Results 251 to 260 of about 54,466 (294)
Some of the next articles are maybe not open access.
New England Journal of Medicine, 2004
Although most children with Turner's syndrome are under the care of specialists, the authors of this article suggest that most affected women can best be served by their primary care practitioners, with the use of informed judgment about the need for referral to specialists.
Virginia P, Sybert, Elizabeth, McCauley
openaire +2 more sources
Although most children with Turner's syndrome are under the care of specialists, the authors of this article suggest that most affected women can best be served by their primary care practitioners, with the use of informed judgment about the need for referral to specialists.
Virginia P, Sybert, Elizabeth, McCauley
openaire +2 more sources
Graefe's Archive for Clinical and Experimental Ophthalmology, 2002
Turner's syndrome is a chromosomal abnormality where phenotypic females have either a missing X chromosome or a structural aberration of the X chromosome. Several ocular diseases have been associated with Turner's syndrome in the past, including one case only of proven iridocyclitis.In this study we report the clinical findings of three females with ...
M. ACCORINTI +3 more
openaire +3 more sources
Turner's syndrome is a chromosomal abnormality where phenotypic females have either a missing X chromosome or a structural aberration of the X chromosome. Several ocular diseases have been associated with Turner's syndrome in the past, including one case only of proven iridocyclitis.In this study we report the clinical findings of three females with ...
M. ACCORINTI +3 more
openaire +3 more sources
Turner Syndrome and Craniopharyngioma
Indian Journal of Pediatrics, 2021Turner syndrome (TS) affects nearly 1 in 2000 live births (1) and craniopharyngioma, a benign brain tumor, has been reported to occur at an incidence of 1.3 per million (2). These rare disorders are not known to coexist. The authors report a patient with incidental suprasellar mass who was diagnosed with both craniopharyngioma and TS, a rare ...
Sophy Korula +4 more
openaire +2 more sources
Mosaicism in Turner's syndrome
Nature, 1997Skuse et al.1 report that females with Turner's syndrome who have retained the paternal X chromosome (Xp) tend to achieve better cognition and social adjustment scores than those with the maternal X (Xm). As sex-chromosome mosaicism is frequent in Turner's syndrome, we argue that the presence of residual Y chromosomal sequences in the brain, which is ...
W, Henn, K D, Zang
openaire +2 more sources
The Indian Journal of Pediatrics, 1968
A case of Turner’s syndrome is reported whose chief features were stunted growth, short neck, cubitus valgus, sexual infantilism, bilaterally longitudinal depressions in front of the chest wall and shortening of the fourth toes, including the metatarsals and phalanges. The sex chromatin was negative i.e. genetic male.
K D, Mohanta +3 more
openaire +2 more sources
A case of Turner’s syndrome is reported whose chief features were stunted growth, short neck, cubitus valgus, sexual infantilism, bilaterally longitudinal depressions in front of the chest wall and shortening of the fourth toes, including the metatarsals and phalanges. The sex chromatin was negative i.e. genetic male.
K D, Mohanta +3 more
openaire +2 more sources
Endocrinology and Metabolism Clinics of North America, 1991
Turner syndrome occurs in 1 of every 2000 to 5000 live female births and is now recognized to encompass a broad range of chromosomal karyotypes and clinical phenotypes. Many of these individuals appear completely normal save for their short stature. This article reviews the major clinical and physiologic abnormalities that can occur and places special ...
openaire +2 more sources
Turner syndrome occurs in 1 of every 2000 to 5000 live female births and is now recognized to encompass a broad range of chromosomal karyotypes and clinical phenotypes. Many of these individuals appear completely normal save for their short stature. This article reviews the major clinical and physiologic abnormalities that can occur and places special ...
openaire +2 more sources
Autoimmunity and Turner's syndrome
Autoimmunity Reviews, 2012Turner Syndrome (TS) is a common genetic disorder, affecting female individuals, resulting from the partial or complete absence of one sex chromosome, and occurring in approximately 50 per 100,000 liveborn girls. TS is associated with reduced adult height and with gonadal dysgenesis, leading to insufficient circulating levels of female sex steroids and
Ana, Lleo +3 more
openaire +2 more sources
Turner syndrome and haploinsufficiency
Current Opinion in Genetics & Development, 1998Turner syndrome was one of the first human genetic disorders ascribed to haploinsufficiency but the identification of specific genes responsible for the phenotype has been problematic. Recent data point to several candidate genes, some new and some old, for specific aspects of the phenotype associated with monosomy X in humans.
A R, Zinn, J L, Ross
openaire +2 more sources
Gonadoblastoma and Turner Syndrome
Journal of Urology, 2006The presence of a Y chromosome in the extrascrotal gonad of patients with intersex disorders has been associated with a high risk of GB and, potentially, GCT. Recently, modern sophisticated genotyping has revealed a subgroup of TS cases with a mosaic karyotype expressing a Y chromosome.
William O, Brant +7 more
openaire +2 more sources
The Pituitary in Turner Syndrome
Endocrine Pathology, 2005Although Turner syndrome is not uncommon, studies of the pituitary in this condition are few. We undertook a histochemical and immunohistochemical study of four cases. As expected, "gonadal failure cells" were seen, but without recognizable gonadotroph hyperplasia. No gonadotroph adenomas were encountered.
B W, Scheithauer +4 more
openaire +2 more sources