(Q34565449)

3 August 2017

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title

The contribution of associated congenital anomalies in understanding Hirschsprung's disease (English)

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3 August 2017

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Moore SW

1

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3 August 2017

4 March 2006

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Pediatric Surgery International

3 August 2017

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3 August 2017

22

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3 August 2017

4

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3 August 2017

305-315

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https://scigraph.springernature.com/pub.10.1007/s00383-006-1655-2

3 August 2017

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cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS00383-006-1655-2

Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00383-006-1655-2

A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00383-006-1655-2

Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00383-006-1655-2

Hirschsprung's disease and congenital deafness. Familial assocation

21 January 2018

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12 December 2020

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

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12 December 2020

Neurocristopathy in mother (ganglioneuroblastoma) and daughter (aganglionosis): incidental or causal?

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12 December 2020

Hirschsprung's disease and mongolism

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12 December 2020

Colonic atresia associated with Hirschsprung's disease

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12 December 2020

Ichthyosis, deafness, and Hirschsprung's disease

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12 December 2020

Hirschsprung-associated congenital anomalies.

1 reference

12 December 2020

Hirschsprung's disease with intestinal malrotation and midgut volvulus: a rare association

1 reference

12 December 2020

[Oculoauriculovertebral syndrome (Goldenhar syndrome) associated with Hirschsprung disease]

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12 December 2020

[Hirschprung's disease in the Negev]

1 reference

12 December 2020

Bilateral retinoblastoma, microphthalmia, and colobomas in the 13q deletion syndrome

1 reference

12 December 2020

A female neonate with Hirschsprung's disease and ichthyosis

1 reference

12 December 2020

Gastrointestinal manifestations of Sipple syndrome in children

1 reference

12 December 2020

Follow up on 200 patients treated for Hirschsprung's disease during a ten-year period

1 reference

12 December 2020

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

1 reference

12 December 2020

Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13

1 reference

12 December 2020

Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis

1 reference

12 December 2020

Multifocal ganglioneuroblastoma coexistent with total colonic aganglionosis

1 reference

12 December 2020

Hirschsprung's disease and malrotation of the mid-gut. An uncommon association

1 reference

12 December 2020

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

1 reference

12 December 2020

Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation

1 reference

12 December 2020

Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome

1 reference

12 December 2020

[Extensive Hirschsprung's disease associated with intestinal malrotation]

1 reference

12 December 2020

Additional anomalies in Hirschsprung's disease: an analysis based on the nationwide survey in Japan

1 reference

12 December 2020

Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease

1 reference

12 December 2020

The influence of trisomy 21 on outcome in children with Hirschsprung's disease

1 reference

12 December 2020

Segregation at three loci explains familial and population risk in Hirschsprung disease

1 reference

12 December 2020

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

1 reference

12 December 2020

Differential maturation of the innate immune response in human fetuses

1 reference

12 December 2020

Imperforate anus, Hirschsprung's disease, and trisomy 21: a rare combination

1 reference

12 December 2020

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

1 reference

12 December 2020

Variable expression of ophthalmological findings in the 13q deletion syndrome

1 reference

12 December 2020

A genetic study of Hirschsprung disease

1 reference

12 December 2020

An Epidemiological Study of Hirschsprung's Disease

1 reference

12 December 2020

Anencephaly-associated aganglionosis

1 reference

12 December 2020

Molecular genetic analysis of familial neuroblastoma

1 reference

12 December 2020

Piebaldness with Hirschsprung's disease

1 reference

12 December 2020

Hirschsprung disease, postaxial polydactyly, and atrial septal defect

1 reference

12 December 2020

Congenital colonic hypoganglionosis in murine trisomy 16--an animal model for Down's syndrome.

1 reference

12 December 2020

Familial Aspects of Hirschsprung's Disease

1 reference

12 December 2020

Aganglionosis: associated anomalies

1 reference

12 December 2020

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

1 reference

12 December 2020

Management of Hirschsprung's disease in children with trisomy 21.

1 reference

12 December 2020

Meningomyelocele and Hirschprung disease: theoretical and clinical significance.

1 reference

12 December 2020

Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): ne

1 reference

12 December 2020

Conditions associated with congenital megacolon.

1 reference

12 December 2020

A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease

1 reference

12 December 2020

Hirschsprung disease: a genetic study

1 reference

12 December 2020

Total intestinal aganglionosis

1 reference

12 December 2020

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

1 reference

12 December 2020

Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease

1 reference

12 December 2020

Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome.

1 reference

12 December 2020

CD18 is required for optimal development and function of CD4+CD25+ T regulatory cells

1 reference

12 December 2020

Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome

1 reference

12 December 2020

Hirschsprung disease in a large birth cohort

1 reference

12 December 2020

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

1 reference

12 December 2020

A Hirschsprung disease locus at 22q11?

1 reference

12 December 2020

Hirschsprung disease, associated syndromes, and genetics: a review

1 reference

12 December 2020

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

1 reference

12 December 2020

Aganglionic megacolon, pheochromocytoma, megaloureter, and neurofibroma; co-occurrence of several neural abnormalities

1 reference

12 December 2020

Signal transduction pathways activated by RET oncoproteins in PC12 pheochromocytoma cells

1 reference

12 December 2020

Leukocyte-cell adhesion: a molecular process fundamental in leukocyte physiology

1 reference

12 December 2020

Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families.

