Literature DB >> 8411993

Refined assignment of the infantile neuronal ceroid-lipofuscinosis (INCL) locus at 1p32 and the current status of prenatal and carrier diagnostics.

E Hellsten1, J Vesa, I Järvelä, T P Mäkelä, P Santavuori, L Peltonen.   

Abstract

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Year:  1993        PMID： 8411993     DOI： 10.1007/bf00710277

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  9 in total

1.  Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus.

Authors:  I Järvelä
Journal:  Genomics       Date:  1991-06       Impact factor: 5.736

2.  An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32.

Authors:  T P Mäkelä; E Hellsten; J Vesa; K Alitalo; L Peltonen
Journal:  Hum Mol Genet       Date:  1992-06       Impact factor: 6.150

3.  Infantile type of so-called neuronal ceroid-lipofuscinosis.

Authors:  P Santavuori; M Haltia; J Rapola
Journal:  Dev Med Child Neurol       Date:  1974-10       Impact factor: 5.449

4.  Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies.

Authors:  M Haltia; J Rapola; P Santavuori; A Keränen
Journal:  J Neurol Sci       Date:  1973-03       Impact factor: 3.181

5.  DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).

Authors:  I Järvelä; J Rapola; L Peltonen; L Puhakka; J Vesa; P Ammälä; R Salonen; M Ryynänen; P Haring; A Mustonen
Journal:  Prenat Diagn       Date:  1991-05       Impact factor: 3.050

6.  Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi.

Authors:  J Rapola; R Salonen; P Ammälä; P Santavuori
Journal:  Prenat Diagn       Date:  1990-09       Impact factor: 3.050

Review 7.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Authors:  D Botstein; R L White; M Skolnick; R W Davis
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025

Review 8.  Neuronal ceroid-lipofuscinoses in childhood.

Authors:  P Santavuori
Journal:  Brain Dev       Date:  1988       Impact factor: 1.961

9.  A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification.

Authors:  J Vesa; E Hellsten; T P Mäkelä; I Järvelä; T Airaksinen; P Santavuori; L Peltonen
Journal:  Eur J Hum Genet       Date:  1993       Impact factor: 4.246
  9 in total
  1 in total

Review 1.  Genetic analysis of Batten disease.

Authors:  R M Gardiner
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  1 in total

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