Literature DB >> 24870704

Birth of a healthy boy after PGD for X-linked heterotaxy syndrome.

R Bautista-Llácer1, M Pardo-Belenguer, E García-Mengual, C Sánchez-Matamoros, E Raga, J M Calafell, M S Cívico, F Fábregues, X Vendrell.   

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Year:  2014        PMID: 24870704      PMCID: PMC4130928          DOI: 10.1007/s10815-014-0262-8

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN: 1058-0468            Impact factor:   3.412


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  17 in total

1.  Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy.

Authors:  Lisa C A D'Alessandro; Brett Casey; Victoria Mok Siu
Journal:  Congenit Heart Dis       Date:  2011-12-16       Impact factor: 2.007

2.  Quality management system in PGD/PGS: now is the time.

Authors:  Xavier Vendrell; Raquel Carrero; Trinitat Alberola; Rosa Bautista-Llácer; Elena García-Mengual; Reyes Claramunt; Manuel Pérez-Alonso
Journal:  J Assist Reprod Genet       Date:  2009-03-06       Impact factor: 3.412

3.  Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers.

Authors:  X F Cui; H H Li; T M Goradia; K Lange; H H Kazazian; D Galas; N Arnheim
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

4.  X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.

Authors:  A Mégarbané; N Salem; E Stephan; R Ashoush; D Lenoir; V Delague; R Kassab; J Loiselet; P Bouvagnet
Journal:  Eur J Hum Genet       Date:  2000-09       Impact factor: 4.246

5.  Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

Authors:  Stephanie M Ware; Jianlan Peng; Lirong Zhu; Susan Fernbach; Suzanne Colicos; Brett Casey; Jeffrey Towbin; John W Belmont
Journal:  Am J Hum Genet       Date:  2003-12-16       Impact factor: 11.025

6.  Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously.

Authors:  Trinitat M Alberola; Rosa Bautista-Llácer; Esther Fernández; Xavier Vendrell; Manuel Pérez-Alonso
Journal:  J Assist Reprod Genet       Date:  2009-07-21       Impact factor: 3.412

7.  Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification.

Authors:  A H Handyside; E H Kontogianni; K Hardy; R M Winston
Journal:  Nature       Date:  1990-04-19       Impact factor: 49.962

Review 8.  Molecular genetics of heterotaxy syndromes.

Authors:  John W Belmont; Bhagyalaxmi Mohapatra; Jeffrey A Towbin; Stephanie M Ware
Journal:  Curr Opin Cardiol       Date:  2004-05       Impact factor: 2.161

9.  Guidelines for good practice in PGD: programme requirements and laboratory quality assurance.

Authors: 
Journal:  Reprod Biomed Online       Date:  2008-01       Impact factor: 3.828

10.  X-linked situs abnormalities result from mutations in ZIC3.

Authors:  M Gebbia; G B Ferrero; G Pilia; M T Bassi; A Aylsworth; M Penman-Splitt; L M Bird; J S Bamforth; J Burn; D Schlessinger; D L Nelson; B Casey
Journal:  Nat Genet       Date:  1997-11       Impact factor: 38.330

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  1 in total

Review 1.  Cardiac Embryology and Molecular Mechanisms of Congenital Heart Disease: A Primer for Anesthesiologists.

Authors:  Benjamin Kloesel; James A DiNardo; Simon C Body
Journal:  Anesth Analg       Date:  2016-09       Impact factor: 5.108

  1 in total

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