1 reference

12 December 2020

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

1 reference

12 December 2020

Familial Hirschsprung's disease: 20 cases in 12 kindreds.

1 reference

12 December 2020

Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs

1 reference

12 December 2020

Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)

1 reference

12 December 2020

Hirschsprung's disease: the Australian Paediatric Surveillance Unit's experience

1 reference

12 December 2020

Hirschsprung's disease associated with intestinal malrotation in an adult and a review of literature

1 reference

12 December 2020

Frequent loss of heterozygosity for markers on chromosome arm 10q in chondrosarcomas

1 reference

12 December 2020

Primary granule release from human neutrophils is potentiated by soluble fibrinogen through a mechanism depending on multiple intracellular signaling pathways

1 reference

12 December 2020

Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease.

1 reference

12 December 2020

Werner mesomelic dysplasia with Hirschsprung disease

1 reference

12 December 2020

Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy

1 reference

12 December 2020

Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation

1 reference

12 December 2020

Association of Hirschsprung's disease and anorectal malformation

1 reference

12 December 2020

Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.

1 reference

12 December 2020

Nonfixation of an atretic colon predicts Hirschsprung's disease

1 reference

12 December 2020

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

1 reference

12 December 2020

Peripheral T cell lymphoma (immunoblastic type, HTLV-1 negative) associated with aganglionosis of the intestine

1 reference

12 December 2020

Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease

1 reference

12 December 2020

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies

1 reference

12 December 2020

Hirschsprung's disease and asymptomatic malrotation: a rare association

1 reference

12 December 2020

Hirschsprung's disease a survey of the members of the Surgical Section of the American Academy of Pediatrics

1 reference

12 December 2020

Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.

1 reference

12 December 2020

Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease

1 reference

12 December 2020

Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus

1 reference

12 December 2020

Genetic mapping of a novel X-linked recessive colobomatous microphthalmia

1 reference

12 December 2020

GDNF is a chemoattractant for enteric neural cells.

1 reference

12 December 2020

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

1 reference

12 December 2020

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

1 reference

12 December 2020

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

1 reference

12 December 2020

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

1 reference

12 December 2020

Goldberg-Shprintzen syndrome: report of a new family and review of the literature

1 reference

12 December 2020

FAMILIAL ABSENCE OF MYENTERIC PLEXUS (CONGENITAL MEGACOLON)

1 reference

12 December 2020

Hirschsprung's disease: associated abnormalities and demography

1 reference

12 December 2020

Hirschsprung's disease, imperforate anus, and Down's syndrome: a case report

1 reference

12 December 2020

Expression of the SMADIP1 gene during early human development

1 reference

12 December 2020

Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome

1 reference

12 December 2020

[Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease]

1 reference

12 December 2020

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

1 reference

12 December 2020

Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former

1 reference

12 December 2020

The neural crest: basic biology and clinical relationships in the craniofacial and enteric nervous systems

1 reference

12 December 2020

A case of Hirschsprung's disease associated with Laurence-Moon-Bardet-Biedl syndrome

1 reference

12 December 2020

Leukocyte adhesion deficiency mimicking Hirschsprung disease

1 reference

12 December 2020

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

1 reference

12 December 2020

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

1 reference

12 December 2020

Leukocyte adhesion--structure and function of human leukocyte beta2-integrins and their cellular ligands

1 reference

12 December 2020

Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease.

1 reference

12 December 2020

Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome

1 reference

12 December 2020

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome

1 reference

12 December 2020

Hirschsprung's disease: three decades' experience at a single institution

1 reference

12 December 2020

Hirschsprung's disease, associated rare congenital anomalies.

1 reference

12 December 2020

Increased adhesiveness of Down syndrome fetal fibroblasts in vitro

1 reference

12 December 2020

Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

1 reference

12 December 2020

Treatment of neuroblastoma in patients with neurocristopathy syndromes

1 reference

12 December 2020

Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome

1 reference

12 December 2020

Congenital central hypoventilation syndrome and Hirschsprung's disease

1 reference

12 December 2020

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

1 reference

12 December 2020

A genetical study of Hirschsprung's disease; congenital intestinal aganglionosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Mowat-Wilson syndrome

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12 December 2020

Hedgehog signals regulate multiple aspects of gastrointestinal development

1 reference

12 December 2020

Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.

1 reference

12 December 2020

Association study of PHOX2B as a candidate gene for Hirschsprung's disease.

1 reference

12 December 2020

Association of Hirschsprung's disease and Müllerian inhibiting substance deficiency

1 reference

12 December 2020

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

1 reference

12 December 2020

A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).

1 reference

12 December 2020

Ileal atresia with long-segment Hirschsprung's disease in a neonate

1 reference

12 December 2020

Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system.

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

Genomic variation in multigenic traits: Hirschsprung disease.

1 reference

12 December 2020

RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms

1 reference

12 December 2020

Cell-autonomous and cell non-autonomous signaling through endothelin receptor B during melanocyte development

1 reference

12 December 2020

Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.

1 reference

12 December 2020

Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome

1 reference

12 December 2020

Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome?

1 reference

12 December 2020

The association of imperforate anus and Hirschsprung's disease in siblings

1 reference

12 December 2020

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

1 reference

12 December 2020

Familial occurrence of Hirschsprung's disease

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12 December 2020

10.1007/S00383-006-1655-2

Identifiers

DOI

1 reference

PubMed ID

16518596

Dimensions Publication ID

3 August 2017

0 references

1 reference

PubMed ID

16518596