Hirschsprung disease, associated syndromes and genetics: a review
J Amiel, E Sproat-Emison, M Garcia-Barcelo… - Journal of medical …, 2008 - jmg.bmj.com
Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause
of functional intestinal obstruction with an incidence of 1/5000 live births. This …
of functional intestinal obstruction with an incidence of 1/5000 live births. This …
The developmental etiology and pathogenesis of Hirschsprung disease
NEB Tjaden, PA Trainor - Translational research, 2013 - Elsevier
The enteric nervous system is the part of the autonomic nervous system that directly controls
the gastrointestinal tract. Derived from a multipotent, migratory cell population called the …
the gastrointestinal tract. Derived from a multipotent, migratory cell population called the …
Genetic analysis of the mammalian transforming growth factor-β superfamily
H Chang, CW Brown, MM Matzuk - Endocrine reviews, 2002 - academic.oup.com
Members of the TGF-β superfamily, which includes TGF-βs, growth differentiation factors,
bone morphogenetic proteins, activins, inhibins, and glial cell line-derived neurotrophic …
bone morphogenetic proteins, activins, inhibins, and glial cell line-derived neurotrophic …
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
N Katsanis, SJ Ansley, JL Badano, ER Eichers… - Science, 2001 - science.org
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by
multiple clinical features that include pigmentary retinal dystrophy, polydactyly, obesity …
multiple clinical features that include pigmentary retinal dystrophy, polydactyly, obesity …
Hirschsprung disease, associated syndromes, and genetics: a review
J Amiel, S Lyonnet - Journal of medical genetics, 2001 - jmg.bmj.com
Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of
functional intestinal obstruction with an incidence of 1/5000 live births. This developmental …
functional intestinal obstruction with an incidence of 1/5000 live births. This developmental …
The science of Hirschsprung disease: what we know and where we are headed
JL Mueller, AM Goldstein - Seminars in pediatric surgery, 2022 - Elsevier
The enteric nervous system (ENS) is a rich network of neurons and glial cells that comprise
the gastrointestinal tract's intrinsic nervous system and are responsible for controlling …
the gastrointestinal tract's intrinsic nervous system and are responsible for controlling …
Building a brain in the gut: development of the enteric nervous system
AM Goldstein, RMW Hofstra, AJ Burns - Clinical genetics, 2013 - Wiley Online Library
The enteric nervous system (ENS), the intrinsic innervation of the gastrointestinal tract, is an
essential component of the gut neuromusculature and controls many aspects of gut function …
essential component of the gut neuromusculature and controls many aspects of gut function …
A safety assessment of tumor necrosis factor antagonists during pregnancy: a review of the Food and Drug Administration database
JD Carter, A Ladhani, LR Ricca, J Valeriano… - The Journal of …, 2009 - jrheum.org
Objective. To present any congenital anomalies with respect to tumor necrosis factor (TNF)
antagonists reported to the US Food and Drug Administration (FDA) to determine if there are …
antagonists reported to the US Food and Drug Administration (FDA) to determine if there are …
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome …
DR Mowat, GD Croaker, DT Cass, BA Kerr… - Journal of medical …, 1998 - jmg.bmj.com
We have identified six children with a distinctive facial phenotype in association with mental
retardation (MR), microcephaly, and short stature, four of whom presented with Hirschsprung …
retardation (MR), microcephaly, and short stature, four of whom presented with Hirschsprung …
[HTML][HTML] Multiple hits during early embryonic development: digenic diseases and holoprosencephaly
JE Ming, M Muenke - The American Journal of Human Genetics, 2002 - cell.com
Tremendous advances have been made over the past two decades in determining the
molecular genetic basis for human inherited diseases. Mutations in an impressive number of …
molecular genetic basis for human inherited diseases. Mutations in an impressive number of …