Medical College of Wisconsin
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Patricia A. Donohoue MD

Chief, Professor

Institution: Medical College of Wisconsin
Department: Pediatrics
Division: Endocrinology


  • Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female. (Donohoue PA, Tao YX, Collins M, Yeo GS, O'Rahilly S, Segaloff DL) J Clin Endocrinol Metab 2003 Dec;88(12):5841-5 PMID: 14671178
  • A meta-analytic investigation of linkage and association of common leptin receptor (LEPR) polymorphisms with body mass index and waist circumference. (Heo M, Leibel RL, Fontaine KR, Boyer BB, Chung WK, Koulu M, Karvonen MK, Pesonen U, Rissanen A, Laakso M, Uusitupa MI, Chagnon Y, Bouchard C, Donohoue PA, Burns TL, Shuldiner AR, Silver K, Andersen RE, Pedersen O, Echwald S, Sørensen TI, Behn P, Permutt MA, Jacobs KB, Elston RC, Hoffman DJ, Gropp E, Allison DB) Int J Obes Relat Metab Disord 2002 May;26(5):640-6 PMID: 12032747
  • Pooling analysis of genetic data: the association of leptin receptor (LEPR) polymorphisms with variables related to human adiposity. (Heo M, Leibel RL, Boyer BB, Chung WK, Koulu M, Karvonen MK, Pesonen U, Rissanen A, Laakso M, Uusitupa MI, Chagnon Y, Bouchard C, Donohoue PA, Burns TL, Shuldiner AR, Silver K, Andersen RE, Pedersen O, Echwald S, Sørensen TI, Behn P, Permutt MA, Jacobs KB, Elston RC, Hoffman DJ, Allison DB) Genetics 2001 Nov;159(3):1163-78 PMID: 11729160 PMCID: PMC1461868
  • Sympathetic inhibition, leptin, and uncoupling protein subtype expression in normal fasting rats. (Sivitz WI, Fink BD, Morgan DA, Fox JM, Donohoue PA, Haynes WG) Am J Physiol 1999 Oct;277(4 Pt 1):E668-77 PMID: 10516126
  • Fasting and leptin modulate adipose and muscle uncoupling protein: divergent effects between messenger ribonucleic acid and protein expression. (Sivitz WI, Fink BD, Donohoue PA) Endocrinology 1999 Apr;140(4):1511-9 PMID: 10098482
  • Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. (Reutens AT, Achermann JC, Ito M, Ito M, Gu WX, Habiby RL, Donohoue PA, Pang S, Hindmarsh PC, Jameson JL) J Clin Endocrinol Metab 1999 Feb;84(2):504-11 PMID: 10022408
  • E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (Kirby-Keyser L, Porter CC, Donohoue PA) Hum Mutat 1997;9(2):181-2 PMID: 9067760
  • Phenotypic evolution of classic 21-hydroxylase deficiency. (Hoffman WH, Shin MY, Donohoue PA, Helman SW, Brown SL, Rosculet G, Mahesh VB) Clin Endocrinol (Oxf) 1996 Jul;45(1):103-9 PMID: 8796146
  • Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. (Kyllo JH, Collins MM, Vetter KL, Cuttler L, Rosenfield RL, Donohoue PA) Am J Med Genet 1996 Mar 29;62(3):262-7 PMID: 8882784
  • Constitutive human steroid 21-hydroxylase promoter gene and pseudogene activity in steroidogenic and nonsteroidogenic cells with the luciferase gene as a reporter. (Kyllo JH, Collins MM, Donohoue PA) Endocr Res 1995 Nov;21(4):777-91 PMID: 8582328
  • The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region. (Donohoue PA, Guethlein L, Collins MM, Van Dop C, Migeon CJ, Bias WB, Schmeckpeper BJ) Tissue Antigens 1995 Sep;46(3 ( Pt 1)):163-72 PMID: 8525475
  • A new way to seal glass plates for denaturing gradient gel electrophoresis. (Kyllo JH, Kirby-Keyser L, Donohoue PA, Porter CC) Biotechniques 1994 May;16(5):792 PMID: 8068325
