Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …
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
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
The clinical characteristics included lobulated tongue, pseudo-cleft of lip, pre-and postaxial …