Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

M. W. Partington, K Fagan, V Soubjaki, +1

Journal of Medical Genetics

Brain DevelopmentGeneticsPathologyMolecular GeneticsDosage Effect +15

Ring chromosome 11 and café‐au‐lait spots

K Fagan, Graeme Suthers, G. Hardacre

American Journal of Medical Genetics

Anal anomalies: an uncommon feature of velocardiofacial (Shprintzen) syndrome?

S. Worthington, Andrew Colley, K Fagan, +2

Journal of Medical Genetics

Developmental AnomalyCardiovascular DiseaseMedicineCardiac AnomaliesDiagnosis +8

The t(4;8) is mediated by homologous recombination between olfactory receptor gene clusters, but other 4p16 translocations occur at random.

Nicole Maas, Steven Van Vooren, Femke Hannes, +12

PubMed

Other 4P16GeneticsMolecular BiologyMolecular GeneticsEpigenetics +16

A summary of 7q interstitial deletions and exclusion mapping of the gene for beta-glucuronidase.

K Fagan, A Gill, Rema J. Henry, +2

Journal of Medical Genetics

Gene Deletion DataInterstitial DeletionsGeneticsGlycobiologyMolecular Biology +17

Localization of the human UbB polyubiquitin gene to chromosome band 17p11.1-17p12.

Graham C. Webb, Rohan T. Baker, K Fagan, +1

PubMed

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

Anne Ronan, K Fagan, Louise Christie, +3

BMJ Case Reports

Down SyndromeFamilial 4.3Developmental AnomalyMendelian DisorderCytogenetics +12

A new interstitial deletion of 4q (q21.1::q22.1).

K Fagan, A Gill

Journal of Medical Genetics

Developmental AnomalyGene Deletion DataDevelopmental BiologyMendelian DisorderCytogenetics +12

An interstitial deletion of chromosome 7(q35).

K Fagan, Catriona Kennedy, L Roddick, +1

Journal of Medical Genetics