Search Results - "TOWNES, P L"

X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats by Bassi, Maria T., Ramesar, Rajkumar S., Caciotti, Barbara, Winship, Ingrid M., De Grandi, Alessandro, Riboni, Mirko, Townes, Philip L., Beighton, Peter, Ballabio, Andrea, Borsani, Giuseppe

“…We have identified a novel gene, transducin (β)–like 1 ( TBL1), in the Xp22.3 genomic region, that shows high homology with members of the WD-40–repeat protein…”
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Characterization of a human malignant mesothelioma cell line (H-MESO-1): a biphasic solid and ascitic tumor model by REALE, F. R, GRIFFIN, T. W, COMPTON, J. M, GRAHAM, S, TOWNES, P. L, BOGDEN, A

“…Human malignant mesothelioma of the pleura was successfully transplanted s.c. into athymic nude mice and grew as a solid neoplastic mass. Tumor growth resulted…”
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An in-frame trinucleotide repeat in the coding region of the human cellular glutathione peroxidase (GPX1) gene: in vivo polymorphism and in vitro instability by Shen, Q, Townes, P L, Padden, C, Newburger, P E

“…We report the variation in vivo and instability in vitro of an in-frame GCG trinucleotide repeat in the human cellular glutathione peroxidase (GPX1) gene. In a…”
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Simultaneous chronic lymphocytic leukemia and chronic myelogenous leukemia. Evidence of a separate stem cell origin by Maher, V E, Gill, L, Townes, P L, Wallace, J E, Savas, L, Woda, B A, Ansell, J E

“…The authors studied a patient with the simultaneous occurrence of chronic lymphocytic leukemia (CLL) and chronic myelogenous leukemia (CML). The coexistence of…”
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Newborn screening: a potpourri of policies by Townes, P L

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Salmonella enteritidis. A rare cause of pyelonephritis in children by Ross, S A, Townes, P L, Hopkins, T B

“…A previously healthy 2.5-year-old boy developed symptoms of acute pyelonephritis following an acute gastroenteritis. The patient received parenteral ampicillin…”
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Symposium on genetics in clinical medicine. Foreword by Townes, P L

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Meconium plug syndrome, cystic fibrosis, and exocrine pancreatic deficiency by Townes, P L, Kopelman, A E

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Pepsinogen polymorphism frequencies in a Negro population by Townes, P L, White, M R

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Electrophoresis of human pyruvate kinase by Townes, P L

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XK aprosencephaly and anencephaly in sibs by Townes, P L, Reuter, K, Rosquete, E E, Magee, B D

“…Recent studies have suggested a causal and pathogenetic relationship between holoprosencephaly and anencephaly. In support of the proposed relationship we…”
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Congenital hypothyroidism and hyperthyroidism in monozygotic twin girls by Townes, P L, Bradford, W L

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Human polymorphism by Townes, P L

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Pulmonary abnormalities in intermediate alpha-1-antitrypsin deficiency by Hall, W J, Hyde, R W, Schwartz, R H, Mudholkar, G S, Webb, D R, Chaubey, Y P, Townes, P L

“…Pulmonary function studies were carried out in a group of asymptomatic nonsmoking adults with intermediate alpha-1-antitrypsin deficiency who were attending an…”
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Amylase polymorphism: studies of sera and duodenal aspirates in normal individuals and in cystic fibrosis by Townes, P L, Moore, W D, White, M R

“…Prior genetic studies of the human pancreatic amylase (Amy2) locus have been directed principally to the electrophoretic analysis of serum and urine, on the…”
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Probable genetic linkage between a locus for human urinary pepsinogen and the HL-A loci by Weitkamp, L R, Townes, P L, May, A G

“…The genetic basis of familial variation in the relative intensities of human urinary pepsinogen isozymes is not completely clear from family studies. An…”
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Investigation of the Defect in a Variant of Hereditary Methemoglobinemia by TOWNES, PHILIP L., MORRISON, MARTIN

“…1. Further evidence has been presented to confirm the fact that the methemoglobin found in a new variant of hereditary methemoglobinemia was normal…”
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Linkage data on urinary pepsinogen and the Kell blood group by Weitkamp, L R, Townes, P L, Johnston, E

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A NEW CONGENITAL HEMOLYTIC ANEMIA WITH DEFORMED ERYTHROCYTES ("STOMATOCYTES") AND REMARKABLE SUSCEPTIBILITY OF ERYTHROCYTES TO COLD HEMOLYSIS IN VITRO. I. CLINICAL AND HEMATOLOGIC STUDIES by MILLER, G, TOWNES, P L, MACWHINNEY, J B

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Ectopia lentis et pupillae by Townes, P L

“…Two brothers had ectopia lentis et pupillae, an autosomal recessive disorder. Ascertainment of the brothers occurred through an unaffected sister, who sought…”
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