Literature DB >> 25988754

Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.

Zornitza Stark1, David Francis1, Lydia Gaffney1, Jacqueline Greenberg1, Louise Hills1, Xin Li2, David E Godler2, Howard R Slater1,2.   

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Year:  2015        PMID： 25988754     DOI： 10.1002/ajmg.a.37163

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

Review 1.  Fragile X syndrome: a review of clinical and molecular diagnoses.

Authors:  Claudia Ciaccio; Laura Fontana; Donatella Milani; Silvia Tabano; Monica Miozzo; Susanna Esposito
Journal:  Ital J Pediatr       Date:  2017-04-19       Impact factor: 2.638

2.  Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction.

Authors:  Yael Prawer; Matthew Hunter; Sara Cronin; Ling Ling; Solange Aliaga Vera; Michael Fahey; Nikki Gelfand; Ralph Oertel; Essra Bartlett; David Francis; David Godler
Journal:  Genes (Basel)       Date:  2018-06-07       Impact factor: 4.096

3.  Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles.

Authors:  Alison Pandelache; Emma K Baker; Solange M Aliaga; Marta Arpone; Robin Forbes; Zornitza Stark; David Francis; David E Godler
Journal:  Genes (Basel)       Date:  2019-04-05       Impact factor: 4.096

4.  Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX.

Authors:  Alison Pandelache; David Francis; Ralph Oertel; Rebecca Dickson; Rani Sachdev; Ling Ling; Dinusha Gamage; David E Godler
Journal:  Genes (Basel)       Date:  2021-05-24       Impact factor: 4.096

5.  Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.

Authors:  Marta Arpone; Emma K Baker; Lesley Bretherton; Minh Bui; Xin Li; Simon Whitaker; Cheryl Dissanayake; Jonathan Cohen; Chriselle Hickerton; Carolyn Rogers; Mike Field; Justine Elliott; Solange M Aliaga; Ling Ling; David Francis; Stephen J C Hearps; Matthew F Hunter; David J Amor; David E Godler
Journal:  Sci Rep       Date:  2018-02-26       Impact factor: 4.379

6.  DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.

Authors:  Claudine M Kraan; Emma K Baker; Marta Arpone; Minh Bui; Ling Ling; Dinusha Gamage; Lesley Bretherton; Carolyn Rogers; Michael J Field; Tiffany L Wotton; David Francis; Matt F Hunter; Jonathan Cohen; David J Amor; David E Godler
Journal:  Int J Mol Sci       Date:  2020-10-19       Impact factor: 5.923
  6 in total

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