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PGD for germline mosaicism

Published:2012-10 Issue:4 Volume:25 Page:390-395
ISSN:1472-6483
Container-title:Reproductive BioMedicine Online
language:en
Short-container-title:Reproductive BioMedicine Online

Author:

Altarescu Gheona,Beeri Rachel,Eldar-Geva Talia,Varshaver Irit,Margalioth Ehud J.,Levy-Lahad Ephrat,Renbaum Paul

Publisher

Elsevier BV

Subject

Developmental Biology,Reproductive Medicine,Obstetrics and Gynecology

Reference23 articles.

1. Single-sperm analysis for haplotype construction of de-novo paternal mutations: application to PGD for neurofibromatosis type 1;Altarescu;Hum. Reprod.,2006

2. PGD on a recombinant allele: crossover between the TSC2 gene and ‘linked’ markers impairs accurate diagnosis;Altarescu;Prenat. Diagn.,2008

3. Successful polar body-based preimplantation genetic diagnosis for achondroplasia;Altarescu;Reprod. Biomed. Online,2008

4. Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations;Altarescu;Hum. Reprod.,2009

5. Germinal mosaicism increases the recurrence risk for ‘new’ Duchenne muscular dystrophy mutations;Bakker;J. Med. Genet.,1989

Cited by 10 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. Chinese experts’ consensus guideline on preimplantation genetic testing of monogenic disorders;Human Reproduction;2023-11-01

2. “Oncocytoid Renal Cell Carcinomas After Neuroblastoma” Represent TSC-mutated Eosinophilic Solid and Cystic Renal Cell Carcinomas;American Journal of Surgical Pathology;2023-08-01

3. Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms;Orphanet Journal of Rare Diseases;2023-06-03

4. Preimplantation genetic testing for recurrent autosomal dominant osteogenesis imperfecta associated with paternal gonosomal mosaicism;Frontiers in Genetics;2022-10-05

5. Next‐generation sequence‐based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism;Molecular Genetics & Genomic Medicine;2021-05-04

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