| Gilbert's syndrome | <syndrome> An inherited disorder that affects the way bilirubin in handled by the liver. Thought to be due to an inborn error of bilirubin metabolism. Symptoms include mild jaundice, weakness, fatigue, nausea and abdominal pain. (27 Sep 1997) |
|---|
| Breschet, Gilbert | <person> French anatomist, 1784-1845. See: Breschet's bones, Breschet's canals, Breschet's hiatus, Breschet's sinus, Breschet's vein. (05 Mar 2000) |
|---|---|
| gilbert | The unit of magnetomotive force or magnetic potential. Origin: W. Gilbert, English physicist, 1544-1603 (05 Mar 2000) |
| Gilbert, Nicholas | <person> French physician, 1858-1927. See: Gilbert's disease, Gilbert's syndrome. (05 Mar 2000) |
| gilbert's disease | A benign familial disorder, transmitted as an autosomal dominant trait. It is characterised by low-grade chronic hyperbilirubinaemia with considerable daily fluctuations of the bilirubin level. (12 Dec 1998) |
| Gilbert, Walter | <person> The coinventor of Maxam-Gilbert sequencing, which is a lab technique used to find the sequence of nucleotide bases of a nucleic acid (DNA or RNA). He is also known for his research on the intron-exon gene structure of eukaryotes. In 1980, he shared the Nobel Prize in Chemistry with Paul Berg, a biochemist. (09 Oct 1997) |
| Maxam Gilbert method | A method of DNA sequencing, based on the controlled degradation of a DNA fragment in a set of independent, nucleotide specific reactions. The resulting fragments have characteristic sizes depending on the sequence of the template, that can be resolved on a sequencing gel. Although no longer the main protocol, Maxam Gilbert sequencing still has advantages, for example for oligonucleotides or covalently modified DNA. See: dideoxy sequencing. (18 Nov 1997) |
| maxam-gilbert sequencing | A lab technique used to find out the sequence of nucleotide bases in a nucleic acid (a DNA or RNA molecule). The technique involves putting copies of the nucleic acid into separate test tubes, each of which contains a chemical that will cleave the molecule at a different base (either adenine, guanine, cytosine, or thymine or uracil (the last depending on whether it is DNA or RNA)). The result is that each of the test tubes contains fragments of the nucleic acid that all end at the same base, but at different points on the molecule where the base occurs. The contents of the test tubes are then separated by size with gel electrophoresis (one gel well per test tube, four total wells), the smallest fragments will travel the farthest and the largest will travel the least far from the well. The sequence can then be determined from the picture of the finished gel by noting the sequence of the marks on the gel and from which well they came from. (09 Oct 1997) |
| Maxim-Gilbert sequencing | <molecular biology> A method of sequencing DNA using dimethyl sulfate and hydrazinolysis. (05 Mar 2000) |
| Walter Gilbert | <person> The coinventor of Maxam-Gilbert sequencing, which is a lab technique used to find the sequence of nucleotide bases of a nucleic acid (DNA or RNA). He is also known for his research on the intron-exon gene structure of eukaryotes. In 1980, he shared the Nobel Prize in Chemistry with Paul Berg, a biochemist. (09 Oct 1997) |
| Forbes, Gilbert | <person> U.S. Paediatrician, *1915. See: Forbes' disease. (05 Mar 2000) |
| Aarskog-Scott syndrome | A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms. Synonym: Aarskog-Scott syndrome. (05 Mar 2000) |
| Aarskog syndrome | <syndrome> Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested. The family reported by Welch (1974) had affected males in 3 consecutive generations. Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion. Stretchable skin was present in the cases of Grier et al. (1983). Teebi et al. (1993) reported the case of an affected mother and 4 sons (including a pair of monozygotic twins) by 2 different husbands. They suggested that the manifestations were as severe in the mother as in the sons and that this suggested autosomal dominant inheritance. Actually, the mother seemed less severely affected, compatible with X-linked inheritance. Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip, curved linear dimple below the lower lip, hypertelorism, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, floppy ears, lop-ears,cleft lip/palate, shawl scrotum, saddle-bag scrotum, cryptorchidism, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligamentous laxity, osteochondritis dissecans, proximal finger joint hyperextensibility, flexed distal finger joints, genu recurvatum, flat feet, stretchable skin, cervical spine hypermobility, odontoid anomaly, macrocytic anaemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial pulmonary disease, sternal deformity. Inheritance: Sex-influenced autosomal dominant form, also X-linked form. (05 Aug 1998) |
| abdominal muscle deficiency syndrome | <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. (05 Mar 2000) |
| abstinence syndrome | <syndrome> A constellation of physiologic changes undergone by persons or animals who have become physically dependent on a drug or chemical due to prolonged use at elevated doses, but who are abruptly deprived of that substance. The abstinence syndrome varies with the drug to which dependence has developed. Generally the effects observed are in an opposite direction from those produced by the drug; e.g., the withdrawal syndrome from central nervous system depressants such as barbiturates and benzodiazepines consists of insomnia, restlessness, tremulousness, hallucinations, and, in the extreme, tonic-clonic convulsions which may prove fatal. The onset time and severity of the abstinence syndrome depend upon how rapidly the drug disappears from the body. (05 Mar 2000) |
| Achard syndrome | <syndrome> Arachnodactyly with small receding mandible, broad skull, and joint laxity limited to the hands and feet; genetics unclear. (05 Mar 2000) |