Search Results - "YOUNG, I D"

Coffin-Lowry syndrome: clinical and molecular features by Hanauer, A, Young, I D

“…The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most…”
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The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly by Nanni, Luisa, Ming, Jeffrey E., Bocian, Maureen, Steinhaus, Kathryn, Bianchi, Diana W., de Die-Smulders, Christine, Giannotti, Aldo, Imaizumi, Kiyoshi, Jones, Kenneth L., Del Campo, Miguel, Martin, Rick A., Meinecke, Peter, Pierpont, Mary Ella M., Robin, Nathaniel H., Young, Ian D., Roessler, Erich, Muenke, Maximilian

“…Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left…”
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Towards characterization of photo-excited electron transfer and catalysis in natural and artificial systems using XFELs by Alonso-Mori, R, Asa, K, Bergmann, U, Brewster, A S, Chatterjee, R, Cooper, J K, Frei, H M, Fuller, F D, Goggins, E, Gul, S, Fukuzawa, H, Iablonskyi, D, Ibrahim, M, Katayama, T, Kroll, T, Kumagai, Y, McClure, B A, Messinger, J, Motomura, K, Nagaya, K, Nishiyama, T, Saracini, C, Sato, Y, Sauter, N K, Sokaras, D, Takanashi, T, Togashi, T, Ueda, K, Weare, W W, Weng, T-C, Yabashi, M, Yachandra, V K, Young, I D, Zouni, A, Kern, J F, Yano, J

“…The ultra-bright femtosecond X-ray pulses provided by X-ray Free Electron Lasers (XFELs) open capabilities for studying the structure and dynamics of a wide…”
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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…”
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Consensus development of a histopathological classification system for chronic prostatic inflammation by Nickel, J.C., True, L.D., Krieger, J.N., Berger, R.E., Boag, A.H., Young, I.D.

“…Objective To develop a standardized histopathological classification system for chronic prostatitis (standardized description of prostatic inflammatory…”
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Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations by Parker, M. J., Budd, J. L. S., Draper, E. S., Young, I. D.

“…Objectives To establish precise incidence figures for trisomy 13 and trisomy 18 in the former Trent region, to identify current prenatal diagnostic practice,…”
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Holt-oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family by QUAN YI LI, NEWBURY-ECOB, R. A, BONNET, D, LYONNET, S, YOUNG, I. D, RAEBURN, J. A, BUCKLER, A. J, LAW, D. J, DAVID BROOK, J, TERRETT, J. A, WILSON, D. I, CURTIS, A. R. J, CHEONG HO YI, GEBUHR, T, BULLEN, P. J, ROBSON, S. C, STRACHAN, T

“…Holt-Oram syndrome is a developmental disorder affecting the heart and upper limb, the gene for which was mapped to chromosome 12 two years ago. We have now…”
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Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome by Lim, W, Hearle, N, Shah, B, Murday, V, Hodgson, S V, Lucassen, A, Eccles, D, Talbot, I, Neale, K, Lim, A G, O'Donohue, J, Donaldson, A, Macdonald, R C, Young, I D, Robinson, M H, Lee, P W R, Stoodley, B J, Tomlinson, I, Alderson, D, Holbrook, A G, Vyas, S, Swarbrick, E T, Lewis, A A M, Phillips, R K S, Houlston, R S

“…Germline mutations in the LKB1/STK11 tumour suppressor gene cause Peutz-Jeghers syndrome (PJS), a rare dominant disorder. In addition to typical hamartomatous…”
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Holt-Oram syndrome: a clinical genetic study by Newbury-Ecob, R A, Leanage, R, Raeburn, J A, Young, I D

“…A clinical and genetic study of the Holt-Oram syndrome (HOS) has been carried out in the United Kingdom involving 55 cases designated Holt-Oram syndrome,…”
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Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly by Heussler, H S, Suri, M, Young, I D, Muenke, M

“…Holoprosencephaly (HPE) is a clinically variable and genetically heterogeneous central nervous system (CNS) malformation. Alobar HPE, which is its most severe…”
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A clinical and genetic study of campomelic dysplasia by Mansour, S, Hall, C M, Pembrey, M E, Young, I D

“…Campomelic dysplasia (CMD) is a rare skeletal disorder that is usually lethal. It is characterised by bowing of the lower limbs, severe respiratory distress,…”
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Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes by Gleeson, Joseph G., Minnerath, Sharon, Kuzniecky, Ruben I., Dobyns, William B., Young, Ian D., Ross, M. Elizabeth, Walsh, Christopher A.

