Výsledky vyhledávání - "Louise Christie"

Akademický článek

Are We Ready for Fragile X Newborn Screening Testing?—Lessons Learnt from a Feasibility Study

Autor: Tiffany Wotton, Veronica Wiley, Bruce Bennetts, Louise Christie, Bridget Wilcken, Gemma Jenkins, Carolyn Rogers, Jackie Boyle, Michael Field

Publikováno v: International Journal of Neonatal Screening, Vol 4, Iss 1, p 9 (2018)

Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia. This paper aims to assess the feasibility and reliability of population screening fo

Externí odkaz: https://doaj.org/article/63d3a0019aca4329a6125469f294ebf6

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Emotions in our lives: the evaluation of a user-centered training course »living e-Motions« in the context of recovery of people with mental health challenges

Autor: Karin Bakračevič, Saša Zorjan, Sara Tement, Louise Christie, Bojan Musil

Publikováno v: Mental Health Review Journal. 27:137-145

Purpose This paper aims to evaluate the feasibility and effectiveness of a training course »Living e-Motions« for people living with mental health challenges in the context of their recovery. The course was developed in the joint project of partner

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0307d913b56e7f3307af3432a12c034d
https://doi.org/10.1108/mhrj-03-2021-0021

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A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

Autor: Anna Hackett, Jozef Gecz, Alina Ilie, Marie Shaw, Wujood Khayat, Tracy Dudding-Byth, Michael Field, Louise Christie, Brian Kirmse, John Orlowski, Mark A. Corbett, Jane Juusola, Vera M. Kalscheuer, Kathryn Friend

Publikováno v: Human Molecular Genetics

We report two unrelated families with multigenerational nonsyndromic intellectual disability segregating with a recurrent de novo missense variant (c.1543C>T:p.Leu515Phe) in the alkali cation/proton exchanger gene SLC9A7 (also commonly referred to as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57c7be528898d83270191673af76aadc
https://hdl.handle.net/21.11116/0000-0003-5559-A21.11116/0000-0002-5F72-4

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Akademický článek

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A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

Publikováno v: Journal of Medical Genetics. 52:269-274

Background Trichothiodystrophy (TTD) is a group of rare autosomal recessive disorders that variably affect a wide range of organs derived from the neuroectoderm. The key diagnostic feature is sparse, brittle, sulfur deficient hair that has a ‘tiger

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cc1a0290686a1a017cf7e5df95b6bfa
https://doi.org/10.1136/jmedgenet-2014-102418

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FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts

Autor: David J. Amor, Claudine Kraan, Bruce Bennetts, Sylvia A Metcalfe, Ralph Oertel, Tiffany Wotton, Alison D Archibald, David E. Godler, Damien L. Bruno, Michael Field, Melanie J Smith, Louise Christie, Quang M. Bui, David Francis, Desirée du Sart

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 20(12)

Developmental delay phenotypes have been associated with FMR1 premutation (PM: 55–200 CGG repeats) and “gray zone” (GZ: 45–54 CGG repeats) alleles. However, these associations have not been confirmed by larger studies to be useful in pediatri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ec920a270f7cec6f26717ab60521412
https://pubmed.ncbi.nlm.nih.gov/29595813

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