Lista de obras - Valentine Hyland - Dominio Público Uruguay

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

artículo científico publicado el 1 de septiembre de 1988

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

artículo científico publicado en 1987

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

artículo científico publicado en 1994

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 1988

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

artículo científico publicado en 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.

artículo científico publicado en 1988

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2000

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

artículo científico publicado en 1995

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

Familial Growth and Skeletal Features Associated with SHOX Haploinsufficiency

artículo científico publicado en 2003

Family and twin studies in systemic lupus erythematosus.

artículo científico publicado en 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

artículo científico publicado en 1991

Glucocorticoids differentially inhibit expression of the RET proto-oncogene.

artículo científico publicado en 1999

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

artículo científico publicado en 2001

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

artículo científico publicado el 1 de julio de 2001

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

artículo científico publicado en 1988

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.

artículo científico publicado en 1991

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

artículo científico publicado en 1999

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

artículo científico publicado en 1987

Medullary thyroid carcinoma: Australian experience with genetic testing

artículo científico publicado el 1 de enero de 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

Re

artículo científico publicado en 1997

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

artículo científico publicado en 1996

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

artículo científico publicado en 2004

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

artículo científico publicado en 2003

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

article

Lista de obras de Valentine Hyland

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Deletion analysis for Duchenne (and Becker) muscular dystrophy

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

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

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

Familial Growth and Skeletal Features Associated with SHOX Haploinsufficiency

Family and twin studies in systemic lupus erythematosus.

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

Genetic mapping of new RFLPs at Xq27–q28

Glucocorticoids differentially inhibit expression of the RET proto-oncogene.

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

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

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

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

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

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

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

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

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

Medullary thyroid carcinoma: Australian experience with genetic testing

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

Re

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

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

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

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

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