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Results: 1-15 |
Results: 15
VARIANTS OF THE TYPE-II 3-BETA-HYDROXYSTEROID DEHYDROGENASE GENE IN CHILDREN WITH PREMATURE PUBIC HAIR AND HYPERANDROGENIC ADOLESCENTS
Authors: NAYAK S LEE PA WITCHEL SF
Citation: S. Nayak et al., VARIANTS OF THE TYPE-II 3-BETA-HYDROXYSTEROID DEHYDROGENASE GENE IN CHILDREN WITH PREMATURE PUBIC HAIR AND HYPERANDROGENIC ADOLESCENTS, MOLECULAR GENETICS AND METABOLISM, 64(3), 1998, pp. 184-192
IDENTIFICATION OF HETEROZYGOTIC CARRIERS OF 21-HYDROXYLASE DEFICIENCY- SENSITIVITY OF ACTH STIMULATION TESTS
Authors: WITCHEL SF LEE PA
Citation: Sf. Witchel et Pa. Lee, IDENTIFICATION OF HETEROZYGOTIC CARRIERS OF 21-HYDROXYLASE DEFICIENCY- SENSITIVITY OF ACTH STIMULATION TESTS, American journal of medical genetics, 76(4), 1998, pp. 337-342
HYPERANDROGENISM AND MANIFESTING HETEROZYGOTES FOR 21-HYDROXYLASE DEFICIENCY
Authors: WITCHEL SF LEE PA SUDAHARTMAN M HOFFMAN EP
Citation: Sf. Witchel et al., HYPERANDROGENISM AND MANIFESTING HETEROZYGOTES FOR 21-HYDROXYLASE DEFICIENCY, Biochemical and molecular medicine, 62(2), 1997, pp. 151-158
SPECTRUM OF MALIGNANCY AND PREMALIGNANCY IN CARNEY-SYNDROME
Authors: NWOKORO NA KORYTKOWSKI MT ROSE S GORIN MB STADLER MP WITCHEL SF MULVIHILL JJ
Citation: Na. Nwokoro et al., SPECTRUM OF MALIGNANCY AND PREMALIGNANCY IN CARNEY-SYNDROME, American journal of medical genetics, 73(4), 1997, pp. 369-377
DE-NOVO DUPLICATION XQ23-]XQ26 OF PATERNAL ORIGIN IN A GIRL WITH A MILDLY AFFECTED PHENOTYPE
Authors: GARCIAHERAS J MARTIN JA DAY DW SCACHERI P WITCHEL SF
Citation: J. Garciaheras et al., DE-NOVO DUPLICATION XQ23-]XQ26 OF PATERNAL ORIGIN IN A GIRL WITH A MILDLY AFFECTED PHENOTYPE, American journal of medical genetics, 70(4), 1997, pp. 404-408
NEWBORN SCREENING FOR 21-HYDROXYLASE DEFICIENCY - RESULTS OF CYP21 MOLECULAR-GENETIC ANALYSIS
Authors: WITCHEL SF NAYAK S SUDAHARTMAN M LEE PA
Citation: Sf. Witchel et al., NEWBORN SCREENING FOR 21-HYDROXYLASE DEFICIENCY - RESULTS OF CYP21 MOLECULAR-GENETIC ANALYSIS, The Journal of pediatrics, 131(2), 1997, pp. 328-331
DE-NOVO DER(X)T(X-10) (Q26-Q21) WITH FEATURES OF DISTAL TRISOMY 10Q -CASE-REPORT OF PATERNAL ORIGIN IDENTIFIED BY LATE REPLICATION WITH BRDU AND THE HUMAN ANDROGEN RECEPTOR ASSAY (HAR)
Authors: GARCIAHERAS J MARTIN JA WITCHEL SF SCACHERI P
Citation: J. Garciaheras et al., DE-NOVO DER(X)T(X-10) (Q26-Q21) WITH FEATURES OF DISTAL TRISOMY 10Q -CASE-REPORT OF PATERNAL ORIGIN IDENTIFIED BY LATE REPLICATION WITH BRDU AND THE HUMAN ANDROGEN RECEPTOR ASSAY (HAR), Journal of Medical Genetics, 34(3), 1997, pp. 242-245
EVIDENCE FOR A HETEROZYGOTE ADVANTAGE IN CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY
Authors: WITCHEL SF LEE PA SUDAHARTMAN M TRUCCO M HOFFMAN EP
Citation: Sf. Witchel et al., EVIDENCE FOR A HETEROZYGOTE ADVANTAGE IN CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, The Journal of clinical endocrinology and metabolism, 82(7), 1997, pp. 2097-2101
