L. Tyfield

发表

Experimental design: a useful tool for PCR Optimization.

J. Farrés, P. Briones, M. Boleda, 1996, BioTechniques.

A new human genetic resource: a DNA bank established as part of the Avon Longitudinal Study of Pregnancy and Childhood (ALSPAC)

S. Ring, M. Pembrey, J. Golding, 2000, European Journal of Human Genetics.

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

P. Guldberg, G. Bertorelle, F. Calì, 2003, Human mutation.

The relationship of genotype to cognitive outcome in galactosaemia

N. Marlow, E. Wadsworth, J. Shield, 2000, Archives of disease in childhood.

Clinical and histopathological heterogeneity in patients with 4q35 facioscapulohumeral muscular dystrophy (FSHD)

J. Lowe, P. Brennan, L. Tyfield, 2004, Neuropathology and applied neurobiology.

Animal models for histidinaemia

L. Tyfield, J. Holton, 1976 .

Sequence variation at the phenylalanine hydroxylase gene in the British Isles.

P. Harper, D. Pilz, J. Bidwell, 1997, American journal of human genetics.

Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. Medical Research Council Working Party on Phenylketonuria.

R. Surtees, S. Malcolm, L. Tyfield, 1993, BMJ.

HMSN and HNPP: Laboratory Service Provision in the South West of England‐Two Years' Experience

D. L. Stevens, P. Turnpenny, L. Tyfield, 1999, Annals of the New York Academy of Sciences.

Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans.

F. Güttler, A. Goltsov, L. Tyfield, 1995, American journal of human genetics.

RECOMMENDATIONS ON THE DIETARY-MANAGEMENT OF PHENYLKETONURIA

R. Surtees, B. M. Clark, S. Malcolm, 1993 .

Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals?

L. Tyfield, 1997, Molecular pathology : MP.

Prediction of multiple hypermutable codons in the human PAH gene: Codon 280 contains recurrent mutations in Quebec and other populations

L. Tyfield, C. Scriver, S. Byck, 1997, Human mutation.

Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations.

B. Dworniczak, L. Tyfield, C. Scriver, 1994, Human molecular genetics.

Molecular basis of phenylketonuria in an english population

M. Osborn, L. Tyfield, J. Holton, 1993 .

Biochemical control, genetic analysis and magnetic resonance imaging in patients with phenylketonuria

L. Tyfield, J. Walter, J. Holton, 1993, European Journal of Pediatrics.

Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England.

M. Osborn, L. Tyfield, J. Holton, 1991, Journal of medical genetics.

Genetic analysis of treated and untreated phenylketonuria in one family.

P. Harper, M. Osborn, L. Tyfield, 1990, Journal of medical genetics.

Identification of the haplotype pattern associated with the mutant PKU allele in the Gypsy population of Wales.

P. Harper, M. Osborn, L. Tyfield, 1989, Journal of medical genetics.

one family . untreated phenylketonuria in Genetic analysis of treated and

P. Harper, M. Osborn, L. Tyfield, 2022 .

Comparative multiplex dosage analysis detects whole exon deletions at the phenylalanine hydroxylase locus

S. Ring, L. Tyfield, M. Gable, 2003, Human mutation.

Mannose-binding lectin alleles in a prospectively recruited UK population

M. Pembrey, D. Jack, M. Turner, 1997, The Lancet.

Classical galactosemia and mutations at the galactose‐1‐phosphate uridyl transferase (GALT) gene

J. Reichardt, L. Elsas, G. Novelli, 1999, Human mutation.

The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations

H. Waterham, G. Bertorelle, J. Reichardt, 2010, Heredity.

Mutational spectrum of classical galactosaemia in Spain and Portugal

I. Rivera, M. L. Cardoso, L. Vilarinho, 2006, Journal of Inherited Metabolic Disease.

Late onset immune pancytopenia following bone marrow transplantation

M. McMullin, P. Mahendra, L. Tyfield, 1991, British journal of haematology.

Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.

L. Tyfield, D. Bishop, P. Cotter, 1994, Journal of medical genetics.

Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany

F. Güttler, J. Zschocke, L. Tyfield, 2007, Human mutation.

Serum thyroxine and thyroid stimulating hormone concentrations after treatment of congenital hypothyroidism.

L. Tyfield, D. Savage, S. Abusrewil, 1988, Archives of disease in childhood.

Persistent hyperthyrotropinaemia since the neonatal period in clinically euthyroid children

L. Tyfield, D. Savage, S. Jones, 1991, European Journal of Pediatrics.

Mannose-binding lectin alleles in a prospectively recruited UK population. The ALSPAC Study Team. Avon Longitudinal Study of Pregnancy and Childhood.

M. Pembrey, D. Jack, M. Turner, 1997, Lancet.

De novo DNA rearrangement in atypical facioscapulohumeral muscular dystrophy

M. Upadhyaya, L. Tyfield, P. Lunt, 1993, Clinical genetics.

Is zygosity or chorionicity the main determinant of fetal outcome in twin pregnancies?

L. Tyfield, S. Carroll, P. Soothill, 2005, American journal of obstetrics and gynecology.

Is Zygosity or Chorionicity the Main Determinant of Fetal Outcome in Twin Pregnancies

L. Tyfield, S. Carroll, P. Soothill, 2006 .

Prenatal Diagnosis of Inherited Metabolic Diseases

L. Tyfield, J. Holton, 1994 .

DNA heteroduplex technology.

J. Bidwell, A. Chrambach, L. Tyfield, 1994 .

Rapid classification of phenylketonuria genotypes by analysis of heteroduplexes generated by PCR‐amplifiable synthetic DNA

J. Bidwell, L. Tyfield, N. Wood, 1993, Human mutation.

Alterations in sulphur-containing amino acids in rat brain extracts on storage.

L. Tyfield, J. Holton, 1973, Clinica chimica acta; international journal of clinical chemistry.