An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
A fibroblast growth factor receptor that regulates CHONDROCYTE growth and CELL DIFFERENTIATION. Mutations in the gene for fibroblast growth factor receptor 3 have been associated with ACHONDROPLASIA; THANATOPHORIC DYSPLASIA and NEOPLASTIC CELL TRANSFORMATION.
A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
Specific molecular sites or structures on cell membranes that react with FIBROBLAST GROWTH FACTORS (both the basic and acidic forms), their analogs, or their antagonists to elicit or to inhibit the specific response of the cell to these factors. These receptors frequently possess tyrosine kinase activity.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
Age of the biological father.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
The part of the face that is below the eye and to the side of the nose and mouth.
The protection of genetic information about an individual, family, or population group, from unauthorized disclosure.
NATIONAL LIBRARY OF MEDICINE service for health professionals and consumers. It links extensive information from the National Institutes of Health and other reviewed sources of information on specific diseases and conditions.
Insurance providing for payment of a stipulated sum to a designated beneficiary upon death of the insured.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Adverse or favorable selection bias exhibited by insurers or enrollees resulting in disproportionate enrollment of certain groups of people.
The principles of professional conduct concerning the rights and duties of the physician, relations with patients and fellow practitioners, as well as actions of the physician in patient care and interpersonal relations with patient families.
Clusters of topics that fall within the domain of BIOETHICS, the field of study concerned with value questions that arise in biomedicine and health care delivery.
Duties that are based in ETHICS, rather than in law.
The identification, analysis, and resolution of moral problems that arise in the care of patients. (Bioethics Thesaurus)
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
The principles of proper conduct concerning the rights and duties of the professional, relations with patients or consumers and fellow practitioners, as well as actions of the professional and interpersonal relations with patient or consumer families. (From Stedman, 25th ed)
The state or quality of being kind, charitable, or beneficial. (from American Heritage Dictionary of the English Language, 4th ed). The ethical principle of BENEFICENCE requires producing net benefit over harm. (Bioethics Thesaurus)
Component of the NATIONAL INSTITUTES OF HEALTH. It conducts and supports research into the mapping of the human genome and other organism genomes. The National Center for Human Genome Research was established in 1989 and re-named the National Human Genome Research Institute in 1997.
A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
The systematic study of the complete DNA sequences (GENOME) of organisms.
Eating an excess amount of food in a short period of time, as seen in the disorder of BULIMIA NERVOSA. It is caused by an abnormal craving for food, or insatiable hunger also known as "ox hunger".
Instruments or technological means of communication that reach large numbers of people with a common message: press, radio, television, etc.
The means of interchanging or transmitting and receiving information. Historically the media were written: books, journals, newspapers, and other publications; in the modern age the media include, in addition, radio, television, computers, and information networks.
Communication through a system of conventional vocal symbols.
The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.
A territory of northwest Canada, bounded on the north by the Arctic Ocean, on the south by British Columbia, and on the west by Alaska. Its capital is Whitehorse. It takes its name from the Yukon River, the Indian yu-kun-ah, meaning big river. (From Webster's New Geographical Dictionary, 1988, p1367 & Room, Brewer's Dictionary of Names, 1992, p608)
Educational institutions for individuals specializing in the field of medicine.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Educational institutions.
Organizations established by endowments with provision for future maintenance.
Individuals enrolled in a school of medicine or a formal educational program in medicine.
The functions and activities carried out by the U.S. Postal Service, foreign postal services, and private postal services such as Federal Express.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
A phenethylamine that is an isomer of EPHEDRINE which has less central nervous system effects and usage is mainly for respiratory tract decongestion.
Facilities for the preparation and dispensing of drugs.
Drugs whose drug name is not protected by a trademark. They may be manufactured by several companies.
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
A medical specialty concerned with the skin, its structure, functions, diseases, and treatment.
Techniques for using whole blood samples collected on filter paper for a variety of clinical laboratory tests.
Amounts charged to the patient as payer for medical services.
A measure of inpatient health facility use based upon the average number or proportion of beds occupied for a given period of time.
A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)