Two cases of X/autosome translocation in females with incontinentia pigmenti

Shirley V. Hodgson, Brian Neville, Richard W. Jones, +2

Human Genetics

InfertilityUrologyVulvar DiseasesVoiding DysfunctionPelvic Prolapse +5

Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion

SV Hodgson, M. E. Robertson, Claudine Fear, +5

Human Genetics

Developmental AnomalyGenetic DisorderGynecologyPrenatal DiagnosisMental Retardation +5

Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome)

Mary J. Seller, Teresa B. Davis, Claudine Fear, +3

American Journal of Medical Genetics

Prenatal Testosterone Levels in XXY and XYY Males

S G Ratcliffe, Graham Read, Huiqi Pan, +3

Hormone Research

FertilityWeeks GestationGeneticsReproductive HealthReproductive Biology +18

Combined QF‐PCR and MLPA molecular analysis of miscarriage products: an efficient and robust alternative to karyotype analysis

Celia Donaghue, Kathy Mann, Zoe Docherty, +3

Prenatal Diagnosis

Familial partial trisomy of the long arm of chromosome 3 (3q).

Claudine Fear, Allen Briggs

Archives of Disease in Childhood

Developmental AnomalyChromatinDevelopmental BiologyCytogeneticsGenetic Disorder +12

Two cases of interstitial deletion 1p.

Miinyuh Lai, M. F. Robards, Andrew C. Berry, +2

Journal of Medical Genetics

Karyotype ImagingDevelopmental AnomalyCytogeneticsMedicineGenetics +12

CHROMOSOME 15 IN PRADER‐WILLI SYNDROME

Claudine Fear, David Mutton, Andrew C. Berry, +2

Developmental Medicine & Child Neurology

Fluorescence in situ hybridization and Y ring chromosome

Robert Kozma, Claudine Fear, Matteo Adinolfí

Human Genetics

ChromatinCytogeneticsY Ring ChromosomeGeneticsMolecular Biology +6

A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23).

D J Shawe, Claudine Fear, W J Appleyard

Journal of Medical Genetics

CytogeneticsGeneticsMolecular GeneticsEpigeneticsCongenital Disorders +16