“…Mutations in the X-linked gene doublecortin lead to “double cortex” syndrome (DC) in females and to X-linked lissencephaly (XLIS) in males. Because most…”
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Global expression profiling of strains harbouring null mutations reveals that the five rpf-like genes of Mycobacterium tuberculosis show functional redundancy by Downing, K.J., Betts, J.C., Young, D.I., McAdam, R.A., Kelly, F., Young, M., Mizrahi, V.

“…Setting: Aged, dormant cultures of Mycobacterium tuberculosis can be resuscitated by a secreted, proteinaceous growth factor from Micrococcus luteus, known as…”
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Spo0A directly controls the switch from acid to solvent production in solvent‐forming clostridia by Ravagnani, Adriana, Jennert, Katrin C. B., Steiner, Elisabeth, Grünberg, Raik, Jefferies, James R., Wilkinson, Shane R., Young, Danielle I., Tidswell, Edward C., Brown, David P., Youngman, Philip, Morris, J. Gareth, Young, Michael

“…The spo0A genes of Clostridium beijerinckii NCIMB 8052 and Clostridium cellulolyticum ATCC 35319 were isolated and characterized. The C‐terminal DNA‐binding…”
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A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment by Hutchin, T P, Parker, M J, Young, I D, Davis, A C, Pulleyn, L J, Deeble, J, Lench, N J, Markham, A F, Mueller, R F

“…We describe a family with non-syndromic sensorineural hearing impairment inherited in a manner consistent with maternal transmission. Affected members were…”
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Increased expression of the 72-kd type IV collagenase in prostatic adenocarcinoma. Demonstration by immunohistochemistry and in situ hybridization by Boag, AH, Young, ID

“…The expression of the 72-kd type IV collagenase has been implicated as an important factor in determining the invasive potential of malignant tumors. Using…”
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Mutations in SOX9, the gene responsible for campomelic dysplasia and autosomal sex reversal by CHENI KWOK, WELLER, P. A, GOODFELLOW, P. N, SCHAFER, A. J, GUIOLI, S, FOSTER, J. W, SAHAR MANSOUR, ZUFFARDI, O, PUNNETT, H. H, DOMINGUEZ-STEGLICH, M. A, BROOK, J. D, YOUNG, I. D

“…Campomelic dysplasia (CD) is a skeletal malformation syndrome frequently accompanied by 46,XY sex reversal. A mutation-screening strategy using SSCP was…”
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Induction of perlecan gene expression precedes amyloid formation during experimental murine AA amyloidogenesis by Ailles, L, Kisilevsky, R, Young, I D

“…In a murine model of AA amyloidosis, it has been demonstrated that perlecan, the basement membrane heparan sulfate proteoglycan, is co-deposited with AA…”
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Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations — molecular and audiological findings by Mueller, R.F, Nehammer, A, Middleton, A, Houseman, M, Taylor, G.R, Bitner-Glindzciz, M, Van Camp, G, Parker, M, Young, I.D, Davis, A, Newton, V.E, Lench, N.J

“…We screened DNA from 72 sibships and 138 sporadically affected individuals with congenital non-syndromal sensorineural hearing impairment (NSSNHI) for…”
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Epstein-Barr virus-associated acute interstitial nephritis: infection or immunologic phenomenon? by Cataudella, J A, Young, I D, Iliescu, Edward A

“…Epstein-Barr virus (EBV) DNA in renal tissue in acute interstitial nephritis (IN) has not been previously reported. An 18-year-old male presented with a sore…”
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