Transient neonatal diabetes mellitus type 1 (TNDM1) is a rare but remarkable form of
diabetes which presents in infancy, resolves in the first months of life, but then frequently …

Here we describe three subjects with mosaic genome‐wide paternal uniparental isodisomy
(GWpUPD) each of whom presented initially with overgrowth, hemihyperplasia (HH), and …

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary
immunodeficiency associated with clinical disease caused by weakly virulent mycobacterial …

Uniparental disomy (UPD) is a topic, which normally is considered to be something
molecular genetics has to take care of exclusively. As UPD is characterized by microsatellite …

Here we describe for the first time double paternal uniparental isodisomy (iUPD) 7 and 15 in
a baby boy with features in the Beckwith–Wiedemann syndrome spectrum (BWSp) …

Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised
disorder. The phenotypic manifestations of multilocus imprinting defects (MLIDs) remain …

One cause of neonatal cholestasis (NC) is paucity of intrahepatic bile ducts which can be
associated with Alagille syndrome or non-syndromic. Alagille syndrome is caused by …

The first trimester fetal foregut generates organs from larynx to ligament of Treitz. The
incidence and clinical impact of many of the 29 congenital malformations arising from the …

En los últimos años, las enfermedades debidas a alteraciones del imprinting genómico han
cobrado importancia capital, no sólo en el ámbito de la biología del cáncer, sino también en …

Although prolactin was originally described as a pituitary hormone that is critical for lactation,
it is now known that prolactin is also expressed by many extrapituitary cells. These include …