Hirschsprung disease, associated syndromes and genetics: a review
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A Chakravarti | G Burzynski | Erasmus Mc | P. Tam | A. Chakravarti | C. Kashuk | A. Munnich | X. Miao | S. Borrego | G. Antiñolo | R. Hofstra | K. Wong | S. Lyonnet | I. Ceccherini | J. Amiel | K. West | L. Pontual | M. Clément-Ziza | L. De Pontual | M. Garcia-Barcelo | A. Pelet | A Munnich | F. Lantieri | R M W Hofstra | S Lyonnet | J Amiel | P. Griseri | A. Brooks | F Lantieri | I Ceccherini | X Miao | C Kashuk | M Garcia-Barcelo | E Sproat-Emison | S Borrego | A Pelet | S Arnold | P Griseri | A S Brooks | G Antinolo | L de Pontual | M Clement-Ziza | K West | K K-Y Wong | P K-H Tam | R Fernandez | A. Munnich | R. Fernández | K. K. Wong | P. Tam | S. Arnold | G. Burzynski | S. Arnold | E. Sproat-Emison | Kristen West | Raquel M. Fernández | Eileen Sproat-Emison | Merce Garcia-Barceo | Guillermo Antinol | Kenneth Kak-Yuen Wong | Raquel M. Fernández | E. Sproat-Emison | X. Miao | L. de Pontual | K. K. Wong | A. S. Brooks | K. K. Wong | K K-Y Wong | K K-Y Wong | Jeanne Amiel | J. Amiel
[1] P. Tam,et al. Role of RET and ko=PHOX2B gene polymorphisms in risk of Hirschsprung’s disease in Chinese population , 2007, Gut.
[2] M. Borrello,et al. Loss of function effect of RET mutations causing Hirschsprung disease , 1995, Nature Genetics.
[3] Jonas Frisén,et al. Renal agenesis and the absence of enteric neurons in mice lacking GDNF , 1996, Nature.
[4] G. Dressler,et al. Regulation of c-Ret in the developing kidney is responsive to Pax2 gene dosage. , 2006, Human molecular genetics.
[5] I. Lurie,et al. Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature. , 1994, Genetic counseling.
[6] E. Brett,et al. Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. , 1988, Journal of medical genetics.
[7] Juliane Hoyer,et al. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). , 2007, American journal of human genetics.
[8] N. Yanchar,et al. Long-term outcome after Hirschsprung's disease: patients' perspectives. , 1999, Journal of pediatric surgery.
[9] David E Fisher,et al. Microphthalamia-associated transcription factor: a critical regulator of pigment cell development and survival , 2003, Oncogene.
[10] S. Borrego,et al. Specific polymorphisms in the RETproto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression , 1999, Journal of medical genetics.
[11] Vittorio,et al. Molecular heterogeneity of RET loss of function in Hirschsprung's disease. , 1996, The EMBO journal.
[12] Giovanni Romeo,et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease , 1998, Nature Genetics.
[13] Misha Angrist,et al. Segregation at three loci explains familial and population risk in Hirschsprung disease , 2002, Nature Genetics.
[14] J. Osinga,et al. Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations? , 2002, Journal of medical genetics.
[15] J. Louis,et al. GDNF–Induced Activation of the Ret Protein Tyrosine Kinase Is Mediated by GDNFR-α, a Novel Receptor for GDNF , 1996, Cell.
[16] D. Gozal. Congenital central hypoventilation syndrome: An update , 1998, Pediatric pulmonology.
[17] A. Munnich,et al. Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease , 2007, Human mutation.
[18] A. Mahakrishnan,et al. Piebaldness with Hirschsprung's disease. , 1980, Archives of dermatology.
[19] K. Ikeda,et al. Additional Anomalies in Hirschsprung's Disease: An Analysis Based on the Nationwide Survey in Japan , 1986, Zeitschrift fur Kinderchirurgie : organ der Deutschen, der Schweizerischen und der Osterreichischen Gesellschaft fur Kinderchirurgie = Surgery in infancy and childhood.
