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Author/Creator Mighell, Alan J.

1. A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing. Issue 6 (4th October 2015)

Authors:
Poulter, James A.; Smith, Claire E. L.; Murrillo, Gina; Silva, Sandra; Feather, Sally; Howell, Marianella; Crinnion, Laura; Bonthron, David T.; Carr, Ian M.; Watson, Christopher M.; Inglehearn, Chris F.; Mighell, Alan J.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 3:Issue 6(2015:Nov.)
Page Start:
543
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. New missense variants in RELT causing hypomineralised amelogenesis imperfecta. Issue 5 (21st February 2020)

Authors:
Nikolopoulos, Georgios; Smith, Claire E.L.; Brookes, Steven J.; El‐Asrag, Mohammed E.; Brown, Catriona J.; Patel, Anesha; Murillo, Gina; O'Connell, Mary J.; Inglehearn, Chris F.; Mighell, Alan J.
Journal:
Clinical genetics
Issue:
Volume 97:Issue 5(2020)
Page Start:
688
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome. (9th September 2018)

Authors:
Whitehouse, Laura L. E.; Smith, Claire E. L.; Poulter, James A.; Brown, Catriona J.; Patel, Anesha; Lamb, Teresa; Brown, Lucy R.; O'Sullivan, Elizabeth A.; Mitchell, Rowena E.; Berry, Ian R.; Charlton, Ruth; Inglehearn, Chris F.; Mighell, Alan J.
Journal:
Oral diseases
Issue:
Volume 25:Number 1(2019)
Page Start:
182
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20. Issue 5 (6th March 2021)

Authors:
Nikolopoulos, Georgios; Smith, Claire E. L.; Poulter, James A.; Murillo, Gina; Silva, Sandra; Lamb, Teresa; Berry, Ian R.; Brown, Catriona J.; Day, Peter F.; Soldani, Francesca; Al‐Bahlani, Suhaila; Harris, Sarah A.; O'Connell, Mary J.; Inglehearn, Chris F.; Mighell, Alan J.
Journal:
Human mutation
Issue:
Volume 42:Issue 5(2021)
Page Start:
567
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