Literature DB >> 7564250

Prenatal diagnosis for Canavan disease: the use of DNA markers.

R Matalon1, R Kaul, G P Gao, K Michals, R G Gray, S Bennett-Briton, A Norman, M Smith, C Jakobs.   

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Year:  1995        PMID： 7564250     DOI： 10.1007/BF00711770

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


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  9 in total

1.  Prenatal diagnosis of Canavan disease.

Authors:  R Matalon; K Michals; P Gashkoff; R Kaul
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Closing in on a breast cancer gene on chromosome 17q.

Authors:  J M Hall; L Friedman; C Guenther; M K Lee; J L Weber; D M Black; M C King
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

3.  Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid.

Authors:  R I Kelley
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

4.  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

5.  Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.

Authors:  M J Bennett; K M Gibson; W G Sherwood; P Divry; M O Rolland; O N Elpeleg; P Rinaldo; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  Allelic loss on chromosome 17 in human ovarian cancer.

Authors:  N Phillips; M Ziegler; B Saha; F Xynos
Journal:  Int J Cancer       Date:  1993-04-22       Impact factor: 7.396

7.  Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

Authors:  Y H Fu; D P Kuhl; A Pizzuti; M Pieretti; J S Sutcliffe; S Richards; A J Verkerk; J J Holden; R G Fenwick; S T Warren
Journal:  Cell       Date:  1991-12-20       Impact factor: 41.582

8.  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

Review 9.  Canavan disease: biochemical and molecular studies.

Authors:  R Matalon; R Kaul; K Michals
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
  9 in total
  5 in total

Review 1.  Biochemistry and molecular biology of Canavan disease.

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

2.  Gene therapy for Canavan's disease takes a step forward.

Authors:  Seemin S Ahmed; Guangping Gao
Journal:  Mol Ther       Date:  2013-03       Impact factor: 11.454

3.  Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination.

Authors:  Natalia S Mattan; Cristina A Ghiani; Marcia Lloyd; Reuben Matalon; Dean Bok; Patrizia Casaccia; Jean de Vellis
Journal:  Neurobiol Dis       Date:  2010-07-14       Impact factor: 5.996

4.  Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease.

Authors:  Alessandra Colaianni; Subhashini Chandrasekharan; Robert Cook-Deegan
Journal:  Genet Med       Date:  2010-04       Impact factor: 8.822

Review 5.  Canavan's spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature.

Authors:  Leon Rossler; Stefan Lemburg; Almut Weitkämper; Charlotte Thiels; Sabine Hoffjan; Huu Phuc Nguyen; Thomas Lücke; Christoph M Heyer
Journal:  J Ultrasound       Date:  2022-02-20
  5 in total

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