X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
hennekam syndrome (36) 36
index medicus (35) 35
humans (34) 34
lymphedema (31) 31
genetics & heredity (24) 24
intestinal lymphangiectasia (23) 23
mental-retardation (23) 23
male (21) 21
hennekam-syndrome (18) 18
female (17) 17
syndrome (14) 14
lymphedema - genetics (12) 12
infant, newborn (11) 11
lymphangiectasia (11) 11
phenotype (10) 10
child (8) 8
lymphangiectasis, intestinal - diagnosis (8) 8
lymphedema - diagnosis (8) 8
abnormalities, multiple - genetics (7) 7
face - abnormalities (7) 7
genes, recessive (7) 7
infant (7) 7
abnormalities, multiple - pathology (6) 6
animals (6) 6
calcium-binding proteins - genetics (6) 6
ccbe1 (6) 6
child, preschool (6) 6
chylothorax (6) 6
dysplasia (6) 6
genetic aspects (6) 6
mutations (6) 6
tumor suppressor proteins - genetics (6) 6
adult (5) 5
case report (5) 5
craniofacial abnormalities - diagnosis (5) 5
craniofacial abnormalities - genetics (5) 5
lymphangiectasis, intestinal - genetics (5) 5
lymphangiogenesis (5) 5
lymphedema - congenital (5) 5
lymphedema - pathology (5) 5
mutation (5) 5
pedigree (5) 5
pregnancy (5) 5
adolescent (4) 4
analysis (4) 4
anomalies (4) 4
autosomal recessive inheritance (4) 4
hydrops fetalis (4) 4
hydrops fetalis - genetics (4) 4
lung diseases - diagnosis (4) 4
lymphangiectasis - congenital (4) 4
lymphangiectasis - diagnosis (4) 4
lymphangiectasis, intestinal - pathology (4) 4
lymphangiectasis, intestinal - therapy (4) 4
lymphatic system (4) 4
mice (4) 4
nonimmune hydrops-fetalis (4) 4
prenatal diagnosis (4) 4
protein-losing enteropathy (4) 4
transcription factor (4) 4
abridged index medicus (3) 3
calcium-binding proteins - metabolism (3) 3
cardiac & cardiovascular systems (3) 3
care and treatment (3) 3
consanguinity (3) 3
diagnosis (3) 3
diagnosis, differential (3) 3
embryonic lymphangiogenesis (3) 3
exome sequencing (3) 3
exudative enteropathy (3) 3
fatal outcome (3) 3
gastroenterology & hepatology (3) 3
gene (3) 3
genital diseases, male - diagnosis (3) 3
genotype (3) 3
hennekam's syndrome (3) 3
hereditary lymphedema (3) 3
hydrops fetalis - diagnosis (3) 3
immunology (3) 3
intellectual disability - genetics (3) 3
intellectual disability - pathology (3) 3
intestine (3) 3
karyotyping (3) 3
lung diseases - congenital (3) 3
lymphangiectasis - genetics (3) 3
lymphangiectasis - pathology (3) 3
lymphangiectasis, intestinal - complications (3) 3
lymphedema - therapy (3) 3
manifestations (3) 3
mullerian derivatives (3) 3
nonimmune hydrops (3) 3
noonan syndrome (3) 3
peripheral vascular disease (3) 3
pleural effusion (3) 3
seizures (3) 3
surgery (3) 3
treatment outcome (3) 3
tumor suppressor proteins - metabolism (3) 3
urioste-syndrome (3) 3
usage (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2018, Volume 176, Issue 5, pp. 1166 - 1174
Biallelic variants in FAT4 are associated with the two disorders, Van Maldergem syndrome (VMS) ( n  = 11) and Hennekam syndrome (HS) ( n = 40). Both conditions... 
CCBE1 | Van Maldergem syndrome | ADAMTS3 | lymphedema | DCHS1 | Hennekam syndrome | FAT4 | EMBRYONIC LYMPHANGIOGENESIS | MENTAL-RETARDATION | ABNORMALITIES | GENETICS & HEREDITY | MUTATIONS | Medicine, Experimental | Medical research | Phenotype | Genetic aspects | Analysis | Neonates | Lymphedema | Osteopenia | Hearing loss | Index Medicus
Journal Article
Annals of Rehabilitation Medicine, ISSN 2234-0645, 02/2018, Volume 42, Issue 1, pp. 184 - 188
Hennekam syndrome is a rare autosomal recessive disorder resulting from malformation of the lymphatic system. The characteristic signs of Hennekam syndrome are... 
