Výsledky vyhledávání - "Philip L. Townes"

Cardiomyopathy of limb-girdle muscular dystrophy

Autor: James M. Gilchrist, David H. Spodick, Richard L. Bishop, Umberto DeGirolami, Philip L. Townes, David A. Chad, Dennis W. Maki, Daniel A.N. Mascarenhas, Gilbert H. Mudge

Publikováno v: Journal of the American College of Cardiology. 24(5):1328-1333

Objectives. This study sought to find an association between dilated cardiomyopathy and limb-girdle muscular dystrophy. Background. Cardiomyopathy has been seen in various neuro-muscular disorders, but it has not been recognized to be associated with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::549dc061dbc8d3e607bb0ad7560de318

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Tetrasomy 21 in megakaryoblastic leukemia

Autor: Philip L. Townes, Jeffrey P. Shearin, Molly R. Schwenn, Bruce A. Woda, Sudha K. Rao, Lorraine Potocki

Publikováno v: Cancer Genetics and Cytogenetics. 74:66-70

A 23-month-old female evaluated for profound anemia proved to have megakaryoblastic leukemia. The diagnosis is based on examination of bone marrow morphology, cytochemical characteristics, and immunophenotype. The chromosome complement of unstimulate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92ed872cf8d1c740614a19c44a33d121
https://doi.org/10.1016/0165-4608(94)90032-9

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Simultaneous chronic lymphocytic leukemia and chronic myelogenous leukemia. Evidence of a separate stem cell origin

Autor: V. Ellen Maher, Jack E. Ansell, Bruce A. Woda, Lisa Gill, E B S Janice Wallace, Philip L. Townes, B S Louis Savas

Publikováno v: Cancer. 71:1993-1997

The authors studied a patient with the simultaneous occurrence of chronic lymphocytic leukemia (CLL) and chronic myelogenous leukemia (CML). The coexistence of these two hematologic malignancies leads to questions about their cell of origin. Through

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::01a35a21b05aab4cbe4ab53442b909f3
https://doi.org/10.1002/1097-0142(19930315)71:6<1993::aid-cncr2820710612>3.0.co

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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

Autor: Philip L. Townes, Peter E. Newburger, Qichang Shen, Carolyn Padden

Publikováno v: Genomics. 23(1)

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 population study of 110 alleles from 55 unrelated individuals, the allele frequencies for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8251dcccb1215e5ebcbcbfcbe6242bd8
https://pubmed.ncbi.nlm.nih.gov/7829093

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Cerebral abnormalities in the oral-facial-digital syndrome

Autor: Beverly P. Wood, Philip L. Townes, Lionel W. Young

Publikováno v: Pediatric Radiology. 3:130-136

This is a report of three cases of the oral-facial-digital (OFD) syndrome with accompanying severe cerebral abnormalities. Among 150 reported cases of this syndrome, 16 had accompanying documented cerebral anomalies including porencephalic cysts, age

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f66ed52162fa408e3b8b3365f1b8dbce
https://doi.org/10.1007/bf01006897

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Congenital Absence of the Lacrimal Puncta Associated with Alacrima and Aptyalism

Autor: Philip L. Townes, William C. Caccamise

Publikováno v: American Journal of Ophthalmology. 89:62-65

A 9-year-old girl had no lacrimal puncta, tearing (alacrima), or salivation (aptyalism). The lack of salivation caused florid dental caries. The same condition was found in the proband's father and paternal grandfather. Inheritance of this previously

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7241f175ea3f696af24813627886e2a
https://doi.org/10.1016/0002-9394(80)90230-5

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Hereditary Methemoglobinemia: A New Variant Exhibiting Dominant Inheritance of Methemoglobin A

Autor: George R. Lovell, Philip L. Townes

Publikováno v: Blood. 18:18-33

1. A case of dominantly inherited methemoglobinemia is described. 2. Despite the pattern of autosomal dominant inheritance, the hemoglobin is thus far indistinguishable from methemoglobin A and is considered to be normal rather than one of the subtyp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cb4195a741b310c981afc852c5d66057
https://doi.org/10.1182/blood.v18.1.18.18

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Investigation of the Defect in a Variant of Hereditary Methemoglobinemia

Autor: Philip L. Townes, Martin Morrison

Publikováno v: Blood. 19:60-74

1. Further evidence has been presented to confirm the fact that the methemoglobin found in a new variant of hereditary methemoglobinemia was normal methemoglobin. 2. The reduced glutathione content of the red cells of this variant was less than 50 pe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5f812cb2b6baf95b2d1e5ae9f7209469
https://doi.org/10.1182/blood.v19.1.60.60

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Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies

Autor: Philip L. Townes, Eric R. Brocks

Publikováno v: The Journal of Pediatrics. 81:321-326

A new autosomal dominant syndrome consisting of imperforate anus, triphalangealthumbs, other bony anomalies of the hands and feet, and sensorineural deafness is reported.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39d6f3c5fb0264c66eca1708426bf07a
https://doi.org/10.1016/s0022-3476(72)80302-0

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