Literature DB >> 868879

Genetic epidemiology of Lesch-Nyhan disease.

N E Morton, J M Lalouel.   

Abstract

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Year:  1977        PMID： 868879      PMCID： PMC1685301     

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


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  10 in total

1.  Sporadic cases of hemophilia and the question of a possible sex difference in mutation rates.

Authors:  N KOSOWER; R CHRISTIANSEN; N E MORTON
Journal:  Am J Hum Genet       Date:  1962-06       Impact factor: 11.025

2.  Formal genetics of muscular dystrophy.

Authors:  N E MORTON; C S CHUNG
Journal:  Am J Hum Genet       Date:  1959-12       Impact factor: 11.025

3.  Segregation analysis in human genetics.

Authors:  N E MORTON
Journal:  Science       Date:  1958-01-10       Impact factor: 47.728

4.  Carrier detection in Duchenne muscular dystrophy.

Authors:  A D Roses; M J Roses; S E Miller; K L Hull; S H Appel
Journal:  N Engl J Med       Date:  1976-01-22       Impact factor: 91.245

Review 5.  Diagnosis and treatment of the Lesch-Nyhan syndrome.

Authors:  J C Crawhall; J F Henderson; W N Kelley
Journal:  Pediatr Res       Date:  1972-05       Impact factor: 3.756

6.  The effect of parental age on rates of mutation for hemophilia and evidence for differing mutation rates for hemophilia A and B.

Authors:  I Barrai; H M Cann; L L Cavalli-Sforza; P De Nicola
Journal:  Am J Hum Genet       Date:  1968-05       Impact factor: 11.025

Review 7.  Spontaneous mutation in man.

Authors:  F Vogel; R Rathenberg
Journal:  Adv Hum Genet       Date:  1975

Review 8.  Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).

Authors:  J E Seegmiller
Journal:  Adv Hum Genet       Date:  1976

9.  The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

Authors:  U Francke; J Felsenstein; S M Gartler; B R Migeon; J Dancis; J E Seegmiller; F Bakay; W L Nyhan
Journal:  Am J Hum Genet       Date:  1976-03       Impact factor: 11.025

10.  The sporadic case of haemophilia A.

Authors:  R Biggs; C R Rizza
Journal:  Lancet       Date:  1976-08-28       Impact factor: 79.321
  10 in total
  14 in total

1.  Relation between creatinine and uric acid excretion.

Authors:  Y Nishida
Journal:  Ann Rheum Dis       Date:  1992-01       Impact factor: 19.103

2.  Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.

Authors:  D Sinnett; L Lavergne; S B Melançon; L Dallaire; M Potier; D Labuda
Journal:  Hum Genet       Date:  1988-12       Impact factor: 4.132

3.  A probable sex difference in some mutation rates.

Authors:  F Vogel
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

Review 4.  Lesch-Nyhan Syndrome: Models, Theories, and Therapies.

Authors:  Scott Bell; Ilaria Kolobova; Liam Crapper; Carl Ernst
Journal:  Mol Syndromol       Date:  2016-09-24

5.  Genetic drift in sex-linked lethal disorders.

Authors:  M Slatkin; G Thomson; S Sawyer
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

6.  A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia.

Authors:  M Nakata; H Koshiba; K Eto; W E Nance
Journal:  Am J Hum Genet       Date:  1980-11       Impact factor: 11.025

7.  Effect of reproductive compensation and the desire to have male offspring on the incidence of a sex-linked lethal disease.

Authors:  A R Templeton; S Yokoyama
Journal:  Am J Hum Genet       Date:  1980-07       Impact factor: 11.025

8.  Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27 beta.

Authors:  G de Saint Basile; L D Notarangelo; C Bonaiti-Pellié; M Doussau; O Prolini; I W Craig; A Ugazio; C Griscelli; A Fischer
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

9.  A probable sex difference in mutation rates in ornithine transcarbamylase deficiency.

Authors:  C Bonaïti-Pellié; A Pelet; H Ogier; J R Nelson; C Largillière; J Berthelot; J M Saudubray; A Munnich
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

10.  Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

Authors:  S L Sherman; P A Jacobs; N E Morton; U Froster-Iskenius; P N Howard-Peebles; K B Nielsen; M W Partington; G R Sutherland; G Turner; M Watson
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
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