Literature DB >> 1240971

X-linked mental retardation associated with macro-orchidism.

G Turner, C Eastman, J Casey, A McLeay, P Procopis, B Turner.   

Abstract

Two families are described with an X-linked form of mental retardation in whom the affected males were found to have bilateral enlargement of the testes. No conclusive evidence of any endocrinological disturbance was found.

Entities:  

Mesh：

Year:  1975        PMID： 1240971      PMCID： PMC1013315          DOI： 10.1136/jmg.12.4.367

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  15 in total

1.  Within-family standards for birth-weight.

Authors:  J M Tanner; H Lejarraga; M J Healy
Journal:  Lancet       Date:  1972-12-16       Impact factor: 79.321

2.  X-linked mental retardation without physical abnormality (Renpenning's syndrome) in sibs in an institution.

Authors:  G Turner; B Engisch; D G Lindsay; B Turner
Journal:  J Med Genet       Date:  1972-09       Impact factor: 6.318

3.  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

4.  Growth hormone release during sleep in growth retarded children.

Authors:  C J Eastman; L Lazarus
Journal:  Arch Dis Child       Date:  1973-07       Impact factor: 3.791

5.  Benign bilateral testicular enlargement.

Authors:  B C Nisula; D L Loriaux; R J Sherins; H E Kulin
Journal:  J Clin Endocrinol Metab       Date:  1974-03       Impact factor: 5.958

6.  X-linked mental retardation.

Authors:  G Turner; B Turner
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

7.  X-linked mental retardation without physical abnormality: Renpenning's syndrome.

Authors:  G Turner; B Turner; E Collins
Journal:  Dev Med Child Neurol       Date:  1971-02       Impact factor: 5.449

8.  Juvenile hypothyroidism with testicular enlargement.

Authors:  Z Laron; M Karp; L Dolberg
Journal:  Acta Paediatr Scand       Date:  1970-05

9.  Radioimmunoassay of luteinising hormone in human serum.

Authors:  L Lazarus; J D Young
Journal:  Aust J Exp Biol Med Sci       Date:  1968-12

10.  Growth hormone and growth in man.

Authors:  A Prader
Journal:  Triangle       Date:  1966
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  27 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.  X-linked mental retardation with macro-orchidism and the fragile site at Xq 27 or 28.

Authors:  G R Sutherland; P L Ashforth
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

4.  Adult fragile X syndrome. Clinico-neuropathologic findings.

Authors:  R D Rudelli; W T Brown; K Wisniewski; E C Jenkins; M Laure-Kamionowska; F Connell; H M Wisniewski
Journal:  Acta Neuropathol       Date:  1985       Impact factor: 17.088

5.  Clinico-neurological investigations in the fra(X) form of mental retardation.

Authors:  P Vieregge; U Froster-Iskenius
Journal:  J Neurol       Date:  1989-02       Impact factor: 4.849

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

Authors:  R Johannisson; H Rehder; V Wendt; E Schwinger
Journal:  Hum Genet       Date:  1987-06       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.  Fragile X chromosome: clinical and cytogenetic studies on cases from seven families.

Authors:  A McDermott; R Walters; R T Howell; A Gardner
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

10.  Demonstration of the fra(X) in lymphocytes, fibroblasts, and bone marrow in a patient with a testicular tumour.

Authors:  B C Del Pozo; P R Millard
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318
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