Choroba Hirschsprunga (Polish Wikipedia)

Analysis of information sources in references of the Wikipedia article "Choroba Hirschsprunga" in Polish language version.

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  • Hall CM. Werner's mesomelic dysplasia with ventricular septal defect and Hirschsprung's disease. „Pediatr Radiol”. 10, s. 247-249, 1981. DOI: 10.1007/BF01001593. PMID: 7254925. 

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  • Soave F. A new operation for the treatment of Hirschsprung’s disease. „Surgery”. 56, s. 1007–1014, 1964. PMID: 14224580. 
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  • Kobayashi H, Hirakawa H, Puri P. Overexpression of intercellular adhesion molecule-1 (ICAM-1) and MHC class II antigen on hypertrophic nerve trunks suggests an immunopathologic response in Hirschsprung's disease. „J Pediatr Surg”. 30. 12, s. 1680-3, 1995. PMID: 8749923. 
  • Tsuto T, Okamura H, Fukui K, Obata-Tsuto HL, Terubayashi H, Yanagihara J, Iwai N, Majima S, Yanaihara N, Ibata Y. Immunohistochemical investigations of gut hormones in the colon of patients with Hirschsprung's disease. „J Pediatr Surg”. 20. 3, s. 266-70, 1985. PMID: 2409261. 
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  • Salomon R, Attie T, Pelet A, Bidaud C, Eng C, Amiel J, Sarnacki S, Goulet O, Ricour C, Nihoul-Fekete C, Munnich A, Lyonnet S. Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. „Nat Genet”. 14, s. 345-347, 1996. PMID: 8896569. 
  • Sakai T, Wakizaka A, Nirasawa Y, Ito Y. Point nucleotidic changes in both the RET proto-oncogene and the endothelin-B receptor gene in a Hirschsprung disease patient associated with Down syndrome. „Tohoku J Exp Med”. 187, s. 43-47, 1999. PMID: 10458491. 
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  • Bottani A, Xie YG, Binkert F, Schinzel A. A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus. „Hum Genet”. 87, s. 748-750, 1991. PMID: 1937482. 
  • Lurie IW, Supovitz KR, Rosenblum-Vos LS, Wulfsberg EA. Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature. „Genet Couns”. 5. 11-14, 1994. PMID: 8031530. 
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  • McMilin KD, Reiss JA, Brown MG, Black MH, Buckmaster DA, Durum CT, Gunter KA, Lawce HJ, Berry TL, Lamb OA, Olson CL, Weeks FF, Yoshitomi MJ, Jacky PB, Olson SB, Magenis RE. Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2. „Am J Med Genet”. 78, s. 36-43, 1998. PMID: 9637421. 
  • Wakamatsu N, Yamada Y, Yamada K, On T, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. „Nat Genet”. 27, s. 369-370, 2001. PMID: 11279515. 
  • Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M. Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. „Am J Med Genet”. 56, s. 322-326, 1995. PMID: 7778600. 
  • Haddad GG, Mazza NM, Defendini R, Blanc WA, Driscoll JM, Epstein MA, Epstein RA, Mellins RB. Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. „Medicine”. 57, s. 517-526, 1978. PMID: 713831. 
  • Verloes A, Elmer C, Lacombe D, Heinrichs C, Rebuffat E, Demarquez JL, Moncla A, Adam E. Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature. „Eur J Pediatr”. 152. 1, s. 75-7, 1993. PMID: 8444212. 
  • Amiel J, Salomon R, Attie T, Pelet A, Trang H, Mokhtari M, Gaultier C, Munnich A, Lyonnet S. Mutations of the RET-GDNF signaling pathway in Ondine's curse. „Am J Hum Genet”. 62, s. 715-717, 1996. PMID: 9497256. 
  • Verdy M, Weber AM, Roy CC, Morin CL, Cadotte M, Brochu P. Hirschsprung's disease in a family with multiple endocrine neoplasia type 2. „Pediatr Gastroenterol Nutr”. 1, s. 603-607, 1982. PMID: 6136579. 
  • Peretz H, Luboshitsky R, Baron E, Biton A, Gershoni R, Usher S, Grynberg E, Yakobson E, Graff E, Lapidot M. 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. „Hum Mutat”. 10, s. 155-159, 1997. PMID: 9259198. 
  • Romeo G, Ceccherini I, Celli J, Priolo M, Betsos N, Bonardi G, Seri M, Yin L, Lerone M, Jasonni V, Martucciello G. Association of multiple endocrine neoplasia type 2 and Hirschsprung disease. „J Intern Med”. 243, s. 515-520, 1998. PMID: 9681852. 
  • Goldberg RB, Shprintzen RJ. Hirschsprung megacolon and cleft palate in two sibs. „J Craniofac Genet Dev Biol”. 1, s. 185-189, 1981. PMID: 7338549. 
  • Santos H, Mateus J, Leal, MJ. Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. „J Med Genet”. 25, s. 204-208, 1988. PMID: 3351909. 
  • Al-Gazali LI, Donnai D, Mueller, RF. Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?. „J Med Genet”. 25, s. 758-761, 1988. PMID: 3236354. 
  • Laurence KM, Prosser R, Rocker I, Pearson JF, Richards, C. Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly in sibs: a case for fetoscopy. „J Med Genet”. 12, s. 334-338, 1975. PMID: 1219116. 
  • Huang T, Elias ER, Mulliken JB, Kirse DJ, Holmes LB. A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs. „Genet Med”. 1, s. 104-108, 1999. PMID: 11336448. 
  • Reynolds JF, Barber JC, Alford BA, Chandler JG, Kelly TE. Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations. „Pediatrics”. 71. 2, s. 246-9, 1983. PMID: 6823428. 
  • Reish O, Gorlin RJ, Hordinsky M, Rest EB, Burke B, Berry SA. 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?. „Am J Med Genet”. 68, s. 386-390, 1997. PMID: 9021007. 
  • Hall CM. Werner's mesomelic dysplasia with ventricular septal defect and Hirschsprung's disease. „Pediatr Radiol”. 10, s. 247-249, 1981. DOI: 10.1007/BF01001593. PMID: 7254925. 
  • Radetti G, Frick R, Pasquino B, Mengarda G, Savage MO. Hypothalamic-pituitary dysfunction and Hirschsprung's disease in the Bardet-Biedl syndrome. „Helv Paediatr Acta”. 43, s. 249-252, 1988. PMID: 3065301. 
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  • Patterson K, Toomey KE, Chandra RS. Hirschsprung disease in a 46,XY phenotypic infant girl with Smith-Lemli-Opitz syndrome. „J Pediat”. 103, s. 425-427, 1983. PMID: 6886911. 
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  • Marks RM. Endorectal split sleeve pull-through procedure for Hirschsprung’s disease. „Surg Gynecol Obstet”. 136, s. 627–628, 1973. PMID: 4690093. 
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