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Topic Review
ACP5 Gene
acid phosphatase 5, tartrate resistant
  • 973
  • 24 Dec 2020
Topic Review
G6PD Gene
Glucose-6-phosphate dehydrogenase
  • 973
  • 25 Dec 2020
Topic Review
Perrault Syndrome
Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. Neurological problems occur in some affected males and females.
  • 972
  • 24 Dec 2020
Topic Review
Focal Dermal Hypoplasia
Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability.
  • 972
  • 25 Dec 2020
Topic Review
Gorlin Syndrome
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a condition that affects many areas of the body and increases the risk of developing various cancerous and noncancerous tumors.
  • 972
  • 31 Dec 2020
Topic Review
B Chromosomes in Psalidodon scabripinnis Species Complex
B chromosomes are extra-genomic components of cells found in individuals and in populations of some eukaryotic organisms. They have been described since the first observations of chromosomes, but several aspects of their biology remain enigmatic. Despite being present in hundreds of fungi, plants, and animal species, only a small number of B chromosomes have been investigated through high-throughput analyses, revealing the remarkable mechanisms employed by these elements to ensure their maintenance. Populations of the Psalidodon scabripinnis species complex exhibit great B chromosome diversity, making them a useful material for various analyses.
  • 972
  • 15 Sep 2022
Topic Review
DCC Gene
DCC Netrin 1 Receptor: The DCC gene provides instructions for making a protein called the netrin-1 receptor, which is involved in the development of the nervous system. 
  • 971
  • 23 Dec 2020
Topic Review
Y Chromosome Infertility
Y chromosome infertility is a condition that affects the production of sperm and causes male infertility, which means it is difficult or impossible for affected men to father children.
  • 971
  • 24 Dec 2020
Topic Review
Klippel-Trenaunay Syndrome
Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.
  • 970
  • 23 Dec 2020
Topic Review
Adult Polyglucosan Body Disease
Adult polyglucosan body disease (APBD) is a condition that affects the nervous system. People with APBD typically first experience signs and symptoms related to the condition between ages 35 and 60. Initial symptoms of the disorder include numbness and tingling in the legs (peripheral neuropathy) and progressive muscle weakness and stiffness (spasticity). As a result, affected individuals can have an unsteady gait, poor balance, and an increased risk of falling.  
  • 970
  • 24 Dec 2020
Topic Review
Andermann Syndrome
Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) also occurs in most people with this disorder.
  • 970
  • 24 Dec 2020
Topic Review
X-linked Sideroblastic Anemia and Ataxia
X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males.  
  • 970
  • 24 Dec 2020
Topic Review
Essential Thrombocythemia
Essential thrombocythemia is a condition characterized by an increased number of platelets (thrombocythemia). Platelets (thrombocytes) are blood cells involved in blood clotting. While some people with this condition have no symptoms, others develop problems associated with the excess platelets.
  • 969
  • 25 Dec 2020
Topic Review
3-M Syndrome
3-M syndrome is a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux.
  • 968
  • 23 Dec 2020
Topic Review
COMP Gene
cartilage oligomeric matrix protein
  • 968
  • 24 Dec 2020
Topic Review
Pancreatic Cancer with Mutation
Pancreatic ductal adenocarcinoma (PDAC) is the seventh leading cause of cancer death worldwide; most of cases are sporadic, however about 5% to 10% report a hereditary predisposition. Several hereditary syndromes have been associated with familial pancreatic cancer (FPC) onset, including hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), Familial atypical multiple mole melanoma (FAMMM), Familial adenomatous polyposis (FAP), Li–Fraumeni syndrome (LFS), Peutz–Jeghers syndrome (PJS), and Hereditary pancreatitis (HP).
  • 968
  • 22 Feb 2022
Topic Review
FECH Gene
Ferrochelatase: The FECH gene provides instructions for making an enzyme known as ferrochelatase. 
  • 967
  • 25 Dec 2020
Topic Review
FLNA Gene
Filamin A
  • 967
  • 25 Dec 2020
Topic Review
FOXG1 Syndrome
FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of brain malformations that includes a thin or underdeveloped connection between the right and left halves of the brain (a structure called the corpus callosum), reduced folds and grooves (gyri) on the surface of the brain, and a smaller than usual amount of brain tissue known as white matter.
  • 967
  • 25 Dec 2020
Topic Review
Nakajo-Nishimura Syndrome
Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in infancy or early childhood, affected individuals develop red, swollen lumps (nodular erythema) on the skin that occur most often in cold weather; recurrent fevers; and elongated fingers and toes with widened and rounded tips (clubbing).
  • 966
  • 23 Dec 2020
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