Zobrazeno 1 - 10 of 14 pro vyhledávání: '"R H, Ruvalcaba"'
1
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)
Autor: I, Bach, H G, Brunner, P, Beighton, R H, Ruvalcaba, W, Reardon, M E, Pembrey, S D, van der Velde-Visser, G A, Bruns, C W, Cremers, F P, Cremers
Publikováno v: American journal of human genetics. 51(1)
Employing various probes from the proximal part of the Xq21 region, which is known to harbor the DFN3 gene, we have investigated 13 unrelated male probands with X-linked deafness, to detect possible deletions. For two of these patients, microdeletion
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::05b05772ae1eb1be5ac0b006492164cd
https://pubmed.ncbi.nlm.nih.gov/1609803
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3
X-linked mental deficiency megalotestes syndrome
Autor: R H, Ruvalcaba, S A, Myhre, E C, Roosen-Runge, J B, Beckwith
Publikováno v: JAMA. 238(15)
Members of two kindreds had mental deficiency and megalotestes. The familial occurrence suggests an X-linked recessive trait or autosomal-dominant trait with male sex limitation. The increased testicular size was apparently due to excess fluid conten
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d2eaa9654c39bc7d0a89ca1c4bd9c19a
https://pubmed.ncbi.nlm.nih.gov/578251
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6
Discordance of congenital bilateral anorchia in uniovular twins: 17 years of observations on growth and development
Autor: R H, Ruvalcaba, H P, Gogué, V C, Kelley
Publikováno v: Pediatrics. 67(2)
We have reported observations of growth and development made over a 16-year period on a subject who suffered bilateral congenital anorchia and his uniovular twin brother. The anorchic individual was treated with oxandrolone for a period of 3.6 years
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::510fa4cbc18d313dc0a20a4acc32c131
https://pubmed.ncbi.nlm.nih.gov/7195543
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7
Studies of anabolic steroids. VI. Effect of prolonged administration of oxandrolone on growth in children and adolescents with gonadal dysgenesis
Autor: D C, Moore, D S, Tattoni, R H, Ruvalcaba, G A, Limbeck, V C, Kelley
Publikováno v: The Journal of pediatrics. 90(3)
Twenty-five patients with Turner Syndrome were treated with oxandrolone for six or more months. Mean growth velocity for the first year of treatment was significantly greater than pretreatment control growth velocity. Overall, there was no excessive
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::49e1e56fdebab9c185a111ad5d9723b1
https://pubmed.ncbi.nlm.nih.gov/190369
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8
Hypogonadism in Prader-Willi syndrome
Autor: N, Wannarachue, R H, Ruvalcaba
Publikováno v: American journal of mental deficiency. 79(5)
Sexual development was evaluated in 9 female and 2 male subjects with Prader-Willi syndrome. The process of sexual development and degree of genital development attained were found to be variable but abnormal in all subjects. Hypothalamic-pituitary-g
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7518a3963a5ce23e4f105b1733314b8f
https://pubmed.ncbi.nlm.nih.gov/164772
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10
Testosterone therapy in Klinefelter's syndrome (a prolonged observation)
Autor: R H, Ruvalcaba
Publikováno v: Andrologia. 21(6)
Clinical observations and pituitary gonadal hormone data was gathered in six patients with Klinefelter's Syndrome during a prolonged period of time. The secondary sex characteristics increased and the gynecomastia generally disappeared. Personality c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::339056637ade80484e77135c7dab518f
https://pubmed.ncbi.nlm.nih.gov/2619099
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