X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (18) 18
hsd17b4 (16) 16
humans (15) 15
female (9) 9
male (9) 9
mutation (8) 8
peroxisomal multifunctional protein-2 (8) 8
cell biology (7) 7
enzymes (7) 7
genetics & heredity (7) 7
peroxisomal multifunctional protein-2 - genetics (7) 7
17-hydroxysteroid dehydrogenases - genetics (6) 6
adult (6) 6
beta-oxidation (6) 6
cancer (6) 6
hydro-lyases - genetics (6) 6
deafness (5) 5
hearing loss, sensorineural - genetics (5) 5
hsd17b4 gene (5) 5
perrault syndrome (5) 5
bifunctional protein-deficiency (4) 4
cause ovarian dysgenesis (4) 4
endocrinology & metabolism (4) 4
expression (4) 4
fatty acids (4) 4
hearing-loss (4) 4
heterozygote (4) 4
proteins (4) 4
spectrum (4) 4
17-beta-hydroxysteroid dehydrogenases (3) 3
activation (3) 3
ataxia (3) 3
d-bifunctional protein deficiency (3) 3
disease progression (3) 3
dna mutational analysis (3) 3
dna sequencing (3) 3
genes (3) 3
genetic aspects (3) 3
gonadal dysgenesis, 46,xx - genetics (3) 3
hearing impairment (3) 3
infant (3) 3
middle aged (3) 3
molecular-basis (3) 3
multifunctional protein (3) 3
mutation, missense (3) 3
nucleotide sequencing (3) 3
obstetrics and gynecology (3) 3
oncology (3) 3
pedigree (3) 3
peroxisomal multifunctional protein-2 - deficiency (3) 3
peroxisomal multifunctional protein-2 - metabolism (3) 3
peroxisomes (3) 3
prostate cancer (3) 3
17-beta-estradiol dehydrogenase (2) 2
17-hydroxysteroid dehydrogenases - deficiency (2) 2
adolescent (2) 2
aged (2) 2
amino acyl-trna synthetases - genetics (2) 2
androgens (2) 2
article (2) 2
base sequence (2) 2
case report (2) 2
case-control studies (2) 2
cerebellar ataxia (2) 2
diagnosis (2) 2
down-regulation - drug effects (2) 2
estradiol (2) 2
fatty-acids (2) 2
gene deletion (2) 2
genetic predisposition to disease (2) 2
genetic testing (2) 2
genetics (2) 2
genomics (2) 2
hars2 (2) 2
hearing loss, sensorineural - diagnosis (2) 2
hepatocellular-carcinoma (2) 2
hydro-lyases - deficiency (2) 2
liver (2) 2
medical colleges (2) 2
medical research (2) 2
medicine, experimental (2) 2
metabolism (2) 2
mitochondrial dna (2) 2
mutation - genetics (2) 2
mutations (2) 2
neurology (2) 2
nuclear magnetic resonance--nmr (2) 2
obstetrics & gynecology (2) 2
phenotype (2) 2
physiological aspects (2) 2
polymorphism, single nucleotide (2) 2
proliferation (2) 2
prostate-cancer (2) 2
research (2) 2
risk factors (2) 2
sensorineural deafness (2) 2
sequence analysis, dna (2) 2
steroids (2) 2
testosterone (2) 2
transfer-rna synthetase (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal Article
BMC Medical Genetics, ISSN 1471-2350, 08/2017, Volume 18, Issue 1, pp. 91 - 91
Journal Article
BMC medical genetics, ISSN 1471-2350, 03/2014, Volume 15, Issue 1, pp. 30 - 30
Background: D-bifunctional protein deficiency, caused by recessive mutations in HSD17B4, is a severe, infantile-onset disorder of peroxisomal fatty acid... 
Perrault syndrome | Multi-system disorders | HSD17B4 | Peroxisomal defects | CNV | Mitochondrial disease | Mitochondrial disorders | Mitochondria | DBP | Next-generation sequencing | D-bifunctional protein deficiency | Exome sequencing | Ataxia | Human genetics | Mendelian disorders | Copy number variants | BETA-OXIDATION | TYPE-4 | HEARING-LOSS | BIFUNCTIONAL PROTEIN-DEFICIENCY | GENETICS & HEREDITY | MICE | MUTATIONS | CAUSE OVARIAN DYSGENESIS | Sequence Deletion | Humans | Peroxisomal Multifunctional Protein-2 - genetics | Molecular Sequence Data | Male | DNA Copy Number Variations | Hearing Loss, Sensorineural - diagnosis | Molecular Diagnostic Techniques | Base Sequence | Hearing Loss, Sensorineural - enzymology | Adult | Ataxia - genetics | Abnormalities, Multiple - genetics | Azoospermia - diagnosis | Mitochondrial Diseases - genetics | Peroxisomal Multifunctional Protein-2 - deficiency | Gene Dosage | Hearing Loss, Sensorineural - genetics | Ataxia - diagnosis | Sequence Analysis, DNA | Mitochondrial Diseases - enzymology | Phenotype | Ataxia - enzymology | Abnormalities, Multiple - diagnosis | Abnormalities, Multiple - enzymology | Azoospermia - genetics | Heterozygote | High-Throughput Nucleotide Sequencing | Azoospermia - enzymology | Mitochondrial Diseases - diagnosis | Usage | Genetic susceptibility | Genetic variation | Physiological aspects | Mitochondrial diseases | Genetic aspects | Research | Nucleotide sequencing | Diagnosis | Methods | DNA sequencing | Enzymes | Neurosciences | Data analysis | Nuclear magnetic resonance--NMR | Genes | Mitochondrial DNA | Hearing impairment | Fatty acids | Proteins | Studies | Musculoskeletal system | Neurology | Hospitals | Biopsy | Mutation | Genetic testing | Age | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Molecular and Cellular Endocrinology, ISSN 0303-7207, 2001, Volume 171, Issue 1, pp. 205 - 210
Journal Article
Trends in Endocrinology and Metabolism, ISSN 1043-2760, 06/2018, Volume 29, Issue 6, pp. 366 - 368
Journal Article
Gene, ISSN 0378-1119, 05/2018, Volume 657, pp. 60 - 68
Human papillomavirus (HPV) is the most common sexually transmitted agent in the world. HPV6b is a low-risk type of HPVs that causes benign verrucous... 
E7 gene | S100A8/A9 | Expression profile | Human papillomavirus type 6b | INHIBITION | PATHWAY | GENETICS & HEREDITY | CARCINOMAS | HSD17B4 | S100A8 | Index Medicus
Journal Article
Molecular and Cellular Endocrinology, ISSN 0303-7207, 2009, Volume 301, Issue 1, pp. 89 - 96
Journal Article
Journal Article
Journal Article
Cell Reports, ISSN 2211-1247, 01/2018, Volume 22, Issue 3, pp. 809 - 819
Castration-resistant prostate cancer (CRPC) requires tumors to engage metabolic mechanisms that allow sustained testosterone and/or dihydrotestosterone to... 
prostate cancer | androgen receptor | androgens | enzymes | HSD17B4 | metabolism | steroids | drug resistance | splicing | oncology | DEPRIVATION THERAPY | BIFUNCTIONAL PROTEIN-DEFICIENCY | PHYSIOLOGY | METABOLISM | TESTOSTERONE | 17-BETA-HYDROXYSTEROID DEHYDROGENASES | RECEPTOR | MOLECULAR-BASIS | EXPRESSION | ABIRATERONE | CELL BIOLOGY | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 12/2016, Volume 37, Issue 12, pp. 1354 - 1362
Journal Article