Literature DB >> 5046629

Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.

S A Mirhosseini, L B Holmes, D S Walton.   

Abstract

Entities:  

Mesh：

Year:  1972        PMID： 5046629      PMCID： PMC1469024          DOI： 10.1136/jmg.9.2.193

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


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  10 in total

1.  THE METACARPAL INDEX. A USEFUL AID IN THE DIAGNOSIS OF THE MARFAN SYNDROME.

Authors:  R ELDRIDGE
Journal:  Arch Intern Med       Date:  1964-02

2.  Laurence-Moon-Biedl syndrome. Report of an unusual family.

Authors:  E C CICCARELLI; E S VESELL
Journal:  Am J Dis Child       Date:  1961-04

3.  Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study.

Authors:  B HALLGREN
Journal:  Acta Psychiatr Scand Suppl       Date:  1959

4.  Familial spastic paraplegia with amyotrophy, oligophrenia, and central retinal degeneration.

Authors:  K KJELLIN
Journal:  Arch Neurol       Date:  1959-08

5.  Rapid micro-modification of the Zimmermann/Callow procedure for the determination of 17-ketosteroids in urine.

Authors:  P VESTERGAARD
Journal:  Acta Endocrinol (Copenh)       Date:  1951

6.  The Laurence-Moon-Biedl syndrome. Report of a typical case with complete necropsy.

Authors:  T BISLAND
Journal:  Am J Ophthalmol       Date:  1951-06       Impact factor: 5.258

7.  Radioimmunoassay of human follicle stimulating and luteinizing hormones in plasma.

Authors:  B B Saxena; H Demura; H M Gandy; R E Peterson
Journal:  J Clin Endocrinol Metab       Date:  1968-04       Impact factor: 5.958

8.  Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities.

Authors:  R L Weinstein; B Kliman; R E Scully
Journal:  N Engl J Med       Date:  1969-10-30       Impact factor: 91.245

9.  A simple screening test for the Marfan syndrome.

Authors:  I Steinberg
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1966-05

10.  Chorioretinopathy with hereditary microcephaly.

Authors:  V A McKusick; M Stauffer; D L Knox; D B Clark
Journal:  Arch Ophthalmol       Date:  1966-05
  10 in total
  4 in total

1.  Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome.

Authors:  Hans Christian Hennies; Anita Rauch; Wenke Seifert; Christian Schumi; Elisabeth Moser; Eva Al-Taji; Gholamali Tariverdian; Krystyna H Chrzanowska; Malgorzata Krajewska-Walasek; Anna Rajab; Roberto Giugliani; Thomas E Neumann; Katja M Eckl; Mohsen Karbasiyan; André Reis; Denise Horn
Journal:  Am J Hum Genet       Date:  2004-05-20       Impact factor: 11.025

2.  Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance.

Authors:  R C Hennekam; A G van de Meeberg; J M van Doorne; P F Dijkstra; J B Bijlsma
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

3.  A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24.

Authors:  S J Mitchell; D P McHale; D A Campbell; N J Lench; R F Mueller; S E Bundey; A F Markham
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

Review 4.  Cohen Syndrome: Review of the Literature.

Authors:  Jonathan M Rodrigues; Hermina D Fernandes; Carrie Caruthers; Stephen R Braddock; Alan P Knutsen
Journal:  Cureus       Date:  2018-09-18
  4 in total

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