| P50 | author | Gilean McVean | Q5561586 |
| | Andrew Oliver Mungo Wilkie | Q21165202 |
| | Anne Goriely | Q56273374 |
| | Simon J McGowan | Q46814592 |
| | Ewa Rajpert-De Meyts | Q47367417 |
| P2093 | author name string | Indira B Taylor | |
| | Susanne P Pfeifer | |
| | Inge A Olesen | |
| | Grete Krag Jacobsen | |
| | Ruth M S Hansen | |
| P2860 | cites work | The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect | Q21563340 |
| | Estimate of the mutation rate per nucleotide in humans | Q24548130 |
| | Parent-of-origin effects in multiple endocrine neoplasia type 2B | Q24672503 |
| | A Molecular Brake in the Kinase Hinge Region Regulates the Activity of Receptor Tyrosine Kinases | Q27647832 |
| | Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3 | Q28242697 |
| | Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations | Q28247788 |
| | Age and sex effects on human mutation rates: an old problem with new complexities | Q28266842 |
| | Common and rare variants in multifactorial susceptibility to common diseases | Q29616282 |
| | Hyperactive Ras in developmental disorders and cancer | Q29616397 |
| | FGFR3 protein expression and its relationship to mutation status and prognostic variables in bladder cancer | Q33292711 |
| | The molecular anatomy of spontaneous germline mutations in human testes | Q33296043 |
| | Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia | Q33771007 |
| | Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes | Q33855646 |
| | Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome | Q33910077 |
| | Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line | Q33967506 |
| | RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis | Q56333589 |
| | Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: Case Report | Q57420665 |
| | Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome | Q58193482 |
| | Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta | Q70969755 |
| | The immunohistochemical expression pattern of Chk2, p53, p19INK4d, MAGE-A4 and other selected antigens provides new evidence for the premeiotic origin of spermatocytic seminoma | Q73046992 |
| | Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases | Q78705444 |
| | Functional identification of the actual and potential stem cell compartments in mouse spermatogenesis | Q79716809 |
| | Paternal bias in parental origin of HRAS mutations in Costello syndrome | Q79886954 |
| | Spectrum of FGFR3 mutations in multiple intraindividual seborrheic keratoses | Q80058867 |
| | SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect | Q80067276 |
| | Genetic reconstruction of mouse spermatogonial stem cell self-renewal in vitro by Ras-cyclin D2 activation | Q84153541 |
| | Gdnf upregulates c-Fos transcription via the Ras/Erk1/2 pathway to promote mouse spermatogonial stem cell proliferation. | Q34001722 |
| | Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype | Q34144279 |
| | The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect | Q34380582 |
| | Exclusive paternal origin of new mutations in Apert syndrome | Q34385938 |
| | Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome | Q34386955 |
| | Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults | Q34452597 |
| | Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene | Q34482223 |
| | Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies | Q34581945 |
| | Evolution of primate gene expression | Q36572075 |
| | Drug-sensitive FGFR2 mutations in endometrial carcinoma | Q36735178 |
| | A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations | Q36775474 |
| | Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome | Q36999895 |
| | The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders | Q37159467 |
| | The role of senescence and prosurvival signaling in controlling the oncogenic activity of FGFR2 mutants associated with cancer and birth defects | Q37239885 |
| | Understanding what determines the frequency and pattern of human germline mutations | Q37347927 |
| | Spermatogonial stem cells: mouse and human comparisons | Q37420629 |
| | Effects of two major activating lesions on the structure and conformation of human ras oncogene products | Q37672156 |
| | The phosphotyrosine phosphatase SHP2 is a critical mediator of transformation induced by the oncogenic fibroblast growth factor receptor 3 | Q40627919 |
| | Spermatocytic seminoma | Q40633315 |
| | Regulation of cell fate decision of undifferentiated spermatogonia by GDNF. | Q40898231 |
| | Carcinoma-in-situ of the testis: possible origin from gonocytes and precursor of all types of germ cell tumours except spermatocytoma | Q41371198 |
| | Genetics and epidemiology, congenital anomalies and cancer. | Q43108944 |
| | Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice | Q43640386 |
| | Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. | Q45345154 |
| | Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders | Q45345155 |
| | Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. | Q45345166 |
| | Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? | Q46516316 |
| | Strong and weak male mutation bias at different sites in the primate genomes: insights from the human-chimpanzee comparison. | Q51323042 |
| | Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. | Q51969940 |
| | A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos. | Q52167503 |
| | FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial cell carcinoma. | Q52857898 |
| | Fibroblast growth factor receptor 2, gain-of-function mutations, and tumourigenesis: investigating a potential link. | Q53356362 |
| | Biological and biochemical properties of human rasH genes mutated at codon 61. | Q53538669 |
| | The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. | Q55425084 |
| P433 | issue | 11 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | congenital disorder | Q727096 |
| P304 | page(s) | 1247-1252 | |
| P577 | publication date | 2009-10-25 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors | |
| P478 | volume | 41 | |