Literature DB >> 4577464

Phenotypic diversity of human diseases resulting from allelic series.

V A McKusick.   

Abstract

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Year:  1973        PMID： 4577464      PMCID： PMC1762449     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  31 in total

1.  Transfusion studies in von Willebrand's disease: effect on bleeding time and factor VIII.

Authors:  P CORNU; M J LARRIEU; J CAEN; J BERNARD
Journal:  Br J Haematol       Date:  1963-04       Impact factor: 6.998

2.  Linkage of color blindness to hemophilias A and B.

Authors:  D L WHITTAKER; D L COPELAND; J B GRAHAM
Journal:  Am J Hum Genet       Date:  1962-06       Impact factor: 11.025

3.  Properties and inheritance of haemoglobin by asymmetric recombination.

Authors:  H A ITANO; E ROBINSON
Journal:  Nature       Date:  1959-11-07       Impact factor: 49.962

4.  The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.

Authors:  N E MORTON
Journal:  Am J Hum Genet       Date:  1956-06       Impact factor: 11.025

5.  A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes.

Authors:  S Hickman; E F Neufeld
Journal:  Biochem Biophys Res Commun       Date:  1972-11-15       Impact factor: 3.575

6.  Observations suggesting allelism of the achondroplasia and hypochondroplasia genes.

Authors:  V A McKusick; T E Kelly; J P Dorst
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

7.  A new variant of the placental acid phosphatases: its implications regarding their subunit structures and genetical determination.

Authors:  D M Swallow; H Harris
Journal:  Ann Hum Genet       Date:  1972-11       Impact factor: 1.670

8.  Distinct subunits for the regulation and catalytic activity of aspartate transcarbamylase.

Authors:  J C Gerhart; H K Schachman
Journal:  Biochemistry       Date:  1965-06       Impact factor: 3.162

9.  Cystinuria: genetic heterogeneity and allelism.

Authors:  L E Rosenberg
Journal:  Science       Date:  1966-12-09       Impact factor: 47.728

10.  The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase.

Authors:  G Bach; R Friedman; B Weissmann; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1972-08       Impact factor: 11.205
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  14 in total

Review 1.  One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.

Authors:  Xiaolin Zhu; Anna C Need; Slavé Petrovski; David B Goldstein
Journal:  Nat Neurosci       Date:  2014-05-27       Impact factor: 24.884

Review 2.  Mucopolysaccharidoses and mucolipidoses.

Authors:  F Van Hoof
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

3.  The William Allan Memorial Award Lecture: Genetic nosology: three approaches.

Authors:  V A McKusick
Journal:  Am J Hum Genet       Date:  1978-03       Impact factor: 11.025

4.  Genetic heterogeneity in inherited disease.

Authors:  H Harris
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

5.  Isolation and analysis of somatic hybrids derived from two human diploid cells.

Authors:  B R Migeon; R A Norum; C M Corsaro
Journal:  Proc Natl Acad Sci U S A       Date:  1974-03       Impact factor: 11.205

6.  Acquired and heritable defects in collagen synthesis and fibrogenesis.

Authors:  V A McKusick; G E Martin; J R Lichtenstein; R P Penttinen; D W Rowe; M D Sussman; P H Byers
Journal:  Trans Am Clin Climatol Assoc       Date:  1974

7.  The growth and development of human genetics as a clinical discipline.

Authors:  V A McKusick
Journal:  Am J Hum Genet       Date:  1975-05       Impact factor: 11.025

Review 8.  Genetical load in man.

Authors:  G R Fraser; O Mayo
Journal:  Humangenetik       Date:  1974-07-15

9.  An unusual case of phospholipidosis.

Authors:  M Elleder; A Jirásek; F Smíd; K Harzer; D Schlegerová
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1978-04-17

10.  Niemann-Pick disease (variation in the sphingomyelinase deficient group). Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings.

Authors:  M Elleder; J Cihula
Journal:  Eur J Pediatr       Date:  1983-09       Impact factor: 3.183
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