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Academic Journal

Prenatal and preimplantation diagnosis of hemoglobinopathies.

  • Authors : Vrettou C; Department of Medical Genetics, National and Kapodistrian University of Athens, Athens, Greece.; Kakourou G

Subjects: Hemoglobinopathies/Hemoglobinopathies/Hemoglobinopathies/*diagnosis ; Preimplantation Diagnosis/Preimplantation Diagnosis/Preimplantation Diagnosis/*methods ; Prenatal Diagnosis/Prenatal Diagnosis/Prenatal Diagnosis/*methods

  • Source: International journal of laboratory hematology [Int J Lab Hematol] 2018 May; Vol. 40 Suppl 1, pp. 74-82.Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101300213 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.

  • Authors : Habibzadeh P; Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Iran.; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran.

Subjects: Preimplantation Diagnosis*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Methylmalonyl-CoA Mutase/Methylmalonyl-CoA Mutase/Methylmalonyl-CoA Mutase/*geneticsMethylmalonic acidemia

  • Source: BMC medical genetics [BMC Med Genet] 2020 Feb 03; Vol. 21 (1), pp. 22. Date of Electronic Publication: 2020 Feb 03.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result.

  • Authors : Li D; Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, People's Republic of China.; Wang Y

Subjects: Phenotype* ; Preimplantation Diagnosis* ; Sex Chromosome Aberrations*

  • Source: BMC medical genetics [BMC Med Genet] 2019 Nov 07; Vol. 20 (1), pp. 172. Date of Electronic Publication: 2019 Nov 07.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

  • Authors : Toft CLF; Department of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.

Subjects: Aneuploidy* ; Genetic Carrier Screening* ; Genetic Testing*

  • Source: Acta obstetricia et gynecologica Scandinavica [Acta Obstet Gynecol Scand] 2020 Jun; Vol. 99 (6), pp. 696-706. Date of Electronic Publication: 2020 Mar 13.Publisher: Wiley Country of Publication: United States NLM ID: 0370343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0412

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Editorial & Opinion

Detection of Structural Rearrangements in Embryos.

Subjects: Chromosome Aberrations* ; Preimplantation Diagnosis* ; Translocation, Genetic*

  • Source: The New England journal of medicine [N Engl J Med] 2020 Jun 18; Vol. 382 (25), pp. 2472-2474.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Preimplantation genetic testing practices in the Nordic countries.

Subjects: Preimplantation Diagnosis*; Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Genetic Testing/Genetic Testing/Genetic Testing/*statistics & numerical data

  • Source: Acta obstetricia et gynecologica Scandinavica [Acta Obstet Gynecol Scand] 2020 Jun; Vol. 99 (6), pp. 707-715. Date of Electronic Publication: 2020 Mar 02.Publisher: Wiley Country of Publication: United States NLM ID: 0370343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0412

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Editorial & Opinion

Personalized medicine for the embryo and the fetus - Options in modern genetics influence preconception and prenatal choices.

  • Authors : Ingerslev HJ; Fertility Unit and Center for Preimplantation Genetic Testing, Aalborg University Hospital, Aalborg, Denmark.; Kesmodel US

Subjects: Genetic Carrier Screening* ; Precision Medicine* ; Preimplantation Diagnosis*

  • Source: Acta obstetricia et gynecologica Scandinavica [Acta Obstet Gynecol Scand] 2020 Jun; Vol. 99 (6), pp. 689-691.Publisher: Wiley Country of Publication: United States NLM ID: 0370343 Publication Model: Print Cited Medium: Internet ISSN: 1600-0412

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  • 1-10 of  13,418 results for ""Preimplantation Diagnosis""