A genetic study of Hirschsprung disease (Q34644543)

3 August 2017

title

A genetic study of Hirschsprung disease (English)

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3 August 2017

J A Badner

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3 August 2017

W K Sieber

series ordinal

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3 August 2017

K L Garver

series ordinal

1 reference

3 August 2017

A Chakravarti

series ordinal

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3 August 2017

language of work or name

English

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publication date

1 March 1990

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American Journal of Human Genetics

3 August 2017

published in

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3 August 2017

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3 August 2017

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3 August 2017

page(s)

568-580

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DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA

3 August 2017

cites work

1 reference

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Complex Segregation Analysis with Pointers

7 July 2018

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Children of those treated surgically for Hirschsprung's disease

7 July 2018

1 reference

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Hirschsprung disease in progeny of affected individuals: a case report and review of the literature.

7 July 2018

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Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2

7 July 2018

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Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations.

7 July 2018

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Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature

7 July 2018

1 reference

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An Epidemiological Study of Hirschsprung's Disease

7 July 2018

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Increased adhesiveness of Down syndrome fetal fibroblasts in vitro

7 July 2018

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Hirschsprung's disease in a family with multiple endocrine neoplasia type 2.

7 July 2018

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Analysis of family resemblance. 3. Complex segregation of quantitative traits

7 July 2018

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Embryogenesis of the enteric ganglia in normal mice and in mice that develop congenital aganglionic megacolon.

7 July 2018

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Malformations and leukemia in children with Down's syndrome.

7 July 2018

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The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families.

7 July 2018

1 reference

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Hirschsprung disease in a large birth cohort

7 July 2018

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Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study

7 July 2018

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Effects of the size of lesions of the cardiac neural crest at various embryonic ages on incidence and type of cardiac defects

7 July 2018

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Inability of neural crest cells to colonize the presumptive aganglionic bowel of ls/ls mutant mice: requirement for a permissive microenvironment

7 July 2018

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Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

7 July 2018

1 reference

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Genetics, chance, and morphogenesis.

7 July 2018

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Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome

7 July 2018

1 reference

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Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22)

7 July 2018

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Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis

7 July 2018

1 reference

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Chromosome maps of man and mouse, III.

7 July 2018

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Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?

7 July 2018

1 reference

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Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration

7 July 2018

1 reference

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Review and hypotheses: somatic mosaicism: observations related to clinical genetics

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683643

Hirschsprung disease: a genetic study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683643

Interstitial deletion of distal 13q associated with Hirschsprung's disease

7 July 2018

1 reference

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Congenital central hypoventilation syndrome and Hirschsprung's disease in half sibs

7 July 2018

1 reference

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Estimated rates of Down syndrome in live births by one year maternal age intervals for mothers aged 20-49 in a New York State study-implications of the risk figures for genetic counseling and cost-benefit analysis of prenatal diagnosis programs

7 July 2018

1 reference

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Hirschsprung's disease in a kindred: A possible clue to the genetics of the disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683643

The association of Waardenburg syndrome and Hirschsprung megacolon

26 October 2018

1 reference

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Association of Megacolon with Two Recessive Spotting Genes in the Mouse

26 October 2018

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12 December 2020

Piebaldness with Hirschsprung's disease

1 reference

12 December 2020

White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome

1 reference

12 December 2020

[Familial megacolon (author's transl)]

1 reference

12 December 2020

Hirschsprung disease: etiologic implications of unsuccessful prenatal diagnosis

1 reference

12 December 2020

Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3)

1 reference

12 December 2020

Tandem duplication of proximal 22q: a cause of cat-eye syndrome

1 reference

12 December 2020

"Partial trisomy 22 and 11" due to a paternal 11;22 translocation associated with Hirschsprung disease

1 reference

12 December 2020

Three-generation transmission of Hirschsprung's disease

1 reference

12 December 2020

Identifiers

PMC publication ID

1683643

1 reference

3 August 2017

1 reference