Philip L. Townes

Q: What Schools Are Affiliated With Philip L. Townes

Philip L. Townes is affiliated with the following schools: University of Massachusetts Medical School, University of Rochester, Harvard University

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Philip L. Townes

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#10422

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#14279

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#7295

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#9012

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Philosophy

Why Is Philip L. Townes Influential?

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According to Wikipedia, Philip Leonard Townes was an American physician, human geneticist, embryologist and developmental biologist who identified Townes–Brocks syndrome in 1972 while a Professor of Pediatrics at the University of Rochester.

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Philip L. Townes's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Directed movements and selective adhesion of embryonic amphibian cells (1955) (874)
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. (1972) (146)
Electrophoretic heterogeneity and relationships of pepsinogens in human urine, serum, and gastric mucosa. (1970) (106)
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. (1999) (102)
Characterization of a human malignant mesothelioma cell line (H-MESO-1): a biphasic solid and ascitic tumor model. (1987) (83)
Pepsinogens: Genetic Polymorphism in Man (1970) (80)
THE NONRANDOMNESS OF CHROMOSOMAL ABNORMALITIES. ASSOCIATION OF TRISOMY 18 AND DOWN'S SYNDROME. (1964) (65)
Serum alpha 1-antitrypsin variants. Prevalence and clinical spirometry. (1973) (59)
Trisomy 13-15 in a male infant. (1962) (55)
Inherited Partial Trisomy 8q (22 → qter) (1978) (52)
A PATIENT WITH 48 CHROMOSOMES (XYYY). (1965) (47)
TRYPSINOGEN DEFICIENCY DISEASE. (1964) (46)
Congenital absence of the lacrimal puncta associated with alacrima and aptyalism. (1980) (46)
The Embryology of Supernumerary Ovaries (1973) (44)
Trisomy 18 (16-18) associated with congenital glaucoma and optic atrophy. (1962) (42)
Observations on the pathology of the trisomy 17-18 syndrome. (1963) (41)
A NEW CONGENITAL HEMOLYTIC ANEMIA WITH DEFORMED ERYTHROCYTES ("STOMATOCYTES") AND REMARKABLE SUSCEPTIBILITY OF ERYTHROCYTES TO COLD HEMOLYSIS IN VITRO. I. CLINICAL AND HEMATOLOGIC STUDIES. (1965) (36)
Physiologic deficiency of pancreatic amylase in infancy: a factor in iatrogenic diarrhea. (1973) (34)
Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea. A dominant trait. (1979) (33)
Concordant prune belly syndrome in monozygotic twins. (2000) (33)
Further observations on trypsinogen deficiency disease: Report of a second case (1967) (32)
Proteolytic and lipolytic deficiency of the exocrine pancreas. (1969) (30)
BENZOCAINE INDUCED METHEMOGLOBINEMIA (1977) (30)
Pulmonary abnormalities in intermediate alpha-1-antitrypsin deficiency. (1976) (30)
Investigation of the defect in a variant of hereditary methemoglobinemia. (1962) (27)
Effects of proteolytic enzymes on the fertilization membrane and jelly layers of the amphibian embryo (1953) (26)
Identity of two syndromes. Proteolytic, lipolytic, and amylolytic deficiency of the exocrine pancreas with congenital anomalies. (1981) (26)
Cardiomyopathy of limb-girdle muscular dystrophy. (1994) (26)
An in-frame trinucleotide repeat in the coding region of the human cellular glutathione peroxidase (GPX1) gene: in vivo polymorphism and in vitro instability. (1994) (25)
Further heterogeneity of the oral-facial-digital syndromes. (1976) (25)
Double aneuploidy. Turner-Down syndrome. (1975) (24)
Hereditary methemoglobinemia: a new variant exhibiting dominant inheritance of methemoglobin A. (1961) (24)
XK aprosencephaly and anencephaly in sibs. (1988) (21)
Bilateral congenital mydriasis. (1976) (21)
TRISOMY 17-18--AN EVALUATION OF PRECONCEPTIONAL PARENTAL IRRADIATION AS A POSSIBLE ETIOLOGIC FACTOR. (1964) (21)
Norrie's disease (hereditary oculo-acoustic-cerebral degeneration). Report of a United States family. (1973) (19)
GENETICS OF THE URINARY PEPSINOGEN ISOZYMES (1975) (18)
The structure of higher eukaryotic chromosomes. (1973) (17)
