Literature DB >> 3236352

A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.

I K Jalili1, N J Smith.   

Abstract

Twenty-nine members of an extended Arab family from the Gaza Strip were found to be affected with cone-rod dystrophy and amelogenesis imperfecta, inherited in an autosomal recessive manner.

Entities:  

Mesh：

Year:  1988        PMID： 3236352      PMCID： PMC1051576          DOI： 10.1136/jmg.25.11.738

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


  3 in total

Review 1.  The cone degenerations.

Authors:  A E Krill; A F Deutman; M Fishman
Journal:  Doc Ophthalmol       Date:  1973-04-16       Impact factor: 2.379

2.  A computerised data base for the diagnosis of rare dysmorphic syndromes.

Authors:  R M Winter; M Baraitser; J M Douglas
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

3.  Heterogeneity of retinal degeneration and hearing impairment syndromes.

Authors:  J B Bateman; E D Riedner; L S Levin; I H Maumenee
Journal:  Am J Ophthalmol       Date:  1980-12       Impact factor: 5.258
  3 in total
  23 in total

1.  Cone and cone-rod dystrophies.

Authors:  A T Moore
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

2.  Increased band sharing in DNA fingerprints of an inbred human population.

Authors:  R J Bellamy; C F Inglehearn; I K Jalili; A J Jeffreys; S S Bhattacharya
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

3.  A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q.

Authors:  M Papaioannou; D Bessant; A Payne; J Bellingham; C Rougas; A Loutradis-Anagnostou; C Gregory-Evans; A Balassopoulou; S Bhattacharya
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

4.  Intra-familial phenotype variability in patients with Jalili syndrome.

Authors:  C Gerth-Kahlert; B Seebauer; S Dold; J V M Hanson; H Wildberger; A Spörri; H van Waes; W Berger
Journal:  Eye (Lond)       Date:  2015-01-23       Impact factor: 3.775

5.  A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.

Authors:  S Rahimi-Aliabadi; N Daftarian; H Ahmadieh; B Emamalizadeh; J Jamshidi; A Tafakhori; H Ghaedi; R Noroozi; S Taghavi; A Ahmadifard; E Alehabib; M Andarva; P Shokraeian; M Atakhorrami; H Darvish
Journal:  Eye (Lond)       Date:  2016-07-15       Impact factor: 3.775

6.  Psychosocial genetics: an emerging scientific discipline.

Authors:  P S Harper
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

7.  Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

Authors:  Karin W Littink; Robert K Koenekoop; L Ingeborgh van den Born; Rob W J Collin; Luminita Moruz; Joris A Veltman; Susanne Roosing; Marijke N Zonneveld; Amer Omar; Mahshad Darvish; Irma Lopez; Hester Y Kroes; Maria M van Genderen; Carel B Hoyng; Klaus Rohrschneider; Mary J van Schooneveld; Frans P M Cremers; Anneke I den Hollander
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-06-16       Impact factor: 4.799

8.  Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

Authors:  Bozena Polok; Pascal Escher; Aude Ambresin; Eliane Chouery; Sylvain Bolay; Isabelle Meunier; Francis Nan; Christian Hamel; Francis L Munier; Bernard Thilo; André Mégarbané; Daniel F Schorderet
Journal:  Am J Hum Genet       Date:  2009-02-05       Impact factor: 11.025

9.  Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition.

Authors:  I K Jalili
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

Review 10.  Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases.

Authors:  A H Bittles; M L Black
Journal:  Proc Natl Acad Sci U S A       Date:  2009-09-23       Impact factor: 11.205
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