PHENOTYPIC HETEROGENEITY ASSOCIATED WITH THE SPLICING MUTATION IN CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY - RESPONSE
Authors: WITCHEL SF BHAMIDIPATI D HOFFMAN EP COHEN JB
Citation: Sf. Witchel et al., PHENOTYPIC HETEROGENEITY ASSOCIATED WITH THE SPLICING MUTATION IN CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY - RESPONSE, The Journal of clinical endocrinology and metabolism, 82(4), 1997, pp. 1304-1304
21-HYDROXYLASE HETEROZYGOTISM AND IMMUNE REGULATION - AUTHORS RESPONSE
Authors: WITCHEL SF LEE PA SUDAHARTMAN M TRUCCO M HOFFMAN EP
Citation: Sf. Witchel et al., 21-HYDROXYLASE HETEROZYGOTISM AND IMMUNE REGULATION - AUTHORS RESPONSE, The Journal of clinical endocrinology and metabolism, 82(12), 1997, pp. 4276-4276
CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE (21-OHASE) DEFICIENCY - PHENOTYPE GENOTYPE CORRELATIONS IN NEWBORN SCREENING/
Authors: NAYAK S WITCHEL SF HOFFMAN EP HARTMAN M LEE PA
Citation: S. Nayak et al., CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE (21-OHASE) DEFICIENCY - PHENOTYPE GENOTYPE CORRELATIONS IN NEWBORN SCREENING/, Pediatric research, 39(4), 1996, pp. 553-553
TREATMENT OF CENTRAL PRECOCIOUS PUBERTY - COMPARISON OF URINARY GONADOTROPIN EXCRETION AND GONADOTROPIN-RELEASING-HORMONE (GNRH) STIMULATION TESTS IN MONITORING GNRH ANALOG THERAPY
Authors: WITCHEL SF BAENSBAILON RG LEE PA
Citation: Sf. Witchel et al., TREATMENT OF CENTRAL PRECOCIOUS PUBERTY - COMPARISON OF URINARY GONADOTROPIN EXCRETION AND GONADOTROPIN-RELEASING-HORMONE (GNRH) STIMULATION TESTS IN MONITORING GNRH ANALOG THERAPY, The Journal of clinical endocrinology and metabolism, 81(4), 1996, pp. 1353-1356
PHENOTYPIC HETEROGENEITY ASSOCIATED WITH THE SPLICING MUTATION IN CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY
Authors: WITCHEL SF BHAMIDIPATI DK HOFFMAN EP COHEN JB
Citation: Sf. Witchel et al., PHENOTYPIC HETEROGENEITY ASSOCIATED WITH THE SPLICING MUTATION IN CONGENITAL ADRENAL-HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, The Journal of clinical endocrinology and metabolism, 81(11), 1996, pp. 4081-4088
MOLECULAR-GENETICS AND PATHOPHYSIOLOGY OF 17-BETA-HYDROXYSTEROID DEHYDROGENASE-3 DEFICIENCY
Authors: ANDERSSON S GEISSLER WM WU L DAVIS DL GRUMBACH MM NEW MJ SCHWARZ HP BLETHEN SL MENDONCA BB BLOISE W WITCHEL SF CUTLER GB GRIFFIN JE WILSON JD RUSSELL DW
Citation: S. Andersson et al., MOLECULAR-GENETICS AND PATHOPHYSIOLOGY OF 17-BETA-HYDROXYSTEROID DEHYDROGENASE-3 DEFICIENCY, The Journal of clinical endocrinology and metabolism, 81(1), 1996, pp. 130-136
Y-CHROMOSOMAL SEQUENCES IDENTIFIED IN GONADAL TISSUE OF 2 45,X PATIENTS WITH TURNER-SYNDROME
Authors: KOCOVA M WITCHEL SF NALESNIK M LEE PA DICKMAN PS MACGILLIVRAY MH REITER EO TRUCCO G TRUCCO M
Citation: M. Kocova et al., Y-CHROMOSOMAL SEQUENCES IDENTIFIED IN GONADAL TISSUE OF 2 45,X PATIENTS WITH TURNER-SYNDROME, Endocrine pathology, 6(4), 1995, pp. 311-322
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