Search Results - "Hamosh, A"

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders by Hamosh, Ada, Scott, Alan F., Amberger, Joanna S., Bocchini, Carol A., McKusick, Victor A.

“…Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support…”
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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders by Hamosh, Ada, Scott, Alan F, Amberger, Joanna, Bocchini, Carol, Valle, David, McKusick, Victor A

“…Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support…”
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Natural history of nonketotic hyperglycinemia in 65 patients by HOOVER-FONG, J. E, SHAH, S, VAN HOVE, J. L. K, APPLEGARTH, D, TOONE, J, HAMOSH, A

“…Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder caused by a defect in the glycine cleavage system…”
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Hydroxocobalamin dose escalation improves metabolic control in cblC by Carrillo-Carrasco, N, Sloan, J, Valle, D, Hamosh, A, Venditti, C. P

“…Cobalamin C (cblC), a combined form of methylmalonic acidaemia and hyperhomocysteinaemia, is recognized as the most frequent inborn error of intracellular…”
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Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria by Vernon, H.J., Koerner, C.B., Johnson, M.R., Bergner, A., Hamosh, A.

“…Sapropterin dihydrochloride, a synthetic, stable form of the tetrahydrobiopterin cofactor of phenylalanine hydroxylase, has been shown to reduce plasma…”
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Comparison of the clinical manifestations of cystic fibrosis in black and white patients by Hamosh, Ada, FitzSimmons, Stacey C., Macek, Milan, Knowles, Michael R., Rosenstein, Beryl J., Cutting, Garry R.

“…No large-scale studies of the incidence or disease severity of cystic fibrosis (CF) in black patients have been reported to date. In this study, the CF…”
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A Loss-of-Function Mutation in the Endothelin-Converting Enzyme 1 (ECE-1) Associated with Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction by Hofstra, Robert M.W., Valdenaire, Olivier, Arch, Ellen, Osinga, Jan, Kroes, Hester, Löffler, Bernd-Michael, Hamosh, Ada, Meijers, Carel, Buys, Charles H.C.M.

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Chronic Kidney Disease in an Adult with Propionic Acidemia by Vernon, H. J., Bagnasco, S., Hamosh, A., Sperati, C. J.

“…We report an adult male with classic propionic acidemia (PA) who developed chronic kidney disease in the third decade of his life. This diagnosis was…”
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Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis by MILLER, P. W, HAMOSH, A, MACEK, M. JR, GREENBERGER, P. A, MACLEAN, J, WALDEN, S. M, SLAVIN, R. G, CUTTING, G. R

“…The etiology of allergic bronchopulmonary aspergillosis (ABPA) is not well understood. A clinical phenotype resembling the pulmonary disease seen in cystic…”
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Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia by Hamosh, Ada, Maher, Joseph F., Bellus, Gary A., Rasmussen, Sonja A., Johnston, Michael V.

“…Objective: The objective of this study was to test the hypotheses that reduction of glycine and blocking of the N-methyl- d-aspartate receptor channel complex…”
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Interstitial deletion of chromosome 2q32‐34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency) by Loscalzo, M.L., Galczynski, R.L., Hamosh, A., Summar, M., Chinsky, J.M., Thomas, G.H.

“…A de novo deletion of the long arm of chromosome 2 at 2q31‐33 was observed in the fetal amniocyte G‐banded karyotype performed because of possible multiple…”
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The relationship of plasma glutamine to ammonium and of glycine to acid–base balance in propionic acidaemia by Al‐Hassnan, Z. N., Boyadjiev, S. A., Praphanphoj, V., Hamosh, A., Braverman, N. E., Thomas, G. H., Geraghty, M. T.

“…Hyperammonaemia is a common and serious complication of propionic acidaemia. Treatment of hyperammonaemia with sodium phenylacetate or phenylbutyrate has not…”
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Facial dysgenesis: A novel facial syndrome with chromosome 7 deletion p15.1-21.1 by Hoover-Fong, Julie E., Cai, J., Cargile, C.B., Thomas, G.H., Patel, A., Griffin, C.A., Jabs, E.W., Hamosh, A.

“…We describe a female neonate with a unique constellation of features including anophthalmia and cryptophthalmos, temporal remnant “eye tags,” bilateral cleft…”
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McKusick's Online Mendelian Inheritance in Man (OMIM®) by Amberger, Joanna, Bocchini, Carol A, Scott, Alan F, Hamosh, Ada

“…McKusick's Online Mendelian Inheritance in Man (OMIM®; http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally…”
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Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay by Weiss, Karin, Wigby, Kristen, Fannemel, Madeleine, Henderson, Lindsay B, Beck, Natalie, Ghali, Neeti, Study, D D D, Anderlid, Britt-Marie, Lundin, Johanna, Hamosh, Ada, Jones, Marilyn C, Ghedia, Sondhya, Muenke, Maximilian, Kruszka, Paul

“…The introduction of whole-exome sequencing into the Pediatric Genetics clinic has increased the identification of novel genes associated with…”
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Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita by Mary Armanios, Chen, Jiunn-Liang, Yen-Pei Christy Chang, Brodsky, Robert A., Anita Hawkins, Griffin, Constance A., James R. Eshleman, Cohen, Alan R., Chakravarti, Aravinda, Hamosh, Ada, Greider, Carol W.

“…Dyskeratosis congenita is a rare inherited disorder characterized by abnormal skin manifestations. Morbidity and mortality from this disease is usually due to…”
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CFTR Protein Expression in Primary and Cultured Epithelia by Zeitlin, Pamela L., Crawford, Isabelle, Lu, Luo, Woel, Sybille, Cohen, Michael E., Donowitz, Mark, Montrose, Marshall H., Hamosh, Ada, Cutting, Garry R., Gruenert, Dieter, Huganir, Richard, Maloney, Peter, Guggino, William B.

“…The gene responsible for the lethal disorder cystic fibrosis encodes a 1480-amino acid glycoprotein, CFTR. Using polyclonal antibodies directed against…”
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American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities by Kearney, Hutton M., South, Sarah T., Wolff, Daynna J., Lamb, Allen, Hamosh, Ada, Rao, Kathleen W.

“…Genomic copy number microarrays have significantly increased the diagnostic yield over a karyotype for clinically significant imbalances in individuals with…”
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Heritability of Lung Disease Severity in Cystic Fibrosis by Vanscoy, Lori L, Blackman, Scott M, Collaco, Joseph M, Bowers, Amanda, Lai, Teresa, Naughton, Kathleen, Algire, Marilyn, McWilliams, Rita, Beck, Suzanne, Hoover-Fong, Julie, Hamosh, Ada, Cutler, Dave, Cutting, Garry R

“…Obstructive lung disease, the major cause of mortality in cystic fibrosis (CF), is poorly correlated with mutations in the disease-causing gene, indicating…”
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Problematic Variation in Local Institutional Review of a Multicenter Genetic Epidemiology Study by McWilliams, Rita, Hoover-Fong, Julie, Hamosh, Ada, Beck, Suzanne, Beaty, Terri, Cutting, Garry

“…CONTEXT Sequencing of the human genome provides an immense resource for studies correlating DNA variation and epidemiology. However, appropriately powered…”
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