. (2011)
52. Clinical and radiological characteristics of 22 child ren with SHOX anomalies and familial short stature suggestive of LAcri-Weill Dys chondrosteosis. (PubMed id 21912078)¹ Salmon-Musial A.S....Nicolino M. (2011)
53. Evaluation of SHOX copy number variations in patients with MA1llerian aplasia. (PubMed id 21806840)¹ Sandbacka M....Laivuori H. (2011)
54. The role of the SHOX gene in the pathophysiology of T urner syndrome. (PubMed id 21925981)¹ Oliveira C.S. and Alves C. (2011)
55. The jumping SHOX gene--crossover in the pseudoautosom al region resulting in unusual inheritance of Leri-Weill dyschondrosteosis. (PubMed id 21068148)¹ Kant S.G....Breuning M.H. (2011)
56. Functional redundancy between human SHOX and mouse Sh ox2 genes in the regulation of sinoatrial node formation and pacemaking functio n. (PubMed id 21454626)¹ Liu H....Chen Y. (2011)
57. Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression. (PubMed id 21448463)¹ Durand C....Rappold G. (2011)
58. Clinical and molecular evaluation of SHOX/PAR1 duplic ations in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) . (PubMed id 21147883)¹ Benito-Sanz S....Heath K.E. (2011)
59. Short stature due to SHOX deficiency: genotype, pheno type, and therapy. (PubMed id 21325865)¹ Binder G. (2011)
60. Improved molecular diagnostics of idiopathic short st ature and allied disorders: quantitative polymerase chain reaction-based copy n umber profiling of SHOX and pseudoautosomal region 1. (PubMed id 20375215)¹ D'haene B....De Baere E. (2010)
61. Short stature caused by isolated SHOX gene haploinsuf ficiency: update on the diagnosis and treatment. (PubMed id 21150837)¹ Jorge A.A....Mendonca B.B. (2010)
62. Mosaic compound heterozygosity of SHOX resulting in L eri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. (PubMed id 20683993)¹ Reish O....Cormier-Daire V. (2010)
63. Identification of the first de novo PAR1 deletion dow nstream of SHOX in an individual diagnosed with LAcri-Weill dyschondrosteosis (L WD). (PubMed id 20412871)¹ Barroso E....Heath K.E. (2010)
64. SHOX duplications found in some cases with type I May er-Rokitansky-Kuster-Hauser syndrome. (PubMed id 20847698)¹ Gervasini C....Miozzo M. (2010)
65. Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome. (PubMed id 19188742)¹ Blum W.F....Binder G. (2009)
66. Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: double trouble in two adjacent genes. (PubMed id 18059093)¹ Messina M.F....De Luca F. (2008)
67. The DNA sequence of the human X chromosome. (PubMed id 15772651)² Ross M.T.... Bentley D.R. (2005)
68. Cardiovascular risk factors in Turner syndrome. (PubMed id 15529627)¹ Lichiardopol C. and Mota M. (2004)
69. Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX. (PubMed id 12960152)¹ Blaschke R.J....Rappold G.A. (2003)
70. Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. (PubMed id 12089524)¹ May C.A....Jeffreys A.J. (2002)
71. Complete SHOX deficiency causes Langer mesomelic dysplasia. (PubMed id 12116254)¹ Zinn A.R....Ross J.L. (2002)
72. FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. (PubMed id 9254856)¹ Rao E....Rappold G.A. (1997)
73. Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). (PubMed id 8558568)¹ Ogata T....Yokoya S. (1995)
74. X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies. (PubMed id 7815426)¹ Kuznetzova T....Vakharlovsky V. (1994)
75. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. (PubMed id 2602357)¹ Ballabio A....Fraccaro M. (1989)
76. The role of Yp in sex determination: new evidence from X/Y translocations. (PubMed id 6954848)¹ Zuffardi O....Perotti L. (1982)
77. SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity. (PubMed id 15356038)⁹ Binder G....Ranke M.B. (2004)
78. Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature. (PubMed id 14557470)⁹ Binder G....Martin D.D. (2003)
79. 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. (PubMed id 16904661)⁹ Tiecke E....Tickle C. (2006)
80. SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis. (PubMed id 10549307)⁹ Ogata T. (1999)
81. Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. (PubMed id 17091221)⁹ Gatta V....Stuppia L. (2007)
