D. Millar

发表

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

P. Stenson, D. Cooper, M. Mort, 2020, Human Genetics.

Inherited Factor VII Deficiency: Molecular Genetics and Pathophysiology

D. Cooper, D. Banner, A. Wacey, 1997, Thrombosis and Haemostasis.

Inherited Factor X Deficiency: Molecular Genetics and Pathophysiology

D. Cooper, D. Banner, A. Wacey, 1997, Thrombosis and Haemostasis.

The molecular genetic analysis of hemophilia A: a directed search strategy for the detection of point mutations in the human factor VIII gene.

M. Vidaud, U. Martinowitz, D. Millar, 1990, Blood.

Identification of an intronic regulatory element in the human protein C (PROC) gene

D. Cooper, N. Chuzhanova, D. Millar, 2000, Human Genetics.

A novel dysfunctional protein C (Protein C Padua 2) associated with a thrombotic tendency: substitution of Cys for Arg‐1 results in a strongly reduced affinity for binding of Ca++

V. Kakkar, P. Simioni, A. Girolami, 1993, British journal of haematology.

Antithrombin Mutation Database: 2nd (1997) Update

D. Cooper, D. Perry, S. Thein, 1997, Thrombosis and Haemostasis.

NTNG1 mutations are a rare cause of Rett syndrome

A. Clarke, D. Pilz, J. Christodoulou, 2006, American journal of medical genetics. Part A.

The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI

D. Cooper, V. Kakkar, B. Zoll, 1991, Human Genetics.

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

D. Cooper, D. Pilz, N. Chuzhanova, 2010, Human Genomics.

Prenatal exclusion of severe factor VII deficiency.

D. Cooper, H. Ariffin, D. Millar, 2003, Journal of pediatric hematology/oncology.

Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency.

D. Cooper, M. Krawczak, V. Kakkar, 1995, Journal of medical genetics.

clinically symptomatic protein C deficiency . factor V Leiden variant among people with Population differences in the frequency of the

D. Cooper, M. Krawczak, V. Kakkar, 2022 .

Variation of site-specific methylation patterns in the factor VIII (F8C) gene in human sperm DNA

D. Cooper, M. Krawczak, D. Millar, 1998, Human Genetics.

Recurrent deletion in the human antithrombin III gene.

D. Cooper, M. Krawczak, V. Kakkar, 1991, Blood.

Are there specific genetic risk factors for the different forms of ANCA-associated vasculitis?

J. Epplen, D. Millar, L. Arning, 2010, Annals of the rheumatic diseases.

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

E G Tuddenham, S. Bidichandani, J. Gitschier, 1994, Nucleic acids research.

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

F E Preston, P G Mori, S S Sommer, 1995, Blood.

Screening for inversions in the factor VIII (F8) gene causing severe haemophilia A

D. Cooper, V. Kakkar, D. Millar, 1994, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene

D. Cooper, M. Krawczak, D. Whitmore, 1990, Human Genetics.

PRENATAL DIAGNOSIS OF GLANZMANN'S THROMBASTHENIA

K. Nicolaides, C. Rodeck, B. Coller, 1985, The Lancet.

Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

D. Cooper, N. Chuzhanova, S. McKee, 2008, Genomic Medicine.

Molecular analysis of the genotype-phenotype relationship in factor VII deficiency

D. Cooper, M. Krawczak, U. Martinowitz, 2000, Human Genetics.

Application of PCR to the detection and analysis of point mutations in the human factor VIII gene

D. Cooper, V. Kakkar, E. Tuddenham, 1991 .

Characterisation of a functional intronic polymorphism in the human growth hormone (GHI) gene

D. Cooper, M. Horan, N. Chuzhanova, 2010, Human Genomics.

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis.

D. Cooper, V. Kakkar, J. Reiss, 1992, Genomics.

Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism

D. Cooper, V. Kakkar, D. Millar, 2004, Human Genetics.

Cyclin-dependent–like kinase 5 is required for pain signaling in human sensory neurons and mouse models

S. Di Giovanni, H. Leonard, T. Pizzorusso, 2020, Science Translational Medicine.

A gene conversion hotspot in the human growth hormone (GH1) gene promoter

D. Cooper, M. Krawczak, M. Horan, 2009, Human mutation.

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature

D. Cooper, M. Krawczak, M. Horan, 2003, Human mutation.

Human growth hormone 1 (GH1) gene expression: Complex haplotype‐dependent influence of polymorphic variation in the proximal promoter and locus control region

Michael Krawczak, Geraint Lewis, D. Cooper, 2003, Human mutation.

Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single‐strand conformation polymorphism analysis

D. Cooper, V. Kakkar, U. Martinowitz, 1993, Human mutation.

A novel missense mutation in the antithrombin III gene (Ser349→Pro) causing recurrent venous thrombosis

D. Cooper, V. Kakkar, D. Millar, 2005, Human Genetics.

Detection of a novel point mutation causing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII mRNA

D. Cooper, V. Kakkar, J. Reiss, 1990, Human Genetics.

A Novel Dysfunctional Growth Hormone Variant ( Ile 179 Met ) Exhibits a Decreased Ability to Activate the Extracellular Signal-Regulated Kinase Pathway

D. Cooper, M. Horan, J. Gregory, 2004 .

Molecular analysis of the genotype-phenotype relationship in factor X deficiency

D. Cooper, M. Krawczak, A. Wacey, 2000, Human Genetics.

Compound heterozygous protein C deficiency resulting in the presence of only the beta-form of protein C in plasma.

D. Cooper, P. Simioni, A. Girolami, 1996, Blood.

Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke

Yasmin, I. Hall, A. Wheatley, 2006, Human Genetics.

A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy.

D. Cooper, C. Rodeck, V. Kakkar, 1994, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Molecular genetic analysis of severe protein C deficiency

D. Cooper, V. Kakkar, S. Schulman, 2000, Human Genetics.

presence of only the beta-form of protein C in plasma Compound heterozygous protein C deficiency resulting in the

D. Cooper, P. Simioni, A. Girolami, 2011 .

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

S. Bidichandani, J. Gitschier, R. Schwaab, 1994, Nucleic acids research.

A Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti

J. Goodship, A. Clarke, C. Drögemüller, 2013, PloS one.

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

E G Tuddenham, S. Antonarakis, D. Cooper, 1994, Nucleic acids research.

Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus

D. Cooper, P. Jedlicka, D. Millar, 1990, Human Genetics.

Engineering proteins without primary sequence tryptophan residues: mutant trp repressors with aliphatic substitutions for tryptophan side chains.

P. Youderian, R. Hochstrasser, D. Millar, 1995, Gene.

A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway.

D. Cooper, M. Horan, J. Gregory, 2004, The Journal of clinical endocrinology and metabolism.

Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis

D. Cooper, V. Kakkar, A. Wacey, 1994, Human Genetics.