Search Results - "Homfray, T."

Enhancement of phenotyping for fetal investigation using next‐generation sequencing by Mone, F., Homfray, T., Kagan, K. O., Kilby, M. D.

Get full text

Non‐immune fetal hydrops: etiology and outcome according to gestational age at diagnosis by Sileo, F. G., Kulkarni, A., Branescu, I., Homfray, T., Dempsey, E., Mansour, S., Thilaganathan, B., Bhide, A., Khalil, A.

“…ABSTRACT Objective Fetal hydrops is associated with increased perinatal morbidity and mortality. The etiology and outcome of fetal hydrops may differ according…”
Get full text

A report on the impact of rapid prenatal exome sequencing on the clinical management of 52 ongoing pregnancies: a retrospective review by Dempsey, E, Haworth, A, Ive, L, Dubis, R, Savage, H, Serra, E, Kenny, J, Elmslie, F, Greco, E, Thilaganathan, B, Mansour, S, Homfray, T, Drury, S

“…Objective Studies have shown that prenatal exome sequencing (PES) improves diagnostic yield in cases of fetal structural malformation. We have retrospectively…”
Get full text

Counseling in fetal medicine: agenesis of the corpus callosum by Santo, S., D'Antonio, F., Homfray, T., Rich, P., Pilu, G., Bhide, A., Thilaganathan, B., Papageorghiou, A. T.

“…In this Review, we aim to provide up‐to‐date and evidence‐based answers to common questions regarding the diagnosis and prognosis of prenatally detected…”
Get full text

Fetal hydrops and the Incremental yield of Next‐generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta‐analysis by Mone, F., Eberhardt, R. Y., Hurles, M. E., Mcmullan, D. J., Maher, E. R., Lord, J., Chitty, L. S., Dempsey, E., Homfray, T., Giordano, J. L., Wapner, R. J., Sun, L., Sparks, T. N., Norton, M. E., Kilby, M. D.

“…ABSTRACT Objective To determine the incremental yield of exome sequencing (ES) over chromosomal microarray analysis (CMA) or karyotyping in prenatally…”
Get full text

Diagnosis of fetal abnormalities using exome sequencing: translating research into practice by Dempsey, E., Pryce, J., Thilaganathan, B., Mansour, S., Homfray, T., Drury, S.

Get full text

Outcome of prenatally diagnosed agenesis of the corpus callosum by Fratelli, N., Papageorghiou, A. T., Prefumo, F., Bakalis, S., Homfray, T., Thilaganathan, B.

“…Objective To investigate the natural history, associated abnormalities and outcome in fetuses diagnosed prenatally with agenesis of the corpus callosum (ACC)…”
Get full text

Posterior fossa malformation in fetuses: a report of 56 further cases and a review of the literature by Forzano, F., Mansour, S., Ierullo, A., Homfray, T., Thilaganathan, B.

“…Objective The purposes of this study were to determine the outcome of fetuses diagnosed as having a posterior fossa abnormality (PFA) and to find out if there…”
Get full text

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist by de Vries, B B A, White, S M, Knight, S J L, Regan, R, Homfray, T, Young, I D, Super, M, McKeown, C, Splitt, M, Quarrell, O W J, Trainer, A H, Niermeijer, M F, Malcolm, S, Flint, J, Hurst, J A, Winter, R M

“…BACKGROUND Submicroscopic subtelomeric chromosome defects have been found in 7.4% of children with moderate to severe mental retardation and in 0.5% of…”
Get full text

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500) by Wuyts, Wim, Cleiren, Erna, Homfray, Tessa, Rasore-Quartino, Alberto, Vanhoenacker, Filip, Van Hul, Wim

“…Foramina parietalia permagna (FPP) (OMIM 168500) is caused by ossification defects in the parietal bones. Recently, it was shown that loss of function…”
Get full text

Outcome of antenatally diagnosed talipes equinovarus in an unselected obstetric population by Bakalis, S., Sairam, S., Homfray, T., Harrington, K., Nicolaides, K., Thilaganathan, B.