[20] A. Bottani,et al. A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus , 1991, Human Genetics.
[21] L. Nelles,et al. Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome. , 2007, Human molecular genetics.
[22] P. Tam,et al. 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. , 2004, Clinical chemistry.
[23] P. Vreken,et al. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. , 1998, American journal of human genetics.
[24] O. Swenson. Early history of the therapy of Hirschsprung's disease: facts and personal observations over 50 years. , 1996, Journal of pediatric surgery.
[25] A. Graham,et al. The neural crest , 2003, Current Biology.
[26] G. Di Cairano,et al. Unilateral renal agenesis in a family with medullary thyroid carcinoma. , 2000, The New England journal of medicine.
[27] J. C. Law,et al. Hirschsprung disease: a genetic study , 1985, Clinical genetics.
[28] M. Fishman,et al. Multicore Myopathy, Microcephaly, Aganglionosis, and Short Stature , 1994, Journal of child neurology.
[29] P. Tam,et al. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. , 1996, Human molecular genetics.
[30] T. Krummel,et al. Multifocal ganglioneuroblastoma coexistent with total colonic aganglionosis. , 1988, Journal of pediatric surgery.
[31] G. Stoltenburg‐Didinger,et al. Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. , 1995, American journal of medical genetics.
[32] D. Teitelbaum,et al. One-Stage Transanal Soave Pullthrough for Hirschsprung Disease: A Multicenter Experience With 141 Children , 2003, Annals of surgery.
[33] Parental genotypes in the risk of a complex disease. , 2002, American journal of human genetics.
[34] N. Tommerup,et al. Familial Occurrence of Neuroblastoma, Von Recklinghausen's Neurofibromatosis, Hirschsprung's Agangliosis and Jaw‐winking Syndrome , 1989, Acta paediatrica Scandinavica.
[35] R. Ravazzolo,et al. A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease. , 2002, American journal of human genetics.
[36] S. Morrison,et al. Hirschsprung Disease Is Linked to Defects in Neural Crest Stem Cell Function , 2003, Science.
[37] T. Rohrer,et al. Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: Case of multiple neurocristopathies , 2002, Pediatric pulmonology.
[38] J. Berrod,et al. [Megacolon in adults. Apropos of 76 cases]. , 1984, Annales de gastroenterologie et d'hepatologie.
[39] L. Valanne,et al. Pitt–Hopkins syndrome in two patients and further definition of the phenotype , 2006, Clinical dysmorphology.
[40] S Holloway,et al. A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans. , 1999, American journal of human genetics.
[41] E. Rappaport,et al. Germline PHOX2B mutation in hereditary neuroblastoma. , 2004, American journal of human genetics.
[42] G. Tonini,et al. PHOX2B mutations and genetic predisposition to neuroblastoma , 2005, Oncogene.
[43] J. Milbrandt,et al. GFRα1-Deficient Mice Have Deficits in the Enteric Nervous System and Kidneys , 1998, Neuron.
[44] I. Krantz,et al. Clinical and mutational spectrum of Mowat-Wilson syndrome. , 2005, European journal of medical genetics.
[45] N. Asai,et al. Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain. , 1996, Human molecular genetics.
[46] A. Chakravarti,et al. Endothelin–3 frameshift mutation in congenital central hypoventilation syndrome , 1996, Nature Genetics.
[47] A. Weinberg,et al. Hirschsprung's disease and congenital deafness , 1977, Human Genetics.
[48] A. Munnich,et al. Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease , 1996, Nature Genetics.
[49] D. Cass,et al. Congenital central hypoventilation syndrome and Hirschsprung’s disease , 1998, Archives of disease in childhood.
[50] al. et,et al. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B , 1995, Science.
[51] W. Pavan,et al. SOX10 mutation disrupts neural crest development in Dom Hirschsprung mouse model , 1998, Nature Genetics.
[52] S Holloway,et al. A chromosomal deletion map of human malformations. , 1998, American journal of human genetics.
[53] A. Chakravarti,et al. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient , 1996, Nature Genetics.
