Literature DB >> 2805379

Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16.

H Eiberg1, R M Gardiner, J Mohr.   

Abstract

In a material of 26 Caucasian families, 23 with at least 2 children affected with Batten disease, we found a lod score of 3.00 at theta = 0.00 in males and theta = 0.26 in females with haptoglobin (HP), and assign the locus for Batten disease to 16q22.

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Year:  1989        PMID： 2805379     DOI： 10.1111/j.1399-0004.1989.tb03193.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  12 in total

Review 1.  Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Authors:  Sara E Mole; Ruth E Williams; Hans H Goebel
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Review 2.  The human genome: a prospect for paediatrics.

Authors:  R M Gardiner
Journal:  Arch Dis Child       Date:  1990-04       Impact factor: 3.791

3.  Refined genetic mapping of juvenile-onset neuronal ceroid-lipofuscinosis on chromosome 16.

Authors:  H M Mitchison; R E Williams; T R McKay; D F Callen; A D Thompson; J C Mulley; R L Stallings; C E Hildebrand; R K Moyzis; I Järvelä
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  CLN3 is required for the clearance of glycerophosphodiesters from lysosomes.

Authors:  David M Sabatini; Monther Abu-Remaileh; Nouf N Laqtom; Wentao Dong; Uche N Medoh; Andrew L Cangelosi; Vimisha Dharamdasani; Sze Ham Chan; Tenzin Kunchok; Caroline A Lewis; Ivonne Heinze; Rachel Tang; Christian Grimm; An N Dang Do; Forbes D Porter; Alessandro Ori
Journal:  Nature       Date:  2022-09-21       Impact factor: 69.504

5.  Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.

Authors:  T J Lerner; R M Boustany; K MacCormack; J Gleitsman; K Schlumpf; X O Breakefield; J F Gusella; J L Haines
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

6.  Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.

Authors:  R Williams; J Vesa; I Järvelä; T McKay; H Mitchison; E Hellsten; A Thompson; D Callen; G Sutherland; D Luna-Battadano
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

7.  Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16.

Authors:  W Yan; R M Boustany; C Konradi; L Ozelius; T Lerner; J A Trofatter; C Julier; X O Breakefield; J F Gusella; J L Haines
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

8.  A yeast model for the study of Batten disease.

Authors:  D A Pearce; F Sherman
Journal:  Proc Natl Acad Sci U S A       Date:  1998-06-09       Impact factor: 11.205

Review 9.  Genetic analysis of Batten disease.

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

10.  Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12.

Authors:  D F Callen; E Baker; S Lane; J Nancarrow; A Thompson; S A Whitmore; D H MacLennan; R Berger; D Cherif; I Järvelä
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025
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