Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 218,524,818 papers from all fields of science
Search
Sign In
Create Free Account
20q13.3
A chromosome band present on 20q
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
9 relations
20q
BIRC7 wt Allele
CDH4 wt Allele
Chromosomes
Expand
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B).
Rieko Takatani
,
M. Minagawa
,
+11 authors
H. Jüppner
Bone
2015
Corpus ID: 32602420
Highly Cited
2010
Highly Cited
2010
Epigenetics, genomic imprinting and assisted reproductive technology.
Y. Bouc
,
S. Rossignol
,
S. Azzi
,
V. Steunou
,
I. Netchine
,
C. Gicquel
Annales d'Endocrinologie
2010
Corpus ID: 37168581
2006
2006
DNA copy number aberrations in intestinal-type gastric cancer revealed by array-based comparative genomic hybridization.
H. Vauhkonen
,
M. Vauhkonen
,
A. Sajantila
,
P. Sipponen
,
S. Knuutila
Cancer Genetics and Cytogenetics
2006
Corpus ID: 41016227
Review
2005
Review
2005
GNAS Locus and Pseudohypoparathyroidism
M. Bastepe
,
H. Jüppner
Hormone Research in Paediatrics
2005
Corpus ID: 24353904
Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone…
Expand
Highly Cited
2004
Highly Cited
2004
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction
M. C. Richards
,
S. Heron
,
+5 authors
A. Davy
Journal of Medical Genetics
2004
Corpus ID: 15068309
Mutations in the voltage gated potassium channels KCNQ2 (OMIM 602235) and KCNQ3 (OMIM 602232) are associated with an autosomal…
Expand
Highly Cited
2001
Highly Cited
2001
Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element…
M. Bastepe
,
J. Pincus
,
+7 authors
H. Jüppner
Human Molecular Genetics
2001
Corpus ID: 8871413
Pseudohypoparathyroidism type Ib (PHP-Ib) is a paternally imprinted disorder which maps to a region on chromosome 20q13.3 that…
Expand
Highly Cited
2000
Highly Cited
2000
Cloning, sequencing, chromosomal location, and function of cDNAs encoding an opioid growth factor receptor (OGFr) in humans 1 The nucleotide sequences of human OGFr have been deposited in GenBank…
I. Zagon
,
M. Verderame
,
Sandra S Allen
,
P. McLaughlin
Brain Research
2000
Corpus ID: 37516655
Review
2000
Review
2000
Pseudohypoparathyroidism. New insights into an old disease.
M. Bastepe
,
Harald Jüppner
Endocrinology and metabolism clinics of North…
2000
Corpus ID: 4731205
1995
1995
Molecular cloning of the alpha 3 chain of human type IX collagen: linkage of the gene COL9A3 to chromosome 20q13.3.
R. G. Brewton
,
B. M. Wood
,
+7 authors
J. Baker
Genomics
1995
Corpus ID: 44482771
Type IX collagen is composed of three polypeptides derived from the human genes COL9A1, COL9A2, and COL9A3 that assemble to form…
Expand
Highly Cited
1994
Highly Cited
1994
Detection of DNA amplification in 17 primary breast carcinomas with homogeneously staining regions by a modified comparative genomic hybridization technique
M. Muleris
,
A. Almeida
,
M. Gerbault‐Seureau
,
B. Malfoy
,
B. Dutrillaux
Genes, Chromosomes and Cancer
1994
Corpus ID: 532815
A modified comparative genomic hybridization (mCGH) technique was applied to a series of 17 primary breast carcinomas in which…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE