Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

Congenital heart disease (CHD) is the most common congenital anomaly in newborn
babies. Cardiac malformations have been produced in multiple experimental animal …

Biocapital is a major theoretical contribution to science studies and political economy.
Grounding his analysis in a multi-sited ethnography of genomic research and drug …

This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …

Retinal neurodegeneration associated with the dysfunction or death of photoreceptors is a
major cause of incurable vision loss. Tremendous progress has been made over the last two …

Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell
surfaces to perform diverse biological roles, including whole-cell locomotion; movement of …

Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause
of functional intestinal obstruction with an incidence of 1/5000 live births. This …

Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …

Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized
primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning …

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by
multiple clinical features that include pigmentary retinal dystrophy, polydactyly, obesity …