[54] E. Erdoğan,et al. Anorectal Manometry During the Neonatal Period: Its Specificity in the Diagnosis of Hirschsprung's Disease , 1999, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.
[55] J. BeatoNunez,et al. [Hirschsprung's disease]. , 1951, Revista cubana de pediatria.
[56] J. Weissenbach,et al. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10 , 1993, Nature Genetics.
[57] R. Hennekam,et al. A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies. , 1999, Human molecular genetics.
[58] R. A. Epstein,et al. CONGENITAL FAILURE OF AUTOMATIC CONTROL OF VENTILATION, GASTROINTESTINAL MOTILITY AND HEART RATE , 1978 .
[59] E. Goldberg,et al. An epidemiological study of Hirschsprung's disease. , 1984, International journal of epidemiology.
[60] V. Pachnis,et al. Development of the mammalian enteric nervous system. , 1999, Current opinion in genetics & development.
[61] P. Kaplan. X linked recessive inheritance of agenesis of the corpus callosum. , 1983, Journal of medical genetics.
[62] N. Büyükpamukçu,et al. Hirschsprung-Associated Congenital Anomalies , 1997, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.
[63] L. Mulligan,et al. De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. , 1996, Human molecular genetics.
[64] P. Puri,et al. Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. , 1996, Human molecular genetics.
[65] E. Monrós,et al. Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM , 2004, Journal of Human Genetics.
[66] P. Heutink,et al. A novel susceptibility locus for Hirschsprung’s disease maps to 4q31.3–q32.3 , 2005, Journal of Medical Genetics.
[67] Waardenburg Pj. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. , 1951 .
[68] C. Ricour,et al. Total colonic aganglionosis (with or without ileal involvement): a review of 27 cases. , 1986, Journal of pediatric surgery.
[69] N. Christakis,et al. Hirschsprung's disease: associated abnormalities and demography. , 1992, Journal of pediatric surgery.
[70] J. Mulliken,et al. A new syndrome: Heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs , 1999, Genetics in Medicine.
[71] Carel Meijers,et al. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) , 1996, Nature Genetics.
[72] S. Mallory,et al. Ichthyosis, Deafness, and Hirschsprung's Disease , 1989, Pediatric dermatology.
[73] F. Halal,et al. The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation. , 1990, American journal of medical genetics.
[74] G. Gimelli,et al. Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10 , 1992, Pediatric Surgery International.
[75] A. Knudson,et al. Developmental genetics of neuroblastoma. , 1976, Journal of the National Cancer Institute.
[76] S. Borrego,et al. Ancestral RET haplotype associated with Hirschsprung’s disease shows linkage disequilibrium breakpoint at −1249 , 2005, Journal of Medical Genetics.
[77] A. Munnich,et al. Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease. , 1998, The Journal of clinical investigation.
[78] M. Ichihara,et al. Functional analysis of RET with Hirschsprung mutations affecting its kinase domain. , 2001, Gastroenterology.
[79] R. Ravazzolo,et al. PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome , 2004, Journal of Medical Genetics.
[80] C. Ayuso,et al. Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome. , 2000, American journal of medical genetics.
[81] R. Vejsada,et al. Persephin, a Novel Neurotrophic Factor Related to GDNF and Neurturin , 1998, Neuron.
[82] S. Borrego,et al. RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease , 2000, Journal of medical genetics.
[83] B. Maher,et al. Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b , 2003, American journal of medical genetics. Part A.
[84] A. Chakravarti,et al. Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene. , 1990, American journal of medical genetics.
[85] C. Hall. Werner's mesomelic dysplasia with ventricular septal defect and Hirschsprung's disease , 2005, Pediatric Radiology.
[86] R. Hammer,et al. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons , 1994, Cell.
[87] E. Niebuhr,et al. An epidemiological study of Hirschsprung's disease and additional anomalies , 1994, Acta paediatrica.
[88] L. Mulligan,et al. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. , 1994, Human molecular genetics.
[89] A. Munnich,et al. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. , 2000, American journal of human genetics.
