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Molecular Diagnosis and Treatment of Multiple Endocrine Neoplasia Type 2B in Ethnic Han Chinese.
Endocr Metab Immune Disord Drug Targets. 2021;21(3):534-543. doi: 10.2174/1871530320666200910112230.
Endocr Metab Immune Disord Drug Targets. 2021.
PMID: 32914730
RESULTS: All 5 patients initially presented MTC, but none had biochemically cured postoperatively. 2 also presented bilateral PHEO after adrenal-sparing surgery, 1 needed steroid replacement. Further, a total of 32 MEN 2B patients from literature were clustered with 28 ava …
RESULTS: All 5 patients initially presented MTC, but none had biochemically cured postoperatively. 2 also presented bilateral PHEO after adr …
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype.
Klemetti P, Valta H, Kostjukovits S, Taskinen M, Toiviainen-Salo S, Mäkitie O.
Klemetti P, et al.
Clin Genet. 2017 Aug;92(2):204-207. doi: 10.1111/cge.12969. Epub 2017 Mar 19.
Clin Genet. 2017.
PMID: 28094436
We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP sequencing revealed compound heterozygosity for g.70A>G mutation and a 10-nucleotide duplication at position -13 (TACTCTGTGA). ...Two of them …
We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP seque …
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A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling.
Moore SW, Zaahl MG.
Moore SW, et al.
J Pediatr Surg. 2008 Feb;43(2):325-9. doi: 10.1016/j.jpedsurg.2007.10.021.
J Pediatr Surg. 2008.
PMID: 18280283
BACKGROUND: Hirschsprung's disease (HSCR) represents a complex disorder of signaling molecules, resulting from the effects of at least 9 known susceptibility genes. ...SSCP variants were validated and automated sequencing techniques performed on polymerase ch …
BACKGROUND: Hirschsprung's disease (HSCR) represents a complex disorder of signaling molecules, resulting from the effects of …
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RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.
Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, López-Alonso M, Hernández A, Wright FA, Antiñolo G, Eng C.
Borrego S, et al.
J Med Genet. 2000 Aug;37(8):572-8. doi: 10.1136/jmg.37.8.572.
J Med Genet. 2000.
PMID: 10922382
Free PMC article.
BACKGROUND: Hirschsprung disease (HSCR), which may be sporadic or familial, occurs in 1:5000 live births and presents with functional intestinal obstruction secondary to aganglionosis of the hindgut. ...The distributions of haplotypes between cases and contro …
BACKGROUND: Hirschsprung disease (HSCR), which may be sporadic or familial, occurs in 1:5000 live births and presents w …
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