Search Results - "Boucekkine, C"

Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences by Boucekkine, C, Toublanc, J E, Abbas, N, Chaabouni, S, Ouahid, S, Semrouni, M, Jaubert, F, Toublanc, M, McElreavey, K, Vilain, E

“…Testicular differentiation can occur in the absence of the Y chromosome giving XX sex-reversed males. Although Y chromosomal sequences can be detected in the…”
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XY Sex Reversal Associated with a Deletion 5' to the SRY "HMG Box" in the Testis-Determining Region by McElreavy, Ken, Vilain, Eric, Abbas, Nacer, Costa, Jean-Marc, Souleyreau, Nicole, Kucheria, Kiran, Boucekkine, Chafika, Thibaud, Elisabeth, Brauner, Raja, Flamant, Francoise, Fellous, Marc

“…The human testis-determining factor resides within a 35-kilobase (kb) region of the Y chromosome immediately adjacent to the pseudoautosomal boundary. A…”
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SRY-negative XX fetus with complete male phenotype by Vilain, E, Le Fiblec, B, Morichon-Delvallez, N, Brauner, R, Dommergues, M, Dumez, Y, Jaubert, F, Boucekkine, C, McElreavey, K, Vekemans, M

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Presence of positive feedback in males with Klinefelter's syndrome by Boucekkine, C, Semrouni, M

“…This study examined the effect of 17 beta-estradiol (E2) on basal and luteinizing hormone (LH)-releasing hormone (LHRH)-stimulated gonadotropin secretion in 9…”
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Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation by Toublanc, J E, Boucekkine, C, Abbas, N, Barama, D, Vilain, E, McElreavey, K, Toublanc, M, Fellous, M

“…Ten patients were studied who had sexual ambiguity having in common a 46.XX karyotype and testicular tissue. They were aged from one month to 23 years; some of…”
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The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability by Boucekkine, C, Toublanc, J E, Abbas, N, Semrouni, M, Vilain, E, McElreavey, K, Mugneret, F, Fellous, M

“…Four cases of XX patients with testis development are reported. The aim of this study was to describe their clinical features and to see if there was any…”
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A molecular approach to the study of the human Y chromosome and anomalies of sex determination in man by Seboun, E, Leroy, P, Casanova, M, Magenis, E, Boucekkine, C, Disteche, C, Bishop, C, Fellous, M

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Evidence of a preferential inactivation of the paternally derived X chromosome in a 46,XX true hermaphrodite by BOUCEKKINE, C, NAFA, D, CASANOVA-BETTANE, M, LATRON, F, FELLOUS, M, BENMILOUD, M

“…The pattern of inheritance of several X polymorphic markers is studied in the pedigree of a 46,XX true hermaphrodite. The results of the Xga, 12E7, and G6PD…”
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H-Y positive 46 XX true hermaphroditism with intrascrotal uterus by Boucekkine, C, Menasria, A, Chouiter, A, Benelkadi, N, Benmiloud, M

“…A rare form of true hermaphroditism with hypergonadotrophic hypogonadism, gynaecomastia, presence of an intrascrotal uterus, and 46 XX karyotype, is reported…”
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Absence of H-Y antigen in a case of sporadic pure gonadal dysgenesis by BOUCEKKINE, C, BENMILOUD, M, HIMEUR, B, CHOUITER, A, BACHAMMAR, M

“…H-Y activity, endocrine function and gonadal histology were studied in a phenotypic female presenting with features of sporadic 46,XY pure gonadal dysgenesis…”
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A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY by MCELREAVEY, K, RAPPAPORT, R, TEMTAMY, S, NIHOUL-FEKETE, C, BRAUNER, R, FELLOUS, M, VILAIN, E, ABBAS, N, RICHAUD, F, LORTAT-JACOB, S, BERGER, R, LECONIAT, M, BOUCEKKINE, C, KUCHERIA, K

“…A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3…”
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Late-onset adrenal hyperplasia in hirsutism by Kuttenn, F, Couillin, P, Girard, F, Billaud, L, Vincens, M, Boucekkine, C, Thalabard, J C, Maudelonde, T, Spritzer, P, Mowszowicz, I

“…We studied the incidence of late-onset adrenal hyperplasia as a cause of hirsutism, its association with the major histocompatibility complex, and its clinical…”
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XY sex reversal associated with a nonsense mutation in SRY by McElreavey, K D, Vilain, E, Boucekkine, C, Vidaud, M, Jaubert, F, Richaud, F, Fellous, M

“…Sex determination in humans is mediated through the expression of a testis-determining gene on the Y chromosome. In humans, a candidate gene for the…”
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A Human Y-Linked DNA Polymorphism and its Potential for Estimating Genetic and Evolutionary Distance by Casanova, Myriam, Leroy, Pascale, Boucekkine, Chafika, Weissenbach, Jean, Bishop, Colin, Fellous, Marc, Purrello, Michele, Fiori, Gianmario, Siniscalco, Marcello

“…A human DNA sequence (p12f$_{2}$), derived from a partial Y-chromosome genomic library and showing homology with the X and Y chromosomes and with an…”
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A possible common origin of Y-negativë human XX males and XX true hermaphrodites by EDDINE ABBAS, N, TOUBLANC, J. E, CHAFIKA BOUCEKKINE, TOUBLANC, M, AFFARA, N. A, JOB, J.-C, FELLOUS, M

“…We have studied nine patients aged 1 month to 16 years with 46, XX karyotypes and testicular tissue. Some of these patients were followed through puberty…”
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Treatment of central precocious puberty with sustained-release triptorelin by Boucekkine, C, Blumberg-Tick, J, Roger, M, Thomas, F, Chaussain, J L

“…Central precocious puberty is defined as the appearance of morphological and biological changes induced by the early maturation of the…”
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Treatment of acromegaly with a new slow release somatostatin analog, lanreotide by Boucekkine, C, Catus, F, Blumberg-Tick, J, Pholséna, M, Chanson, P, Schaison, G

“…Treatment of Acromegaly has been improved by the development of the somatostatin analogs characterized by an increased specificity and longer duration of…”
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Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis by Boucekkine, C, Vilain, E, McElreavey, K, Jaubert, F, Brauner, R, Thibaud, E, Battin, J, Toublanc, J E, Kucheria, K, Chaabouni, S

“…During mammalian embryogenesis, the presence of the SRY gene determines the bipotential gonad to develop as a testis. 46,XY sex reversal has been described in…”
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Expression of androgen receptor gene in normal subjects and patients with complete androgen insensitivity by Mestayer, C, Gabou, L, Portois, M C, Boucekkine, C, Chang, C, Mowszowicz, I

“…The Androgen Receptor (AR) mRNA was studied in cultured cells from normal subjects and 10 patients with Complete (CAI, 9 patients, 5: R-, 4: R+) or Partial…”
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Thyrotropic reserve in Sheehan's syndrome. Study in 36 patients (author's transl) by Boucekkine, C, Maoui, R, Klioua, R, Chitour, F, Benmiloud, M

“…Thyrotropic involvement is considered to be constant in Sheehan's syndrome. In this study, plasma thyroid stimulating hormone (TSH) levels were similar to…”
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