X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (214) 214
Book Review (34) 34
Publication (22) 22
Book Chapter (4) 4
Conference Proceeding (2) 2
Dissertation (1) 1
Magazine Article (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (149) 149
humans (120) 120
digenic inheritance (106) 106
mutation (87) 87
genetics & heredity (83) 83
male (73) 73
female (67) 67
phenotype (50) 50
genetic aspects (46) 46
mutations (43) 43
adult (40) 40
pedigree (40) 40
genetics (34) 34
gene (30) 30
genes (30) 30
genotype (30) 30
identification (28) 28
middle aged (28) 28
research (27) 27
analysis (26) 26
animals (26) 26
biochemistry & molecular biology (25) 25
digenic mutations (25) 25
adolescent (24) 24
dna mutational analysis (24) 24
child (23) 23
disease (23) 23
gene mutations (23) 23
heterozygote (22) 22
article (20) 20
heredity (20) 20
digenic (19) 19
genetic predisposition to disease (19) 19
alleles (18) 18
deafness (18) 18
phenotypes (18) 18
young adult (18) 18
aged (17) 17
endocrinology & metabolism (17) 17
genetic research (17) 17
genomics (17) 17
quantitative trait loci (17) 17
molecular sequence data (16) 16
mutation - genetics (16) 16
plant sciences (16) 16
child, preschool (15) 15
proteins (15) 15
base sequence (14) 14
digenic epistasis (14) 14
expression (14) 14
medical genetics (14) 14
nerve tissue proteins - genetics (14) 14
agronomy (13) 13
cell biology (13) 13
genetic variation (13) 13
hypogonadism (13) 13
alport syndrome (12) 12
epistasis (12) 12
genomes (12) 12
gonadotropin-releasing-hormone (12) 12
connexins - genetics (11) 11
diagnosis (11) 11
genetic disorders (11) 11
gjb2 (11) 11
homozygote (11) 11
life sciences (11) 11
medicine (11) 11
mice (11) 11
models, genetic (11) 11
qtl (11) 11
sequence analysis, dna (11) 11
spectrum (11) 11
exome sequencing (10) 10
hearing loss (10) 10
hypogonadism - genetics (10) 10
idiopathic hypogonadotropic hypogonadism (10) 10
medicine, research & experimental (10) 10
membrane proteins - genetics (10) 10
mutation, missense (10) 10
polymorphism, single nucleotide (10) 10
amino acid sequence (9) 9
bardet-biedl-syndrome (9) 9
chromosome mapping (9) 9
cohort studies (9) 9
connexin 26 (9) 9
genetic linkage (9) 9
genetic testing (9) 9
genotype & phenotype (9) 9
health aspects (9) 9
hypogonadotropic hypogonadism (9) 9
impairment (9) 9
infant (9) 9
neurosciences (9) 9
pediatrics (9) 9
prevalence (9) 9
research article (9) 9
rice (9) 9
urology & nephrology (9) 9
hearing impairment (8) 8
kallmann syndrome (8) 8
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Autoimmunity, ISSN 0891-6934, 02/2019, Volume 52, Issue 2, pp. 48 - 56
Systemic autoinflammatory diseases (SAIDs) represent a spectrum of genetically heterogeneous inflammatory disorders. Some SAID-associated genes are located in... 
digenic variant | Crohn's disease | NOD2 | Autoinflammatory disease | Yao syndrome | BLAU SYNDROME | CROHNS-DISEASE | PERIODIC SYNDROME | PHENOTYPE | SEQUENCE VARIANTS | IMMUNOLOGY | NOD2 GENE | INFLAMMATORY-BOWEL-DISEASE | FAMILIAL MEDITERRANEAN FEVER | DIGENIC INHERITANCE | MUTATIONS
Journal Article
The Crop Journal, ISSN 2214-5141, 06/2015, Volume 3, Issue 3, pp. 269 - 283
QTL IciMapping is freely available public software capable of building high-density linkage maps and mapping quantitative trait loci (QTL) in biparental... 
Map construction | Biparental populations | Software | QTL mapping | AGRONOMY | STATISTICAL POWER | TRAVELING-SALESMAN PROBLEM | ALGORITHM | IMPROVEMENT | DIGENIC EPISTASIS | PLANT SCIENCES
Journal Article
Frontiers in Endocrinology, ISSN 1664-2392, 2013, Volume 4, pp. 19 - 19
Kallmann syndrome (KS) is a developmental disease that associates hypogonadism and a deficiency of the sense of smell. The reproductive phenotype of KS results... 
