Skip directly to search
Skip directly to A to Z list
Skip directly to navigation
Skip directly to page options
Skip directly to site content
Start of Search Controls
Search Form Controls
Search The CDC
submit
CDC A-Z Index
MENU
CDC A-Z
SEARCH
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
#
Search Form Controls
Search The CDC
submit
CDC A-Z Index
Public Health Genomics and Precision Health Knowledge Base (v9.0)
PHGKB
About
Public Health Genomics Branch
PHGKB Weekly Horizon Scan
Genomics Precision Health Scan
Advanced Molecular Detection Clips
Non-Genomics Precision Health Scan
CDC-authored Publications Scan
Specialized PHGKB
Cancer PHGKB
Diabetes PHGKB
Economic Evaluation PHGKB
Environmental Health PHGKB
Family Health History PHGKB
Health Equity PHGKB
HLBS-PopOmics
Infectious Diseases PHGKB
Implementation Science PHGKB
Neurological Disorders PHGKB
Pharmacogenomics PHGKB
Primary Immune Deficiency Diseases PHGKB
Rare Diseases PHGKB
Reproductive and Child Health PHGKB
All Databases
COVID-19 GPH (47336)
CDC/NIH Web Information Database (32181)
CDC-Authored Genomics and Precision Health Publications Database (6021)
Precision Health Database (63675)
Tier-Classified Guidelines Database (534)
Pathogen Advanced Molecular Detection Database (26775)
All of Us Reports and Publications Database (676)
Human Genome Epidemiology
Human Genome Epidemiology Literature Finder (226505)
Epigenetic Epidemiology Publications Database (22770)
Release Note
Contact Us
Precision Health Database
Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 25, 2024
. (Total: 63675 Documents since 2012)
All
Cancer
Diabetes
Economic
Environmental
Equity
FHH
HLBS
ID
Implementation
ND
PGx
PI
Rare
RCH
dataset
All
GPH
Non-GPH
Filtered By
:
Select to fine-tune your search
Disease
Gene
Product Type
Category
Year
Previous
Records 1 - 6 (of 6 Records)
Query Trace:
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
Hewat Thomas I et al. Pediatric diabetes 2022
Similar articles in PubMed
Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome.
Banerjee Indraneel et al. Wellcome open research 2019 4149
Similar articles in PubMed
Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism.
Hashemian Somayyeh et al. International journal of endocrinology 2020 20207250406
Similar articles in PubMed
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld Elizabeth et al. American journal of medical genetics. Part C, Seminars in medical genetics 2019 181(4) 682-692
Similar articles in PubMed
Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389.
Yau Daphne et al. PloS one 2020 15(2) e0228417
Similar articles in PubMed
Diagnostic Genetic Testing for Monogenic Diabetes and Congenital Hyperinsulinemia.
Houghton Jayne A L et al. Methods in molecular biology (Clifton, N.J.) 2020 2076129-177
Similar articles in PubMed
File Formats Help:
How do I view different file formats (PDF, DOC, PPT, MPEG) on this site?
Adobe PDF file
Microsoft PowerPoint file
Microsoft Word file
Microsoft Excel file
Audio/Video file
Apple Quicktime file
RealPlayer file
Text file
Zip Archive file
SAS file
ePub file
Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 25, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
,
National Center on Birth Defects and Developmental Disabilities
TOP