Lymphedema | Hennekam lymphangiectasia lymphedema syndrome | Case Report
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 06/2019, Volume 179, Issue 6, pp. 1058 - 1062
CREBBP loss-of function variants cause Rubinstein-Taybi syndrome (RTS). There have been two separate reports of patients with missense variants in exon 30 or... 
Rubinstein–Taybi syndrome | CREBBP | Menke–Hennekam syndrome | MUTATIONS | Menke-Hennekam syndrome | Rubinstein-Taybi syndrome | GENETICS & HEREDITY | Respiratory tract | Genotype & phenotype | Autism | Phenotypes | Feeding behavior | Microencephaly | Epilepsy | Cochlea | Corpus callosum | Genotypes
Journal Article
世界胃肠病学杂志:英文版, ISSN 1007-9327, 2012, Volume 18, Issue 43, pp. 6333 - 6337
Journal Article
Revue de Pneumologie Clinique, ISSN 0761-8417, 10/2013, Volume 69, Issue 5, pp. 260 - 264
Lymphedema associated with other developmental malformations (Milroy syndrome, Hennekam syndrome, Noonan syndrome, Gorham-Stout syndrome, yellow nail syndrome)... 
Hennekam syndrome | Gorham-Stout syndrome | Noonan syndrome | Milroy syndrome | Yellow nail syndrome
Journal Article
Chinese Journal of Contemporary Pediatrics, ISSN 1008-8830, 01/2015, Volume 17, Issue 1, pp. 77 - 80
Journal Article
Indian Journal of Nephrology, ISSN 0971-4065, 10/2011, Volume 21, Issue 4, pp. 273 - 275
Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation.... 
Hennekam lymphangiectasia syndrome | Renal lymphangiectasia | Facial and dental anomalies | Case studies | Care and treatment | Usage | Lymphatic diseases | Diagnosis | Ultrasound imaging | Lymphatic system | Congenital diseases | renal lymphangiectasia | Case Report
Journal Article
Journal Article
Turk Toraks Dergisi, ISSN 1302-7808, 01/2015, Volume 16, Issue 1, pp. 33 - 35
Hennekam syndrome was defined as a syndrome characterized by a new autosomal recessive, severe lymphedema in legs, face and genitalia with intestinal... 
Pleural effusion | Hennekam syndrome | Lymphedema | Chylothorax | pleural effusion | lymphedema | chylothorax | Case Report
Journal Article
Clinical Case Reports, ISSN 2050-0904, 12/2018, Volume 6, Issue 12, pp. 2358 - 2363
Whole exome sequencing ( WES ) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia‐lymphedema syndrome‐1.... 
hydrops fetalis | exome sequencing | Hennekam syndrome | congenital abnormalities | prenatal diagnosis | genetic testing | Lymphedema
Journal Article
Scottish Medical Journal, ISSN 0036-9330, 2009, Volume 54, Issue 3, pp. 58 - 58
Journal Article
The EuroBiotech Journal, ISSN 2564-615X, 09/2018, Volume 2, Issue 1, pp. 16 - 18
Hennekam Syndrome (HS) is a combination of congenital lymphatic malformation, lymphangiectasia and other disorders. It is a very rare disorder with autosomal... 
EBTNA UTILITY GENE TEST | Hennekam syndrome | Primary lymphatic malformations
Journal Article
CLINICAL DYSMORPHOLOGY, ISSN 0962-8827, 10/2003, Volume 12, Issue 4, pp. 227 - 232
We report four children from four inbred Arab families with varying manifestations of Hennekam syndrome and additional features that have not been previously... 
MENTAL-RETARDATION | lymphedema | GENETICS & HEREDITY | intestinal lymphangiectasia | PHENOTYPE | Hennekam syndrome | PROX1 | craniofacial morphogenesis | MANIFESTATIONS
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.