82. Phenotypes Associated with SHOX Deficiency. (PubMed id 11739418)⁹ Ross J.L....Zinn A.R. (2001)
83. Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone. (PubMed id 10634394)⁹ Binder G....Ranke M.B. (2000)
84. SHOX at a glance: from gene to protein. (PubMed id 17922307)⁹ Marchini A....Schneider K.U. (2007)
85. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. (PubMed id 10749976)⁹ Clement-Jones M....Rappold G.A. (2000)
86. Unexpected phenotype in a boy with trisomy of the SHO X gene. (PubMed id 20432819)⁹ Iughetti L....El Kholy M. (2010)
87. The human SHOX mutation database. (PubMed id 12402330)⁹ Niesler B....Rappold G.A. (2002)
88. Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity. (PubMed id 11735031)⁹ Grigelioniene G....Dumanski J.P. (2001)
89. Clinical and molecular characterization of duplicatio ns encompassing the human SHOX gene reveal a variable effect on stature. (PubMed id 19533800)⁹ Thomas N.S....Hastings R. (2009)
90. Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature. (PubMed id 17028440)⁹ Shanske A.L....Saenger P. (2007)
91. Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature. (PubMed id 11585080)⁹ Musebeck J....Stumm M. (2001)
92. SHOX haploinsufficiency and overdosage: impact of gonadal function status. (PubMed id 11134233)⁹ Ogata T....Nishimura G. (2001)
93. Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage. (PubMed id 19169482)⁹ Nishi M.Y....Mendonca B.B. (2008)
94. Cryptic intragenic deletion of the SHOX gene in a family with LAcri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA). (PubMed id 19169498)⁹ Funari M.F....Nishi M.Y. (2008)
95. The novel human SHOX allelic variant database. (PubMed id 17726696)⁹ Niesler B....Rappold G. (2007)
96. [From gene to disease; from SHOX to Leri-Weill dyschondrosteosis, Turner syndrome and idiopathic short stature] (PubMed id 11503314)⁹ Kant S.G. and Drop S.L. (2001)
97. Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. (PubMed id 11260213)⁹ Seidel J....Rappold G.A. (2001)
98. SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome. (PubMed id 10626546)⁹ Cormier-Daire V....Munnich A. (1999)
99. Effect of growth hormone therapy on severe short stat ure and skeletal deformities in a patient with combined Turner syndrome and Lan ger mesomelic dysplasia. (PubMed id 19850687)⁹ Shah B.C....Pappas J.G. (2009)
100. SNPS in the promoter regions of the canine RMRP and SHOX genes are not associated with canine chondrodysplasia. (PubMed id 18228171)⁹ Young A.E. and Bannasch D.L. (2008)
101. Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function. (PubMed id 14514349)⁹ Fukami M....Ogata T. (2003)
102. Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX. (PubMed id 11523902)⁹ Ogata T....Rappold G. (2001)
103. SHOX: growth, Leri-Weill and Turner syndromes. (PubMed id 10878753)⁹ Blaschke R.J. and Rappold G.A. (2000)
104. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. (PubMed id 10599728)⁹ Kosho T....Ogata T. (1999)
105. Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial. (PubMed id 17047016)⁹ Blum W.F....Rappold G. (2007)
106. The pseudoautosomal regions, SHOX and disease. (PubMed id 16650979)⁹ Blaschke R.J. and Rappold G. (2006)
107. The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. (PubMed id 16227037)⁹ Ross J.L....Zinn A.R. (2005)
108. Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency. (PubMed id 12153748)⁹ Ogata T....Ogawa M. (2002)
109. SHOX in short stature syndromes. (PubMed id 11408757)⁹ Blaschke R.J. and Rappold G.A. (2001)
110. Association of intrauterine growth retardation with monosomy of the terminal segment of the short arm of the X chromosome in patients with Turner's syndrome. (PubMed id 11093045)⁹ Yaegashi N....Yajima A. (2000)
111. Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. (PubMed id 10507731)⁹ Stuppia L....Palka G. (1999)
112. Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. (PubMed id 20425825)⁹ Ottesen A.M....Juul A. (2010)
113. Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure. (PubMed id 17981816)⁹ Tachdjian G....Christin-Maitre S. (2008)
