| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1019707062 |
| P356 | DOI | 10.1007/S00383-006-1655-2 |
| P698 | PubMed publication ID | 16518596 |
| P2093 | author name string | Moore SW | |
| P2860 | cites work | Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease | Q24291067 |
| Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) | Q24311237 | ||
| Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. | Q24531488 | ||
| Mowat-Wilson syndrome | Q24677663 | ||
| A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies | Q28141732 | ||
| Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation | Q28206721 | ||
| ABCD syndrome is caused by a homozygous mutation in the EDNRB gene | Q28206828 | ||
| Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients | Q28210106 | ||
| RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms | Q28213604 | ||
| Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis | Q28242014 | ||
| Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22 | Q28242301 | ||
| Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations | Q28248837 | ||
| A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) | Q28278792 | ||
| Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population | Q28292822 | ||
| Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome | Q28302997 | ||
| Hedgehog signals regulate multiple aspects of gastrointestinal development | Q28511934 | ||
| Goldberg-Shprintzen syndrome: report of a new family and review of the literature | Q32065282 | ||
| Peripheral T cell lymphoma (immunoblastic type, HTLV-1 negative) associated with aganglionosis of the intestine | Q33491647 | ||
| Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy | Q33586640 | ||
| Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22) | Q33592470 | ||
| Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome | Q33592563 | ||
| Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration | Q33677026 | ||
| Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma | Q33909753 | ||
| Expression of the SMADIP1 gene during early human development | Q34144195 | ||
| Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis | Q34156935 | ||
| An Epidemiological Study of Hirschsprung's Disease | Q34251316 | ||
| Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease | Q34336251 | ||
| Hirschsprung’s disease, associated rare congenital anomalies | Q34415620 | ||
| Leukocyte adhesion--structure and function of human leukocyte beta2-integrins and their cellular ligands | Q34426260 | ||
| 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 | Q41922079 | ||
| Deletion of long-range sequences at Sox10 compromises developmental expression in a mouse model of Waardenburg-Shah (WS4) syndrome | Q42674838 | ||
| A Hirschsprung disease locus at 22q11? | Q43076468 | ||
| Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease | Q43218370 | ||
| Differential maturation of the innate immune response in human fetuses | Q43903889 | ||
| Familial Aspects of Hirschsprung's Disease | Q44139675 | ||
| Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease | Q44159321 | ||
| Hirschsprung's disease associated with intestinal malrotation in an adult and a review of literature | Q44278744 | ||
| Hirschsprung's disease: three decades' experience at a single institution | Q44416462 | ||
| Bilateral retinoblastoma, microphthalmia, and colobomas in the 13q deletion syndrome | Q44471481 | ||
| Hirschsprung's disease and asymptomatic malrotation: a rare association | Q44892559 | ||
| Cell-autonomous and cell non-autonomous signaling through endothelin receptor B during melanocyte development | Q44939644 | ||
| Primary granule release from human neutrophils is potentiated by soluble fibrinogen through a mechanism depending on multiple intracellular signaling pathways | Q44960173 | ||
| Variable expression of ophthalmological findings in the 13q deletion syndrome | Q45218941 | ||
| Hirschsprung's disease a survey of the members of the Surgical Section of the American Academy of Pediatrics | Q46973330 | ||
| Hirschsprung's disease in a kindred: A possible clue to the genetics of the disease | Q47354786 | ||
| 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 | Q47390607 | ||
| Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease | Q48056092 | ||
| Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene | Q48077430 | ||
| Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma) | Q48574098 | ||
| Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. | Q50482153 | ||
| Genomic variation in multigenic traits: Hirschsprung disease | Q50794273 | ||
| Hirschsprung-Associated Congenital Anomalies | Q50904046 | ||
| Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. | Q51927092 | ||
| Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement | Q51935006 | ||
| Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome | Q51937801 | ||
| Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21. | Q52087373 | ||
| Congenital colonic hypoganglionosis in murine trisomy 16--an animal model for Down's syndrome | Q52171183 | ||
| The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families | Q53775637 | ||
| Conditions associated with congenital megacolon | Q54031108 | ||
| Meningomyelocele and Hirschprung disease: theoretical and clinical significance | Q54309063 | ||
| Mutation analysis of the RET gene in total intestinal aganglionosis by wave DNA fragment analysis system. | Q54784715 | ||
| Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome. | Q55033506 | ||
| Werner mesomelic dysplasia with Hirschsprung disease | Q57199437 | ||
| 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 | Q59205566 | ||
| Familial Hirschsprung's disease: 20 cases in 12 kindreds. | Q64948550 | ||
| Hirschsprung's disease and congenital deafness. Familial assocation | Q67685839 | ||
| Association of Hirschsprung's disease and Müllerian inhibiting substance deficiency | Q67970835 | ||
| A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease | Q68043887 | ||
| Hirschsprung's disease: associated abnormalities and demography | Q68080418 | ||
| Hirschsprung's disease and mongolism | Q68384470 | ||
| A genetical study of Hirschsprung's disease; congenital intestinal aganglionosis | Q68385756 | ||
| Aganglionosis: associated anomalies | Q68440010 | ||
| [Oculoauriculovertebral syndrome (Goldenhar syndrome) associated with Hirschsprung disease] | Q69431114 | ||
| Hirschsprung's disease with intestinal malrotation and midgut volvulus: a rare association | Q69651310 | ||
| Gastrointestinal manifestations of Sipple syndrome in children | Q69906613 | ||
| [Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease] | Q70122511 | ||
| Association of Hirschsprung's disease and anorectal malformation | Q70144331 | ||
| Hirschsprung's disease and malrotation of the mid-gut. An uncommon association | Q70447870 | ||
| Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3) | Q70673831 | ||
| White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome | Q70878663 | ||
| Ileal atresia with long-segment Hirschsprung's disease in a neonate | Q71277560 | ||
| Piebaldness with Hirschsprung's disease | Q71349717 | ||
| Hirschsprung's disease, imperforate anus, and Down's syndrome: a case report | Q71474006 | ||
| Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease | Q71561424 | ||
| Frequent loss of heterozygosity for markers on chromosome arm 10q in chondrosarcomas | Q71561882 | ||
| Colonic atresia associated with Hirschsprung's disease | Q71690487 | ||
| Hirschsprung disease, postaxial polydactyly, and atrial septal defect | Q71952026 | ||
| Familial occurrence of Hirschsprung's disease | Q72163346 | ||
| The influence of trisomy 21 on outcome in children with Hirschsprung's disease | Q72167643 | ||
| [Hirschprung's disease in the Negev] | Q72895279 | ||
| Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease | Q73109233 | ||
| Imperforate anus, Hirschsprung's disease, and trisomy 21: a rare combination | Q73336872 | ||
| Nonfixation of an atretic colon predicts Hirschsprung's disease | Q73377930 | ||
| Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus | Q73774595 | ||
| Genetic mapping of a novel X-linked recessive colobomatous microphthalmia | Q73969586 | ||
| Molecular genetic analysis of familial neuroblastoma | Q74360482 | ||
| Aganglionic megacolon, pheochromocytoma, megaloureter, and neurofibroma; co-occurrence of several neural abnormalities | Q74545866 | ||
| Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13 | Q74587696 | ||
| Follow up on 200 patients treated for Hirschsprung's disease during a ten-year period | Q74633641 | ||
| Anencephaly-associated aganglionosis | Q77764792 | ||
| FAMILIAL ABSENCE OF MYENTERIC PLEXUS (CONGENITAL MEGACOLON) | Q78533001 | ||
| [Extensive Hirschsprung's disease associated with intestinal malrotation] | Q80843532 | ||
| CD18 is required for optimal development and function of CD4+CD25+ T regulatory cells | Q81598284 | ||
| A female neonate with Hirschsprung's disease and ichthyosis | Q81773419 | ||
| The association of imperforate anus and Hirschsprung's disease in siblings | Q93577508 | ||
| Hirschsprung disease, associated syndromes, and genetics: a review | Q34428513 | ||
| A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs | Q34514959 | ||
| Hirschsprung's disease: the Australian Paediatric Surveillance Unit's experience | Q34532643 | ||
| Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome | Q34540887 | ||
| Management of Hirschsprung's disease in children with trisomy 21. | Q34627427 | ||
| A genetic study of Hirschsprung disease | Q34644543 | ||
| Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome | Q34663962 | ||
| Ichthyosis, deafness, and Hirschsprung's disease | Q34676745 | ||
| Hirschsprung disease: a genetic study | Q34683754 | ||
| Additional anomalies in Hirschsprung's disease: an analysis based on the nationwide survey in Japan | Q34683881 | ||
| Multifocal ganglioneuroblastoma coexistent with total colonic aganglionosis | Q34687539 | ||
| Hirschsprung disease in a large birth cohort | Q34695699 | ||
| Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome | Q34713837 | ||
| Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families. | Q34729170 | ||
| Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease | Q34729678 | ||
| 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 | Q34737799 | ||
| Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM | Q34742761 | ||
| Treatment of neuroblastoma in patients with neurocristopathy syndromes | Q35061626 | ||
| Congenital central hypoventilation syndrome and Hirschsprung's disease | Q35259161 | ||
| A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). | Q35432796 | ||
| Association study of PHOX2B as a candidate gene for Hirschsprung's disease. | Q35595483 | ||
