X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (9) 9
mice (7) 7
animals (5) 5
genetics (5) 5
humans (5) 5
medicine (5) 5
mutation (5) 5
mutations (5) 5
alleles (4) 4
chromosome deletion (4) 4
chromosomes (4) 4
defects (4) 4
genes (4) 4
genetics & heredity (4) 4
analysis (3) 3
biology (3) 3
congenital defects (3) 3
congenital heart disease (3) 3
developmental biology (3) 3
ethyl nitrosourea (3) 3
eye (3) 3
gene (3) 3
gene identification and analysis (3) 3
genetic aspects (3) 3
genetics of disease (3) 3
haploinsufficiency (3) 3
heart (3) 3
human genetics (3) 3
male (3) 3
molecular genetics (3) 3
monosomy 1p36 (3) 3
multidisciplinary sciences (3) 3
organogenesis (3) 3
pediatrics (3) 3
physicians (3) 3
research article (3) 3
science (3) 3
7p22 (2) 2
abnormalities, multiple - genetics (2) 2
amino acids (2) 2
animal models (2) 2
anogenital (2) 2
anomalies (2) 2
anorectal (2) 2
biochemistry & molecular biology (2) 2
cardiac (2) 2
cardiomyopathy (2) 2
cardiovascular diseases - genetics (2) 2
cell proliferation (2) 2
cellular biology (2) 2
child (2) 2
chromosomal deletions and duplications (2) 2
chromosomal disorders (2) 2
chromosome 1 (2) 2
clinical genetics (2) 2
cognitive ability (2) 2
congenital diaphragmatic-hernia (2) 2
congenital heart defects (2) 2
esophageal atresia - genetics (2) 2
extracellular matrix (2) 2
extracellular matrix proteins - genetics (2) 2
fraser-syndrome (2) 2
gata4 transcription factor - genetics (2) 2
gata4 transcription factor - metabolism (2) 2
gene deletion (2) 2
gene expression regulation, developmental (2) 2
genetic association studies (2) 2
genomes (2) 2
genomic hybridization (2) 2
genomics (2) 2
heart defects, congenital - genetics (2) 2
heart diseases (2) 2
hernia (2) 2
homozygote (2) 2
hospitals (2) 2
kidney - abnormalities (2) 2
kidneys (2) 2
mice, inbred c57bl (2) 2
mice, knockout (2) 2
model organisms (2) 2
morbidity (2) 2
morphogenesis (2) 2
mota syndrome (2) 2
mouse (2) 2
myelencephalic blebs (2) 2
nerve tissue proteins - genetics (2) 2
organism development (2) 2
phenotype (2) 2
repressor proteins - genetics (2) 2
retinoic acid (2) 2
rodents (2) 2
tetralogy of fallot (2) 2
tracheoesophageal fistula - genetics (2) 2
ventricle (2) 2
1p36 deletion syndrome (1) 1
1p36 deletions (1) 1
7p-deletion (1) 1
[ sdv.bc ] life sciences [q-bio]/cellular biology (1) 1
[sdv.bc]life sciences [q-bio]/cellular biology (1) 1
abnormalities (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


PLoS ONE, ISSN 1932-6203, 02/2013, Volume 8, Issue 2, p. e57460
Individuals with terminal and interstitial deletions of chromosome 1p36 have a spectrum of defects that includes eye anomalies, postnatal growth deficiency,... 
HEART | MENTAL-RETARDATION | GENE | RETINOIC ACID SYNTHESIS | SKI PROTOONCOGENE | MULTIDISCIPLINARY SCIENCES | MOUSE | CALRETININ IMMUNOREACTIVITY | DENTATE GYRUS | HISTONE DEACETYLASE | MONOSOMY 1P36 | Chromosome Deletion | Hippocampus - embryology | Mice, Inbred C57BL | Embryonic Development - genetics | Body Weight - drug effects | Repressor Proteins - genetics | Male | Hippocampus - drug effects | Body Weight - genetics | Cardiovascular Diseases - genetics | Nerve Tissue Proteins - genetics | Hearing Loss - genetics | Chromosomes - drug effects | Phenotype | Animals | Chromosomes - genetics | Alleles | Ethylnitrosourea | Mice | Chromosomes, Human, Pair 1 - genetics | Embryonic Development - drug effects | Neurons - drug effects | Abnormalities, Multiple - genetics | Chromosome Disorders - genetics | Embryonic development | Amino acids | Congenital heart disease | Seizures (Medicine) | Glutamate | Analysis | Heart | Glutamic acid | Brain | Pediatrics | Cardiomyopathy | Physicians | Genes | Cognitive ability | Otolaryngology | Ventricles (cerebral) | Arteries | Defects | Eye | Morphogenesis | Embryogenesis | Developmental stages | Arginine | Rodents | Genetics | Aorta | Heart diseases | Seizures | Hypoplasia | Kidneys | Organs | Hearing impairment | Chromosome 1 | Hearing loss | Embryonic growth stage | Medicine | Signaling | Ethyl nitrosourea | Acids | Cellular biology | Aortic arch | Fibrosis | Ear | Ventricle | Mutation | Auditory defects | Retinoic acid | Hippocampus | Kidney transplantation | Anomalies
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 07/2011, Volume 155, Issue 7, pp. 1729 - 1734
Cardiac malformations are commonly seen in individuals with terminal and interstitial deletions involving chromosome band 7p22. Although these malformations... 
