PGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol

scientific article published on 01 September 2009

PGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/S1472-6483(10)60178-2
P698PubMed publication ID19778490

P50authorAspasia DestouniQ56250427
P2093author name stringG Kokkali
J Traeger-Synodinos
G Palmer
E Kanavakis
C Sofocleous
A Mavrou
C Vrettou
S Kitsiou
C Christofidou
K Kekou
P2860cites workPreimplantation genetic diagnosis in clinical practiceQ24679846
Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosisQ28250334
ESHRE PGD Consortium data collection VIII: cycles from January to December 2005 with pregnancy follow-up to October 2006.Q31163853
Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-thalassaemia: a pilot studyQ33270799
A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methodsQ33596808
Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplificationQ34321635
Current concepts in preimplantation genetic diagnosis (PGD): a molecular biologist's viewQ34544336
Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory proteinQ34666999
Preimplantation genetic diagnosis--an overviewQ36063017
Regulation of the steroidogenic acute regulatory protein expression: functional and physiological consequencesQ36074453
Preimplantation genetic diagnosis using fluorescent polymerase chain reaction: results and future developmentsQ36271718
Archival fixed and analysed preimplantation human embryonic cells: a DNA resource for retrospective PCR analysis at the cellular levelQ38475518
Deletion patterns of Duchenne and Becker muscular dystrophies in GreeceQ42063901
ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'.Q47626578
Mutation and haplotype analysis for Duchenne muscular dystrophy by single cell multiple displacement amplification.Q51756676
Multiple displacement amplification improves PGD for fragile X syndrome.Q51913935
Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease.Q52858843
Multiple genetic diagnoses from single cells using multiplex PCR: reliability and allele dropout.Q52866130
Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of beta-thalassaemia major.Q53677198
Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification.Q54577590
Optimization and evaluation of single-cell whole-genome multiple displacement amplification.Q54608075
Clinical application of multiple displacement amplification in preimplantation genetic diagnosis.Q54671643
Multiple displacement amplification on single cell and possible PGD applications.Q54698889
Specific detection of deleted and non-deleted dystrophin exons together with gender assignment in preimplantation genetic diagnosis of Duchenne muscular dystrophy.Q54768305
Skeletal, cardiac, and smooth muscle failure in Duchenne muscular dystrophyQ71127157
A widely applicable strategy for single cell genotyping of beta-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosisQ73414827
Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocolsQ73547269
Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determinationQ73825722
Using MF-PCR to diagnose multiple defects from single cells: implications for PGDQ74567642
Clinical experience of sex determination by fluorescent in-situ hybridization for preimplantation genetic diagnosisQ77734172
Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosisQ79988308
Preimplantation genetic diagnosisQ80093090
Preimplantation genetic diagnosis (PGD) for Duchenne muscular dystrophy (DMD) by triplex-nested PCRQ81624799
P433issue3
P304page(s)418-425
P577publication date2009-09-01
P1433published inReproductive BioMedicine OnlineQ15762964
P1476titlePGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol
P478volume19

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Q34070176Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplificationcites workP2860

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