[90] R. Skinner,et al. Hirschsprung's Disease and Congenital Deafness , 1973, Journal of medical genetics.
[91] F. Baas,et al. The Phox2B homeobox gene is mutated in sporadic neuroblastomas , 2004, Oncogene.
[92] B. Ponder,et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A , 1993, Nature.
[93] A. Munnich,et al. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. , 1995, Human molecular genetics.
[94] L. W. Young,et al. Coexistent neuroblastoma and Hirschsprung's disease —Another manifestation of the neurocristopathy? , 1979, Pediatric Radiology.
[95] L. Mulligan,et al. De Novo Mutation of GDNF, Ligand for the RET/GDNFR-α Receptor Complex, in Hirschsprung Disease , 1996 .
[96] A. Munnich,et al. Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease , 2005, Journal of Medical Genetics.
[97] A. Munnich,et al. C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease. , 1996, The Journal of clinical endocrinology and metabolism.
[98] J. Saurat,et al. Glial Cell-Line Derived Neurotrophic Factor-Mediated RET Signaling Regulates Spermatogonial Stem Cell Fate1 , 2006, Biology of reproduction.
[99] K. Laurence,et al. Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy. , 1975, Journal of medical genetics.
[100] A. Scherzer,et al. Meningomyelocele and Hirschprung disease: theoretical and clinical significance. , 1985, Pediatrics.
[101] J. Mateus,et al. Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. , 1988, Journal of medical genetics.
[102] I. Fariñas,et al. GFRα1 Is an Essential Receptor Component for GDNF in the Developing Nervous System and Kidney , 1998, Neuron.
[103] P. Aurora,et al. Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease. , 1999, Clinical dysmorphology.
[104] A. Munnich,et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome , 2003, Nature Genetics.
[105] V. Jasonni,et al. Total colonic aganglionosis. , 1998, Seminars in pediatric surgery.
[106] C. Albanese,et al. Perineal one-stage pull-through for Hirschsprung's disease. , 1999, Journal of pediatric surgery.
[107] A. Ballabio,et al. Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. , 1996, Human molecular genetics.
[108] H. Gao,et al. [Neurturin: a relative of glial-cell-line-derived neurotrophic factor]. , 1998, Sheng li ke xue jin zhan [Progress in physiology].
[109] P. Beales,et al. Bardet–Biedl syndrome: beyond the cilium , 2007, Pediatric Nephrology.
[110] D. Teitelbaum,et al. Are the long-term results of the transanal pull-through equal to those of the transabdominal pull-through? A comparison of the 2 approaches for Hirschsprung disease. , 2007, Journal of pediatric surgery.
[111] N. Nomura,et al. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease , 2001, Nature Genetics.
[112] M. Vekemans,et al. PMX2B, a new candidate gene for Hirschsprung's disease , 2003, Clinical genetics.
[113] G. Bouffard,et al. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome , 2000, Nature Genetics.
[114] J. Milbrandt,et al. Mice expressing a dominant-negative Ret mutation phenocopy human Hirschsprung disease and delineate a direct role of Ret in spermatogenesis , 2004, Development.
[115] M. Yanagisawa,et al. The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes. , 1989, Proceedings of the National Academy of Sciences of the United States of America.
[116] J. Osinga,et al. RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor. , 2005, Cancer research.
[117] R. Ravazzolo,et al. A common haplotype at the 5′ end of the RET proto‐oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression , 2005, Human mutation.
[118] S. Moore,et al. Clinical outcome and long-term quality of life after surgical correction of Hirschsprung's disease. , 1996, Journal of pediatric surgery.
[119] E. Berry-Kravis,et al. Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. , 2005, American journal of respiratory and critical care medicine.
[120] M. Savage,et al. Hypothalamic-pituitary dysfunction and Hirschsprung's disease in the Bardet-Biedl syndrome. , 1988, Helvetica paediatrica acta.
[121] D. Hackam,et al. Enterocolitis after the surgical treatment of Hirschsprung's disease: risk factors and financial impact. , 1998, Journal of pediatric surgery.
