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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.
Review
2018
Review
2018
Inherited Disorders of Iron Overload
K. Pantopoulos
Frontiers in Nutrition
2018
Corpus ID: 53079734
Dietary iron absorption and systemic iron traffic are tightly controlled by hepcidin, a liver-derived peptide hormone. Hepcidin…
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2014
2014
ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.
K. Ramzan
,
K. Taibah
,
+6 authors
F. Imtiaz
European Journal of Medical Genetics
2014
Corpus ID: 19961559
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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2011
2011
Association between Genetic Subgroups of Pancreatic Ductal Adenocarcinoma Defined by High Density 500 K SNP-Arrays and Tumor Histopathology
M. Gutiérrez
,
L. Muñoz-Bellvís
,
+4 authors
J. Sayagués
PLoS ONE
2011
Corpus ID: 8666819
The specific genes and genetic pathways associated with pancreatic ductal adenocarcinoma are still largely unknown partially due…
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2009
2009
Facial actinic lichen planus following the Blaschko's lines: successful treatment with topical 0.1% pimecrolimus cream
Khaled Ezzedine
,
Thierry Simonart
,
Pierre Vereecken
,
Michel Heenen
Journal of the European Academy of Dermatology…
2009
Corpus ID: 205588041
© 2008 The Authors JEADV 2009, 23, 441–496 Journal compilation © 2008 European Academy of Dermatology and Venereology Hailey…
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Highly Cited
2008
Highly Cited
2008
Three Novel Collagen VI Chains, α4(VI), α5(VI), and α6(VI)*
J. Fitzgerald
,
Cathleen M. Rich
,
F. Zhou
,
U. Hansen
Journal of Biological Chemistry
2008
Corpus ID: 25560597
We report the identification of three new collagen VI genes at a single locus on human chromosome 3q22.1. The three new genes are…
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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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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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