C. E. Browne

A complex medical phenotype in a patient with triplication of 2q12.3 to 2q13 characterized with oligonucleotide array CGH (2009)

Mercer, C.L., Browne, C.E., Barber, J.C.K., Maloney, V.K., Huang, S., Thomas, N.S., ...

We report an adult female with a left polycystic kidney, patent ductus arteriosus, left streak ovary, bicornuate uterus and deafness who presented with infertility. She has an intrachromosomal...

X chromosome loss and ageing (2007)

Russell, L.M., Strike, P., Browne, C.E., Jacobs, P.A.

The detection of a low level 45,X cell line during routine cytogenetic analysis in an adult female can be difficult to interpret. In the absence of recent information regarding loss of the X...

New case of "apple-peel" intestinal atresia and ocular anomalies with mosaic variegated aneuploidy (2003)

Bower, K. L., Dennis, N. R., Wellesley, D., Williams, C. P., Hodgkins, P., Tyreman, C., ...

Estimate of the prevalence of chromosome 15q11-q13 duplications (2003)

Thomas, N.S., Roberts, S.E., Browne, C.E.

New case of "apple-peel" intestinal atresia and ocular anomalies with mosaic variegated aneuploidy (2003)

Bower, K.L., Dennis, N.R., Wellesley, D., Williams, C.P., Hodgkins, P., Tyreman, C., ...

Estimate of the prevalence of chromosome 15q11-q13 duplications (2003)

Thomas, N.S., Roberts, S.E., Browne, C.E.

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders (2001)

Bolton, Patrick Farrar, Dennis, N.R., Browne, C.E., Thomas, N.S., Veltman, M.W.M., Thompson, R.J., ...

This study investigated the phenotypic manifestations of interstitial duplications of chromosome 15 that involve the Prader-Willi/Angelman syndrome critical region (PWACR). Twenty-one affected...

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders (2001)

Bolton, P.F., Dennis, N.R., Browne, C.E., Thomas, N.S., Veltman, M.W., Thompson, R.J., ...

This study investigated the phenotypic manifestations of interstitial duplications of chromosome 15 that involve the Prader-Willi/Angelman syndrome critical region (PWACR). Twenty-one affected...

Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH (2001)

Joyce, C.A., Dennis, N.R., Cooper, S., Browne, C.E.

The cause of mental retardation, present in approximately 3% of the population, is unexplained in the majority of cases. Recent reports have suggested that cryptic telomeric rearrangements resulting...

Molecular characterisation of interstitial duplications and triplications involving chromosome 15q11-q13 (2001)

Thomas, N.S., Roberts, S.E., Browne, C.E., Dennis, N.R., Jacobs, P.A.

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

Browne, C E, Dennis, N R, Maher, E, Long, F L, Nicholson, J C, Sillibourne, J, ...

We present the cytogenetic, molecular cytogenetic, and molecular genetic results on 20 unrelated patients with an interstitial duplication of the proximal long arm of chromosome 15. Multiple probes...

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

Browne, C E, Dennis, N R, Maher, E, Long, F L, Nicholson, J C, Sillibourne, J, ...

We present the cytogenetic, molecular cytogenetic, and molecular genetic results on 20 unrelated patients with an interstitial duplication of the proximal long arm of chromosome 15. Multiple probes...