| scholarly article | Q13442814 |
| P2093 | author name string | Carmen Ayuso | |
| Rosa Riveiro-Alvarez | |||
| Carmen Ramos | |||
| Isabel Lorda-Sanchez | |||
| Cristina Gonzalez-Gonzalez | |||
| Elena Vallespin | |||
| Ana Bustamante-Aragones | |||
| Maria Jose Trujillo-Tiebas | |||
| Marta Rodriguez de Alba | |||
| Dan Diego-Alvarez | |||
| P2860 | cites work | Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12) | Q22010603 |
| Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene | Q24531671 | ||
| A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene | Q24539435 | ||
| Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa | Q24676776 | ||
| Mutations in the CRB1 gene cause Leber congenital amaurosis | Q28202971 | ||
| CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation | Q28216440 | ||
| Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis | Q28250847 | ||
| Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis | Q28298481 | ||
| Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis | Q28299434 | ||
| Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene | Q28300454 | ||
| Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene | Q28363963 | ||
| Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. | Q34385131 | ||
| Rapid clearance of fetal DNA from maternal plasma | Q34388637 | ||
| Molecular genetics of Leber congenital amaurosis | Q34641603 | ||
| Leber's congenital amaurosis: an update. | Q35077029 | ||
| Leber congenital amaurosis: a genetic paradigm | Q35888828 | ||
| Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR. | Q45288837 | ||
| Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR. | Q45289004 | ||
| Replicate real-time PCR testing of DNA in maternal plasma increases the sensitivity of non-invasive fetal sex determination | Q45859237 | ||
| Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers | Q45875805 | ||
| Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles | Q46670192 | ||
| Evaluation of genotype-phenotype associations in leber congenital amaurosis | Q46736407 | ||
| Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray | Q46868948 | ||
| Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. | Q47359563 | ||
| Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma | Q47391690 | ||
| Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma--case report | Q47399906 | ||
| Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing. | Q54571358 | ||
| Fetal RhD genotyping by maternal serum analysis: a two-year experience. | Q54677407 | ||
| Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation. | Q54688617 | ||
| Fetal DNA detection in maternal plasma throughout gestation | Q56836344 | ||
| Presence of fetal DNA in maternal plasma and serum | Q57075132 | ||
| Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma | Q63315257 | ||
| Leber's congenital amaurosis | Q67908261 | ||
| Prenatal DNA diagnosis of a single-gene disorder from maternal plasma | Q73074402 | ||
| Prenatal diagnosis on fetal cells obtained from maternal peripheral blood: report of 66 cases | Q73083982 | ||
| Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters | Q73648522 | ||
| Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique | Q73691629 | ||
| Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats | Q74301965 | ||
| Improvement in sensitivity of allele-specific PCR facilitates reliable noninvasive prenatal detection of cystic fibrosis | Q75424535 | ||
| Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum | Q77543801 | ||
| Use of maternal plasma for noninvasive determination of fetal RhD status | Q81016079 | ||
| Non-invasive prenatal diagnosis of fetal gender using real-time polymerase chain reaction amplification of SRY in maternal plasma | Q81273000 | ||
| Fetal RhD typing with free DNA in maternal plasma | Q81475925 | ||
| P921 | main subject | congenital disorder | Q727096 |
| P304 | page(s) | 1388-1394 | |
| P577 | publication date | 2008-08-04 | |
| P1433 | published in | Molecular Vision | Q6895981 |
| P1476 | title | Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis | |
| P478 | volume | 14 |
| Q35667087 | Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies | cites work | P2860 |
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