[122] S. Olson,et al. Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2. , 1998, American journal of medical genetics.
[123] J. Janik,et al. Ileal atresia with total colonic aganglionosis. , 1997, Journal of pediatric surgery.
[124] B. Pasini,et al. Frequency of RET mutations in long‐ and short‐segment Hirschsprung disease , 1997, Human mutation.
[125] P. Lane,et al. Association of megacolon with a new dominant spotting gene (Dom) in the mouse. , 1984, The Journal of heredity.
[126] P. Goodfellow,et al. Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. , 1994, Proceedings of the National Academy of Sciences of the United States of America.
[127] J. Jacobs,et al. An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome , 2004, Acta Neuropathologica.
[128] A. Munnich,et al. Mutations of the RET-GDNF signaling pathway in Ondine's curse. , 1998, American journal of human genetics.
[129] D. Brunoni,et al. Syndrome identification case report 92: Hirschsprung megacolon, cleft lip and palate, mental retardation, and minor congenital malformations. , 1983, The Journal of clinical dysmorphology.
[130] H. Pambakian,et al. Suction biopsy in Hirschsprung's disease. , 1986, Archives of disease in childhood.
[131] Mart Saarma,et al. Defects in enteric innervation and kidney development in mice lacking GDNF , 1996, Nature.
[132] B. Kerr,et al. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. , 1998, Journal of medical genetics.
[133] J. Osinga,et al. A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. , 1999, American journal of human genetics.
[134] R. Hofstra,et al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma , 1994, Nature.
[135] A. Verloes,et al. Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature. , 1993, European journal of pediatrics.
[136] E. Passarge. The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families. , 1967, The New England journal of medicine.
[137] M. Goossens,et al. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. , 2001, Human molecular genetics.
[138] A. Munnich,et al. Werner mesomelic dysplasia with Hirschsprung disease , 2003, American journal of medical genetics. Part A.
[139] A. Chakravarti,et al. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. , 1995, Human molecular genetics.
[140] A. Chakravarti,et al. Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility. , 1998, Genomics.
[141] S. Borrego,et al. Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease. , 1998, The Journal of clinical endocrinology and metabolism.
[142] A. Ballabio,et al. Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. , 1999, American journal of human genetics.
[143] A. von Deimling,et al. Investigation of germline GFR alpha-1 mutations in Hirschsprung disease. , 1999, Journal of medical genetics.
[144] P. Baird,et al. Hirschsprung disease in a large birth cohort. , 1985, Teratology.
[145] I. Fariñas,et al. Renal and neuronal abnormalities in mice lacking GDNF , 1996, Nature.
[146] P. Sham,et al. TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease. , 2005, Human molecular genetics.
[147] R. Hammer,et al. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice , 1994, Cell.
[148] V. Sheffield,et al. Mutations in MKKS cause Bardet-Biedl syndrome , 2001, Nature Genetics.
[149] V. Pachnis,et al. Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies , 2007, Nature Reviews Neuroscience.
[150] D. S. Lin,et al. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. , 1998, American journal of human genetics.
[151] N. Rahman,et al. PHOX2B analysis in non‐syndromic neuroblastoma cases shows novel mutations and genotype–phenotype associations , 2006, American journal of medical genetics. Part A.
[152] V. Pachnis,et al. Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development. , 2006, Developmental biology.
[153] W. Pavan,et al. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3 , 2000, Human Genetics.
[154] A. Munnich,et al. Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. , 2001, American journal of human genetics.
[155] A. Chakravarti. Endothelin receptor-mediated signaling in hirschsprung disease. , 1996, Human molecular genetics.
[156] S. Al-Alaiyan,et al. Agenesis of Corpus Callosum, Hypertrophic Pyloric Stenosis and Hirschsprung Disease: Coincidence or Common Etiology? , 1996, Neuropediatrics.
[157] James G. Chandler,et al. Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations. , 1983, Pediatrics.
[158] M. Wegner,et al. Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[159] M. Dehan,et al. The French Congenital Central Hypoventilation Syndrome Registry , 2005 .