Tetrasomy 21 in megakaryoblastic leukemia. (1994) (17)
AN XXYY VARIANT OF THE KLINEFELTER SYNDROME IN A PREPUBERTAL BODY. (1965) (17)
Pepsinogen 7 as an indicator of neonatal maturity: preliminary studies. (1972) (17)
D-E (13-15/17-18) translocation: occurrence in an infant with 45 chromosomes. (1965) (15)
Cytogenetics and genetics. (1968) (12)
Linkage data on urinary pepsinogen and the Kell blood group. (1975) (11)
Probable genetic linkage between a locus for human urinary pepsinogen and the HL-A loci. (1975) (10)
Fragile-X syndrome. A jigsaw puzzle with picture emerging. (1982) (9)
Further identification of a D/E translocation. (1975) (8)
Amylase polymorphism: studies of sera and duodenal aspirates in normal individuals and in cystic fibrosis. (1976) (8)
Carbohydrates in Cell Recognition Telltale surface sugars enable cells to identify and interact with one another . New drugs aimed at those carbohydrates could stop infection and inflammation (7)
Newborn screening: a potpourri of policies. (1986) (6)
Perspectives in cytogenetics. (1976) (6)
Pepsinogen polymorphism frequencies in a Negro population. (1974) (6)
Electrophoresis of human pyruvate kinase. (1968) (6)
Clinical Atlas of Human Chromosomes (1979) (6)
Inherited partial trisomy 8q (22 leads to qter). (1978) (6)
Letter: Cerebral gigantism. (1976) (5)
A PROBABLE G/G TRANSLOCATION TRISOMY. (1964) (5)
Cerebral abnormalities in the oral-facial-digital syndrome (1975) (5)
Transplacentally acquired erythrodontia. (1965) (5)
Congenital hypothyroidism and hyperthyroidism in monozygotic twin girls. (1971) (4)
Diagnostic problems in cerebral gigantism (3)
The genetics of orthopaedic conditions. (1967) (3)
Familial occurrence of malrotation of the intestine. (1962) (3)
4q- syndrome. (1979) (3)
Genetic health care. Community approach to delivery by demonstration satellite clinic project. (1979) (2)
More on anal deformities. (1977) (2)
Latent aneuploidy in father and grandfather of doubly aneuploid child: mongolism in a child with 48 chromosomes. (1968) (2)
Meconium plug syndrome, cystic fibrosis, and exocrine pancreatic deficiency. (1978) (2)
Preventive genetics and early therapeutic procedures in the control of birth defects. (1970) (1)
Response by Dr. Townes to Dr. Benke (1989) (1)
Book Review:New Aspects of Human Genetics. C. E. Ford, Harry Harris (1970) (0)
Textbook of Human Genetics (1972) (0)
Double Aneuploidy-Reply (1976) (0)
Letters to the editor: Isoamylase abnormalities in cystic fibrosis. (1977) (0)
Pepsinogen 7 as an indicator maturity: Preliminary studies of neonatal (1972) (0)
856 NORMAL INTELLIGENCE IN CHILD WITH 46, XY, r18/45, XY,-18 (1985) (0)
Norrie's Disease;: Reply (1974) (0)
The (laurence moon) bardet biedl syndrome. By T. Stiggelbout. Van Gorcum, Assen, The Netherlands. 143 pp. 1969 (1970) (0)
Advances in human genetics. VOl. I. By H. Harris and K. Hirschhorn, eds. Plenum, New York. 339 pp. 1970 (1972) (0)
Brief Pepsinogen Polymorphism Frequencies in a Negro Population (2006) (0)
Health of the American Indian: Papago Children (1970) (0)
Letter from Philip L. Townes to Victor A. McKusick (1971) (0)
Townes P L & Holtfreter J. Directed movements and selective adhesion of embryonic amphibian cells. J. Exp. Zool. 128:53-120, 1955 (2004) (0)
Society for Pediatric ResearchSpecial sessionTrypsinogen deficiency disease (1964) (0)
Human polymorphism. (1969) (0)
Linkage data on urinary pepsinogen and the Kell blood group. (1975) (0)
The Genetics of Mental Disorders (1972) (0)
Serum α1-Antitrypsin Variants (2015) (0)
865 PARENTAL PRECONCEPTIONAL IONIZING RADIATION AND ANEU-PLOID CHILDREN (1985) (0)
ANIMAL MODEL OF BENZOCAINE INDUCED METHEMOGLOBINEMIA (1984) (0)
References to the committee reports (1975) (0)
Congenital Dorsal Nasal Dysplasia: An Autosomal Dominant Aplasia or Hypoplasia of Nasal Bones and Hyperplasia of the Cartilaginous Nasal Dorsum That Can Be Reconstructed Safely by an Open Approach (1995) (0)
Symposium on genetics in clinical medicine. Foreword. (1969) (0)
Incomplete methylation of the FMR gene in amniotic cells (1994) (0)

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What Schools Are Affiliated With Philip L. Townes?

Philip L. Townes is affiliated with the following schools: