Search Results - "New, M. I."

Steroid 21-hydroxylase deficiency: genotype may not predict phenotype by Wilson, R C, Mercado, A B, Cheng, K C, New, M I

“…Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia. We have determined the 21-hydroxylase genotype in 197 patients…”
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Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies by NEW, Maria I, CARLSON, Ann, OBEID, Jihad, MARSHALL, Ian, CABRERA, Monina S, GOSECO, Amanda, LIN-SU, Karen, PUTNAM, Andrea S, QING WEI, J, WILSON, Robert C

“…Congenital adrenal hyperplasia (CAH) refers to a family of monogenic inherited disorders of adrenal steroidogenesis most often caused by enzyme 21-hydroxylase…”
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A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess by Wilson, R C, Krozowski, Z S, Li, K, Obeyesekere, V R, Razzaghy-Azar, M, Harbison, M D, Wei, J Q, Shackleton, C H, Funder, J W, New, M I

“…A mutation in the HSD11B2 gene has been discovered in a consanguineous Iranian family with three sibs suffering from Apparent Mineralocorticoid Excess (AME)…”
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The human gene for 11 beta-hydroxysteroid dehydrogenase. Structure, tissue distribution, and chromosomal localization by TANNIN, G. M, AGARWAL, A. K, MONDER, C, NEW, M. I, WHITE, P. C

“…The Type I (mineralocorticoid) receptor has identical affinities in vitro for cortisol and aldosterone. It has been suggested that the selective role of…”
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A Novel Semiquantitative Polymerase Chain Reaction/Enzyme Digestion-Based Method for Detection of Large Scale Deletions/Conversions of the CYP21 Gene and Mutation Screening in Turkish Families with 21-Hydroxylase Deficiency by Tukel, T., Uyguner, O., Wei, J. Q., Yuksel-Apak, M., Saka, N., Song, D. X., Kayserili, H., Bas, F., Gunoz, H., Wilson, R. C., New, M. I., Wollnik, B.

“…21-Hydroxylase deficiency is a recessively inherited disorder resulting from mutations in the CYP21 gene. The CYP21 gene is located along with the CYP21P…”
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Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment by Carlson, A.D, Obeid, J.S, Kanellopoulou, N, Wilson, R.C, New, M.I

“…The diagnostic term congenital adrenal hyperplasia (CAH) applies to a family of inherited disorders of steroidogenesis caused by an abnormality in one of the…”
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Mutations in the CYP11B1 Gene Causing Congenital Adrenal Hyperplasia and Hypertension Cluster in Exons 6, 7, and 8 by Curnow, Kathleen M., Slutsker, Liliya, Vitek, Jiri, Cole, Trevor, Speiser, Phyllis W., New, Maria I., White, Perrin C., Pascoe, Leigh

“…Steroid 11β-hydroxylase deficiency (failure to convert 11-deoxycortisol to cortisol) is the second most common cause of congenital adrenal hyperplasia and…”
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Cognitive outcome of offspring from dexamethasone-treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Meyer-Bahlburg, Heino F L, Dolezal, Curtis, Haggerty, Rita, Silverman, Michael, New, Maria I

“…ObjectivesTo test whether dexamethasone (DEX) treatment in pregnancies at risk for congenital adrenal hyperplasia (CAH) impairs cognitive functioning in the…”
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Congenital Hypopituitarism as a Cause of Undetectable Estriol Levels in the Maternal Triple-Marker Screen by Marshall, I., Ugrasbul, F., Manginello, F., Wajnrajch, M. P., Shackleton, C. H. L., New, M. I., Vogiatzi, M. V.

“…We are reporting a child with congenital panhypopituitarism, in whom deficient fetal steroidogenesis was suspected prenatally because of undetectable estriol…”
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Structure of Human Steroid 21-hydroxylase Genes by White, Perrin C., New, Maria I., Dupont, Bo

“…We have determined the structure of cDNA and two genomic genes encoding steroid 21-hydroxylase [21-OHase; steroid 21-monooxygenase; steroid,…”
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Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Speiser, P W, Dupont, J, Zhu, D, Serrat, J, Buegeleisen, M, Tusie-Luna, M T, Lesser, M, New, M I, White, P C

“…Genotyping for 10 mutations in the CYP21 gene was performed in 88 families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Southern blot…”
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Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency by Mercado, A B, Wilson, R C, Cheng, K C, Wei, J Q, New, M I

“…Since 1986, prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OHD) have been carried out in 239…”
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DIAGNOSIS AND MANAGEMENT OF CONGENITAL ADRENAL HYPERPLASIA by New, MD, Maria I

“…Congenital adrenal hyperplasia is a family of inborn errors of steroidogenesis, each characterized by a specific enzyme deficiency that impairs cortisol…”
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Prenatal treatment of congenital adrenal hyperplasia. The United States experience by New, M I

“…Based on the author's experience, prenatal diagnosis and treatment of 21-hydroxylase deficiency is safe and effective in significantly reducing or eliminating…”
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Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism by LITCHFIELD, W. R, NEW, M. I, COOLIDGE, C, LIFTON, R. P, DLUHY, R. G

“…Glucocorticoid-remediable aldosteronism (GRA) is a rare form of inherited hypertension caused by a characteristic gene duplication. With the advent of…”
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Characterization of Frequent Deletions Causing Steroid 21-hydroxylase Deficiency by White, Perrin C., Vitek, Alena, Dupont, Bo, New, Maria I.

“…Steroid 21-hydroxylase deficiency is caused by mutations in the CYP21B gene. This gene and a highly homologous pseudogene, CYP21A, alternate with the C4A and…”
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Effects of early prenatal dexamethasone on the cognitive and behavioral development of young children: Results of a pilot study by Trautman, Paul D., Meyer-Bahlburg, Heino F.L., Postelnek, Jill, New, Maria I.

“…The effect of early prenatal dexamethasone (DEX) exposure on cognitive and behavioral development, behavior problems, and temperament were examined in 26…”
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Mutation in the CYP21B Gene (Ile-172→ Asn) Causes Steroid 21-hydroxylase Deficiency by Amor, Mounira, Parker, Keith L., Globerman, Hadas, New, Maria I., White, Perrin C.

“…Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. It results from a deficiency in a specific cytochrome P450,…”
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Normocortisolemic Cushing's syndrome initially presenting with increased glucocorticoid receptor numbers by NEWFIELD, R. S, KALAITZOGLOU, G, LICHOLAI, T, CHILTON, D, ASHRAF, J, THOMPSON, E. B, NEW, M. I

“…A girl who developed Cushingoid features in peripuberty, but was eucortisolemic, was previously reported to have markedly elevated lymphocyte glucocorticoid…”
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Glucocorticoid-Suppressible Hyperaldosteronism Results from Hybrid Genes Created by Unequal Crossovers between CYP11B1 and CYP11B2 by Pascoe, Leigh, Curnow, Kathleen M., Slutsker, Liliya, John M. C. Connell, Speiser, Phyllis W., New, Maria I., White, Perrin C.

“…Glucocorticoid-suppressible hyperaldosteronism (GSH) is an autosomal dominant form of familial hypertension. The biochemical abnormalities seen in this…”
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