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3q22.1
A chromosome band present on 3q
National Institutes of Health
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2 relations
Chromosomes
RHO wt Allele
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Peripapillary chorioretinal lacunae in a girl with 3q21.3 to 3q22.1 microdeletion with features of Aicardi syndrome.
E. Broomall
,
D. Renaud
,
Rafif Ghadban
,
R. Gavrilova
,
M. Brodsky
JAMA ophthalmology
2013
Corpus ID: 41409968
tions in the literature. This patient uniquely presented with a more dramatic macular pattern at a much later age than an average…
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2013
2013
De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability.
M. Brett
,
I. Ng
,
+4 authors
E. Tan
Gene
2013
Corpus ID: 27070057
2008
2008
Within-family outliers: segregating alleles or environmental effects? A linkage analysis of height from 5815 sibling pairs
Beben Benyamin
,
M. Perola
,
+7 authors
P. Visscher
European Journal of Human Genetics
2008
Corpus ID: 14580661
Most information in linkage analysis for quantitative traits comes from pairs of relatives that are phenotypically most…
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2007
2007
The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family.
X. Cui
,
Ling-han Gao
,
+7 authors
Song-bin Fu
Molecular Vision
2007
Corpus ID: 37813740
PURPOSE Congenital cataract is a fundamental cause of blindness throughout the world. A large multi-generational family in…
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2002
2002
ASSOCIATION OF COMMON GENETIC VARIANTS OF XENOBIOTIC METABOLIZING ENZYMES ( CYPS AND GSTS ) WITH BALKAN ENDEMIC NEPHROPATHY : A STUDY IN THE VRATZA ' S DISTRICT OF BULGARIA
Radoslava B. Sarueva
,
A. Horvath
,
+12 authors
Dimitrov Tz
2002
Corpus ID: 39897203
RENAL INTERSTITIAL FIBROSIS IS A MAJOR FEATURE OF BALKAN ENDEMIC NEPHROPATHY (BEN) G. A. Müller, M. Zeisberg, F Strutz Dept. of…
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2001
2001
Linked markers exclude KIT as the gene responsible for appaloosa coat colour spotting patterns in horses.
R. Terry
,
E. Bailey
,
D. Bernoco
,
E. G. Cothran
Animal Genetics
2001
Corpus ID: 2928815
The appaloosa coat colour pattern of the horse is similar to that caused by the rump-white (Rw) gene in the mouse. In the mouse…
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1981
1981
Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1 leads to q24 in different offspring.
R. Williamson
,
M. Donlan
,
C. Dolan
,
H. Thuline
,
M. Harrison
,
J. Hall
American journal of medical genetics
1981
Corpus ID: 37120305
The use of elongated prophase and prometaphase chromosome preparations has allowed detection of an insertion of a small segment…
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