Notes

N26 ► Podsumowanie
↑ Sakai T, Wakizaka A, Nirasawa Y, Ito Y. Point nucleotidic changes in both the RET proto-oncogene and the endothelin-B receptor gene in oraz Hirschsprung disease patient associated with Down syndrome. Separation of retinoblastoma and esterase D loci in i patient with sporadic retinoblastoma and del(13)(q14.1q22.3). ↑ 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. Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature. ↑ Bolande RP. The neurocristopathies; a unifying concept of disease arising in neural crest maldevelopment. ↑ 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. Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. ↑ natomiast b Bolk S, Angrist M, Xie J, Yanagisawa M, Silvestri JM, Weese-Mayer DE, Chakravarti A. Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. ↑ Puffenberger EG, Kauffman ER, Bolk S, Matise TC, Washington SS, Angrist M, Weissenbach J, Garver KL, Mascari M, Ladda R, Slaugenhaupt SA, Chakravarti A. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. „Hum Mol Genet”.

↑ i b Badner JA, Sieber WK, Garver KL, Chakravarti A. A genetic study of Hirschsprung disease. An epidemiological study of Hirschsprung disease in a multiracial California population. An epidemiological study of Hirschsprung's disease. ↑ Caron P, Attie T, David D, Amiel J, Brousset F, Roger P, Munnich A, Lyonnet S. C618R mutation in exon 10 of the RET proto-oncogene in oraz kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease. ↑ Borrego S, Eng C, Sanchez B, Saez ME, Navarro E, Antinolo G. Molecular analysis of the ret and GDNF genes in zaś family with multiple endocrine neoplasia type 2A and Hirschsprung disease. ↑ 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. ↑ 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 oraz sytuacji of Hirschsprung disease edukacja .

↑ 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. Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies? ↑ 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. The use cases themselves are enclosed in parentheses. Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2. „Am J Med Genet”. ↑ tudzież b Martucciello G, Biocchini M, Dodero P, Cirillo M, Puliti A, Gimelli G. Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10. „Pediatr Surg Int”. ↑ Lamont MA, Fitchett M, Dennis NR. Interstitial deletion of distal 13q associated with Hirschsprung's disease. ↑ Meier-Ruge W, Lutterbeck PM, Herzog B, Morger R, Moser R, Scharli A. Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung's disease. ↑ Sakai T, Wakizaka A, Matsuda H, Nirasawa Y, Itoh Y. Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome.


↑ Decker RA, Peacock ML, Watson P. Hirschsprung disease in MEN 2A: increased spectrum of 'RET' exon 10 genotypes and strong genotype-phenotype correlation. ↑ Borst MJ, VanCamp JM, Peacock ML, Decker RA. ↑ Haddad GG, Mazza NM, Defendini R, Blanc WA, Driscoll JM, Epstein MA, Epstein RA, Mellins RB. ↑ oraz b Goldberg EL. ↑ Goldberg RB, Shprintzen RJ. ↑ Soave F. A new operation for the treatment of Hirschsprung’s disease. ↑ 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 działalności for imprinting. ↑ Verdy M, Weber AM, Roy CC, Morin CL, Cadotte M, Brochu P. Hirschsprung's disease in i family with multiple endocrine neoplasia type 2. „Pediatr Gastroenterol Nutr”. Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease. ↑ 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. Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. „J Med Genet”.

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