Literature DB >> 6724586

Mean corpuscular hemoglobin is increased in Martin-Bell syndrome.

U Langenbeck, J Schmidtke, I Bartels, I Hansmann, H Knüppel.   

Abstract

Studying the blood picture of 11 patients with Martin-Bell syndrome, we found the erythrocytes relatively hyperchromic when compared to the data from 171 matched controls living in the same institution. Because mean corpuscular hemoglobin is increased also in patients with folic acid deficiency states, we feel that our data provide further evidence that Martin-Bell syndrome is an inherited disease of folate metabolism.

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Year:  1984        PMID： 6724586     DOI： 10.1007/BF00287643

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  13 in total

Review 1.  Genetic aspects of folate metabolism.

Authors:  R W Erbe
Journal:  Adv Hum Genet       Date:  1979

2.  The fragile X: a scanning electron microscope study.

Authors:  C J Harrison; E M Jack; T D Allen; R Harris
Journal:  J Med Genet       Date:  1983-08       Impact factor: 6.318

Review 3.  Nonspecific X-linked mental retardation--a review.

Authors:  G Tariverdian; B Weck
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  Expression of the fragile site Xq27 in fibroblasts. II. Evidence for negative and positive clones from heterozygous females and possible relationship between frequency and phenotype.

Authors:  P Steinbach; G Barbi; S Baur; W Vogel
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

5.  Fragile (X) X-linked mental retardation I: relationship between age and intelligence and the frequency of expression of fragil (X)(q28).

Authors:  A E Chudley; J Knoll; J W Gerrard; L Shepel; E McGahey; J Anderson
Journal:  Am J Med Genet       Date:  1983-04

6.  Expression of fra(X)(q28) is suppressed in man-mouse hybrid cells.

Authors:  R D Wegner; B Geiseler; K Sperling
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

7.  [X chromosome fragility and effects of trimethoprim].

Authors:  J Lejeune; N Legrand; J Lafourcade; M O Rethoré; O Raoul; C Maunoury
Journal:  Ann Genet       Date:  1982

8.  On the nature of folic-acid-sensitive fragile sites in human chromosomes: an hypothesis.

Authors:  C L Krumdieck; P N Howard-Peebles
Journal:  Am J Med Genet       Date:  1983-09

9.  Fragile X expression studied by clonal analysis and somatic cell hybridization.

Authors:  E M Bryant; G M Martin; H Hoehn
Journal:  Cytogenet Cell Genet       Date:  1983

10.  Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).

Authors:  G Turner; R Brookwell; A Daniel; M Selikowitz; M Zilibowitz
Journal:  N Engl J Med       Date:  1980-09-18       Impact factor: 91.245
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  1 in total

1.  Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice.

Authors:  E Reyniers; D R Van Bockstaele; K De Boulle; R F Kooy; C E Bakker; B A Oostra; P J Willems
Journal:  Hum Genet       Date:  1996-01       Impact factor: 4.132
  1 in total

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