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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 3
1983 8
1984 4
1985 5
1986 5
1987 2
1988 9
1989 6
1990 9
1991 7
1992 2
1993 17
1994 29
1995 29
1996 32
1997 35
1998 45
1999 28
2000 27
2001 33
2002 35
2003 38
2004 24
2005 35
2006 31
2007 36
2008 32
2009 26
2010 46
2011 48
2012 52
2013 54
2014 57
2015 63
2016 60
2017 53
2018 50
2019 24
2020 0
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1,016 results
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Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes.
Heuckeroth RO. Nat Rev Gastroenterol Hepatol 2018 - Review. PMID 29300049
Although the anatomy of Hirschsprung disease is simple, many clinical features remain enigmatic, and diagnosis and management remain challenging. ...In this Review, basic science discoveries are linked to clinical manifestations of Hirschsprung disease, including partial penetrance, enterocolitis and genetics. ...
Although the anatomy of Hirschsprung disease is simple, many clinical features remain enigmatic, and diagnosis and management …
Hirschsprung's disease: A bridge for science and surgery.
Tam PK. J Pediatr Surg 2016 - Review. PMID 26611330
BACKGROUND/PURPOSE: Understanding the true nature of the disease provided the basis for appropriate surgery for Hirschsprung's disease some 60 years ago. ...Advances in diagnosis and treatment will depend on the elucidation of the pathogenesis and disease heterogeneity. METHODS: This lecture outlines the author's attempt in the past 30 years to bridge some of the gaps of knowledge in Hirschsprung's disease. ...
BACKGROUND/PURPOSE: Understanding the true nature of the disease provided the basis for appropriate surgery for Hirschsprung's …
Hirschsprung's disease in twins: a systematic review and meta-analysis.
Henderson D, et al. Pediatr Surg Int 2017 - Review. PMID 28601901
AIM OF THE STUDY: Hirschsprung's disease (HSCR) is known to occur in families. The reported overall incidence of familial cases is 7.6%, with a higher incidence of 15-21% in total colonic aganglionosis and 50% in the rare total intestinal aganglionosis. ...METHODS: Electronic databases Pubmed and Medline were screened for relevant articles using the keywords "Hirschsprung's disease", "aganglionosis", "twins", "monozygotic", and "dizygotic". ...
AIM OF THE STUDY: Hirschsprung's disease (HSCR) is known to occur in families. The reported overall incidence of familial case …
Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development.
Tang CS, et al. Gastroenterology 2018. PMID 30217742
BACKGROUND & AIMS: Hirschsprung disease, or congenital aganglionosis, is believed to be oligogenic-that is, caused by multiple genetic factors. ...CONCLUSIONS: In whole-genome sequence analyses of patients with Hirschsprung disease, we identified rare and common variants associated with disease risk. ...
BACKGROUND & AIMS: Hirschsprung disease, or congenital aganglionosis, is believed to be oligogenic-that is, caused by mult …
Total colonic aganglionosis and Hirschsprung's disease: a review.
Moore SW. Pediatr Surg Int 2015 - Review. PMID 25367097
Total colonic aganglionosis is a relatively uncommon form of Hirschsprung's disease (HSCR). It occurs in approximately 2-13 % of HSCR cases and involves the entire colon which is aganglionic but may extend proximally into varying lengths of small bowel. ...Clinically, TCA appears to represent a different spectrum of disease in terms of presentation and difficulties which may be experienced in diagnosis suggesting a different pathophysiology from the more common forms of HSCR. ...
Total colonic aganglionosis is a relatively uncommon form of Hirschsprung's disease (HSCR). It occurs in approximately 2-13 % …
Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease.
Tilghman JM, et al. N Engl J Med 2019. PMID 30970187 Free PMC article.
BACKGROUND: Hirschsprung's disease, or congenital aganglionosis, is a developmental disorder of the enteric nervous system and is the most common cause of intestinal obstruction in neonates and infants. ...METHODS: We genotyped and exome-sequenced samples from 190 patients with Hirschsprung's disease to quantify the genetic burden in patients with this condition. ...
BACKGROUND: Hirschsprung's disease, or congenital aganglionosis, is a developmental disorder of the enteric nervous system and …
[Syndromic Hirschsprung′s disease and its mode of inheritance].
Zhang JR and Zhang ZB. Zhongguo Dang Dai Er Ke Za Zhi 2018 - Review. PMID 29764583 Chinese. Free article.
Hirschsprung′s disease (HSCR) is one of the major causes of chronic incomplete intestinal obstruction in children. HSCR is considered a type of neurocristopathy caused by no colonization of ganglion cells on some parts of the bowel wall due to abnormal termination of the migration of vagal neural cells during embryonic development. This disease can be classified into different types according to the length of the affected intestinal canal. Most HSCR patients present with single deformity, but some HSCR patients are affected by other deformities, which constitutes syndromic HSCR, such as congenital central hypoventilation syndrome, Fryns syndrome, and cartilage-hair hypoplasia syndrome. ...
Hirschsprung′s disease (HSCR) is one of the major causes of chronic incomplete intestinal obstruction in children. H
Advances in understanding the association between Down syndrome and Hirschsprung disease (DS-HSCR).
Moore SW. Pediatr Surg Int 2018 - Review. PMID 30218169
The clinical association between Trisomy 21 (Down syndrome) and aganglionosis (Hirschsprung disease; DS-HSCR) is well-established, being of the order of 5% and remains the most common congenital association with Hirschsprung disease. ...The sum of these effects influences the outcome of surgery in Down syndrome patients with Hirschsprung Disease....
The clinical association between Trisomy 21 (Down syndrome) and aganglionosis (Hirschsprung disease; DS-HSCR) is well-establis …
Hirschsprung disease, associated syndromes and genetics: a review.
Amiel J, et al. J Med Genet 2008 - Review. PMID 17965226
Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. ...The tyrosine kinase receptor RET is the major gene with both rare coding sequence mutations and/or a frequent variant located in an enhancer element predisposing to the disease. ...
Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause of functional intestinal obstruction with
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