Tetralogy of Fallot | Chromosome deletion | 7p22 | Genomic hybridization | Cardiac | Congenital heart defects | Heart | Polymerase chain reaction | chromosome 7 | Fluorescence in situ hybridization | Hybridization analysis | Data processing | genomics | Regulatory sequences | tetralogy of Fallot | Chromosomes | Morbidity
Journal Article
Development, ISSN 0950-1991, 08/2015, Volume 142, Issue 15, pp. 2564 - 2573
Journal Article
Journal Article
Application of Clinical Genetics, ISSN 1178-704X, 08/2015, Volume 8, pp. 189 - 200
Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are the most common terminal deletions in humans. Medical problems commonly caused by... 
Chromosome 1p36 | Chromosome deletion | 1p36 deletion syndrome | Monosomy 1p36 | Genetic aspects | Congenital heart disease | Genetic disorders | Analysis | Risk factors | Enzymes | Genomes | Mutation | Chromosomes | Genes
Journal Article
Disease models & mechanisms, ISSN 1754-8403, 09/2018, Volume 11, Issue 9, p. dmm031534
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2013, Volume 8, Issue 3, p. e58830
The FRAS1-related extracellular matrix 1 (FREM1) gene encodes an extracellular matrix protein that plays a critical role in the development of multiple organ... 
FRASER-SYNDROME | CONGENITAL DIAPHRAGMATIC-HERNIA | MYELENCEPHALIC BLEBS | VI COLLAGEN | MOTA SYNDROME | MULTIDISCIPLINARY SCIENCES | NG2 PROTEOGLYCAN | MUTATIONS | MODEL | MALFORMATION SYNDROMES | PROTEIN STABILITY CHANGES | Extracellular Matrix Proteins - deficiency | Molecular Sequence Data | Male | Mutation, Missense | Kidney Diseases - genetics | Congenital Abnormalities - genetics | Gene Expression Regulation, Developmental | Base Sequence | Lung - metabolism | Membrane Proteins - metabolism | Abnormalities, Multiple - genetics | Extracellular Matrix Proteins - metabolism | Amino Acid Sequence | Extracellular Matrix Proteins - chemistry | Lung - pathology | GATA4 Transcription Factor - metabolism | Genetic Association Studies | Kidney Diseases - congenital | Membrane Proteins - genetics | Extracellular Matrix Proteins - genetics | GATA4 Transcription Factor - genetics | Haploinsufficiency | Homozygote | Phenotype | Sequence Alignment | Animals | Kidney - abnormalities | Epistasis, Genetic | Alleles | Lung - embryology | Mice | Proteins | Hernia | Amino acids | Genetic aspects | Analysis | Pediatrics | Physicians | Congenital defects | Genes | Males | Anogenital | Defects | Eye | Missense mutation | Rodents | Genetics | Extracellular matrix | Matrix protein | Diaphragms | Kidneys | Anorectal | Medicine | Androgens | Ethyl nitrosourea | Mutagenesis | Anus | Lungs | Collagen | Rectum | Mutation | Laboratory animals | Retinoic acid | Microphthalmia
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2012, Volume 158A, Issue 7, pp. 1785 - 1787
Journal Article
PLoS ONE, 01/2014, Volume 9, Issue 1
Cardiovascular malformations and cardiomyopathy are among the most common phenotypes caused by deletions of chromosome 1p36 which affect approximately 1 in... 
Journal Article
PLoS ONE, 03/2013, Volume 8, Issue 3
The FRAS1-related extracellular matrix 1 (FREM1) gene encodes an extracellular matrix protein that plays a critical role in the development of multiple organ... 
Anogenital
Journal Article
The Application of Clinical Genetics, ISSN 1178-704X, 08/2015, Volume 2015, Issue default, pp. 189 - 200
Valerie K Jordan,1 Hitisha P Zaveri,2 Daryl A Scott1,2 1Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA;... 
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2013, Volume 4, Issue 1-2, pp. 20 - 26
Copy number variations (CNVs), either DNA gains or losses, have been found at common regions throughout the human genome. Most CNVs neither have a pathogenic... 
Paper | Esophageal atresia | VACTERL | Copy number variation | Chromosomal anomalies | VATER | Tracheoesophageal fistula
Journal Article
No results were found for your search.

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