Hypogonadotropic hypogonadism | Anosmia | PROK2 | PROKR2 | Kallmann syndrome | Digenic/oligogenic mode of inheritance | hypogonadotropichypogonadism | Kallmann Syndrome | digenic/oligogenic mode of inheritance
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 03/2018, Volume 178, Issue 3, pp. R55 - R80
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause... 
FIBROBLAST-GROWTH-FACTOR-RECEPTOR-1 GENE | GONADOTROPIN-RELEASING-HORMONE | DAX1/NR0B1 MUTATION | ENDOCRINOLOGY & METABOLISM | ADRENAL HYPOPLASIA CONGENITA | DIGENIC MUTATIONS | OF-FUNCTION MUTATIONS | PRIMARY AMENORRHEA | BETA-SUBUNIT | PHENOTYPIC SPECTRUM | LUTEINIZING-HORMONE
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 725 - 743
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 11/2015, Volume 125, Issue 11, pp. 4196 - 4211
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2010, Volume 107, Issue 34, pp. 15140 - 15144
Between the genetic extremes of rare monogenic and common polygenic diseases lie diverse oligogenic disorders involving mutations in more than one locus in... 
Deficiency diseases | Sex hormones | Nervous system diseases | Disease models | Medical genetics | Genetic diseases | Genetic mutation | Kallmann syndrome | Human genetics | Hypogonadism | Rare variant | Digenic | Idiopathic hypogonadotropic hypogonadism | FGFR1 | idiopathic hypogonadotropic hypogonadism | GPR54 | MULTIDISCIPLINARY SCIENCES | CLINICAL HETEROGENEITY | MISSENSE MUTATIONS | PUBERTY | digenic | GENE | BARDET-BIEDL-SYNDROME | LINKED KALLMANN-SYNDROME | FIBROBLAST-GROWTH-FACTOR-RECEPTOR-1 | GNRH RECEPTOR | rare variant | Receptors, LHRH - genetics | Humans | Male | Gene Regulatory Networks | Receptor, Fibroblast Growth Factor, Type 1 - genetics | Case-Control Studies | Receptors, Peptide - genetics | Genetic Variation | DNA Mutational Analysis | Female | Neuropeptides - genetics | Fibroblast Growth Factor 8 - genetics | Kallmann Syndrome - genetics | Extracellular Matrix Proteins - genetics | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Hypogonadism - genetics | Homozygote | Phenotype | Pedigree | Gastrointestinal Hormones - genetics | Heterozygote | Models, Genetic | Receptors, G-Protein-Coupled - genetics | Mutation | Receptors, Kisspeptin-1 | Gonadotropin-Releasing Hormone - deficiency | Cohort Studies | Multifactorial diseases | Genetic aspects | Hormones | Gonadotropin | Health aspects | Pathogens | Genetics | Genetic disorders | Pathogenesis | Index Medicus | Biological Sciences
Journal Article
JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 05/2006, Volume 116, Issue 5, pp. 1337 - 1345
Focal segmental glomerulosclerosis (FSGS) is the most common primary glomerular diagnosis resulting in end-stage renal disease. Defects in several podocyte... 
GLOMERULAR SLIT DIAPHRAGM | KIDNEY-DISEASE | MEDICINE, RESEARCH & EXPERIMENTAL | CONGENITAL NEPHROTIC SYNDROME | MICE DEFICIENT | NEPHRIN | INSULIN-RESISTANCE | DIGENIC INHERITANCE | PODOCIN | MUTATIONS | CD2-ASSOCIATED PROTEIN
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 12/2017, Volume 18, Issue 1, pp. 145 - 145
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 14681 - 8
An increasing number of disorders have been identified for which two or more distinct alleles in two or more genes are required to either cause the disease or... 
BIOMEDICAL ONTOLOGIES | DATABASE | MULTIDISCIPLINARY SCIENCES | CONGENITAL HYPOTHYROIDISM | MOUSE | DIGENIC INHERITANCE | GENETIC-VARIANTS | MENDELIAN DISEASE | IDENTIFICATION | MODIFIER GENES | DATA FUSION | Pathogenicity | Phenotypes | Genomes | Disease | Pedigree | Alleles
Journal Article
Journal of translational medicine, ISSN 1479-5876, 08/2019, Volume 17, Issue 1, pp. 269 - 269
Hearing loss (HL) is the most common disability of human senses characterized by a great allelic heterogeneity. GJB2 and TMPRSS3 are two well-known HL genes... 
Digenic inheritance | MEDICINE, RESEARCH & EXPERIMENTAL | GJB2 | High throughput sequencing | CONNEXINS | TMPRSS3 | DEAFNESS | MUTATIONS | EXPRESSION | ONSET | Hearing loss | IMPAIRMENT | Health counseling | Analysis | Genetic screening | Medical genetics | Index Medicus
Journal Article