A Novel Mutation in the FSH Receptor Inhibiting Signal Transduction and Causing Primary Ovarian Failure

Elaine Doherty, Pirjo Pakarinen, Aila Tiitinen, +4

The Journal of Clinical Endocrinology & Metabolism

GeneticsUnidentified MutationGynecologyFemale Reproductive SystemReproductive Biology +18

Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia

Janice M. Fullerton, Patricia Paprocki, Simon J. Foote, +3

Human Genetics

BiologyNorth-west TasmaniaPhylogeneticsMolecular EcologyMedicine +8

Identifying genes predisposing to atopic eczema☆☆☆★★★

Susan Forrest, Karen Dunn, Kate Elliott, +6

Journal of Allergy and Clinical Immunology

AllergyAtopic DermatitisGenetic EpidemiologyMolecular GeneticsMedicine

Spinal muscular atrophy: untangling the knot?

I. Biroš, Susan Forrest

Journal of Medical Genetics

GeneticsMolecular GeneticsSpine DeformityDisease Gene IdentificationSpinal Disorder +14

Human Flavin-Containing Monooxygenase Form 3:  cDNA Expression of the Enzymes Containing Amino Acid Substitutions Observed in Individuals with Trimethylaminuria

John R. Cashman, Yi‐An Bi, Jing Lin, +4

Chemical Research in Toxicology

GeneticsGenetic EpidemiologyHuman PolymorphismPathologyEscherichia Coli +21

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

John F. Bateman, Susanna Freddi, Shireen R. Lamand�, +7

Human Mutation

GeneticsMolecular BiologyNonsense-mediated Mrna InstabilityNucleic Acid Amplification TestMolecular Genetics +14

The –590C/T and –34C/T interleukin-4 promoter polymorphisms are not associated with atopic eczema in childhood

Kate Elliott, Elizabeth M. Fitzpatrick, David A. Hill, +11

Journal of Allergy and Clinical Immunology

AllergyAtopic DermatitisImmune Cell DevelopmentImmunodeficienciesGenetic Epidemiology +8

How to find all those mutations

Susan Forrest, Richard G.H. Cotton, Ulf Landegren, +1

Nature Genetics

Mutation-based TestingSomatic VariantMedicineGeneticsMolecular Biology +5

Spinocerebellar ataxia type 20

Elsdon Storey, Melanie A. Knight, Susan Forrest, +1

The Cerebellum

Neurological DisorderMedicineNeuroscienceNeurologyNeuropathology +1

Association Between Dependent Smoking and a Polymorphism in the Tyrosine Hydroxylase Gene in a Prospective Population-Based Study of Adolescent Health

Craig A. Olsson, Richard Anney, Susan Forrest, +5

Behavior Genetics

Tobacco ControlSubstance AbuseTyrosine Hydroxylase GeneTobacco UseAddiction +5