scholarly article | Q13442814 |
P50 | author | Susan Lindsay | Q67405761 |
P2093 | author name string | K E Davies | |
A Fielder | |||
I A Glass | |||
M P Coleman | |||
A H Nemeth | |||
P Good | |||
M G Giles | |||
P Fullwood | |||
H A Willshaw | |||
P2860 | cites work | Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia | Q27861076 |
Aland eye disease: linkage data | Q33658758 | ||
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. | Q34465777 | ||
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants | Q35013854 | ||
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy | Q35198055 | ||
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction | Q35247229 | ||
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies | Q35570490 | ||
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness | Q38671213 | ||
X-linked congenital stationary night blindness. Review and report of a family with hyperopia | Q39532361 | ||
X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers | Q44224593 | ||
Congenital stationary night blindness with negative electroretinogram. A new classification | Q44444809 | ||
Aland eye disease (Forsius-Eriksson-Miyake syndrome) with probability established in a Danish family | Q44936014 | ||
A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome | Q60641499 | ||
Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7 | Q67754465 | ||
Gene locus for X-linked CSNB | Q68659190 | ||
Nystagmographical studies in Aland eye disease | Q69130765 | ||
A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors | Q70264618 | ||
Isolation and characterization of three microsatellite markers in the proximal long arm of the human X chromosome | Q70497073 | ||
A decisive electrophysiological test for human albinism | Q72692098 | ||
Aland eye disease: no albino misrouting | Q93658628 | ||
P433 | issue | 12 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | eye disease | Q3041498 |
P304 | page(s) | 1044-1050 | |
P577 | publication date | 1993-12-01 | |
P1433 | published in | Journal of Medical Genetics | Q14640281 |
P1476 | title | Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome | |
P478 | volume | 30 |
Q37312045 | Aland island eye disease: clinical and electrophysiological studies of a Welsh family |
Q34712842 | Assessment of night vision problems in patients with congenital stationary night blindness |
Q24517919 | Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1 |
Q33676559 | Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness |
Q24538863 | Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. |
Q37379790 | Genetic architecture of natural variation in visual senescence in Drosophila. |
Q34636737 | High heritability of myopia does not preclude rapid changes in prevalence |
Q42659278 | Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB. |
Q47609854 | Molecular genetics of human retinal dystrophies |
Q34490849 | Physical map covering a 2 Mb region in human xp11.3 distal to DX6849. |
Q33596248 | Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous |
Q35221170 | Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing |
Q74549886 | Summary of ocular genetic disorders and inherited systemic conditions with eye findings |
Q28214255 | Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina |
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