Search Results - "Amor, D.J"

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals by Bijlsma, E.K, Gijsbers, A.C.J, Schuurs-Hoeijmakers, J.H.M, van Haeringen, A, Fransen van de Putte, D.E, Anderlid, B.-M, Lundin, J, Lapunzina, P, Pérez Jurado, L.A, Delle Chiaie, B, Loeys, B, Menten, B, Oostra, A, Verhelst, H, Amor, D.J, Bruno, D.L, van Essen, A.J, Hordijk, R, Sikkema-Raddatz, B, Verbruggen, K.T, Jongmans, M.C.J, Pfundt, R, Reeser, H.M, Breuning, M.H, Ruivenkamp, C.A.L

“…Abstract Array CGH (comparative genomic hybridization) screening of large patient cohorts with mental retardation and/or multiple congenital anomalies (MR/MCA)…”
Get full text

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients by Roscioli, T., Elakis, G., Cox, T.C., Moon, D.J., Venselaar, H., Turner, A.M., Le, T., Hackett, E., Haan, E., Colley, A., Mowat, D., Worgan, L., Kirk, E.P., Sachdev, R., Thompson, E., Gabbett, M., McGaughran, J., Gibson, K., Gattas, M., Freckmann, M-L., Dixon, J., Hoefsloot, L., Field, M., Hackett, A., Kamien, B., Edwards, M., Adès, L.C., Collins, F.A., Wilson, M.J., Savarirayan, R., Tan, T.Y., Amor, D.J., McGIllivray, G., White, S.M., Glass, I.A., David, D.J., Anderson, P.J., Gianoutsos, M., Buckley, M.F.

“…Craniosynostosis is one of the most common craniofacial disorders encountered in clinical genetics practice, with an overall incidence of 1 in 2,500. Between…”
Get full text

Russell–Silver syndrome due to paternal H19 / IGF2 hypomethylation in a patient conceived using intracytoplasmic sperm injection by Chopra, M, Amor, D.J, Sutton, L, Algar, E, Mowat, D

“…Abstract Epigenetic alterations at several maternal loci have been associated with imprinting disorders in children conceived using assisted reproductive…”
Get full text

Cascade carrier testing for cystic fibrosis: an Australian experience by McClaren, B.J, Aitken, M.A, Massie, R.J, Metcalfe, S.A, Amor, D.J

Get full text

Looking downstream: a review of the literature on physical and psychosocial health outcomes in adolescents and young adults who were conceived by ART by Wilson, C.L., Fisher, J.R., Hammarberg, K., Amor, D.J., Halliday, J.L.

“…BACKGROUND The use of assisted reproductive technology (ART) is now well established in many countries and the first generations of offspring are reaching…”
Get full text

Preferences for results from genomic microarrays: comparing parents and health care providers by Turbitt, E., Halliday, J.L., Amor, D.J., Metcalfe, S.A.

“…Chromosomal microarray (CMA) testing is now performed frequently in paediatric care. Although CMAs improve diagnostic yields, they increase detection of…”
Get full text

Pregnancies conceived using assisted reproductive technologies (ART) have low levels of pregnancy-associated plasma protein-A (PAPP-A) leading to a high rate of false-positive results in first trimester screening for Down syndrome by Amor, D.J., Xu, J.X., Halliday, J.L., Francis, I., Healy, D.L., Breheny, S., Baker, H.W.G., Jaques, A.M.

“…BACKGROUND First trimester screening (FTS) for Down syndrome combines measurement of nuchal translucency, free beta-human chorionic gonadotrophin and…”
Get full text

Health and fertility of ICSI-conceived young men: study protocol by Catford, S R, Lewis, S, Halliday, J, Kennedy, J, O’Bryan, M K, McBain, J, Amor, D J, Rombauts, L, Saffery, R, Hart, R J, McLachlan, R I

“…Abstract STUDY QUESTIONS What are the long-term health and reproductive outcomes for young men conceived using ICSI whose fathers had spermatogenic failure…”
Get full text

Cole-Carpenter Syndrome - A case report by Amor, D.J., Bankier, A.

Get full text