| scholarly article | Q13442814 |
| P50 | author | Julie McGaughran | Q55603479 |
| P2093 | author name string | Donnai D | |
| Read AP | |||
| Oates A | |||
| Tassabehji M | |||
| P2860 | cites work | PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis | Q24317343 |
| Pax1, a member of the paired box-containing class of developmental control genes, is mapped to human chromosome 20p11.2 by in situ hybridization (ISH and FISH) | Q24338309 | ||
| PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida | Q24517914 | ||
| Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene | Q28181722 | ||
| The human PAX6 gene is mutated in two patients with aniridia | Q28207886 | ||
| Getting your Pax straight: Pax proteins in development and disease | Q28212326 | ||
| Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia | Q28213883 | ||
| Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9 | Q28242005 | ||
| Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly | Q28252261 | ||
| splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3 | Q28585890 | ||
| Mouse small eye results from mutations in a paired-like homeobox-containing gene | Q29617930 | ||
| Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci | Q34342489 | ||
| Evolution and role of Pax genes | Q34344706 | ||
| Mutation of PAX2 in two siblings with renal-coloboma syndrome | Q34373971 | ||
| The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney | Q35934032 | ||
| The molecular basis of the undulated/Pax-1 mutation | Q38333435 | ||
| Valproic acid-induced somite teratogenesis in the chick embryo: relationship with Pax-1 gene expression | Q38354437 | ||
| The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion | Q39969169 | ||
| How neutral are synonymous codon mutations? | Q57398305 | ||
| PAX genes in human developmental anomalies | Q59662102 | ||
| The Klippel-Feil Anomalad as part of the fetal alcohol syndrome | Q67013142 | ||
| undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1 | Q67950228 | ||
| P433 | issue | 6 | |
| P304 | page(s) | 468-474 | |
| P577 | publication date | 2003-06-01 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | Mutations in PAX1 may be associated with Klippel-Feil syndrome | |
| P478 | volume | 11 |
| Q35409309 | A Rare Presentation of Os Odontoideum with Multiple Vertebral Fusion in Type III Klippel-Feil Syndrome (KFS) - A Case Report |
| Q48010490 | A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome |
| Q35406332 | Assessing methylation status of PAX1 in cervical scrapings, as a novel diagnostic and predictive biomarker, was closely related to screen cervical cancer |
| Q97538273 | Congenital Fusion of Dens to T3 Vertebra in Klippel-Feil Syndrome |
| Q64086319 | Expanding the neurodevelopmental phenotypes of individuals with de novo variants |
| Q39871066 | Influence of porcine intervertebral disc matrix on stem cell differentiation |
| Q93258225 | Klippel-Feil syndrome with cervical diastematomyelia in an adult with extensive cervico-thoracic fusions: case report and review of the literature |
| Q36119952 | Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations. |
| Q38129376 | Making no bones about it: Transcription factors in vertebrate skeletogenesis and disease |
| Q50945102 | Metameric pattern of intervertebral disc/vertebral body is generated independently of Mesp2/Ripply-mediated rostro-caudal patterning of somites in the mouse embryo. |
| Q40041521 | Molecular diagnosis of vertebral segmentation disorders in humans |
| Q28277217 | Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome |
| Q36524761 | Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly |
| Q41467503 | Non-invasive Raman Spectroscopy and Quantitative Real-Time PCR Distinguish Among Undifferentiated Human Mesenchymal Stem Cells and Redifferentiated Nucleus Pulposus Cells and Chondrocytes In Vitro. |
| Q38844574 | Paired boxed gene 1 expression: A single potential biomarker for differentiating endometrial lesions associated with favorable outcomes in patients with endometrial carcinoma |
| Q50484514 | Pax1(EGFP): new wildtype and mutant EGFP mouse lines for molecular and fate mapping studies. |
| Q47701821 | Proteomic Analysis of Nucleus Pulposus Cell-derived Extracellular Matrix Niche and Its Effect on Phenotypic Alteration of Dermal Fibroblasts. |
| Q52726492 | Quantitative DNA methylation analysis of paired box gene 1 and LIM homeobox transcription factor 1 α genes in cervical cancer. |
| Q39312534 | Restriction of retinoic acid activity by Cyp26b1 is required for proper timing and patterning of osteogenesis during zebrafish development |
| Q57046882 | Skeletal malformations of Meox1-deficient zebrafish resemble human Klippel-Feil syndrome |
| Q35110423 | Spinal dermoid sinus in a Dachshund with vertebral and thoracic limb malformations. |
| Q99404861 | T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features |
| Q35642438 | Tgfbr2 regulates the maintenance of boundaries in the axial skeleton |
| Q47289923 | The intriguing history of vertebral fusion anomalies: the Klippel-Feil syndrome |
| Q64264928 | The promising role of PAX1 (aliases: HUP48 , OFC2 ) gene methylation in cancer screening |
| Q43832980 | Triage of cervical cytological diagnoses of atypical squamous cells by DNA methylation of paired boxed gene 1 (PAX1). |
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