Search Results - "Bamforth, J S"

Cold-induced sweating syndrome: CISS1 and CISS2 Manifestations from infancy to adulthood. Four new cases by HAHN, A. F, WAALER, P. E, KVISTAD, P. H, BAMFORTH, J. S, MILES, J. H, MCLEOD, J. G, KNAPPSKOG, P. M, BOMAN, H

“…Cold-induced sweating syndrome (CISS), a rare autosomal recessive disorder, is genetically heterogeneous. Deficiency of the CRLF1 and the CLCF1 gene functions…”
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Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues by Nakabayashi, K, Makino, S, Minagawa, S, Smith, A C, Bamforth, J S, Stanier, P, Preece, M, Parker-Katiraee, L, Paton, T, Oshimura, M, Mill, P, Yoshikawa, Y, Hui, C C, Monk, D, Moore, G E, Scherer, S W

“…Initially the mouse Sgce gene (encoding sarcoglycan-epsilon) was identified as a maternally imprinted (paternally expressed) gene in a subtractive screening…”
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Use of Magnetic Resonance Imaging to Measure Facial Soft Tissue Depth by Pluym, J. Vander, Shan, W. W., Taher, Z., Beaulieu, C., Plewes, C., Peterson, A. E., Beattie, O. B., Bamforth, J. S.

“…Objective: To investigate the feasibility of using magnetic resonance imaging to estimate facial tissue depth at standard anthropological facial landmarks…”
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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44 by Ballif, Blake C., Rosenfeld, Jill A., Traylor, Ryan, Theisen, Aaron, Bader, Patricia I., Ladda, Roger L., Sell, Susan L., Steinraths, Michelle, Surti, Urvashi, McGuire, Marianne, Williams, Shelley, Farrell, Sandra A., Filiano, James, Schnur, Rhonda E., Coffey, Lauren B., Tervo, Raymond C., Stroud, Tracy, Marble, Michael, Netzloff, Michael, Hanson, Kristen, Aylsworth, Arthur S., Bamforth, J. S., Babu, Deepti, Niyazov, Dmitriy M., Ravnan, J. Britt, Schultz, Roger A., Lamb, Allen N., Torchia, Beth S., Bejjani, Bassem A., Shaffer, Lisa G.

“…Microdeletions of 1q43q44 result in a recognizable clinical disorder characterized by moderate to severe intellectual disability (ID) with limited or no…”
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Congenital hypothyroidism, spiky hair, and cleft palate by Bamforth, J S, Hughes, I A, Lazarus, J H, Weaver, C M, Harper, P S

“…Two brothers are described with athyroidal hypothyroidism, spiky hair, choanal atresia, cleft palate, and bifid epiglottis. Polyhydramnios was present in the…”
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Vitiligo-spasticity syndrome: new case by Bamforth, J S

“…Vitiligo-spastic syndrome is a very characteristic syndrome that is both clinically and genetically heterogeneous. Most cases have been reported previously in…”
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X-linked situs abnormalities result from mutations in ZIC3 by Gebbia, M, Ferrero, G B, Pilia, G, Bassi, M T, Aylsworth, A, Penman-Splitt, M, Bird, L M, Bamforth, J S, Burn, J, Schlessinger, D, Nelson, D L, Casey, B

“…Vertebrates position unpaired organs of the chest and abdomen asymmetrically along the left-right (LR) body axis. Each structure comes to lie non-randomly with…”
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Homeoboxes and field defects by Bamforth, J S

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Spina bifida and hydrocephalus: a population study over a 35-year period by BAMFORTH, S. J, BAIRD, P. A

“…The records of the B.C. Health Surveillance Registry were used to analyze all live births with spina bifida and hydrocephalus (SBHC) in British Columbia…”
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X-linked situs abnormalities result from mutations in ZIC3 by Gebbia, Marinella, Ferrero, Giovanni B, Pilia, Giuseppe, Bassi, Maria T, Aylsworth, Arthur S, Penman-Splitt, Miranda, Bird, Lynne M, Bamforth, John S, Burn, John, Schlessinger, David, Nelson, David L, Casey, Brett

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Structural anomalies in patients with inherited metabolic diseases by Bamforth, F. J., Bamforth, J. S., Applegarth, D. A.

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Maternal uniparental heterodisomy for chromosome 16: Case report by Woo, V., Bridge, P. J., Bamforth, J. S.

“…A patient with uniparental heterodisomy for chromosome 16 presented initially at prenatal diagnosis with a karyotype of 47, XX + 16 on chorionic villus…”
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Congenital anomalies associated with hypothyroidism by Bamforth, J S, Hughes, I, Lazarus, J, John, R

“…Seven of the 34 infants identified through the Welsh Hypothyroid Screening Programme have additional congenital abnormalities. Two infants have a previously…”
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Are abnormalities of human organizational genes responsible for causing birth defects? by Bamforth, J S

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Trembling chin--a report of this inheritable dominant character in a four-generation Canadian family by Alsager, D E, Bowen, P, Bamforth, J S

“…Trembling chin is an unusual, benign, dominant trait. We describe the condition in a four-generation Canadian family. Investigations, which included E.E.G.,…”
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Preservation of the morphological and molecular stability of embryonic tissues by Pinchbeck, J B, James, T L, Bagnall, K M, Bamforth, J S, Milos, N C

“…There is presently great interest in using early embryonic tissues, particularly human tissue, for studies of protein and gene expression. Embryonic human…”
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Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32 by Nakabayashi, Kazuhiko, Bentley, Louise, Hitchins, Megan P., Mitsuya, Kohzoh, Meguro, Makiko, Minagawa, Sachi, Bamforth, John S., Stanier, Philip, Preece, Michael, Weksberg, Rosanna, Oshimura, Mitsuo, Moore, Gudrun E., Scherer, Stephen W.

“…Imprinted gene(s) on human chromosome 7 are thought to be involved in Russell–Silver syndrome (RSS), based on the fact that ∼10% of patients have maternal…”
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Poland anomaly with a limb body wall disruption defect: case report and review by Bamforth, J S, Fabian, C, Machin, G, Honore, L

“…We describe a female infant with apparent Poland anomaly (PA) and limb body wall defect. Analysis of the defects suggest that a disruption of the lateral…”
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Amniotic band sequence: Streeter's hypothesis reexamined by Bamforth, J S

“…Recently published reports of 54 subjects with the amniotic band syndrome (ABS) were reviewed, paying particular attention to internal anomalies. Evidence from…”
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DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q) by Bamforth, J. S., Lin, C. C.

“…DK phocomelia (von Voss‐Cherstvoy syndrome) is a rare condition characterized by radial ray defects, occipital encephalocoele, and urogenital abnormalities…”
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