Literature DB >> 572332

X-linked mental retardation with macro-orchidism and the fragile site at Xq 27 or 28.

G R Sutherland, P L Ashforth.   

Abstract

Data are presented suggesting that the form of X-linked mental retardation with macro-orchidism and the form associated with a fragile site at Xq27 or 28 are the same entity.

Entities:  

Mesh：

Year:  1979        PMID： 572332     DOI： 10.1007/bf00273283

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


  9 in total

1.  Measurement of testicular volume. Its application to assessment of maturation, and its use in diagnosis of hypogonadism.

Authors:  A T RUNDLE; P E SYLVESTER
Journal:  Arch Dis Child       Date:  1962-10       Impact factor: 3.791

2.  X-linked mental retardation associated with macro-orchidism.

Authors:  G Turner; C Eastman; J Casey; A McLeay; P Procopis; B Turner
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

3.  Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.

Authors:  G R Sutherland
Journal:  Science       Date:  1977-07-15       Impact factor: 47.728

4.  Inherited congenital normofunctional testicular hyperplasia and mental deficiency.

Authors:  J M Cantú; H E Scaglia; M Medina; M González-Diddi; T Morato; M E Moreno; G Pérez-Palacios
Journal:  Hum Genet       Date:  1976-07-07       Impact factor: 4.132

5.  Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

6.  Testicular volume during adolescence. Cross-sectional and longitudinal studies.

Authors:  M Zachmann; A Prader; H P Kind; H Häfliger; H Budliger
Journal:  Helv Paediatr Acta       Date:  1974-04

7.  Basic morphological data of external genitals in 177 healthy Central European men.

Authors:  L G Farkas
Journal:  Am J Phys Anthropol       Date:  1971-05       Impact factor: 2.868

8.  Inherited congenital normofunctional testicular hyperplasia and mental deficiency. A corroborative study.

Authors:  J M Cantú; H E Scaglia; M González-Diddi; P Hernández-Jáuregui; T Morato; M E Moreno; J Giner; A Alcántar; D Herrera; G Pérez-Palacios
Journal:  Hum Genet       Date:  1978-04-24       Impact factor: 4.132

9.  Familial X-linked mental retardation with an X chromosome abnormality.

Authors:  J Harvey; C Judge; S Wiener
Journal:  J Med Genet       Date:  1977-02       Impact factor: 6.318
  9 in total
  32 in total

1.  Symposium on genetics.

Authors:  B J Culliton; W K Waterfall
Journal:  Br Med J       Date:  1979-10-27

2.  Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.

Authors:  M A Voelckel; N Philip; C Piquet; M C Pellissier; I Oberlé; F Birg; M G Mattei; J F Mattei
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

3.  Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).

Authors:  K E Davies; M G Mattei; J F Mattei; H Veenema; S McGlade; K Harper; N Tommerup; K B Nielsen; M Mikkelsen; P Beighton
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

Review 4.  Recent advances in assays for the fragile X-related disorders.

Authors:  Bruce E Hayward; Daman Kumari; Karen Usdin
Journal:  Hum Genet       Date:  2017-09-02       Impact factor: 4.132

5.  5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.

Authors:  N Tommerup; H Poulsen; K Brøndum-Nielsen
Journal:  J Med Genet       Date:  1981-10       Impact factor: 6.318

Review 6.  The fragile X syndrome: the patients and their chromosomes.

Authors:  M A De Arce; A Kearns
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

7.  Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives.

Authors:  G R Sutherland
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

8.  Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation.

Authors:  G C Webb; J L Halliday; D B Pitt; C G Judge; M Leversha
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

9.  X-linked mental retardation with the fragile X. A study of 15 families.

Authors:  J F Mattei; M G Mattei; C Aumeras; M Auger; F Giraud
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

10.  The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome.

Authors:  Daman Kumari; Valentina Somma; Asako J Nakamura; William M Bonner; Ettoré D'Ambrosio; Karen Usdin
Journal:  Nucleic Acids Res       Date:  2009-05-21       Impact factor: 16.971
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