“…Objective To investigate the natural history and outcome of fetal talipes diagnosed by routine ultrasound scanning at 18–23 weeks' gestation. Patients and…”
Get full text

P44.17: Second trimester prenatal diagnosis of Cornelia de Lange Syndrome, identification of limb abnormalites with a sinister cause by Homfray, T. F. R., Bhide, A., Jeffery, I., Bower, S.

Get full text

Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics by Barwell, J, Pangon, L, Hodgson, S, Georgiou, A, Kesterton, I, Slade, T, Taylor, M, Payne, S J, Brinkman, H, Smythe, J, Sebire, N J, Solomon, E, Docherty, Z, Camplejohn, R, Homfray, T, Morris, J R

“…Background: Reports of differential mutagen sensitivity conferred by a defect in the mismatch repair (MMR) pathway are inconsistent in their conclusions…”
Get full text

Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene by Hagan, D.M., Ross, A.J., Strachan, T., Lynch, S.A., Ruiz-Perez, V., Wang, Y.M., Scambler, P., Custard, E., Reardon, W., Hassan, S., Muenke, M., Nixon, P., Papapetrou, C., Winter, R.M., Edwards, Y., Morrison, K., Barrow, M., Cordier-Alex, M.P., Correia, P., Galvin-Parton, P.A., Gaskill, S., Gaskin, K.J., Garcia-Minaur, S., Gereige, R., Hayward, R., Homfray, T., McKeown, C., Murday, V., Plauchu, H., Shannon, N., Spitz, L., Lindsay, S.

“…The HLXB9 homeobox gene was recently identified as a locus for autosomal dominant Currarino syndrome, also known as hereditary sacral agenesis (HSA). This gene…”
Get full text

Point Mutations Throughout the GLI3 Gene Cause Greig Cephalopolysyndactyly Syndrome by Kalff-Suske, Martha, Wild, Anja, Topp, Juliane, Wessling, Martina, Jacobsen, Eva-Maria, Bornholdt, Dorothea, Engel, Hartmut, Heuer, Heike, Aalfs, Cora M., Ausems, Margreet G. E. M., Barone, Rita, Herzog, Andreas, Heutink, Peter, Homfray, Tessa, Gillessen-Kaesbach, Gabriele, König, Rainer, Kunze, Jürgen, Meinecke, Peter, Müller, Dietmar, Rizzo, Renata, Strenge, Sibylle, Superti-Furga, Andrea, Grzeschik, Karl-Heinz

“…Greig cephalopolysyndactyly syndrome, characterized by craniofacial and limb anomalies (GCPS; MIM 175700), previously has been demonstrated to be associated…”
Get full text

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype? by DE VRIES, BERT B A, KNIGHT, SAMANTHA J L, HOMFRAY, TESSA, SMITHSON, SARAH F, FLINT, JONATHAN, WINTER, ROBIN M

Get full text

The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report by Cook, K., Prefumo, F., Presti, F., Homfray, T., Campbell, S.

“…A case of Binder syndrome was diagnosed at 21 weeks of gestation using two‐dimensional and three‐dimensional ultrasound. The first indication of any…”
Get full text

Late onset microcephaly: failure of prenatal diagnosis by Schwärzler, P., Homfray, T., Bernard, J.‐P., Bland, J. M., Ville, Y.

“…We present a case of recurrent primary developmental microcephaly of late onset, the prenatal diagnosis of which could not be achieved despite performing…”
Get full text

Defects in mismatch repair occur after APC mutations in the pathogenesis of sporadic colorectal tumours by Homfray, TFR, Cottrell, SE, Ilyas, M, Rowan, A, Talbot, IC, Bodmer, WF, Tomlinson, IPM

“…The roles of the intrinsic mutation rate and genomic instability in tumorigenesis are currently controversial. In most colorectal tumours, it is generally…”
Get full text

Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas by Beck, N E, Tomlinson, I P M, Homfray, T F R, Frayling, I M, Hodgson, S V, Bodmer, W F

“…Background—The hereditary non-polyposis colorectal cancer (HNPCC) syndrome is caused by germline mutations in mismatch repair genes and predisposes individuals…”
Get full text