Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1-Reference-Cited by-同舟云学术

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Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1

Published:2006-05-31 Issue:8 Volume:21 Page:2047-2051
ISSN:1460-2350
Container-title:Human Reproduction
language:en
Short-container-title:

Author:

Altarescu G.,Brooks B.,Kaplan Y.,Eldar-Geva T.,Margalioth E.J.,Levy-Lahad E.,Renbaum P.

Publisher

Oxford University Press (OUP)

Subject

Obstetrics and Gynecology,Rehabilitation,Reproductive Medicine

Link

http://academic.oup.com/humrep/article-pdf/21/8/2047/9680266/del064.pdf

Reference27 articles.

1. Single-molecule analysis of the hypermutable tetranucleotide repeat locus D21S1245 through sperm genotyping: a heterogeneous pattern of mutation but no clear male age effect;Brohede;Mol Biol Evol,2004

2. Neurofibromatosis type 1: a model condition for the study of the molecular basis of variable expressivity in human disorders;Carey;Am J Med Genet,1999

3. Tumor suppressor mutations and growth factor signaling in the pathogenesis of NF1-associated peripheral nerve sheath tumors. I. The role of tumor suppressor mutations;Carroll;J Neuropathol Exp Neurol,2004

4. Tumor suppressor mutations and growth factor signaling in the pathogenesis of NF1-associated peripheral nerve sheath tumors. II. The role of dysregulated growth factor signaling;Carroll;J Neuropathol Exp Neurol,2005

5. PGD and IVF. Oral presentation;Cohen;Sixth International Symposium on Preimplanation Genetics,2005

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience;European Journal of Human Genetics;2023-06-19

2. Using affected embryos to establish linkage phase in preimplantation genetic testing for thalassemia;Reproductive Biology and Endocrinology;2022-04-30

3. Affected-embryo-based SNP haplotyping with NGS for the preimplantation genetic testing of Marfan syndrome;Systems Biology in Reproductive Medicine;2021-05-30

4. Next-Generation Sequencing-Based Preimplantation Genetic Testing for De Novo NF1 Mutations;BioChip Journal;2021-02-22

5. The clinical application of single-sperm-based SNP haplotyping for PGD of osteogenesis imperfecta;Systems Biology in Reproductive Medicine;2018-05-15

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