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Date: 1994
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186944
Description: Background: Missense germ-line mutations in the RET protooncogene are associated with multiple endocrine neoplasia type 2A (MEN 2A). Detection of these mutant alleles in kindred members predicts disea ... More
Reviewed: Reviewed
Date: 1994
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186810
Description: Serum amyloid A is an acute phase protein complexed to HDL as an apoprotein. The molecular weight is 11.4-12.5 kDa in different species and the protein has from 104 to 112 amino acids, without or with ... More
Reviewed: Reviewed
Date: 1993
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186668
Description: We report on a female with hypoplastic anemia and abnormally digitalized thumbs who presented with growth failure and novel osseous radiologic abnormalities. In addition to thumb anomalies, abnormalit ... More
Reviewed: Reviewed
Date: 1993
Subject Keyword: intra-abdominal mass | teratoma | twin
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186835
Description: Fetus-in-fetu is a rare condition presenting as a calcified intra- abdominal mass in the newborn infant. Over 50 cases of fetus-in-fetu have been reported since 1800. Karyotype analysis in 8 cases and ... More
Reviewed: Reviewed
Date: 1993
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186928
Description: The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who h ... More
Reviewed: Reviewed
Date: 1993
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186919
Description: The structure and expression of the gene encoding serum amyloid P (SAP) component of the Syrian hamster have been studied by isolation of cosmid clones, nucleotide sequence analyses, and quantitation ... More
Reviewed: Reviewed
Date: 1993
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186811
Description: Serum amyloid P (SAP), a phylogenetically conserved pentraxin, is an integral component of all amyloid deposits. Regulation of expression of SAP gene expression is quite different in two related hamst ... More
Reviewed: Reviewed
Date: 1993
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186932
Description: A phenotypically female infant with 46-XY chromosomes was found to have Smith-Lemli-Opitz syndrome, type II a rare congenital malformation syndrome with many features of the more common classic Smith- ... More
Reviewed: Reviewed
Date: 1992
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186898
Description: Branchio-oculo-facial syndrome, a recently delineated autosomal dominant condition, is characterized by branchial cleft sinuses, ocular anomalies, and unusual facial appearance. A patient with branchi ... More
Reviewed: Reviewed
Date: 1992
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186804
Description: Children with early treated phenylketonuria (ETPKU), a disorder associated with developmental dopamine depletion, were tested with a visual orienting paradigm to determine the existence of lateralized ... More
Reviewed: Reviewed
Date: 1992
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186929
Description: The Lowe (Oculocerebrorenal)syndrome is an X-linked disorder characterized by psychomotor retardation, hypotonia, congenital cateracts, glaucoma and renal tubular dysfunction. In this report we presen ... More
Reviewed: Reviewed
Date: 1991
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186858
Description: Complementary and genomic clones encoding the mRNA and gene for a protein in the Syrian hamster that is highly homologous to C-reactive protein (CRP) have been isolated and studied. Coding sequence of ... More
Reviewed: Reviewed
Date: 1991
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186981
Description: The fetal and maternal concentration of various plasma proteins alters during pregnancy. Cells in the livers of fetal hamsters accumulate serum amyloid A (SAA) and C-reactive protein (CRP) mRNA, major ... More
Reviewed: Reviewed
Date: 1991
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186829
Description: Total anomalous pulmonary venous connection (TAPVC) is a rare form of cyanotic congenital heart disease which, without surgical treatment, has a high mortality in the first year of life. Reports of fa ... More
Reviewed: Reviewed
Date: 1991
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186923
Description: Osteodysplastic primordial dwarfism, type II manifests typical skeletal features which have not previously been described in the radiographic literature. We present an infant with characteristic findi ... More
Reviewed: Reviewed