| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1049254745 |
| P356 | DOI | 10.1038/NG0198-67 |
| P3181 | OpenCitations bibliographic resource ID | 4725237 |
| P698 | PubMed publication ID | 9590292 |
| P5875 | ResearchGate publication ID | 13694415 |
| P50 | author | Arnold Munnich | Q2863363 |
| Annick Toutain | Q30170329 | ||
| P2093 | author name string | M Le Merrer | |
| V Cormier-Daire | |||
| M Vekemans | |||
| D Girlich | |||
| G Viot | |||
| A Moncla | |||
| V Belin | |||
| V Cusin | |||
| P2860 | cites work | PHOG, a candidate gene for involvement in the short stature of Turner syndrome | Q24323155 |
| Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome | Q24601013 | ||
| A comprehensive genetic map of the human genome based on 5,264 microsatellites | Q27860812 | ||
| Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome | Q28237330 | ||
| Chromosomal localisation of a pseudoautosomal growth gene(s) | Q33594421 | ||
| A metric map of humans: 23,500 loci in 850 bands | Q37052100 | ||
| Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and son. | Q52105515 | ||
| Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity? | Q54573247 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | skeletal system development | Q14860466 |
| short stature homeobox | Q2206154 | ||
| P304 | page(s) | 67-9 | |
| P577 | publication date | 1998-05-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) | |
| P478 | volume | 19 |
| Q36215774 | A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene |
| Q37147401 | A Track Record on SHOX: From Basic Research to Complex Models and Therapy |
| Q36310168 | A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome |
| Q34144208 | A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31 |
| Q57828227 | A man who inherited hisSRY gene and Leri-Weill dyschondrosteosis from his mother and neurofibromatosis type 1 from his father |
| Q24536310 | A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis |
| Q43223094 | A second recombination hotspot associated with SHOX deletions |
| Q34758559 | Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. |
| Q28206815 | Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome) |
| Q61058447 | Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis |
| Q34713071 | Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression |
| Q56909676 | An illustrative case of Léri-Weill dyschondrosteosis |
| Q57632574 | Baixa estatura por haploinsuficiência do gene SHOX: do diagnóstico ao tratamento |
| Q57632741 | Bases Genéticas dos Distúrbios de Crescimento |
| Q73647208 | Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation |
| Q34401434 | Cardiovascular anomalies in children and young adults with Ullrich-Turner syndrome the Erlangen experience. |
| Q34528116 | Clinical and genetic heterogeneity of Seckel syndrome. |
| Q28181842 | Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome |
| Q57828223 | CompleteSHOX deficiency causes Langer mesomelic dysplasia |
| Q50484692 | Congenital conductive hearing loss in dyschondrosteosis. |
| Q40807249 | Cytogenetic and molecular characterization of two isodicentric Y chromosomes |
| Q35777495 | De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. |
| Q38503746 | Diagnosis of Lung Cancer by SHOX2 Gene Methylation Assay |
| Q37732802 | Different skeletal phenotypes in a mother and two daughters with short stature homeobox-containing haploinsufficiency. |
| Q51895423 | Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. |
| Q34239768 | Differential DNA methylation as a tool for noninvasive prenatal diagnosis (NIPD) of X chromosome aneuploidies |
| Q58493312 | Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature |
| Q37424584 | Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain |
| Q41736356 | Enhancer elements upstream of the SHOX gene are active in the developing limb |
| Q35173572 | Evaluation of SHOX copy number variations in patients with Müllerian aplasia |
| Q39601677 | FGFR3 is a target of the homeobox transcription factor SHOX in limb development |
| Q34947910 | Functional redundancy between human SHOX and mouse Shox2 genes in the regulation of sinoatrial node formation and pacemaking function. |
| Q35566474 | Genetic causes of human infertility |
| Q33538485 | Genetic craniofacial aberrations |
| Q33967990 | Genetic disorders of calcium and phosphorus metabolism |
| Q33906292 | Genetic disorders of the skeleton: a developmental approach |
| Q34471576 | Genetic interactions between Shox2 and Hox genes during the regional growth and development of the mouse limb |
| Q51456631 | Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population. |
| Q37004640 | Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency |
| Q37043860 | Growth Disorders |
| Q38075771 | Height matters-from monogenic disorders to normal variation |
| Q36930156 | High incidence of SHOX anomalies in individuals with short stature. |
| Q47398534 | High mutation rates in human and ape pseudoautosomal genes |
| Q52544411 | Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate. |
| Q28273020 | Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay |
| Q38948750 | Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region |
| Q35591696 | Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. |
| Q34021087 | Identification of a major recombination hotspot in patients with short stature and SHOX deficiency |
| Q39085828 | Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin |
| Q27325466 | Identification of novel SHOX target genes in the developing limb using a transgenic mouse model |
| Q55115698 | Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. |