[160] A. Chakravarti,et al. A genetic study of Hirschsprung disease. , 1990, American journal of human genetics.
[161] K. Toomey,et al. Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. , 1983, The Journal of pediatrics.
[162] E. Attiyeh,et al. Hirschsprung Disease in an Infant with a Contiguous Gene Syndrome of Chromosome 13 , 1999, American journal of medical genetics.
[163] W. Meier-Ruge,et al. Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung's disease. , 1972, Journal of pediatric surgery.
[164] X. Morin,et al. The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives , 1999, Nature.
[165] B. Ponder,et al. Mutations of the RET proto-oncogene in Hirschsprung's disease , 1994, Nature.
[166] S. Huson,et al. Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies? , 1994, Journal of medical genetics.
[167] R. Hammer,et al. Dual genetic pathways of endothelin-mediated intercellular signaling revealed by targeted disruption of endothelin converting enzyme-1 gene. , 1998, Development.
[168] L. Nelles,et al. 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. , 2003, American journal of human genetics.
[169] J. Templeton,et al. Association of Hirschsprung's disease and imperforate anus in a patient with “Cat-eye” syndrome , 1984, Pediatric Radiology.
[170] L. Farrer,et al. Chromosome 13 q deletion with Waardenburg syndrome : further evidence for a gene involved in neural crest function on 13 q , 2022 .
[171] Masashi Yanagisawa,et al. A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease , 1994, Cell.
[172] M. Santoro,et al. The RET receptor: function in development and dysfunction in congenital malformation. , 2001, Trends in genetics : TIG.
[173] R. Ravazzolo,et al. Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung’s disease , 2003, Journal of medical genetics.
[174] A. von Deimling,et al. Investigation of germline GFRα-1 mutations in Hirschsprung disease , 1999 .
[175] Mark C. Coles,et al. Tyrosine kinase receptor RET is a key regulator of Peyer’s Patch organogenesis , 2007, Nature.
[176] R. A. Decker,et al. Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. , 1998, Human molecular genetics.
[177] Frank Costantini,et al. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret , 1994, Nature.
[178] J. Chatten,et al. Familial neuroblastoma. Report of a kindred with multiple disorders, including neuroblastomas in four siblings. , 1967, The New England journal of medicine.
[179] A. Chapelle,et al. Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis , 1993, Nature Genetics.
[180] F. Soave. Hirschsprung's disease. Technique and results of Soave's operation , 1966, The British journal of surgery.
[181] M. Gadd,et al. Hirschsprung's disease in a kindred: a possible clue to the genetics of the disease. , 1982, Journal of pediatric surgery.
[182] M. Handel,et al. Mouse ret finger protein (rfp) proto-oncogene is expressed at specific stages of mouse spermatogenesis. , 1996, Developmental genetics.
[183] A. Biton,et al. Cys 618 Arg mutation in the RET proto‐oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting , 1997, Human mutation.
[184] R. A. Decker,et al. Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease. , 1995, Surgery.
[185] K. Hardy,et al. Megacolon in adults , 1969, Diseases of the Colon & Rectum.
[186] H. Mandel,et al. Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease. , 1993, American journal of medical genetics.
[187] A. Buj-Bello,et al. Characterization of a multicomponent receptor for GDNF , 1996, Nature.
[188] D. Bredesen,et al. The RET proto‐oncogene induces apoptosis: a novel mechanism for Hirschsprung disease , 2000, The EMBO journal.
[189] Kevin M. Bradley,et al. Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease. , 2005, Human molecular genetics.
[190] J. Osinga,et al. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) , 1999, Journal of medical genetics.
[191] M. Marazita,et al. Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome. , 1993, American journal of medical genetics.
[192] R. Hofstra,et al. Exon structure and flanking intronic sequences of the human RET proto-oncogene. , 1993, Biochemical and biophysical research communications.
[193] C. Healey,et al. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. , 1994, Human molecular genetics.
