Search Results - "R I Kelley"

The Smith-Lemli-Opitz syndrome by Kelley, Richard I, Hennekam, Raoul C M

“…The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of…”
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Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome by Witsch-Baumgartner, M, Gruber, M, Kraft, H G, Rossi, M, Clayton, P, Giros, M, Haas, D, Kelley, R I, Krajewska-Walasek, M, Utermann, G

“…Background: Smith-Lemli-Opitz syndrome (MIM 270400) is an autosomal recessive malformation and mental retardation syndrome that ranges in clinical severity…”
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Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations by Witsch-Baumgartner, M, Schwentner, I, Gruber, M, Benlian, P, Bertranpetit, J, Bieth, E, Chevy, F, Clusellas, N, Estivill, X, Gasparini, G, Giros, M, Kelley, R I, Krajewska-Walasek, M, Menzel, J, Miettinen, T, Ogorelkova, M, Rossi, M, Scala, I, Schinzel, A, Schmidt, K, Schönitzer, D, Seemanova, E, Sperling, K, Syrrou, M, Talmud, P J, Wollnik, B, Krawczak, M, Labuda, D, Utermann, G

“…Smith-Lemli-Opitz syndrome (SLOS) (MIM 270 400) is an autosomal recessive multiple congenital anomalies/mental retardation syndrome caused by mutations in the…”
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Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts by Haas, D, Morgenthaler, J, Lacbawan, F, Long, B, Runz, H, Garbade, S F, Zschocke, J, Kelley, R I, Okun, J G, Hoffmann, G F, Muenke, M

“…Background: Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain in humans. The aetiology is heterogeneous and…”
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Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts by Kelley, Richard I.

“…A method is described for quantification of 7-dehydrocholesterol (7DHC) and other neutral sterols by gas chromatography/mass spectrometry for diagnosis of…”
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RSH/Smith-Lemli-Opitz Syndrome: Mutations and Metabolic Morphogenesis by Kelley, Richard I.

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Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: A novel case of P450 oxidoreductase deficiency by Williamson, L., Arlt, W., Shackleton, C., Kelley, R.I., Braddock, S.R.

“…The Antley–Bixler syndrome (ABS) is a multiple congenital malformation syndrome with craniosynostosis, radiohumeral synostosis, femoral bowing, choanal atresia…”
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The gene mutated in bare patches and striated mice encodes a novel 3β-hydroxysteroid dehydrogenase by Herman, Gail E, Liu, Xiao Yu, Dangel, Andrew W, Kelley, Richard I, Zhao, Wei, Denny, Paul, Botcherby, Marc, Cattanach, Bruce, Peters, Jo, Hunsicker, Patricia R, Mallon, Ann-Marie, Strivens, Mark A, Bate, Rachael, Miller, Webb, Rhodes, Michael, Brown, Stephen D.M

“…X-linked dominant disorders that are exclusively lethal prenatally in hemizygous males have been described in human and mouse. None of the genes responsible…”
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D‐2‐Hydroxyglutaric aciduria: Further clinical delineation by der Knaap, M. S., Jakobs, C., Hoffmann, G. F., Duran, M., Muntau, A. C., Schweitzer, S., Kelley, R. I., Parrot‐Roulaud, F., Amiel, J., De Lonlay, P., Rabier, D., Eeg‐Olofsson, O.

“…It has recently been recognized that D‐2‐hydroxyglutaric aciduria is a distinct neurometabolic disorder with a severe and a mild phenotype. Whereas the…”
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Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome by Johnston, Jennifer, Kelley, Richard I., Feigenbaum, Annette, Cox, Gerald F., Iyer, Geeta S., Funanage, Vicky L., Proujansky, Roy

“…Barth syndrome is an X-linked cardiomyopathy with neutropenia and 3-methylglutaconic aciduria. Recently, mutations in the G4.5 gene, located in Xq28, have been…”
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Decreased cholesterol synthesis as a possible aetiological factor in malformations of Trisomy 18 by Lam, Wayne W.K., Kirk, J., Manning, N., Reardon, W., Kelley, R.I., FitzPatrick, D.

“…We report a series of neonates and foetuses with trisomy 18 and abnormally low cholesterol levels and propose that down regulation of cholesterol synthesis in…”
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Abnormal fatty acid metabolism in childhood spinal muscular atrophy by Crawford, Thomas O., Sladky, John T., Hurko, Orest, Besner-Johnston, Anne, Kelley, Richard I.

“…Our previous experience with abnormal fatty acid metabolism in several children with spinal muscular atrophy (SMA) prompted evaluation of fatty acid metabolism…”
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Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: Observations in distinguishing genetic-metabolic from acquired causes by Hoon, Alexander H., Reinhardt, Elsie M., Kelley, Richard I., Breiter, Steven N., Morton, D.Holmes, Naidu, SakkuBai, Johnston, Michael V.

“…Experienced clinicians recognize that some children who appear to have static cerebral palsy (CP) actually have underlying genetic-metabolic disorders. We…”
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Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations by Witsch-Baumgartner, M, Ciara, E, Löffler, J, Menzel, H J, Seedorf, U, Burn, J, Gillessen-Kaesbach, G, Hoffmann, G F, Fitzky, B U, Mundy, H, Clayton, P, Kelley, R I, Krajewska-Walasek, M, Utermann, G

“…Smith-Lemli-Opitz syndrome/RSH (SLOS) is a multiple congenital anomaly syndrome caused by mutations in the gene for Delta7-sterol reductase (DHCR7) which…”
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Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies by Campbell, Kevin P, Michele, Daniel E, Barresi, Rita, Kanagawa, Motoi, Saito, Fumiaki, Cohn, Ronald D, Satz, Jakob S, Dollar, James, Nishino, Ichizo, Kelley, Richard I, Somer, Hannu, Straub, Volker, Mathews, Katherine D, Moore, Steven A

“…Muscle-eye-brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD) are congenital muscular dystrophies with associated, similar brain…”
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3-Methylglutaconic acidemia in Smith-Lemli-Opitz syndrome by KELLEY, R. I, KRATZ, L

“…The branched-chain organic acid, 3-methylglutaconic acid, is an intermediate (as the CoA thioester) in the leucine degradative pathway as well as the…”
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Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease by Wallace, D C, Zheng, X X, Lott, M T, Shoffner, J M, Hodge, J A, Kelley, R I, Epstein, C M, Hopkins, L C

“…A large MERRF pedigree permitted the direct testing of the predictions for a mitochondrial DNA (mtDNA) mutation. A mtDNA mutation was demonstrated by proving…”
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A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis by Beachy, Philip A, Cooper, Michael K, Wassif, Christopher A, Krakowiak, Patrycja A, Taipale, Jussi, Gong, Ruoyu, Kelley, Richard I, Porter, Forbes D

“…Smith-Lemli-Opitz syndrome (SLOS), desmosterolosis and lathosterolosis are human syndromes caused by defects in the final stages of cholesterol biosynthesis…”
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X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria by Kelley, R I, Cheatham, J P, Clark, B J, Nigro, M A, Powell, B R, Sherwood, G W, Sladky, J T, Swisher, W P

“…Seven boys with an apparently X-linked syndrome of dilated cardiomyopathy, growth retardation, neutropenia, and persistently elevated urinary levels of…”
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A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase by Aoyama, T, Uchida, Y, Kelley, R I, Marble, M, Hofman, K, Tonsgard, J H, Rhead, W J, Hashimoto, T

“…Palmitoyl-CoA dehydrogenase activity in skin fibroblasts from seven patients with unidentified defects of fatty acid oxidation was measured in the presence and…”
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