Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.

scientific article

Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1136/JMG.30.12.1044
P932PMC publication ID1016646
P698PubMed publication ID7907666
P5875ResearchGate publication ID15290899

P50authorSusan LindsayQ67405761
P2093author name stringK E Davies
A Fielder
I A Glass
M P Coleman
A H Nemeth
P Good
M G Giles
P Fullwood
H A Willshaw
P2860cites workEnzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemiaQ27861076
Aland eye disease: linkage dataQ33658758
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 variantsQ35013854
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophyQ35198055
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reactionQ35247229
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studiesQ35570490
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindnessQ38671213
X-linked congenital stationary night blindness. Review and report of a family with hyperopiaQ39532361
X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriersQ44224593
Congenital stationary night blindness with negative electroretinogram. A new classificationQ44444809
Aland eye disease (Forsius-Eriksson-Miyake syndrome) with probability established in a Danish familyQ44936014
A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosomeQ60641499
Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7Q67754465
Gene locus for X-linked CSNBQ68659190
Nystagmographical studies in Aland eye diseaseQ69130765
A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errorsQ70264618
Isolation and characterization of three microsatellite markers in the proximal long arm of the human X chromosomeQ70497073
A decisive electrophysiological test for human albinismQ72692098
Aland eye disease: no albino misroutingQ93658628
P433issue12
P407language of work or nameEnglishQ1860
P921main subjecteye diseaseQ3041498
P304page(s)1044-1050
P577publication date1993-12-01
P1433published inJournal of Medical GeneticsQ14640281
P1476titleGenetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome
P478volume30

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cites work (P2860)
Q37312045Aland island eye disease: clinical and electrophysiological studies of a Welsh family
Q34712842Assessment of night vision problems in patients with congenital stationary night blindness
Q24517919Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1
Q33676559Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness
Q24538863Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.
Q37379790Genetic architecture of natural variation in visual senescence in Drosophila.
Q34636737High heritability of myopia does not preclude rapid changes in prevalence
Q42659278Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB.
Q47609854Molecular genetics of human retinal dystrophies
Q34490849Physical map covering a 2 Mb region in human xp11.3 distal to DX6849.
Q33596248Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous
Q35221170Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing
Q74549886Summary of ocular genetic disorders and inherited systemic conditions with eye findings
Q28214255Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

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