| The neural crest: basic biology and clinical relationships in the craniofacial and enteric nervous systems | Q35843320 | ||
| In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome | Q36213111 | ||
| Increased adhesiveness of Down syndrome fetal fibroblasts in vitro | Q36257483 | ||
| Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2 | Q36360593 | ||
| Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs | Q36940673 | ||
| A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. | Q37149716 | ||
| Leukocyte-cell adhesion: a molecular process fundamental in leukocyte physiology | Q37592816 | ||
| A case of Hirschsprung's disease associated with Laurence-Moon-Bardet-Biedl syndrome | Q38536439 | ||
| Total intestinal aganglionosis | Q39861545 | ||
| Leukocyte adhesion deficiency mimicking Hirschsprung disease | Q40368135 | ||
| Neurocristopathy in mother (ganglioneuroblastoma) and daughter (aganglionosis): incidental or causal? | Q40563107 | ||
| 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 | Q40614253 | ||
| Segregation at three loci explains familial and population risk in Hirschsprung disease | Q40738218 | ||
| Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome? | Q40768494 | ||
| GDNF is a chemoattractant for enteric neural cells. | Q40833233 | ||
| Hirschsprung's Disease: Genetic and Functional Associations of Down's and Waardenburg Syndromes | Q41012929 | ||
| Signal Transduction Pathways Activated by RET Oncoproteins in PC12 Pheochromocytoma Cells | Q41056272 | ||
| Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease. | Q41921905 | ||
| P433 | issue | 4 | |
| P921 | main subject | congenital disorder | Q727096 |
| P304 | page(s) | 305-315 | |
| P577 | publication date | 2006-03-04 | |
| P13046 | publication type of scholarly work | review article | Q7318358 |
| P1433 | published in | Pediatric Surgery International | Q15758076 |
| P1476 | title | The contribution of associated congenital anomalies in understanding Hirschsprung's disease | |
| P478 | volume | 22 |
| Q35213311 | A novel corrective pullthrough surgery in a mouse model of Hirschsprung's disease |
| Q34461709 | A prospective observational study of associated anomalies in Hirschsprung's disease |
| Q84968990 | Aberrant high expression of NRG1 gene in Hirschsprung disease |
| Q38133941 | Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician |
| Q83465438 | Association of X‐linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene |
| Q38045752 | Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease |
| Q34326028 | Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11). |
| Q38224115 | Congenital anomalies of the kidney and urinary tract (CAKUT) associated with Hirschsprung's disease: a systematic review |
| Q26866340 | Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model |
| Q22252784 | Down syndrome and the enteric nervous system |
| Q38095714 | Extraskeletal osteosarcoma of the orbit: A clinicopathologic case report and review of literature |
| Q39329751 | Genetic Background of Hirschsprung Disease: A Bridge Between Basic Science and Clinical Application. |
| Q34986444 | Genetic basis of Hirschsprung's disease. |
| Q90090941 | Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease |
| Q90390916 | Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort |
| Q38035208 | Hearing impairments caused by genetic and environmental factors |
| Q34198135 | Hirschsprung's Disease and Associated Congenital Heart Defects: A Prospective Observational Study from a Single Institution. |
| Q37816278 | Hirschsprung's disease and the brain |
| Q37260571 | Hirschsprung's disease associated with alopecia universalis congenita: a case report |
| Q46315684 | Hirschsprung's disease prevalence in Europe: a register based study |
| Q45880491 | Hirschsprung’s disease in the neurologically challenged child |
| Q39167180 | Involvement of down-regulated E2F3 in Hirschsprung's disease |
| Q37958414 | Motility Problems in the Intellectually Challenged Child, Adolescent, and Young Adult |
| Q41931367 | Mowat-Wilson syndrome: the first report of an association with central nervous system tumors. |
| Q33699316 | Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region |
| Q30514572 | Novel mechanisms of early upper and lower urinary tract patterning regulated by RetY1015 docking tyrosine in mice |
| Q33685678 | Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice |
| Q38225417 | Prevalence of Hirschsprung's disease in premature infants: a systematic review |
| Q41918488 | Rare association of Hirschsprung's disease and Joubert syndrome |
| Q39412574 | Retinoblastoma and Neuroblastoma Predisposition and Surveillance |
| Q38544234 | Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review |
| Q39694457 | The many faces of RET dysfunction in kidney |
| Q38264762 | Total colonic aganglionosis and Hirschsprung's disease: a review |
| Q37538573 | Total colonic aganglionosis and Hirschsprung's disease: shades of the same or different? |
| Q99571344 | Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report |
| Q38044129 | Total colonic aganglionosis in Hirschsprung disease |
| Q37714666 | Treatment and Patient Reported Outcome in Children with Hirschsprung Disease and Concomitant Congenital Heart Disease. |
| Q30477530 | c-Ret-mediated hearing loss in mice with Hirschsprung disease |
| Q37980452 | c-Ret-mediated hearing losses |
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