Literature DB >> 21701841

Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics.

Xavier Vendrell1, Rosa Bautista-Llácer, Trinitat Maria Alberola, Elena García-Mengual, Merche Pardo, Antonio Urries, Julián Sánchez.   

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Year:  2011        PMID： 21701841      PMCID： PMC3169691          DOI： 10.1007/s10815-011-9601-1

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


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  21 in total

1.  ESHRE PGD Consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008.

Authors:  J C Harper; E Coonen; M De Rycke; G Harton; C Moutou; T Pehlivan; J Traeger-Synodinos; M C Van Rij; V Goossens
Journal:  Hum Reprod       Date:  2010-09-02       Impact factor: 6.918

2.  ESHRE PGD consortium best practice guidelines for amplification-based PGD.

Authors:  G L Harton; M De Rycke; F Fiorentino; C Moutou; S SenGupta; J Traeger-Synodinos; J C Harper
Journal:  Hum Reprod       Date:  2010-10-21       Impact factor: 6.918

3.  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

4.  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

5.  The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.

Authors:  Peter C van den Akker; Jemima E Mellerio; Anna E Martinez; Lu Liu; Rowdy Meijer; Patricia J C Dopping-Hepenstal; Anthonie J van Essen; Hans Scheffer; Robert M W Hofstra; John A McGrath; Marcel F Jonkman
Journal:  J Med Genet       Date:  2010-11-26       Impact factor: 6.318

6.  Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema.

Authors:  Rosa Bautista-Llácer; Trinitat M Alberola; Xavier Vendrell; Esther Fernández; Manuel Pérez-Alonso
Journal:  Reprod Biomed Online       Date:  2010-06-16       Impact factor: 3.828

7.  Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa.

Authors:  H Fassihi; L Liu; P J Renwick; P R Braude; J A McGrath
Journal:  Br J Dermatol       Date:  2010-02-15       Impact factor: 9.302

8.  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

9.  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

10.  Dystrophic epidermolysis bullosa inversa with COL7A1 mutations and absence of GDA-J/F3 protein.

Authors:  Peter Kahofer; Leena Bruckner-Tuderman; Dieter Metze; Henny Lemmink; Hans Scheffer; Josef Smolle
Journal:  Pediatr Dermatol       Date:  2003 May-Jun       Impact factor: 1.588
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  6 in total

1.  First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.

Authors:  Ayvaz Ozge; Hatırnaz Safak; Hatırnaz Ebru; Unsal Evrim; Sinanoglu Ekin Bilge; Ozer Leyla; Kadı Ali Kemal; Baltacı Volkan
Journal:  J Assist Reprod Genet       Date:  2012-02-22       Impact factor: 3.412

2.  The clinical application of preimplantation genetic diagnosis for X-linked retinitis pigmentosa.

Authors:  Xinghua Huang; Yun Liu; Xiurong Yu; Qiuxiang Huang; Chunli Lin; Jian Zeng; Fenghua Lan; Zhihong Wang
Journal:  J Assist Reprod Genet       Date:  2019-03-19       Impact factor: 3.412

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

Authors:  R Bautista-Llácer; M Pardo-Belenguer; E García-Mengual; C Sánchez-Matamoros; E Raga; J M Calafell; M S Cívico; F Fábregues; X Vendrell
Journal:  J Assist Reprod Genet       Date:  2014-05-29       Impact factor: 3.412

4.  Signatures of Dermal Fibroblasts from RDEB Pediatric Patients.

Authors:  Arkadii K Beilin; Nadezhda A Evtushenko; Daniil K Lukyanov; Nikolay N Murashkin; Eduard T Ambarchian; Alexander A Pushkov; Kirill V Savostyanov; Andrey P Fisenko; Olga S Rogovaya; Andrey V Vasiliev; Ekaterina A Vorotelyak; Nadya G Gurskaya
Journal:  Int J Mol Sci       Date:  2021-02-11       Impact factor: 5.923

5.  Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam.

Authors:  Sang Trieutien; Tam Vu Van; My Tran Ngoc Thao; Son Trinh The; Khoa Tran Van; Tung Nguyen Thanh; Tuan Tran Van; Hanh Nguyen Thi
Journal:  Appl Clin Genet       Date:  2021-12-09

6.  Recommendations on pregnancy, childbirth and aftercare in epidermolysis bullosa: a consensus-based guideline.

Authors:  D T Greenblatt; E Pillay; K Snelson; R Saad; M Torres Pradilla; S Widhiati; A Diem; C Knight; K Thompson; N Azzopardi; M Werkentoft; Z Moore; D Patton; K M Mayre-Chilton; D F Murrell; J E Mellerio
Journal:  Br J Dermatol       Date:  2021-11-25       Impact factor: 11.113
  6 in total

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