Hirschsprung
Mostrando 37-48 de 88 artigos, teses e dissertações.
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37. Interstitial deletion of distal 13q associated with Hirschsprung's disease.
Three cases of interstitial deletion of chromosome 13 involving the common segment 13q22.1----q32.1 are reported. In addition to the recognised clinical features of this deletion, two had Hirschsprung's disease.
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38. Experience with a cholinesterase histochemical technique for rectal suction biopsies in the diagnosis of Hirschsprung's disease
Cryostat sections from 160 rectal suction biopsies were stained for cholinesterases by the method of Karnovsky and Roots (1964) in an attempt to facilitate the diagnosis of Hirschsprung's disease.
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39. Use of circumferential tangential cryostat sections of the intestine in the diagnosis of Hirschsprung's disease
Technical and staining methods are described for making tangential sections using a specially prepared chuck surface in a cryostat. The method gives a rapid definitive diagnosis of Hirschsprung's disease in children.
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40. Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.
An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is suggested that this might represent a new autosomal recessive syndrome.
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41. Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?
Three children are reported, a male and female sib pair of Sikh origin and a male child who was the offspring of first cousin Pakistani Muslims, with Hirschsprung's disease, hypoplastic nails, and similar minor dysmorphic features. We consider that they represent a distinct autosomal recessive syndrome.
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42. The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease
The RET (rearranged during transfection) proto-oncogene encodes a tyrosine kinase receptor involved in both multiple endocrine neoplasia type 2 (MEN 2), an inherited cancer syndrome, and Hirschsprung disease (HSCR), a developmental defect of enteric neurons. We report here that the expression of RET receptor induces apoptosis. This pro-apoptotic effect of RE
Oxford University Press.
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43. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease
The spontaneous mouse mutant Dominant megacolon (Dom) is a valuable model for the study of human congenital megacolon (Hirschsprung disease). Here we report that the defect in the Dom mouse is caused by mutation of the gene encoding the Sry-related transcription factor Sox10. This assignment is based on (i) colocalization of the Sox10 gene with the Dom mutat
The National Academy of Sciences.
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44. A study of the vesical ganglia in children and the relationship to the megaureter megacystis syndrome and Hirschsprung's disease
A method for the assay of vesical ganglion cells is described and the number and distribution of the neurones in three normal bladders was studied. Vesical ganglion counts were done in cases of the megaureter-megacystis syndrome, megaureter, bladder neck obstruction, megacystis associated with absent abdominal muscles, Hirschsprung's disease, and lumbar myel
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45. Umbilical cord ulceration in association with intestinal atresia in a child with deletion 13q and Hirschsprung's disease.
The case is reported of a baby boy with an interstitial deletion of the long arm of chromosome 13 who, in addition to the described associations of Hirschsprung's disease and intestinal atresia, had umbilical cord ulceration resulting in massive intrapartum haemorrhage. This case provides support for the existence of a previously reported association between
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46. Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?
We report a patient with total colonic aganglionosis in association with a deletion of part of the long arm of chromosome 10: (del(10)(q11.2q21.2)). This deletion includes the ret proto-oncogene, which has recently been implicated in multiple endocrine neoplasia type 2A (MEN 2A). The possible links between Hirschsprung's disease and the neurocristopathies an
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47. Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.
We describe three children with Hirschsprung's disease and microcephaly, two of whom also have an iris coloboma. Two of the children, one with a coloboma and one without, are from the same consanguineous pedigree. The third case is unrelated and was identified by the matching program of the London Dysmorphology Database. This is the first report of this comb
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48. Mice Lacking Zfhx1b, the Gene That Codes for Smad-Interacting Protein-1, Reveal a Role for Multiple Neural Crest Cell Defects in the Etiology of Hirschsprung Disease–Mental Retardation Syndrome
Recently, mutations in ZFHX1B, the gene that encodes Smad-interacting protein-1 (SIP1), were found to be implicated in the etiology of a dominant form of Hirschsprung disease–mental retardation syndrome in humans. To clarify the molecular mechanisms underlying the clinical features of SIP1 deficiency, we generated mice that bear a mutation comparable to th
The American Society of Human Genetics.