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hennekam syndrome (36) 36
humans (33) 33
lymphedema (27) 27
genetics & heredity (22) 22
intestinal lymphangiectasia (21) 21
male (21) 21
mental-retardation (21) 21
hennekam-syndrome (19) 19
index medicus (17) 17
female (16) 16
infant, newborn (12) 12
syndrome (12) 12
lymphangiectasia (10) 10
lymphedema - genetics (10) 10
lymphedema - diagnosis (9) 9
phenotype (9) 9
abnormalities, multiple - genetics (8) 8
child (8) 8
lymphangiectasis, intestinal - diagnosis (8) 8
child, preschool (7) 7
infant (7) 7
abnormalities, multiple - pathology (6) 6
calcium-binding proteins - genetics (6) 6
chylothorax (6) 6
craniofacial abnormalities - diagnosis (6) 6
dysplasia (6) 6
genes, recessive (6) 6
genetic aspects (6) 6
pregnancy (6) 6
tumor suppressor proteins - genetics (6) 6
adult (5) 5
animals (5) 5
ccbe1 (5) 5
craniofacial abnormalities - genetics (5) 5
face - abnormalities (5) 5
lymphedema - congenital (5) 5
mutation (5) 5
mutations (5) 5
adolescent (4) 4
analysis (4) 4
anomalies (4) 4
hereditary lymphedema (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 - genetics (4) 4
lymphangiectasis, intestinal - pathology (4) 4
lymphangiectasis, intestinal - therapy (4) 4
lymphatic system (4) 4
lymphedema - pathology (4) 4
nonimmune hydrops-fetalis (4) 4
pedigree (4) 4
prenatal diagnosis (4) 4
protein-losing enteropathy (4) 4
transcription factor (4) 4
abnormalities, multiple - diagnosis (3) 3
abridged index medicus (3) 3
autosomal recessive inheritance (3) 3
brain - abnormalities (3) 3
case report (3) 3
classification (3) 3
consanguinity (3) 3
diagnosis (3) 3
diagnosis, differential (3) 3
edema (3) 3
exome sequencing (3) 3
exudative enteropathy (3) 3
facies (3) 3
fatal outcome (3) 3
foxc2 (3) 3
gastroenterology & hepatology (3) 3
gene (3) 3
generalized lymphatic dysplasia (3) 3
genital diseases, male - diagnosis (3) 3
genotype (3) 3
hennekam's syndrome (3) 3
hydrops fetalis - diagnosis (3) 3
immunology (3) 3
intellectual disability - genetics (3) 3
intellectual disability - pathology (3) 3
karyotyping (3) 3
lung diseases - congenital (3) 3
lymphangiectasis - genetics (3) 3
lymphangiectasis - pathology (3) 3
lymphangiectasis, intestinal - complications (3) 3
lymphangiogenesis (3) 3
lymphedema - therapy (3) 3
lymphoedema (3) 3
manifestations (3) 3
mice (3) 3
mullerian derivatives (3) 3
nonimmune hydrops (3) 3
noonan syndrome (3) 3
pleural effusion (3) 3
proteins (3) 3
seizures (3) 3
surgery (3) 3
treatment outcome (3) 3
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JAMA Dermatology, ISSN 2168-6068, 07/2018, Volume 154, Issue 7, pp. 849 - 850
Journal Article
Chinese Journal of Contemporary Pediatrics, ISSN 1008-8830, 01/2015, Volume 17, Issue 1, pp. 77 - 80
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 05/2019, Volume 208, pp. 38 - 42.e3
To examine the phenotypes and perform next-generation sequencing in children with early-onset protein-losing enteropathy. We performed a retrospective review... 
gastrointestinal disorders | next-generation sequencing | hypoalbuminemia | HENNEKAM SYNDROME | ECULIZUMAB | GENE | PEDIATRICS | TRANSCRIPTION FACTOR | ASSOCIATION | CD55 | DGAT1 MUTATION | Diarrhea | Albumin | Genetic aspects | Immunoglobulin G
Journal Article
Circulation, ISSN 0009-7322, 05/2014, Volume 129, Issue 19, pp. 1962 - 1971
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2829 - 2834
Nonimmune hydrops fetalis (NIHF) is a rare disorder with a high perinatal mortality of at least 50%. One cause of NIHF is generalized lymphatic dysplasia... 
hydrops fetalis | generalized lymphatic dysplasia | exome sequencing | prenatal diagnosis | PIEZO1 variants | HENNEKAM-SYNDROME | GENE | ANOMALIES | GENETICS & HEREDITY | MUTATIONS | Edema | Dysplasia | Ultrasonic imaging | Lymphedema | Hydrops fetalis | Autopsy | Fetuses | Children | Ultrasound
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
Molecular Syndromology, ISSN 1661-8769, 03/2013, Volume 4, Issue 3, pp. 107 - 113
The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting... 
Original Article | Lymphatic dysplasia | CCBE1 | Autosomal recessive | Lymphedema | Lymphangiectasia | Hennekam syndrome | Genotype-phenotype | Original
Journal Article
Scottish Medical Journal, ISSN 0036-9330, 2009, Volume 54, Issue 3, pp. 58 - 58
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
ENDOCRINOLOGIA Y NUTRICION, ISSN 1575-0922, 02/2016, Volume 63, Issue 2, pp. 95 - 96
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2018, Volume 176, Issue 5, pp. 1166 - 1174
Journal Article