[194] P. Tam,et al. Incidence of RET mutations in patients with Hirschsprung's disease. , 2000, Journal of pediatric surgery.
[195] L. Farrer,et al. Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. , 1995, Journal of medical genetics.
[196] A. Wakizaka,et al. Point nucleotidic changes in both the RET proto-oncogene and the endothelin-B receptor gene in a Hirschsprung disease patient associated with Down syndrome. , 1999, The Tohoku journal of experimental medicine.
[197] J. Kernohan,et al. MYENTERIC PLEXUS IN CONGENITAL MEGACOLON: Study of Eleven Cases , 1948 .
[198] J. Lupski,et al. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations , 2004, Nature Genetics.
[199] T. Grundström,et al. The basic helix‐loop‐helix transcription factor E2–2 is involved in T lymphocyte development , 2000, European journal of immunology.
[200] R. Hofstra,et al. Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? , 2002, American journal of medical genetics.
[201] P. Kaplan,et al. Piebaldism-Waardenburg syndrome: histopathologic evidence for a neural crest syndrome. , 1988, American journal of medical genetics.
[202] R. Ravazzolo,et al. A common variant located in the 3′UTR of the RET gene is associated with protection from Hirschsprung disease , 2007, Human mutation.
[203] A. Munnich,et al. Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease , 1997, European journal of human genetics : EJHG.
[204] B. Pasini,et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease , 1994, Nature.
[205] T. Matise,et al. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. , 1994, Human molecular genetics.
[206] W. R. Newbern. Hirschsprung's disease--the Duhamel modification. , 1967, The American journal of gastroenterology.
[207] J. Celli,et al. Association of multiple endocrine neoplasia type 2 and Hirschsprung disease , 1998, Journal of internal medicine.
[208] M. Garcia-Barceló,et al. Association study of PHOX2B as a candidate gene for Hirschsprung’s disease , 2003, Gut.
[209] Q. Duh,et al. Medullary thyroid carcinoma , 2000, Cancer.
[210] M. Saarma,et al. Regulation of cell fate decision of undifferentiated spermatogonia by GDNF. , 2000, Science.
[211] P. Kiss,et al. Association of 13q deletion and Hirschsprung's disease. , 1989, Journal of medical genetics.
[212] E. Grice,et al. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk , 2005, Nature.
[213] C. Disteche,et al. Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3) , 2004, Human Genetics.
[214] H. Schackert,et al. Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients , 2003, Journal of medical genetics.
[215] H. Tsuji,et al. Management and long-term follow-up of infants with total colonic aganglionosis. , 1999, Journal of pediatric surgery.
[216] Nathalie Boddaert,et al. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. , 2007, American journal of human genetics.
[217] A. Munnich,et al. Mutations of the RET gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locus , 2005, Journal of Medical Genetics.
[218] M. Davenport,et al. The Kaufman-McKusick syndrome: another association. , 1989, Journal of pediatric surgery.
[219] M. Verdy,et al. Hirschsprung's disease in a family with multiple endocrine neoplasia type 2. , 1982, Journal of pediatric gastroenterology and nutrition.
[220] I. Gómez de Terreros,et al. Efficiency of the Anorectal Manometry for the Diagnosis of Hirschsprung's Disease in the Newborn Period* , 1995, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.
[221] N. Dennis,et al. Interstitial deletion of distal 13q associated with Hirschsprung's disease. , 1989, Journal of medical genetics.
[222] S. Borrego,et al. Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease , 2003, Journal of medical genetics.
[223] Y. Wada,et al. Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. , 1997, Journal of medical genetics.
[224] S. Yazbeck,et al. Ultrashort Hirschsprung's disease: myth or reality. , 1990, Journal of pediatric surgery.
[225] P. Goodfellow,et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. , 1993, Human molecular genetics.
[226] H. Schackert,et al. Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease. , 1999, American journal of human genetics.
[227] Carel Meijers,et al. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. , 2005, American journal of human genetics.
[228] K. Kidd,et al. Global survey of haplotype frequencies and linkage disequilibrium at the RET locus , 2003, European Journal of Human Genetics.