| Q37395062 | Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature |
| Q38123889 | Langer mesomelic dysplasia in early fetuses: two cases and a literature review |
| Q92408373 | Leri-Weill Dyschondrosteosis Syndrome: Analysis via 3DCT Scan |
| Q35141067 | Long-term follow-up of females with unbalanced X;Y translocations-reproductive and nonreproductive consequences |
| Q37732884 | Longitudinal Observation of a Patient with Leri-Weill Dyschondrosteosis and SHOX Haploinsufficiency |
| Q51985004 | Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3. |
| Q33966042 | Managing idiopathic short stature: role of somatropin (rDNA origin) for injection. |
| Q28216454 | Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes |
| Q34443190 | Mice with an anterior cleft of the palate survive neonatal lethality |
| Q74304202 | Molecular and cytogenetic analysis of familial Xp deletions |
| Q35167170 | Molecular basis of pubertal abnormalities |
| Q77899161 | Molecular cytogenetic analysis of a Xp21.3-pter deletion in a family with normal and short stature |
| Q28142964 | Mutant WD-repeat protein in triple-A syndrome |
| Q37451978 | NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development. |
| Q46115764 | New mesomelic dysplasia with absent fibulae and triangular tibiae. |
| Q63681423 | No evidence of unbalanced growth-related gene inheritance in a series of overgrowth syndrome patients |
| Q24319784 | PITX2 gain-of-function induced defects in mouse forelimb development |
| Q36774245 | Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region |
| Q36343359 | Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape |
| Q53308474 | Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean? |
| Q28769042 | Pseudoautosomal linkage of Hodgkin disease |
| Q34145987 | Pseudoautosomal linkage of Hodgkin disease |
| Q44063145 | Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. |
| Q37514812 | Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. |
| Q26748496 | SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature |
| Q36964565 | SHOX at a glance: from gene to protein |
| Q28206413 | SHOX gene in Leri-Weill syndrome and in idiopathic short stature |
| Q34116408 | SHOX haploinsufficiency and overdosage: impact of gonadal function status. |
| Q50058186 | SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester |
| Q24338206 | SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer |
| Q34992962 | SHOX mutations |
| Q33957465 | SHOX: growth, Léri-Weill and Turner syndromes |
| Q33767043 | SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis |
| Q46616427 | SNPS in the promoter regions of the canine RMRP and SHOX genes are not associated with canine chondrodysplasia |
| Q52166670 | Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. |
| Q37732685 | Short stature and turner skeletal features in an 11-year-old boy with a ring y chromosome missing the short stature homeobox containing gene |
| Q58493459 | Short stature homeoboxcontaining gene and idiopathic short stature |
| Q38492606 | Short stature in a mother and daughter caused by familial der(X)t(X;X)(p22.1-3;q26). |
| Q37222054 | Shox2 is essential for the differentiation of cardiac pacemaker cells by repressing Nkx2-5. |
| Q28505826 | Shox2 is required for chondrocyte proliferation and maturation in proximal limb skeleton |
| Q28592303 | Shox2-deficiency leads to dysplasia and ankylosis of the temporomandibular joint in mice |
| Q34017467 | Skeletal Deformity Associated with SHOX Deficiency |
| Q35110134 | Skeletal dysplasias caused by a disruption of skeletal patterning and endochondral ossification. |
| Q33958594 | Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region. |
| Q57169656 | Surgical Management of Madelung Deformity: A Systematic Review |
| Q34512495 | Tbx4 interacts with the short stature homeobox gene Shox2 in limb development |
| Q35154981 | Telomeres: a diagnosis at the end of the chromosomes |
| Q52138316 | Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri-Weill dyschondrosteosis, developmental delay, and ichthyosis. |
| Q24651521 | The Human Pseudoautosomal Region (PAR): Origin, Function and Future |
| Q37800665 | The Management of Congenital and Acquired Problems of the Distal Radioulnar Joint in Children |
| Q21263164 | The SWI/SNF protein ATRX co-regulates pseudoautosomal genes that have translocated to autosomes in the mouse genome |
| Q33774631 | The Short-Stature Homeobox-Containing Gene (shox/SHOX) Is Required for the Regulation of Cell Proliferation and Bone Differentiation in Zebrafish Embryo and Human Mesenchymal Stem Cells |
| Q34142664 | The Turner syndrome-associated neurocognitive phenotype maps to distal Xp |
| Q35128232 | The genetic basis for skeletal diseases |
| Q34428895 | The homeobox transcription factor HOXA9 is a regulator of SHOX in U2OS cells and chicken micromass cultures |
| Q48276412 | The human SHOX mutation database |
| Q80861506 | The novel human SHOX allelic variant database |
| Q64904383 | The phenotype of a pig with monosomy X resembling Turner syndrome symptoms: a case report. |
| Q40555569 | The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes |
| Q33639123 | Transcription factors in dysmorphology |
| Q40636886 | Transcriptional and translational regulation of the Leri-Weill and Turner syndrome homeobox gene SHOX. |
| Q36065062 | Turner syndrome and GH treatment: the state of the art. |
| Q34750146 | Turner syndrome and haploinsufficiency |
| Q34332620 | Turner's syndrome |
| Q80133335 | [Langer's type mesomelic dysplasia] |
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