Search Results - "STANIER, P"

Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts by Stanier, Philip, Moore, Gudrun E.

“…Clefts of the lip and/or palate (CL/P) are among the most common birth defects worldwide. The majority are non-syndromic where CL/P occurs in isolation of…”
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Limited Evolutionary Conservation of Imprinting in the Human Placenta by Monk, D., Arnaud, P., Apostolidou, S., Hills, F. A., Kelsey, G., Stanier, P., Feil, R., Moore, G. E.

“…The epigenetic phenomenon of genomic imprinting provides an additional level of gene regulation that is confined to a limited number of genes, frequently, but…”
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The genetic aetiology of Silver-Russell syndrome by Abu-Amero, S, Monk, D, Frost, J, Preece, M, Stanier, P, Moore, G E

“…Silver-Russell syndrome (SRS MIM180860) is a disorder characterised by intrauterine and/or postnatal growth restriction and typical facies. However, the…”
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Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss‐of‐function vs missense variants by Savastano, C.P., Brito, L.A., Faria, Á.C., Setó‐Salvia, N., Peskett, E., Musso, C.M., Alvizi, L., Ezquina, S.A.M., James, C., GOSgene, Beales, P., Lees, M., Moore, G.E., Stanier, P., Passos‐Bueno, M.R.

“…Non‐syndromic cleft lip with or without cleft palate (NSCL/P) is a prevalent, complex congenital malformation. Genome‐wide association studies (GWAS) on NSCL/P…”
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A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly by Ishida, M., Cullup, T., Boustred, C., James, C., Docker, J., English, C., Lench, N., Copp, A.J., Moore, G.E., Greene, N.D.E., Stanier, P.

“…Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong…”
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Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family by Seselgyte, R., Bryant, D., Demetriou, C., Ishida, M., Peskett, E., Moreno, N., Morrogh, D., Sell, D., Lees, M., Farrall, M., Moore, G.E., Sommerlad, B., Pauws, E., Stanier, P.

“…This study investigated the genetic basis of an unusual autosomal dominant phenotype characterized by familial absent uvula, with a short posterior border of…”
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Genome-wide methylation analysis in Silver–Russell syndrome patients by Prickett, A. R., Ishida, M., Böhm, S., Frost, J. M., Puszyk, W., Abu-Amero, S., Stanier, P., Schulz, R., Moore, G. E., Oakey, R. J.

“…Silver–Russell syndrome (SRS) is a clinically heterogeneous disorder characterised by severe in utero growth restriction and poor postnatal growth, body…”
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Cleft Lip with Cleft Palate, Ankyloglossia, and Hypodontia are Associated with TBX22 Mutations by Kantaputra, P.N., Paramee, M., Kaewkhampa, A., Hoshino, A., Lees, M., McEntagart, M., Masrour, N., Moore, G.E., Pauws, E., Stanier, P.

“…X-linked cleft palate and ankyloglossia (CPX) are caused by mutations in the TBX22 transcription factor. To investigate whether patients with ankyloglossia…”
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Imprinting of IGF2 P0 transcript and novel alternatively spliced INS-IGF2 isoforms show differences between mouse and human by Monk, D., Sanches, R., Arnaud, P., Apostolidou, S., Hills, F.A., Abu-Amero, S., Murrell, A., Friess, H., Reik, W., Stanier, P., Constância, M., Moore, G.E.

“…Genomic imprinting is limited to a subset of genes that play critical roles in fetal growth, development and behaviour. One of the most studied imprinted genes…”
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Elevated placental expression of the imprinted PHLDA2 gene is associated with low birth weight by APOSTOLIDOU, S, ABU-AMERO, S, O'DONOGHUE, K, FROST, J, OLAFSDOTTIR, O, CHAVELE, K. M, WHITTAKER, J. C, LOUGHNA, P, STANIER, P, MOORE, G. E

“…The identification of genes that regulate fetal growth will help establish the reasons for intrauterine growth restriction. Most autosomal genes are expressed…”
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A functional haplotype variant in the TBX22 promoter is associated with cleft palate and ankyloglossia by Pauws, E, Moore, G E, Stanier, P

“…Mutations in the T-box transcription factor gene TBX22 are found in patients with X-linked cleft palate and ankyloglossia (CPX), and are reported in…”
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X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations by Pauws, E, Peskett, E, Boissin, C, Hoshino, A, Mengrelis, K, Carta, E, Abruzzo, MA, Lees, M, Moore, GE, Erickson, RP, Stanier, P

“…X‐linked cleft palate (CPX) is caused by mutations in the gene encoding the TBX22 transcription factor and is known to exhibit phenotypic variability, usually…”
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Autosomal-dominant Ankyloglossia and Tooth Number Anomalies by Acevedo, A.C., da Fonseca, J.A.C., Grinham, J., Doudney, K., Gomes, R.R., de Paula, L.M., Stanier, P.

“…Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic lingual frenulum. It frequently accompanies X-linked cleft palate…”
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Imprinted genes and their role in human fetal growth by Abu-Amero, S, Monk, D, Apostolidou, S, Stanier, P, Moore, G

“…Growth is defined as the progressive increase in size and is listed as one of the eight main characteristics of life. In human gestation the most rapid growth…”
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TBX22 mutations are a frequent cause of cleft palate by Marçano, A C B, Doudney, K, Braybrook, C, Squires, R, Patton, M A, Lees, M M, Richieri-Costa, A, Lidral, A C, Murray, J C, Moore, G E, Stanier, P

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Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects by Doudney, K., Grinham, J., Whittaker, J., Lynch, S.A., Thompson, D., Moore, G.E., Copp, A.J., Greene, N.D.E., Stanier, P.

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Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions by Hitchins, Megan P, Stanier, Philip, Preece, Michael A, Moore, Gudrun E

“…The main features of Silver-Russell syndrome (SRS) are pre- and postnatal growth restriction and a characteristic small, triangular face. SRS is also…”
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Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients by Doudney, K., Moore, G.E., Stanier, P., Ybot-Gonzalez, P., Paternotte, C., Greene, N.D.E., Copp, A.J., Stevenson, R.E.

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Evidence That Insulin is Imprinted in the Human Yolk Sac by Moore, G E, Abu-Amero, S N, Bell, G, Wakeling, E L, Kingsnorth, A, Stanier, P, Jauniaux, E, Bennett, S T

“…Evidence That Insulin is Imprinted in the Human Yolk Sac Gudrun E. Moore , Sayeda N. Abu-Amero , Gill Bell , Emma L. Wakeling , Amanda Kingsnorth , Philip…”
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Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome by Monk, D, Bentley, L, Beechey, C, Hitchins, M, Peters, J, Preece, M A, Stanier, P, Moore, G E

“…No sequence mutations were identified in the IMP3 coding region in 25 SRS cases screened. Since the gene had been shown not to exhibit monoallelic expression,…”
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