114. Shox2 is required for chondrocyte proliferation and maturation in proximal limb skeleton. (PubMed id 17481601)⁹ Yu L....Chen Y. (2007)
115. Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. (PubMed id 15264287)⁹ Kwee M.L....Gille J.J. (2004)
116. Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. (PubMed id 12476453)⁹ Ross J.L....Zinn A.R. (2003)
117. A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family. (PubMed id 12673642)⁹ Karaman B....Basaran S. (2003)
118. An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female. (PubMed id 12439897)⁹ Shago M....Teshima I. (2002)
119. Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26). (PubMed id 11471178)⁹ Reinehr T....Andler W. (2001)
120. Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate. (PubMed id 11677662)⁹ Munns C.F....Vickers D. (2001)
121. Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome. (PubMed id 10713888)⁹ Schiller S....Rappold G.A. (2000)
122. Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. (PubMed id 10905666)⁹ Palka G....Calabrese G. (2000)
123. Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region. (PubMed id 19636220)⁹ Wasniewska M....De Luca F. (2010)
124. A duplication encompassing the SHOX gene and the down stream evolutionarily conserved sequences. (PubMed id 19938087)⁹ Roos L....TA1mer Z. (2009)
125. Two short children born small for gestational age wit h insulin-like growth factor 1 receptor haploinsufficiency illustrate the heter ogeneity of its phenotype. (PubMed id 19864454)⁹ Ester W.A....Losekoot M. (2009)
126. Leg length, proportion, health and beauty: a review. (PubMed id 20440962)⁹ Bogin B. and Varela-Silva M.I. (2009)
127. Zirconium oxide regulates RNA interfering of osteoblast-like cells. (PubMed id 18253813)⁹ Palmieri A....Carinci F. (2008)
128. [Low height and rare diseases] (PubMed id 18953371)⁹ Chueca Guindulain M....Oyarzabal M. (2008)
129. Two distinctive mechanisms leading to disruption of t he SHOX transcription unit in a single family. (PubMed id 17994568)⁹ Izumi K....Kosaki K. (2007)
130. The Human Pseudoautosomal Region (PAR): Origin, Function and Future. (PubMed id 18660847)⁹ Helena Mangs A. and Morris B.J. (2007)
131. First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation. (PubMed id 17497716)⁹ Dupont C....Dupont J.M. (2007)
132. A second recombination hotspot associated with SHOX d eletions. (PubMed id 16572514)⁹ Zinn A.R....Ross J.L. (2006)
133. Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy. (PubMed id 16832583)⁹ Alvarez-Vazquez P....Garcia-Mayor R.V. (2006)
134. Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion. (PubMed id 15309625)⁹ Kokalj-Vokac N....Gregoric A. (2004)
135. A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Leri-Weill dyschondrosteosis and Langer dysplasia. (PubMed id 15173249)⁹ Sabherwal N....Rappold G. (2004)
136. [Genetics and the SHOX gene] (PubMed id 15158831)⁹ Huber C. and Cormier-Daire V. (2004)
137. Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes. (PubMed id 14752208)⁹ Kanaka-Gantenbein C....Chrousos G. (2004)
138. SHOX mutations detected by FISH and direct sequencing in patients with short stature. (PubMed id 12566529)⁹ Stuppia L....Palka G. (2003)
139. Congenital conductive hearing loss in dyschondrosteosis. (PubMed id 12597288)⁹ De Leenheer E.M....Cremers C.W. (2003)
140. Genetic analysis of short stature. (PubMed id 14530602)⁹ Kant S.G....Breuning M.H. (2003)
141. A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD. (PubMed id 12955766)⁹ Boycott K.M....MacLeod P.M. (2003)
142. Evidence that postnatal growth retardation in XO mice is due to haploinsufficiency for a non-PAR X gene. (PubMed id 12900572)⁹ Burgoyne P.S....Turner J.M. (2002)
143. SHOX mutations. (PubMed id 12424438)⁹ Hintz R.L. (2002)
144. Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. (PubMed id 11807867)⁹ Cohen A....Camera G. (2002)
145. Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood. (PubMed id 12362035)⁹ Flanagan S.F....Glass I.A. (2002)
146. Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location. (PubMed id 11546827)⁹ Boucher C.A....Affara N.A. (2001)

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