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List of works by Valentine Hyland

5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia ⬇️

scientific article published on September 1, 1988

A 5' flanking region of the metallothionein, MT2A, gene identifies two moderately frequent RFLPs.

scientific article

A Rapid Screening Method for the Detection of Mutations in the RET Proto-oncogene in Multiple Endocrine Neoplasia Type 2A and Familial Medullary Thyroid Carcinoma Families

scientific article published on 01 September 1994

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3

scientific article

A new DNA marker tightly linked to the fragile X locus (FRAXA).

scientific article published on December 1989

A new location for the human adenine phosphoribosyltransferase gene ( APRT ) distal to the haptoglobin ( HP ) and fra(16)(q23) ( FRAUD ) loci

article

A protocol for the identification and validation of novel genetic causes of kidney disease

scientific article published on 15 September 2015

ACHF249 [D22S14] detects a common PstI RFLP and maps at 22cen----22q13.1.

scientific article

Absence of MEN2A- or 2B-typeRETmutations in primary neuroblastoma tumour tissue

scientific article published on 01 August 1998

An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridizes with sequences at 11p15

article

Anonymous DNA probes to human chromosome 16 derived from a flow-purified library.

scientific article

Atypical HUS associated with severe, unexpected antibody-mediated rejection post kidney transplant.

scientific article

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy):an Australian perspective

article

Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project

scientific article

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

scientific article

Cytokine production by normal human monocytes: inter-subject variation and relationship to an IL-1 receptor antagonist (IL-1Ra) gene polymorphism

scientific article published on 01 February 1995

DNA elution from buccal cells stored on Whatman FTA Classic Cards using a modified methanol fixation method

scientific article published on 01 April 2009

Deletion analysis for Duchenne (and Becker) muscular dystrophy

scientific article published on 01 October 1989

Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis

scientific article published on 28 February 2018

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14

scientific article published on 07 June 2017

Effect of 24 months of recombinant growth hormone on height and body proportions in SHOX haploinsufficiency.

scientific article published in September 2003

Familial Growth and Skeletal Features Associated with SHOX Haploinsufficiency

scientific article published on 01 September 2003

Family and twin studies in systemic lupus erythematosus.

scientific article published in April 1997

Fine mapping of gene probes and anonymous DNA fragments to the long arm of chromosome 16

article

Genetic mapping of new RFLPs at Xq27–q28

scientific article published on 01 January 1991

Glucocorticoids differentially inhibit expression of the RET proto-oncogene.

scientific article published on January 1999

Height discordance in monozygotic females is not attributable to discordant inactivation of X-linked stature determining genes.

scientific article published in February 2001

Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate ⬇️

scientific article published on July 1, 2001

Human prostate-specific antigen (APS) is a member of the glandular kallikrein gene family at 19q13

scientific article

Increased frequency of the uncommon allele of a tumour necrosis factor alpha gene polymorphism in rheumatoid arthritis and systemic lupus erythematosus

article

Interleukin 4 is at 5q31 and interleukin 6 is at 7p15

scientific article published on 01 August 1988

Isolation of a human DNA sequence which spans the fragile X.

scientific article

Lack of association between an interleukin-1 receptor antagonist gene polymorphism and systemic lupus erythematosus

article

MOLECULAR DETECTION OF PROSTATE CELLS IN EJACULATE AND URETHRAL WASHINGS IN MEN WITH SUSPECTED PROSTATE CANCER

scientific article published on 01 April 1999

Mapping the human alpha globin gene complex to 16p13.2----pter

scientific article

Medullary thyroid carcinoma: Australian experience with genetic testing

scientific article published on January 1, 1992

Probe, VK5B, is located in the same interval as the autosomal dominant adult polycystic kidney disease locus, PKD1

scientific article published on 01 February 1990

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scientific article published on 01 September 1997

Regulation of adhesion molecule expression by human synovial microvascular endothelial cells in vitro.

scientific article

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes

scientific article

Secretory leucocyte proteinase inhibitor is produced by human articular cartilage chondrocytes and intervertebral disc fibrochondrocytes

scientific article published on 01 December 1993

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

scientific article published in July 2003

The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families

article

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