An accurate diagnosis is an integral component of patient care for children with rare genetic
disease. Recent advances in sequencing, in particular whole‐exome sequencing ( WES ), …

Four separate initiation sites for neural tube (NT) fusion have been demonstrated recently in
mice and other experimental animals. We evaluated the question of whether the mult‐site …

Objective To develop a Canadian consensus document on maternal screening for fetal
aneuploidy (eg, Down syndrome and trisomy 18) in singleton pregnancies. Options Pregnancy …

Structural variation (copy number variation [CNV] including deletion and duplication,
translocation, inversion) of chromosomes has been identified in some individuals with autism …

Background: Corticosteroids are first-line drugs for the treatment of a variety of conditions in
women of childbearing age. Information regarding human pregnancy outcome with …

Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical
and immunological features of which parallel those of congenital viral infection. Here we …

… D–F, Haematoxylin and eosin staining of paraffin-embedded brain sections. D, Fetal
brain at 21 wk gestation, showing normal lamination of the cortex: meninges (M), lamina …

Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any
of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on …

In April, 2005, a full-term healthy male infant, delivered vaginally, showed intermittent periods
of difficulty in breastfeeding and lethargy starting on day 7. During a well-baby paediatric …

The preliminary results of an international collaborative study examining premature
menopause in fragile X carriers are presented. A total of 760 women from fragile X families was …