[229] R. Shprintzen,et al. Hirschsprung megacolon and cleft palate in two sibs. , 1981, Journal of craniofacial genetics and developmental biology.
[230] A. Munnich,et al. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. , 2004, American journal of human genetics.
[231] A. Munnich,et al. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. , 2005, American journal of human genetics.
[232] J. Osinga,et al. RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems , 2000, Human mutation.
[233] T. Matise,et al. A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10 , 1993, Nature Genetics.
[234] I. Ceccherini,et al. Molecular mechanisms of RET‐induced Hirschsprung pathogenesis , 2006, Annals of medicine.
[235] W. Berdon,et al. Hirschsprung's disease, Ondine's curse, and neuroblastoma-manifestations of neurocristopathy , 2006, Pediatric Radiology.
[236] Frank Costantini,et al. GDNF/Ret signaling and the development of the kidney. , 2006, BioEssays : news and reviews in molecular, cellular and developmental biology.
[237] R. Ravazzolo,et al. A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease , 2000, European Journal of Human Genetics.
[238] J. Gallego,et al. Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways , 2003, Development.
[239] L. Al-Gazali,et al. Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome? , 1988, Journal of medical genetics.
[240] J. Osinga,et al. Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2 , 2004, European Journal of Human Genetics.
[241] Aravinda Chakravarti,et al. Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednrb , 2003, Proceedings of the National Academy of Sciences of the United States of America.
[242] M. Yanagisawa,et al. Molecular characterization of endothelin receptors. , 1992, Trends in pharmacological sciences.
[243] M. Asch,et al. Report of two patients with hypertrophic pyloric stenosis and Hirschsprung's disease. Coincident or common etiology? , 1985, The American surgeon.
[244] A. Munnich,et al. Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease. , 1998, Human molecular genetics.
[245] R. Bolande. The neurocristopathies: A unifying concept of disease arising in neural crest maldevelopment , 1974 .
[246] A. Chakravarti,et al. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. , 2000, Proceedings of the National Academy of Sciences of the United States of America.
[247] J. Milbrandt,et al. Artemin, a Novel Member of the GDNF Ligand Family, Supports Peripheral and Central Neurons and Signals through the GFRα3–RET Receptor Complex , 1998, Neuron.
[248] O. Mäkitie,et al. Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients , 1993, European Journal of Pediatrics.
[249] A. Rosenthal,et al. The GDNF Protein FamilyGene Ablation Studies Reveal What They Really Do and How , 1999, Neuron.
[250] S. Holland-Cunz,et al. Isolation and cultivation of neuronal precursor cells from the developing human enteric nervous system as a tool for cell therapy in dysganglionosis , 2006, International Journal of Colorectal Disease.
[251] A. Munnich,et al. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. , 1995, Human molecular genetics.
[252] J. Milbrandt,et al. GFR alpha1-deficient mice have deficits in the enteric nervous system and kidneys. , 1998, Neuron.
[253] A. Wakizaka,et al. Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome. , 1998, Pediatrics.
[254] V. D’Agati,et al. Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis. , 2001, Genes & development.
[255] S. Fukuyama,et al. Neuroregulator RET initiates Peyer's-patch tissue genesis. , 2007, Immunity.
[256] M. Bodian,et al. A family study of Hirschsprung's disease , 1963 .
[257] Y. Aigrain,et al. [Neurocristopathy. The association of Hirschsprung's disease-ganglioneuroma with autonomic nervous system dysfunction in 2 children]. , 1989, Archives francaises de pediatrie.
[258] B. Burke,et al. 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): new X-linked syndrome? , 1997, American journal of medical genetics.
[259] B. Ponder,et al. GDNF signalling through the Ret receptor tyrosine kinase , 1996, Nature.
[260] R. Agarwala,et al. The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. , 1999, Genome research.
[261] J. Delleman,et al. Heterogeneity in Waardenburg syndrome. , 1977, American journal of human genetics.
[262] A. Munnich,et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) , 1996, Nature Genetics.