Search Results - "Geraghty, M. T."

Phenylketonuria in adulthood: A collaborative study by Koch, R., Burton, B., Hoganson, G., Peterson, R., Rhead, W., Rouse, B., Scott, R., Wolff, J., Stern, A. M., Guttler, F., Nelson, M., la Cruz, F., Coldwell, J., Erbe, R., Geraghty, M. T., Shear, C., Thomas, J., Azen, C.

“…During 1967–1983, the Maternal and Child Health Division of the Public Health Services funded a collaborative study of 211 newborn infants identified on…”
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Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort by Yoon, G., Baskin, B., Tarnopolsky, M., Boycott, K. M., Geraghty, M. T., Sell, E., Goobie, S., Meschino, W., Banwell, B., Ray, P. N.

“…We describe the clinical and genetic features of a well-characterized cohort of patients with autosomal recessive hereditary spastic paraplegia (ARHSP) in the…”
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A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea by Ebrahim, M.S.E, Lawson, M.L, Geraghty, M.T

“…Abstract Aim To describe the atypical phenotype and genotype of an adolescent girl with symptomatic exercise-induced hyperglycaemia, responsive to sulfonylurea…”
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PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome by Marsh, Debbie J., Kum, Jennifer B., Lunetta, Kathryn L., Bennett, Michael J., Gorlin, Robert J., Ahmed, S. Faisal, Bodurtha, Joann, Crowe, Carol, Curtis, Mary A., Dasouki, Majed, Dunn, Teresa, Feit, Howard, Geraghty, Michael T., Graham, John M., Hodgson, Shirley V., Hunter, Alasdair, Korf, Bruce R., Manchester, David, Miesfeldt, Susan, Murday, Victoria A., Nathanson, Katherine L., Parisi, Melissa, Pober, Barbara, Romano, Corrado, Tolmie, John L., Trembath, Richard, Winter, Robin M., Zackai, Elaine H., Zori, Roberto T., Weng, Liang-Ping, Dahia, Patricia L. M., Eng, Charis

“…Germline mutations in the tumour suppressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS)…”
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Whole-exome sequencing expands the phenotype of Hunter syndrome by Nikkel, S.M., Huang, L., Lachman, R., Beaulieu, C.L., Schwartzentruber, J., Majewski, J., Geraghty, M.T., Boycott, K.M.

“…Whole‐exome sequencing (WES) has proven its utility in finding novel genes associated with rare conditions and its usefulness is being further demonstrated in…”
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Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue‐ or age‐related variation by White, S. L., Shanske, S., McGill, J. J., Mountain, H., Geraghty, M. T., DiMauro, S., Dahl, H.‐H. M., Thorburn, D. R.

“…Two pathogenic mitochondrial DNA mutations, a T‐to‐G substitution (8993T>G) and a T‐to‐C substitution (8993T>C), at nucleotide 8993 have been reported. We…”
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Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome by Rowe, Peter C., Barron, Diana F., Calkins, Hugh, Maumenee, Irene H., Tong, Patrick Y., Geraghty, Michael T.

“…Objective: To report chronic fatigue syndrome (CFS) associated with both Ehlers-Danlos syndrome (EDS) and orthostatic intolerance. Study design: Case series of…”
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Mosaic deletion 11p13 in a child with dopamine beta‐hydroxylase deficiency—Case report and review of the literature by Erez, A., Li, J., Geraghty, M.T., Ben‐Shachar, S., Cooper, M.L., Mensing, D.E., Vonalt, K.D., Ou, Z., Pursley, A.N., Chinault, A.C., Patel, A., Cheung, S.W., Sahoo, T.

“…Dopamine beta‐hydroxylase (DBH) deficiency is characterized by a lack of sympathetic noradrenergic function. Affected individuals exhibit profound deficits in…”
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Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia by Praphanproj, V., Boyadjiev, S. A., Waber, L. J., Brusilow, S. W., Geraghty, M. T.

“…Intravenous sodium benzoate and sodium phenylacetate have been used successfully in the treatment of acute hyperammonaemia in patients with urea cycle…”
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Identification of a recurrent mutation in the human hairless gene underlying atrichia with papular lesions by Massé, M., Martinez-Mir, A., Lam, H., Geraghty, M. T., Christiano, A. M.

“…Summary Identification of mutations in the hairless (HR) gene in patients with atrichia with papular lesions (APL) has proven of critical importance, as it…”
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Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome by Montgomery, Robert A., Geraghty, Michael T., Bull, Evelyn, Gelb, Bruce D., Johnson, Maureen, McIntosh, Iain, Francomano, Clair A., Dietz, Harry C.

“…Mutations in the FBN1 gene, which encodes fibrillin-1, cause Marfan syndrome (MFS) and have been associated with a wide range of milder, overlap phenotypes…”
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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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Suppression of Peroxisomal Membrane Protein Defects by Peroxisomal ATP Binding Cassette (ABC) Proteins by Braiterman, Lelita T., Zheng, Siqun, Watkins, Paul A., Geraghty, Michael T., Johnson, Gerald, McGuinness, Martina C., Moser, Ann B., Smith, Kirby D.

“…X-Linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder characterized by reduced peroxisomal very long chain fatty acid (VLCFA) β-oxidation. The…”
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Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome by Goodman, B. K., Rutberg, J., Lin, W. W., Pulver, A. E., Thomas, G. H., Geraghty, M. T.

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Cobalamin C defect associated with hemolytic-uremic syndrome by Geraghty, M T, Perlman, E J, Martin, L S, Hayflick, S J, Casella, J F, Rosenblatt, D S, Valle, D

“…We describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the…”
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Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES) by Praphanphoj, Verayuth, Goodman, Barbara K., Thomas, George H., Niel, Kerry M., Toomes, Carmel, Dixon, Michael J., Geraghty, Michael T.

“…Blepharophimosis, ptosis, epicanthus inversus syndrome type I (BPES; OMIM 110100) is an autosomal dominant disorder affecting craniofacial development and…”
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Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome by Flanagan, N, Boyadjiev, S A, Harper, J, Kyne, L, Earley, M, Watson, R, Jabs, E W, Geraghty, M T

“…We report on the occurrence of coronal craniosynostosis, anal anomalies, and porokeratosis in two male sibs. A third male sib was phenotypically normal as were…”
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Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint by de Leeuw, B, Balemans, M, Weghuis, D O, Seruca, R, Janz, M, Geraghty, M T, Gilgenkrantz, S, Ropers, H H, Geurts van Kessel, A

“…The chromosomal translocation (X;18)(p11.2;q11.2) represents the cytogenetic hallmark of human synovial sarcomas. Two related but distinct breakpoints within…”
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Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser by Hoover‐Fong, J. E., Geraghty, M. T., Raymond, G. V., Thomas, G. H.

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A male child with the rumpshaker mutation, X‐linked spastic paraplegia/Pelizaeus‐Merzbacher disease and lysinuria by Naidu, S., Dlouhy, S.R., Geraghty, M.T., Hodes, M.E.

“…A 3.5‐year‐old boy had intact cognition, delayed walking, progressive spastic paraparesis and congenital nystagmus. The mother denied family history of any…”
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