  • The human complement C4B/steroid 21-hydroxylase (CYP21) and complement C4A/21-hydroxylase pseudogene (CYP21P) intergenic sequences: comparison and identification of possible regulatory elements. (Donohoue PA, Collins MM) Biochem Biophys Res Commun 1992 Jul 15;186(1):256-62 PMID: 1385946
  • Pituitary gigantism caused by growth hormone excess from infancy. (Gelber SJ, Heffez DS, Donohoue PA) J Pediatr 1992 Jun;120(6):931-4 PMID: 1593354
  • Accelerated growth rates in children treated with growth hormone after renal transplantation. (Van Dop C, Jabs KL, Donohoue PA, Bock GH, Fivush BA, Harmon WE) J Pediatr 1992 Feb;120(2 Pt 1):244-50 PMID: 1735820
  • Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Its molecular basis and its remaining therapeutic problems. (Migeon CJ, Donohoue PA) Endocrinol Metab Clin North Am 1991 Jun;20(2):277-96 PMID: 1879400
  • Glucose tolerance in children with renal allografts and effect of growth hormone treatment. (Van Dop C, Donohoue PA, Jabs KL, Bock GH, Fivush BA, Harmon WE) J Pediatr 1991 May;118(5):708-14 PMID: 2019924
  • Exon 7 Ncol restriction site within CYP21B (steroid 21-hydroxylase) is a normal polymorphism. (Donohoue PA, Sandrini Neto R, Collins MM, Migeon CJ) Mol Endocrinol 1990 Sep;4(9):1354-62 PMID: 1978247
  • Endocrine evaluation of adults with mild hypospadias. (Gearhart JP, Donohoue PA, Brown TR, Walsh PC, Berkovitz GD) J Urol 1990 Aug;144(2 Pt 1):274-7 PMID: 2115596
  • Enhanced growth with growth hormone therapy after renal transplantation. (Van Dop C, Donohoue PA, Bock GH, Ruley J) Pediatr Nephrol 1989 Oct;3(4):468-9 PMID: 2642119
  • Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B. (Donohoue PA, Jospe N, Migeon CJ, Van Dop C) Genomics 1989 Oct;5(3):397-406 PMID: 2613228
  • Serum 3 alpha-androstanediol glucuronide measurements in sexually mature women with congenital adrenal hyperplasia during therapy. (Reiner BJ, Donohoue PA, Migeon CJ, Berkovitz GD) J Clin Endocrinol Metab 1989 Jul;69(1):105-9 PMID: 2732292
  • Restriction fragment analysis of duplication of the fourth component of complement (C4A). (McLean RH, Donohoue PA, Jospe N, Bias WB, Van Dop C, Migeon CJ) Genomics 1988 Jan;2(1):76-85 PMID: 2838414
  • Coupling of HLA-A3,Cw6,Bw47,DR7 and a normal CA21HB steroid 21-hydroxylase gene in the Old Order Amish. (Donohoue PA, Van Dop C, Migeon CJ, McLean RH, Bias WB) J Clin Endocrinol Metab 1987 Nov;65(5):980-6 PMID: 2822757
  • Prevalence of polymorphic 21-hydroxylase gene (CA21HB) mutations in salt-losing congenital adrenal hyperplasia. (Jospe N, Donohoue PA, Van Dop C, McLean RH, Bias WB, Migeon CJ) Biochem Biophys Res Commun 1987 Feb 13;142(3):798-804 PMID: 3030300
  • Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein. (Donohoue PA, van Dop C, McLean RH, White PC, Jospe N, Migeon CJ) J Clin Endocrinol Metab 1986 May;62(5):995-1002 PMID: 3007562
  • Restriction maps and restriction fragment length polymorphisms of the human 21-hydroxylase genes. (Donohoue PA, Jospe N, Migeon CJ, McLean RH, Bias WB, White PC, Van Dop C) Biochem Biophys Res Commun 1986 Apr 29;136(2):722-9 PMID: 3010994
  • Congenital adrenal hyperplasia: molecular mechanisms resulting in 21-hydroxylase deficiency. (Donohoue PA, Van Dop C, Jospe N, Migeon CJ) Acta Endocrinol Suppl (Copenh) 1986;279:315-20 PMID: 3022524
  • Last update: 09/13/2010