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Journal Abstract Search

137 related items for PubMed ID: 25731006

  • 1. Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: case report.
    Durković J, Milenković T, Krone N, Parajes S, Mandić B.
    Srp Arh Celok Lek; 2014; 142(11-12):728-31. PubMed ID: 25731006
    [Abstract] [Full Text] [Related]

  • 2. Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene.
    Weintrob N, Drouin J, Vallette-Kasic S, Taub E, Marom D, Lebenthal Y, Klinger G, Bron-Harlev E, Shohat M.
    Pediatrics; 2006 Feb; 117(2):e322-7. PubMed ID: 16390921
    [Abstract] [Full Text] [Related]

  • 3. A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita.
    Khattab A, Nelson-Williams C, Cabreza V, Macdonald A, Loring E, Saland J, New MI.
    Ann N Y Acad Sci; 2018 Dec; 1433(1):7-11. PubMed ID: 30129976
    [Abstract] [Full Text] [Related]

  • 4. A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia.
    Rojek A, Flader M, Malecka E, Niedziela M.
    Hormones (Athens); 2014 Dec; 13(3):413-9. PubMed ID: 25079468
    [Abstract] [Full Text] [Related]

  • 5. Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report.
    Iughetti L, Lucaccioni L, Bruzzi P, Ciancia S, Bigi E, Madeo SF, Predieri B, Roucher-Boulez F.
    BMC Med Genet; 2019 Jun 04; 20(1):98. PubMed ID: 31164167
    [Abstract] [Full Text] [Related]

  • 6. Adrenal hypoplasia congenita - an uncommon reason of primary adrenal insufficiency.
    Fichna M, Zurawek M, Gut P, Sowiński J, Nowak J.
    Ann Endocrinol (Paris); 2010 Sep 04; 71(4):309-13. PubMed ID: 20542258
    [Abstract] [Full Text] [Related]

  • 7. Primary adrenal insufficiency caused by a novel mutation in DAX1 gene.
    Evliyaoğlu O, Dokurel İ, