Literature DB >> 7485179

Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population.

D Kronn, C Oddoux, J Phillips, H Ostrer.   

Abstract

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Year:  1995        PMID： 7485179      PMCID： PMC1801394     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  7 in total

1.  Tay-Sachs disease: heterozygote screening and prenatal diagnosis--U.S. experience and world perspective.

Authors:  M M Kaback; T J Nathan; S Greenwald
Journal:  Prog Clin Biol Res       Date:  1977

2.  Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease.

Authors:  R Matalon; K Michals; D Sebesta; M Deanching; P Gashkoff; J Casanova
Journal:  Am J Med Genet       Date:  1988-02

3.  The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.

Authors:  O N Elpeleg; Y Anikster; V Barash; D Branski; A Shaag
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

4.  Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.

Authors:  M Kaback; J Lim-Steele; D Dabholkar; D Brown; N Levy; K Zeiger
Journal:  JAMA       Date:  1993-11-17       Impact factor: 56.272

5.  Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution.

Authors:  R Kaul; K Balamurugan; G P Gao; R Matalon
Journal:  Genomics       Date:  1994-05-15       Impact factor: 5.736

6.  Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

Authors:  R Kaul; G P Gao; K Balamurugan; R Matalon
Journal:  Nat Genet       Date:  1993-10       Impact factor: 38.330

7.  Canavan disease: mutations among Jewish and non-Jewish patients.

Authors:  R Kaul; G P Gao; M Aloya; K Balamurugan; A Petrosky; K Michals; R Matalon
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025
  7 in total
  9 in total

1.  Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection.

Authors:  Neil Risch; Hua Tang; Howard Katzenstein; Josef Ekstein
Journal:  Am J Hum Genet       Date:  2003-02-24       Impact factor: 11.025

Review 2.  Biochemistry and molecular biology of Canavan disease.

Authors:  R Matalon; K Michals-Matalon
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

3.  Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

Authors:  R Kaul; G P Gao; R Matalon; M Aloya; Q Su; M Jin; A B Johnson; R B Schutgens; J T Clarke
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

4.  Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: a genetic study of 15 185delAG-mutation kindreds.

Authors:  D B Berman; J Wagner-Costalas; D C Schultz; H T Lynch; M Daly; A K Godwin
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

Review 5.  Dentate Update: Imaging Features of Entities That Affect the Dentate Nucleus.

Authors:  K M Bond; W Brinjikji; L J Eckel; D F Kallmes; R J McDonald; C M Carr
Journal:  AJNR Am J Neuroradiol       Date:  2017-04-13       Impact factor: 3.825

6.  A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.

Authors:  Rashida Hussain; Shakeela Daud; Naseebullah Kakar; Adeel Ahmad; Abdul Hameed Baloch; Abdul Malik Tareen; Muhammad Azam Kakar; Jamil Ahmad
Journal:  Mol Biol Rep       Date:  2012-01-05       Impact factor: 2.316

7.  Mutational analysis of aspartoacylase: implications for Canavan disease.

Authors:  Jeremy R Hershfield; Nagarajan Pattabiraman; Chikkathur N Madhavarao; M A Aryan Namboodiri
Journal:  Brain Res       Date:  2007-03-03       Impact factor: 3.252

8.  Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Authors:  Marisa I Mendes; Desirée Ec Smith; Ana Pop; Pascal Lennertz; Matilde R Fernandez Ojeda; Warsha A Kanhai; Silvy Jm van Dooren; Yair Anikster; Ivo Barić; Caroline Boelen; Jaime Campistol; Lonneke de Boer; Ariana Kariminejad; Hulya Kayserili; Agathe Roubertie; Krijn T Verbruggen; Christine Vianey-Saban; Monique Williams; Gajja S Salomons
Journal:  Hum Mutat       Date:  2017-02-14       Impact factor: 4.878

9.  Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma.

Authors:  Ana Maria Marques; Galina Ananina; Vital Paulino Costa; José Paulo Cabral de Vasconcellos; Mônica Barbosa de Melo
Journal:  PLoS One       Date:  2018-11-16       Impact factor: 3.240
  9 in total

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