Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

M Ansari, G Poke, Q Ferry, K Williamson… - Journal of medical …, 2014 - jmg.bmj.com
Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

CT Gordon, S Xue, G Yigit, H Filali, K Chen, N Rosin… - Nature …, 2017 - nature.com
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition
characterized by complete absence of the nose with or without ocular defects. We report …

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

MJ Parker, AE Fryer, DJ Shears… - American Journal of …, 2015 - Wiley Online Library
De novo mutations (DNM) in SYNGAP1, encoding Ras/Rap GTPase‐activating protein
SynGAP, have been reported in individuals with nonsyndromic intellectual disability (ID). We …

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

D Hunt, RJ Leventer, C Simons, R Taft… - Journal of medical …, 2014 - jmg.bmj.com
Background De novo mutations are emerging as an important cause of neurocognitive
impairment, and whole exome sequencing of case-parent trios is a powerful way of …

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

G Beunders, J Van De Kamp, P Vasudevan… - Journal of Medical …, 2016 - jmg.bmj.com
Background AUTS2 syndrome is an 'intellectual disability (ID) syndrome'caused by genomic
rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. So far, 50 …

Ullrich‐Turner syndrome: Seven pregnancies in an apparent 45, X woman

AC Magee, NC Nevin, MJ Armstrong… - American journal of …, 1998 - Wiley Online Library
A 37‐year‐old woman was referred for genetic counseling after termination of her probable
seventh pregnancy. Ultrasound examination at 13 weeks of gestation had shown a fetus …

Segregation distortion in myotonic dystrophy.

AC Magee, AE Hughes - Journal of medical genetics, 1998 - jmg.bmj.com
Myotonic dystrophy (DM) is an autosomal dominant disease which, in the typical pedigree,
shows a three generation anticipation cascade. This results in infertility and congenital …

Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome

CM Thornton, AC Magee, PS Thomas… - Pediatric …, 1994 - Taylor & Francis
The acronym DOOR was first used by Cantwell [1] in 1975 to describe a syndrome
comprising sensorineural deafness, osteodystrophy, onychodystrophy, and mental …

[CITATION][C] Orofaciodigital syndrome type IV: report of a patient

NC Nevin, AC Magee, V Mudenda… - American journal of …, 1992 - Wiley Online Library
We described a patient with the orofaciodigital syndrome type IV [Nevin and Thomas, 19893.
The clinical characteristics included lobulated tongue, pseudo-cleft of lip, pre-and postaxial …