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Journal Abstract Search

244 related items for PubMed ID: 15751602

  • 21. Prenatal fetal adrenal suppression following in utero diagnosis of congenital adrenal hyperplasia.
    Shapiro E, Santiago JV, Crane JP.
    J Urol; 1989 Aug; 142(2 Pt 2):663-6; discussion 667-8. PubMed ID: 2746796
    [Abstract] [Full Text] [Related]

  • 22. Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification.
    Theodoropoulou M, Barta C, Szoke M, Guttman A, Staub M, Niederland T, Sólyom J, Fekete G, Sasvari-Szekely M.
    Fetal Diagn Ther; 2001 Aug; 16(4):237-40. PubMed ID: 11399887
    [Abstract] [Full Text] [Related]

  • 23. Prenatal diagnosis and successful intrauterine treatment of a female fetus with 21-hydroxylase deficiency.
    Haan EA, Serjeantson SW, Norman R, Rollond AK, Antonis P, Richards RI, Penfold JL.
    Med J Aust; 1992 Jan 20; 156(2):132-5. PubMed ID: 1736054
    [Abstract] [Full Text] [Related]

  • 24. Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
    Nimkarn S, New MI.
    Nat Clin Pract Endocrinol Metab; 2007 May 20; 3(5):405-13. PubMed ID: 17452967
    [Abstract] [Full Text] [Related]

  • 25. Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.
    Wang X, Nie M, Lu L, Tong A, Chen S, Lu Z.
    Steroids; 2015 Aug 20; 100():11-6. PubMed ID: 25911436
    [Abstract] [Full Text] [Related]

  • 26. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations.
    Gu C, Tan H, Yang J, Lu Y, Ma Y.
    Gene; 2017 Aug 30; 626():89-94. PubMed ID: 28514642
    [Abstract] [Full Text] [Related]

  • 27. Familial pericentric inversion chromosome 3 and R448C mutation of CYP11B1 gene in Turkish kindred with 11beta-hydroxylase deficiency.
    Cingöz S, Ozkan B, Döneray H, Sakizli M.
    J Endocrinol Invest; 2007 Apr 30; 30(4):285-91. PubMed ID: 17556864
    [Abstract] [Full Text] [Related]

  • 28. Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia.
    Nimkarn S, New MI.
    Trends Endocrinol Metab; 2008 Apr 30; 19(3):96-9. PubMed ID: 18294861
    [Abstract] [Full Text] [Related]

  • 29. Diagnosis, treatment and genetic analysis of 11β -hydroxylase deficiency caused by CYP11B gene mutation.
    Song QQ, Zhang SS, Zhang Z, Sun J, Yang R, Li JT, Chen H.
    Yi Chuan; 2022 Dec 20; 44(12):1175-1182. PubMed ID: 36927563
    [Abstract] [Full Text] [Related]

  • 30. Successful prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Wudy SA, Homoki J, Teller WM.
    Eur J Pediatr; 1994 Aug 20; 153(8):556-9. PubMed ID: 7957400
    [Abstract] [Full Text] [Related]

  • 31. Antenatal treatment of a mother bearing a fetus with congenital adrenal hyperplasia.
    Brook CG.
    Arch Dis Child Fetal Neonatal Ed; 2000 May 20; 82(3):F176-81. PubMed ID: 10794782
    [No Abstract] [Full Text] [Related]

  • 32. New developments in prenatal diagnosis of congenital adrenal hyperplasia.
    Kazmi D, Bailey J, Yau M, Abu-Amer W, Kumar A, Low M, Yuen T.
    J Steroid Biochem Mol Biol; 2017 Jan 20; 165(Pt A):121-123. PubMed ID: 27378492
    [Abstract] [Full Text] [Related]

  • 33. Prenatal treatment of congenital adrenal hyperplasia. The United States experience.
    New MI.
    Endocrinol Metab Clin North Am; 2001 Mar 20; 30(1):1-13. PubMed ID: 11344929
    [Abstract] [Full Text] [Related]

  • 34. Insights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families.
    Valadares LP, Pfeilsticker ACV, de Brito Sousa SM, Cardoso SC, de Moraes OL, Gonçalves de Castro LC, de Oliveira RS, Lofrano-Porto A.
    Endocrine; 2018 Nov 20; 62(2):326-332. PubMed ID: 30242600
    [Abstract] [Full Text] [Related]

  • 35. Cosegregation of a novel homozygous CYP11B1 mutation with the phenotype of non-classical congenital adrenal hyperplasia in a consanguineous family.
    Peters CJ, Nugent T, Perry LA, Davies K, Morel Y, Drake WM, Savage MO, Johnston LB.
    Horm Res; 2007 Nov 20; 67(4):189-93. PubMed ID: 17124386
    [Abstract] [Full Text] [Related]

  • 36. Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiency.
    Nguyen HH, Nguyen TH, Vu CD, Nguyen KT, Le BV, Nguyen TL, Nong VH.
    Gene; 2012 Nov 10; 509(2):295-7. PubMed ID: 22921894
    [Abstract] [Full Text] [Related]

  • 37. Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature.
    Breil T, Yakovenko V, Inta I, Choukair D, Klose D, Mittnacht J, Schulze E, Alrajab A, Grulich-Henn J, Bettendorf M.
    J Pediatr Endocrinol Metab; 2019 Mar 26; 32(3):259-267. PubMed ID: 30817301
    [Abstract] [Full Text] [Related]

  • 38. A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11beta-hydroxylase form of congenital adrenal hyperplasia.
    Kuribayashi I, Massa G, van den Tooren-de Groot HK, Oostdijk W, Wit JM, Shizuta Y.
    Endocr Res; 2003 Nov 26; 29(4):377-81. PubMed ID: 14682466
    [Abstract] [Full Text] [Related]

  • 39. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
    Khattab A, Haider S, Kumar A, Dhawan S, Alam D, Romero R, Burns J, Li D, Estatico J, Rahi S, Fatima S, Alzahrani A, Hafez M, Musa N, Razzghy Azar M, Khaloul N, Gribaa M, Saad A, Charfeddine IB, Bilharinho de Mendonça B, Belgorosky A, Dumic K, Dumic M, Aisenberg J, Kandemir N, Alikasifoglu A, Ozon A, Gonc N, Cheng T, Kuhnle-Krahl U, Cappa M, Holterhus PM, Nour MA, Pacaud D, Holtzman A, Li S, Zaidi M, Yuen T, New MI.
    Proc Natl Acad Sci U S A; 2017 Mar 07; 114(10):E1933-E1940. PubMed ID: 28228528
    [Abstract] [Full Text] [Related]

  • 40. The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency.
    Long Y, Han S, Zhang X, Zhang X, Chen T, Gao Y, Tian H.
    Endocr J; 2016 Mar 07; 63(3):301-10. PubMed ID: 26806323
    [Abstract] [Full Text] [Related]

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