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Date: 1997
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186970
Description: Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome ... More
Reviewed: Reviewed
Date: 1997
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186987
Description: The Robin sequence is a pathogenetically and etiologically heterogeneous condition that can be a nonsyndromic anomaly or one feature of many syndromes. Little information is available regarding the di ... More
Reviewed: Reviewed
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Date: 1997
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/187091
Description: Reply to Eli Hatchwell's Letter to the Editor, "Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11". (http//dx.doi.org/10.1016/S0022-3476(97)70144-6)
Date: 1997
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186953
Description: The expression of serum amyloid A (SAA) protein, a major acute-phase reactant in most species, was examined by in situ hybridization in multiple organs of rabbit, mink and mouse. In livers of unstimul ... More
Reviewed: Reviewed
Date: 1996
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/187087
Description: 1 page(s)
Date: 1996
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186975
Description: In a patient with Hurler-Scheie syndrome, a type of mucopolysaccharidosis (1 H/S), an initial presentation was grouped papules on the extensor surfaces on the upper portions of the arms and legs. Othe ... More
Reviewed: Reviewed
Date: 1996
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186880
Description: Linkage analysis was performed on a large pedigree with an autosomal dominant platelet disorder and a striking propensity in affected family members to develop hematologic malignancy, predominantly ac ... More
Reviewed: Reviewed
Date: 1996
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186697
Description: A 16-year-old boy had intermittent chorea, delirium, and vertical gaze palsy precipitated by febrile illness. Nonketotic hyperglycinemia was confirmed by measurement of liver and lymphoblast glycine c ... More
Reviewed: Reviewed
Date: 1996
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186905
Description: Pulmonary complications are described in a case of Ehlers-Danlos syndrome type IV, established by studies of collagen biosynthesis. At age 20.5 years the patient, who had previously suffered a spontan ... More
Reviewed: Reviewed
Date: 1995
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186703
Description: Interstitial deletions in chromosome 22 and features associated with CATCH-22 syndrome have been reported in patients with conotruncal congenital head anomalies. Absent pulmonary valve syndrome is cha ... More
Reviewed: Reviewed
Date: 1995
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/187067
Description: Detection of mutant human genes is rapidly becoming an integral part of clinical practice. Human disease may arise by genetic deletion, insertion, fusion, point mutation, or amplification of unstable ... More
Date: 1995
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/187064
Description: 4 page(s)
Date: 1995
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186680
Description: We have characterized a 6-generation North American Caucasian kindred segregating one form of preaxial polydactyly type 2 (PPD-2). We demonstrate linkage to the 7q36 region and describe a submicroscop ... More
Reviewed: Reviewed
Date: 1994
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/186964
Description: Phenylketonuria (PKU) is a genetic disorder of amino acid metabolism that is associated with brain catecholamine depletion and deficient myelination. Although neuropsychological deficits have been doc ... More
Reviewed: Reviewed
Date: 1994
Language: eng
Resource Type: journal article
Identifier: http://hdl.handle.net/1959.14/187061