Carrier detection of Batten disease (Juvenile neuronal ceroid-lipofuscinosis)-Reference-Cited by-同舟云学术

Carrier detection of Batten disease (Juvenile neuronal ceroid-lipofuscinosis)

Published:1995-06 Issue:2 Volume:57 Page:333-337
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Taschner Peter E. M.,de Vos Nanneke,Post Jan G.,Meijers-Heijboer E. Johanna,Hofman Irene,Loonen M. Christa B.,Pinckers Alfred J. L. G.,Bleeker-Wagemakers Elisabeth M.,Gardiner R. Mark,Breuning Martijn H.

Publisher

Wiley

Subject

Genetics (clinical)

Reference16 articles.

1. Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.

2. Diagnosis of Neuronal Ceroid Lipofuscinosis by Ultrastructural Examination of Peripheral Blood Lymphocytes

3. First-trimester diagnosis of juvenile neuronal ceroid lipofuscinosis by demonstration of fingerprint inclusions in chorionic villi

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

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1. Phenotypic and Evolutionary Consequences of Deletion, Duplication, and Triplication at 16p11.2;SSRN Electronic Journal;2018

2. With expanded carrier screening, founder populations run the risk of being overlooked;Journal of Community Genetics;2017-05-29

3. Founder mutations among the Dutch*;De Nederlandse gezondheidszorg;2013

4. Exposing the Limitations of Disability Theory: The Case of Juvenile Batten Disease;Social Theory & Health;2005-04-25

5. Founder mutations among the Dutch;European Journal of Human Genetics;2004-03-10