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Academic Journal

Challenges of Preimplantation Genetic Counselling in the Context of Cystic Fibrosis and Other CFTR-Related Disorders: A Monocentric Experience in a Cohort of 92 Couples.

  • Authors : Sorrentino U; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.; Menegazzo M

Subjects: Cystic Fibrosis*/Cystic Fibrosis*/Cystic Fibrosis*/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator*/Cystic Fibrosis Transmembrane Conductance Regulator*/Cystic Fibrosis Transmembrane Conductance Regulator*/genetics ; Genetic Counseling*

  • Source: Genes [Genes (Basel)] 2024 Jul 18; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 18.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

The SEeMORE strategy: single-tube electrophoresis analysis-based genotyping to detect monogenic diseases rapidly and effectively from conception until birth.

Subjects: Multiplex Polymerase Chain Reaction* ; Preimplantation Diagnosis* ; Prenatal Diagnosis*

  • Source: Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2017 Nov 27; Vol. 56 (1), pp. 40-50.Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 9806306 Publication Model: Print Cited Medium: Internet ISSN: 1437-4331

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Academic Journal

[Twin birth after preimplantation diagnosis for cystic fibrosis].

  • Authors : Moutou C; Service de biologie de la reproduction, CHU de Strasbourg, SIHCUS-CMCO, 19, rue Louis-Pasteur, 67300 Schiltigheim, France.; Ohl J

Subjects: Preimplantation Diagnosis* ; Twins*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*diagnosis

  • Source: Gynecologie, obstetrique & fertilite [Gynecol Obstet Fertil] 2001 Oct; Vol. 29 (10), pp. 668-72.Publisher: Elsevier Country of Publication: France NLM ID: 100936305 Publication Model: Print Cited Medium: Print ISSN: 1297-9589 (Print)

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Academic Journal

The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

  • Authors : Girardet A; Laboratoire de Génétique Moléculaire, CHU Arnaud de Villeneuve, Montpellier, France.; Faculté de Médecine, Université Montpellier I, Montpellier, France.

Subjects: Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Preimplantation Diagnosis/Preimplantation Diagnosis/Preimplantation Diagnosis/*methods

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Apr; Vol. 24 (4), pp. 469-78. Date of Electronic Publication: 2015 May 27.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.

  • Authors : Chamayou S; Unità di Medicina della Riproduzione - Centro HERA, via Barriera del Bosco n. 51/53, Sant'Agata Li Battiati, 95030, Catania, Italy. .; Sicali M

Subjects: Aneuploidy*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*diagnosis ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2020 Jan; Vol. 37 (1), pp. 213-222. Date of Electronic Publication: 2019 Dec 11.Publisher: Springer Country of Publication: Netherlands NLM ID: 9206495 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Cystic fibrosis: preimplantation diagnosis, prenatal diagnosis and medical ethics, a successful combination.

  • Authors : Briard ML; Service de Génétique Médicale, Hôpital Necker-Enfants Malades, Paris, France.; Mattei JF

Subjects: Ethics, Medical* ; Preimplantation Diagnosis*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*diagnosis

  • Source: Pediatric pulmonology. Supplement [Pediatr Pulmonol Suppl] 1997; Vol. 16, pp. 65.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9014095 Publication Model: Print Cited Medium: Print ISSN: 1054-187X (Print)

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Academic Journal

Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience.

  • Authors : Girardet A; Laboratoire de Génétique Moléculaire, Université MONTPELLIER 1, Inserm U827, CHRU Montpellier, Institut Universitaire de Recherche Clinique (IURC), Montpellier cedex 5, France.; Ishmukhametova A

Subjects: Preimplantation Diagnosis*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*diagnosis ; Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/Cystic Fibrosis Transmembrane Conductance Regulator/*genetics

  • Source: Clinical genetics [Clin Genet] 2015 Feb; Vol. 87 (2), pp. 124-32. Date of Electronic Publication: 2014 May 20.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Towards preimplantation diagnosis of cystic fibrosis using microarrays.

  • Authors : Salvado CS; Monash Institute of Reproduction and Development, Monash University, 27-31 Wright Street, Clayton 3168, Australia. ; Trounson AO

Subjects: Oligonucleotide Array Sequence Analysis*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*diagnosis ; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics

  • Source: Reproductive biomedicine online [Reprod Biomed Online] 2004 Jan; Vol. 8 (1), pp. 107-14.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101122473 Publication Model: Print Cited Medium: Print ISSN: 1472-6483 (Print)

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Academic Journal

The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis.

  • Authors : Deans Z; Department of Laboratory Medicine, UK NEQAS for Molecular Genetics, UK NEQAS Edinburgh, The Royal Infirmary of Edinburgh, Edinburgh, UK. ; Fiorentino F

Subjects: Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*diagnosis ; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics ; Preimplantation Diagnosis/Preimplantation Diagnosis/Preimplantation Diagnosis/*methods

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Aug; Vol. 21 (8), pp. 800-6. Date of Electronic Publication: 2012 Nov 14.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

PGD for all cystic fibrosis carrier couples: novel strategy for preventive medicine and cost analysis.

  • Authors : Tur-Kaspa I; Institute for Human Reproduction (IHR), 2825 N Halsted St., Chicago, IL 60657, USA. ; Aljadeff G

Subjects: Costs and Cost Analysis* ; Genetic Carrier Screening* ; Preimplantation Diagnosis*

  • Source: Reproductive biomedicine online [Reprod Biomed Online] 2010 Aug; Vol. 21 (2), pp. 186-95. Date of Electronic Publication: 2010 Jun 04.Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101122473 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  985 results for ""Preimplantation Diagnosis""