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The New England Journal of Medicine, ISSN 0028-4793, 10/2012, Volume 367, Issue 14, pp. 1321 - 1331
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2013, Volume 8, Issue 2, pp. e57460 - 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 | Hearing | Ethyl nitrosourea | Acids | Cellular biology | Aortic arch | Fibrosis | Ear | Ventricle | Mutation | Auditory defects | Retinoic acid | Hippocampus | Kidney transplantation | Anomalies | Index Medicus
Journal Article
Genetics in Medicine, ISSN 1098-3600, 10/2018, Volume 20, Issue 10, pp. 1284 - 1294
Journal Article
Nature Genetics, ISSN 1061-4036, 12/2002, Volume 32, Issue 4, pp. 614 - 621
Chuvash polycythemia is an autosomal recessive disorder that is endemic to the mid-Volga River region. We previously mapped the locus associated with Chuvash... 
VHL GENE | TRANSCRIPTIONAL ACTIVITY | INDUCIBLE FACTOR 1-ALPHA | PROLYL HYDROXYLATION | ERYTHROPOIESIS | HIPPEL-LINDAU-DISEASE | GENETICS & HEREDITY | TUMOR-SUPPRESSOR PROTEIN | HYPOXIA | HIF-ALPHA | ERYTHROCYTOSIS | Haplotypes | Polycythemia - genetics | Humans | Ligases - genetics | Homeostasis | Male | Mutation, Missense | Transferrin - genetics | Hypoxia-Inducible Factor 1, alpha Subunit | Oxygen - metabolism | Russia | DNA-Binding Proteins - metabolism | Erythropoietin - blood | Chromosomes, Human, Pair 3 | Germ-Line Mutation | Adult | Female | Receptors, Transferrin - genetics | Tumor Cells, Cultured | Ubiquitins - metabolism | Hypoxia-Inducible Factor 1 | Receptors, Transferrin - blood | Gene Frequency | Cells, Cultured | Gene Expression Regulation | Ligases - metabolism | Nuclear Proteins - metabolism | Transcription Factors - genetics | von Hippel-Lindau Disease - genetics | Nuclear Proteins - chemistry | DNA-Binding Proteins - chemistry | Transcription Factors - metabolism | Transferrin - analysis | Ubiquitin-Protein Ligases | Erythropoietin - genetics | Homozygote | Polycythemia - etiology | Pedigree | Adolescent | Alleles | Polycythemia - metabolism | Protein Binding | Von Hippel-Lindau Tumor Suppressor Protein | Tumor Suppressor Proteins | Amino Acid Substitution | Polycythemia | Physiological aspects | Genetic aspects | Research | Diagnosis | Genetic transcription | Risk factors | Index Medicus
Journal Article
by Koczkowska, Magdalena and Chen, Zhenbin and Chen, Yunjia and Callens, Tom and Gomes, Alicia and Sharp, Angela and Johnson, Sherrell and Hsiao, Meng-Chang and Balasubramanian, Meena and Barnett, Christopher P and Becker, Troy A and Ben-Shachar, Shay and Bertola, Debora R and Blakeley, Jaishri O and Burkitt-Wright, Emma M.M and Callaway, Alison and Crenshaw, Melissa and Cunha, Karin S and Cunningham, Mitch and D’Agostino, Maria D and Dahan, Karin and De Luca, Alessandro and Destrée, Anne and Dhamija, Radhika and Eoli, Marica and Evans, D. Gareth R and Galvin-Parton, Patricia and George-Abraham, Jaya K and Gripp, Karen W and Guevara-Campos, Jose and Hanchard, Neil A and Hernández-Chico, Concepcion and Immken, LaDonna and Janssens, Sandra and Jones, Kristi J and Keena, Beth A and Kochhar, Aaina and Liebelt, Jan and Martir-Negron, Arelis and Mahoney, Maurice J and Maystadt, Isabelle and McDougall, Carey and McEntagart, Meriel and Mendelsohn, Nancy and Miller, David T and Mortier, Geert and Morton, Jenny and Pappas, John and Plotkin, Scott R and Pond, Dinel and Rosenbaum, Kenneth and Rubin, Karol and Russell, Laura and Rutledge, Lane S and Saletti, Veronica and Schonberg, Rhonda and Schreiber, Allison and Seidel, Meredith and Siqveland, Elizabeth and Stockton, David W and Trevisson, Eva and Ullrich, Nicole J and Upadhyaya, Meena and van Minkelen, Rick and Verhelst, Helene and Wallace, Margaret R and Yap, Yoon-Sim and Zackai, Elaine and Zonana, Jonathan and Zurcher, Vickie and Claes, Kathleen and Martin, Yolanda and Korf, Bruce R and Legius, Eric and Messiaen, Ludwine M
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 69 - 87
Journal Article
Developmental Neuroscience, ISSN 0378-5866, 12/2018, Volume 40, Issue 4, pp. 337 - 343
Background: The pathophysiology of intraventricular hemorrhage (IVH) is multifactorial. This study attempts to identify genetic and clinical factors... 
MMP | Intraventricular hemorrhage | Pathogenesis | Growth factors | VEGF | MORTALITY | GENETIC-POLYMORPHISM | VARIANTS | PREMATURE-INFANTS | INJURY | DEVELOPMENTAL BIOLOGY | NEUROSCIENCES | BIRTH-WEIGHT INFANTS | FACTOR-V-LEIDEN | PLASMA | MORBIDITY | ENDOTHELIAL GROWTH-FACTOR | Index Medicus
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 05/2019
To characterize clinical characteristics and genotypes of patients in the ADVANCE study of 4000 L-scale alglucosidase alfa (NCT01526785), the largest... 
Journal Article
Human Mutation, ISSN 1059-7794, 03/2012, Volume 33, Issue 3, pp. 457 - 466
Journal Article