X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
cantu syndrome (46) 46
index medicus (32) 32
humans (29) 29
genetics & heredity (17) 17
hypertrichosis - genetics (17) 17
male (16) 16
cardiomegaly - genetics (14) 14
female (14) 14
mutation (14) 14
mutations (14) 14
osteochondrodysplasias - genetics (14) 14
animals (13) 13
k-atp channels (13) 13
abcc9 (12) 12
hypertrichosis (12) 12
cantú syndrome (11) 11
osteochondrodysplasia (10) 10
sensitive potassium channels (10) 10
article (9) 9
kcnj8 (9) 9
mice (9) 9
phenotype (9) 9
sulfonylurea receptors - genetics (9) 9
adolescent (8) 8
cantu-syndrome (8) 8
genetic diseases, x-linked - genetics (8) 8
mutation, missense (8) 8
sulfonylurea receptor (8) 8
child, preschool (7) 7
genetic aspects (7) 7
katp channels - genetics (7) 7
kir6.1 (7) 7
cardiac & cardiovascular systems (6) 6
endocrine system (6) 6
katp (6) 6
adult (5) 5
biochemistry & molecular biology (5) 5
cardiomegaly - diagnosis (5) 5
cardiomegaly - diagnostic imaging (5) 5
congenital hypertrichosis (5) 5
diabetes (5) 5
facies (5) 5
genes (5) 5
genetic disorders (5) 5
genetic research (5) 5
genetics (5) 5
heart (5) 5
hypertrichosis - diagnosis (5) 5
hypertrichosis - pathology (5) 5
katp channels - metabolism (5) 5
kir6.2 (5) 5
osteochondrodysplasias - diagnosis (5) 5
osteochondrodysplasias - diagnostic imaging (5) 5
potassium channel (5) 5
syndrome (5) 5
transgenic (5) 5
analysis (4) 4
autosomal-dominant inheritance (4) 4
cardiomegaly - complications (4) 4
cell biology (4) 4
conduction system (4) 4
early repolarization (4) 4
edema (4) 4
gain-of-function (4) 4
gene (4) 4
genetic diseases, x-linked - diagnosis (4) 4
hair (4) 4
hypertrichosis - complications (4) 4
hypertrichosis - diagnostic imaging (4) 4
infant (4) 4
medicine (4) 4
middle aged (4) 4
mouse in vivo electrophysiology (4) 4
osteochondrodysplasias - complications (4) 4
potassium channels (4) 4
smooth-muscle-cells (4) 4
sulfonylurea receptors - metabolism (4) 4
vasodilation (4) 4
young adult (4) 4
abnormalities, multiple - genetics (3) 3
activation (3) 3
age (3) 3
ambras-syndrome (3) 3
arrhythmia (3) 3
autosomal-dominant syndrome (3) 3
base sequence (3) 3
cardiomegaly (3) 3
cardiomegaly - physiopathology (3) 3
cardiovascular (3) 3
cardiovascular system (3) 3
channels (3) 3
child (3) 3
diazoxide (3) 3
dna mutational analysis (3) 3
gene mutations (3) 3
genetic association studies (3) 3
genetic diseases, x-linked - pathology (3) 3
genomics (3) 3
hypertrichosis - congenital (3) 3
hypertrichosis - metabolism (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


CIRCULATION RESEARCH, ISSN 0009-7330, 03/2013, Volume 112, Issue 7, pp. 1059 - 1072
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 6, pp. 661 - 667
Journal Article
Circulation Research, ISSN 0009-7330, 03/2013, Volume 112, Issue 7, pp. 1059 - 1072
Journal Article
Journal Article
ENDOCRINE, ISSN 1355-008X, 03/2018, Volume 59, Issue 3, pp. 677 - 684
Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid... 
FACIAL FEATURES | AUTOSOMAL-DOMINANT SYNDROME | ENDOCRINOLOGY & METABOLISM | Cantu syndrome | ABCC9 | pseudoacromegaly | familiar pituitary adenoma | MUTATIONS
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 10/2019, Volume 10
Mutations in genes encoding K-ATP channel subunits have been reported for pancreatic disorders and Cantu syndrome. Here, we report a syndrome in six patients... 
SENSITIVE POTASSIUM CHANNELS | KIR6.2 | SKELETAL-MUSCLE | PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA | GENE | HIPPOCAMPAL SCLEROSIS | 6-MINUTE WALK | CANTU SYNDROME | MULTIDISCIPLINARY SCIENCES | GLUCOSE-UPTAKE | GAIN
Journal Article
Egyptian Journal of Medical Human Genetics, ISSN 1110-8630, 10/2018, Volume 19, Issue 4, pp. 429 - 432
We report a 3 month old female, third in order of birth of non consanguineous Egyptian parents with the typical features of Cantu syndrome including coarse... 
Hypertrichosis | Cantu syndrome | Coarse features | Dysplasia | Infants | Diagnosis | Bone diseases | Health aspects | Hair | Heart | Edema | Congenital diseases | Cardiovascular disease | Infections | Heredity | Pulmonary hypertension | Ostomy | Hernias | Palate | Neck | Age
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2011, Volume 155, Issue 3, pp. 508 - 518
Journal Article
Journal Article
HEART RHYTHM, ISSN 1547-5271, 11/2015, Volume 12, Issue 11, pp. 2316 - 2324
BACKGROUND Gain-of-function (GOF) mutations in the K-ATP channel subunits Kir6.1 and SUR2 cause Cantu syndrome (CS), a disease characterized by multiple... 
SENSITIVE POTASSIUM CHANNELS | KIR6.2 | Mouse in vivo electrophysiology | CARDIAC & CARDIOVASCULAR SYSTEMS | KCNJ8 | ATRIAL | MOUSE | Transgenic | BLOCK | Cantu syndrome | K-ATP | Conduction system | Kir6.1 | EARLY REPOLARIZATION | MUTATIONS
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2014, Volume 164, Issue 1, pp. 231 - 236
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 09/2019, Volume 40, Issue 5, pp. 453 - 454
When encountering patients with markedly dilated and tortuous retinal vessels, Wyburn-Mason syndrome (WMS) or racemous angiomatosis (phacomatosis) is commonly... 
Wyburn mason syndrome | retinal vasculature | Cantu syndrome
Journal Article
Endocrinology, Diabetes & Metabolism Case Reports, ISSN 2052-0573, 11/2019, Volume 2019, Issue 1, pp. 1 - 5
Summary Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder. It is characterized by... 
Journal Article
Heart rhythm : the official journal of the Heart Rhythm Society, ISSN 1547-5271, 11/2015, Volume 12, Issue 11, pp. 2316 - 2324
Journal Article