17-Hydroxyprogesterone Levels and CYP21 Genotypes in Preterm Infants Neonatal Screening for Congenital Adrenal Hyperplasia:

[1]  Balsamo,et al.  CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia–Romagna region , 2000, Clinical endocrinology.

[2]  P. White,et al.  Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 2000, Endocrine reviews.

[3]  A. Nordenström,et al.  Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. , 1999, The Journal of clinical endocrinology and metabolism.

[4]  N. Dixit,et al.  Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia. , 1999, The Journal of clinical endocrinology and metabolism.

[5]  S. Berenbaum,et al.  Results of Screening 1.9 Million Texas Newborns for 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia , 1998, Pediatrics.

[6]  A. Nordenström,et al.  Benefits of Neonatal Screening for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) in Sweden , 1998, Pediatrics.

[7]  G. Wong,et al.  Pituitary-adrenal response in preterm very low birth weight infants after treatment with antenatal corticosteroids. , 1997, The Journal of clinical endocrinology and metabolism.

[8]  J. Partanen,et al.  Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population. , 1997, The Journal of clinical endocrinology and metabolism.

[9]  A. Farmer,et al.  Working together to reduce poverty's damage , 1997, BMJ.

[10]  R. Laessig,et al.  Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. , 1997, The Journal of pediatrics.

[11]  E. Cacciari,et al.  Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995. , 1996, Pediatrics.

[12]  U. Stenman,et al.  Serum Cortisol, Dehydroepiandrosterone Sulfate, and Steroid-Binding Globulins in Preterm Neonates: Effect of Gestational Age and Dexamethasone Therapy , 1996, Pediatric Research.

[13]  A. Wertz,et al.  Adrenocortical function in the very low birth weight infant: improved testing sensitivity and association with neonatal outcome. , 1996, The Journal of pediatrics.

[14]  C. Cronin,et al.  Screening for congenital adrenal hyperplasia: the Delfia Screening Test overestimates serum 17-hydroxyprogesterone in preterm infants. , 1996, Pediatrics.

[15]  P. Farrell,et al.  Newborn screening: principles and practice. , 1996, Advances in pediatrics.

[16]  M. New,et al.  Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. , 1995, The Journal of clinical endocrinology and metabolism.

[17]  W. Cutfield,et al.  Newborn screening for congenital adrenal hyperplasia in New Zealand. , 1995, The Journal of pediatrics.

[18]  A. Grüters,et al.  Improving the efficacy of newborn screening for congenital adrenal hyperplasia by adjusting the cut-off level of 17α-hydroxyprogesterone to gestational age , 1994 .

[19]  H. Luthman,et al.  Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. , 1994 .

[20]  S. Gross,et al.  Adrenal steroidogenesis in very low birth weight preterm infants. , 1994, The Journal of clinical endocrinology and metabolism.

[21]  Allen Db.  Newborn screening for congenital adrenal hyperplasia in Wisconsin. , 1993 .

[22]  J. Reynolds,et al.  Hypothalamic pituitary adrenal function in the extremely low birth weight infant. , 1993, The Journal of clinical endocrinology and metabolism.

[23]  G. Ellis,et al.  Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays. , 1992, Clinical chemistry.

[24]  H. Luthman,et al.  Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[25]  M. Tusié-Luna,et al.  Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 1992, The Journal of clinical investigation.

[26]  P. White,et al.  Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. , 1991, American journal of human genetics.

[27]  Y. Fujii‐Kuriyama,et al.  Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[28]  K. Fujieda,et al.  Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. , 1988, Pediatrics.

[29]  H. Versmold,et al.  Plasma Mineralocorticoids, Glucocorticoids, and Progestins in Premature Infants: Longitudinal Study during the First Week of Life , 1988, Pediatric Research.

[30]  L. Hagenfeldt,et al.  Neonatal screening for congenital adrenal hyperplasia using 17-hydroxyprogesterone assay in filter paper blood spots. , 1988, Hormone research.

[31]  G. Bodegård,et al.  Four‐Year Follow‐up of Psychological Reactions to False Positive Screening Tests for Congenital Hypothyroidism , 1987, Acta paediatrica Scandinavica.

[32]  M. New.  Basic and clinical aspects of congenital adrenal hyperplasia. , 1987, Journal of steroid biochemistry.

[33]  P. Gluckman,et al.  Steroid and Growth Hormone Levels in Premature Infants After Prenatal Betamethasone Therapy to Prevent Respiratory Distress Syndrome , 1980, Pediatric Research.

[34]  H. Versmold,et al.  Longitudinal studies of plasma aldosterone, corticosterone, deoxycorticosterone, progesterone, 17-hydroxyprogesterone, cortisol, and cortisone determined simultaneously in mother and child at birth and during the early neonatal period. I. Spontaneous delivery. , 1978, The Journal of clinical endocrinology and metabolism.

[35]  A. Drash,et al.  Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. , 1977, The Journal of clinical endocrinology and metabolism.