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Quoted phrase not found in phrase index: "Congenital macroorchidism"
Page 1
Macroorchidism in childhood and adolescence: an update.
De Sanctis V, Marsella M, Soliman A, Yassin M. De Sanctis V, et al. Pediatr Endocrinol Rev. 2014 Feb;11 Suppl 2:263-73. Pediatr Endocrinol Rev. 2014. PMID: 24683950 Review.
Macroorchidism is a relatively uncommon sign; however, when present, it almost always has clinical relevance. ...In these cases, the patient must be referred to specialized cytogenetic centres for determination of fragile sites. Other possible etiologies of macroorchidi …
Macroorchidism is a relatively uncommon sign; however, when present, it almost always has clinical relevance. ...In these cases, the …
The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFbeta and Activin pathways.
García M, Barrio R, García-Lavandeira M, Garcia-Rendueles AR, Escudero A, Díaz-Rodríguez E, Gorbenko Del Blanco D, Fernández A, de Rijke YB, Vallespín E, Nevado J, Lapunzina P, Matre V, Hinkle PM, Hokken-Koelega AC, de Miguel MP, Cameselle-Teijeiro JM, Nistal M, Alvarez CV, Moreno JC. García M, et al. Sci Rep. 2017 Mar 6;7:42937. doi: 10.1038/srep42937. Sci Rep. 2017. PMID: 28262687 Free PMC article.
IGSF1 (Immunoglobulin Superfamily 1) gene defects cause central hypothyroidism and macroorchidism. However, the pathogenic mechanisms of the disease remain unclear. ...The patient showed congenital central hypothyroidism with reduced TSH biopotency, over-secretion o …
IGSF1 (Immunoglobulin Superfamily 1) gene defects cause central hypothyroidism and macroorchidism. However, the pathogenic mechanisms …
A large kindred with X-linked mental retardation, marker X and macroorchidism.
Lubs H, Travers H, Lujan E, Carroll A. Lubs H, et al. Am J Med Genet. 1984 Jan;17(1):145-57. doi: 10.1002/ajmg.1320170109. Am J Med Genet. 1984. PMID: 6585140
Ten of 14 affected males, 6 of 6 affected females, 18 carriers or possible carriers, and 7 normal males were examined. Eight of 9 affected males who could be measured had macroorchidism, but their ears and mandibles were not prominent. No distinct facies were evident, alth …
Ten of 14 affected males, 6 of 6 affected females, 18 carriers or possible carriers, and 7 normal males were examined. Eight of 9 affected m …
Total body irradiation in a patient with fragile X syndrome for acute lymphoblastic leukemia in preparation for stem cell transplantation: A case report and literature review.
Collins DT, Mannina EM, Mendonca M. Collins DT, et al. Am J Med Genet A. 2015 Oct;167A(10):2444-6. doi: 10.1002/ajmg.a.37204. Epub 2015 Jun 19. Am J Med Genet A. 2015. PMID: 26097012
Fragile X syndrome (FXS) is a congenital disorder caused by expansion of CGG trinucleotide repeat at the 5' end of the fragile X mental retardation gene 1 (FMR1) on the X chromosome that leads to chromosomal instability and diminished serum levels of fragile X mental retar …
Fragile X syndrome (FXS) is a congenital disorder caused by expansion of CGG trinucleotide repeat at the 5' end of the fragile X ment …