(Q68137418)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1594221%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

title

Affected females in X-linked congenital stationary night blindness (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1594221%20AND%20SRC:MED&resulttype=core&format=json

X-linked congenital stationary night blindness

22 September 2019

main subject

0 references

author name string

M S Ruttum

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1594221%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

M F Lewandowski

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1594221%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

J B Bateman

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1594221%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

publication date

1 May 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1594221%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1594221%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

volume

99

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1594221%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1594221%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

page(s)

747-752

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1594221%20AND%20SRC:MED&resulttype=core&format=json

Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp

22 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

Reduced amplitude of oscillatory potentials in female carriers of X-linked recessive congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

[X-chromosomal hereditary night blindness: detection of carriers by segregation analysis with linked DNA markers]

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

Sex-linked essential nyctalopia in a Norwegian family

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

[Analysis of the human electroretinogram]

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

Electroretinography in cases of night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

Congenital stationary night blindness with negative electroretinogram. A new classification

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

ELECTRORETINOGRAPHIC FINDINGS (INCLUDING FLICKER) IN CARRIERS OF CONGENITAL X-LINKED ACHROMATOPSIA

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

X-chromosomal ocular albinism in a Dutch family

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

Hereditary retinoschisis

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

Choroideremia in a female.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

Carrier detection in typical and atypical X-linked agammaglobulinemia

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2892%2931902-5

7 January 2021

10.1016/S0161-6420(92)31902-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1594221%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

1 reference