Search Results - "Rennert, O M"

Identification of differentially expressed microRNAs across the developing human brain by Ziats, M N, Rennert, O M

“…We present a spatio-temporal assessment of microRNA (miRNA) expression throughout early human brain development. We assessed the prefrontal cortex, hippocampus…”
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Methylation of an intronic region regulates miR-199a in testicular tumor malignancy by Cheung, H-H, Davis, A J, Lee, T-L, Pang, A L, Nagrani, S, Rennert, O M, Chan, W-Y

“…In the testicular cancer cell line, NT2, we previously demonstrated that differentially methylated regions were located in introns or intergenic regions, and…”
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Genome-wide DNA methylation profiling reveals novel epigenetically regulated genes and non-coding RNAs in human testicular cancer by Cheung, H H, Lee, T L, Davis, A J, Taft, D H, Rennert, O M, Chan, W Y

“…Background: Testicular germ cell tumour (TGCT) is the most common malignant tumour in young males. Although aberrant DNA methylation is implicated in the…”
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Functional genomics of human brain development and implications for autism spectrum disorders by Ziats, M N, Grosvenor, L P, Rennert, O M

“…Transcription of the inherited DNA sequence into copies of messenger RNA is the most fundamental process by which the genome functions to guide development…”
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Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation by IDA, H, RENNERT, O. M, IWASAWA, K, KOBAYASHI, M, ETO, Y

“…In patients originally genotyped as homoallelic for the Gaucher disease (GD) L444P (1448C) mutation, we sought to confirm previously reported phenotypic…”
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Leydig cell hypoplasia due to inactivation of luteinizing hormone receptor by a novel homozygous nonsense truncation mutation in the seventh transmembrane domain by Salameh, W., Choucair, M., Guo, T.B., Zahed, L., Wu, S.-M., Leung, M.Y.-K., Rennert, O.M., Chan, W.-Y.

“…Inactivating mutations in the LH receptor are the predominant cause for male pseudohermaphroditism in subjects with Leydig cell hypoplasia (LCH). The severity…”
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Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations by Ida, H., Rennert, O. M., Kawame, H., Maekawa, K., Eto, Y.

“…Utilizing PCR and PCR‐SSCP analysis we investigated the prevalence of glucocerebrosidase gene mutations in 47 unrelated Japanese patients with Gaucher disease…”
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Severe skeletal complications in Japanese patients with type 1 Gaucher disease by Ida, H., Rennert, O. M., Kato, S., Ueda, T., Oishi, K., Maekawa, K., Eto, Y.

“…To better characterize skeletal complications in Japanese patients with type 1 Gaucher disease (GD), we performed genotyping and clinical and radiological…”
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Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor by MARTIN, M. M, WU, S.-M, MARTIN, A. L. A, RENNERT, O. M, CHAN, W.-Y

“…A white man who had been diagnosed, 35 years previously at the age of 27 months, to have precocious puberty, was later determined to have familial male-limited…”
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Gitelman's syndrome (familial hypokalemia-hypomagnesemia) by Barakat, A J, Rennert, O M

“…Gitelman's syndrome (GS) is a heritable renal disorder characterized by hypomagnesemia, hypokalemia and hypocalciuria, and distinct from Bartter's syndrome…”
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Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients : absence of the common Jewish 84GG and 1226G mutations by IDA, H, IWASAWA, K, KAWAME, H, RENNERT, O. M, MAEKAWA, K, ETO, Y

“…The prevalence of seven different mutations (84GG, IVS2 + 1, 754A, 1226G, 1342C, 1448C, and 1504T) was investigated in 32 unrelated Japanese Gaucher patients…”
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Development of a human mitochondria-focused cDNA microarray (hMitChip) and validation in skeletal muscle cells: implications for pharmaco- and mitogenomics by Alesci, S, Manoli, I, Michopoulos, V J, Brouwers, F M, Le, H, Gold, P W, Blackman, M R, Rennert, O M, Su, Y A, Chrousos, G P

“…Mitochondrial research has influenced our understanding of human evolution, physiology and pathophysiology. Mitochondria, intracellular organelles widely known…”
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Mutation screening of 17 Japanese patients with neuropathic Gaucher disease by IDA, H, RENNERT, O. M, KAWAME, H, ITO, T, MAEKAWA, K, ETO, Y

“…Using PCR and PCR-single strand conformation polymorphism (SSCP) we have identified gene mutations in 17 Japanese patients with neuropathic Gaucher disease…”
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Do clocks run clockwise? by Rennert, O M

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Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment by Laue, L, Rennert, O M

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Kidney abnormalities in Hajdu-Cheney syndrome by BARAKAT, A. J, SABA, C, RENNERT, O. M

“…We report a 14-year-old boy from Saudi Arabia with the Hajdu-Cheney syndrome who also had bilateral hypoplastic kidneys and chronic renal failure. This report,…”
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Familial congenital diaphragmatic hernia is an autosomal recessive variant by Hitch, D C, Carson, J A, Smith, E I, Sarale, D C, Rennert, O M

“…Forty families that have had more than one sibling with a congenital diaphragmatic hernia have been identified. The 85 children among the 40 families describe…”
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Case report on SHORT syndrome by Joo, S H, Raygada, M, Gibney, S, Farzaneh, I, Rennert, O M

“…The acronym SHORT was first used by Gorlin et al. (1975) and Sensenbrenner et al. (1975) to define a recognizable pattern of features, consisting of Short…”
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Pathological and biochemical studies of fetal Krabbe disease by Ida, H, Rennert, O M, Watabe, K, Eto, Y, Maekawa, K

“…Morphological and biochemical analysis of tissue from a 21-week-old fetus with Krabbe disease was performed. Galactosylceramidase activity was virtually absent…”
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Managed care and the Hippocratic Oath by Rennert, O M

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