Literature DB >> 3610145

Spermatogenesis in two patients with the fragile X syndrome. I. Histology: light and electron microscopy.

R Johannisson, H Rehder, V Wendt, E Schwinger.   

Abstract

Light and electron microscopic studies on testicular biopsies were carried out in two men, 40 and 44 year old, with the fra(X) form of mental retardation and macroorchidism. Distinct interstitial edema, an increased amount of lysosomal inclusions in Sertoli cells, and disturbance of spermatid differentiation were found in both probands. Additionally, some extent of tubular atrophy was demonstrated in one patient. The impairment of spermatogenesis is discussed with respect to pressure effects on the germinal epithelium due to the edema.

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Year:  1987        PMID： 3610145     DOI： 10.1007/bf00284911

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


  25 in total

1.  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

2.  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

3.  Gonadal function in men with the Martin-Bell (fragile-X) syndrome.

Authors:  G D Berkovitz; D P Wilson; N J Carpenter; T R Brown; C J Migeon
Journal:  Am J Med Genet       Date:  1986 Jan-Feb

4.  X-linked mental deficiency megalotestes syndrome.

Authors:  R H Ruvalcaba; S A Myhre; E C Roosen-Runge; J B Beckwith
Journal:  JAMA       Date:  1977-10-10       Impact factor: 56.272

5.  Consequences of vasectomy: an immunological and histological study related to subsequent fertility.

Authors:  I L Jenkins; V Y Muir; N J Blacklock; J L Turk; H G Hanley
Journal:  Br J Urol       Date:  1979-10

6.  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

7.  Benign macro-orchidism in a pubescent boy.

Authors:  D H Breen; G D Braunstein; N Neufeld; H Kudish
Journal:  J Urol       Date:  1981-04       Impact factor: 7.450

8.  X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.

Authors:  G Turner; A Daniel; M Frost
Journal:  J Pediatr       Date:  1980-05       Impact factor: 4.406

9.  High resolution ultrasound of macro-orchidism in mental retardation.

Authors:  L Hutton; R N Rankin; J Pozsonyi
Journal:  J Clin Ultrasound       Date:  1985-01       Impact factor: 0.910

10.  Evaluation of the ultrastructural changes in the human sertoli cell in testicular disorders and the relationship of the changes to the levels of serum FSH.

Authors:  D M de Kretser; J B Kerr; C A Paulsen
Journal:  Int J Androl       Date:  1981-04
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  5 in total

1.  Meiotic and sperm chromosome analysis in a male carrier of an inverted insertion (3;10)(q13.2;p14p13).

Authors:  A S Goldman; R H Martin; R Johannisson; C P Gould; E V Davison; J E Emslie; J Burn; M A Hultén
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

2.  Spermatogenesis in two patients with the fragile X syndrome. II. First meiosis: light and electron microscopy.

Authors:  R Johannisson; U Froster-Iskenius; N Saadallah; M A Hultén
Journal:  Hum Genet       Date:  1988-07       Impact factor: 4.132

3.  FMR1 CGG expansions: prevalence and sex ratios.

Authors:  Matthew J Maenner; Mei W Baker; Karl W Broman; Jianan Tian; Janel K Barnes; Anne Atkins; Elizabeth McPherson; Jinkuk Hong; Murray H Brilliant; Marsha R Mailick
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2013-06-05       Impact factor: 3.568

4.  A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response.

Authors:  Roman Alpatov; Bluma J Lesch; Mika Nakamoto-Kinoshita; Andres Blanco; Shuzhen Chen; Alexandra Stützer; Karim J Armache; Matthew D Simon; Chao Xu; Muzaffar Ali; Jernej Murn; Sladjana Prisic; Tatiana G Kutateladze; Christopher R Vakoc; Jinrong Min; Robert E Kingston; Wolfgang Fischle; Stephen T Warren; David C Page; Yang Shi
Journal:  Cell       Date:  2014-05-08       Impact factor: 41.582

Review 5.  The fragile X syndrome.

Authors:  B B de Vries; D J Halley; B A Oostra; M F Niermeijer
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318
  5 in total

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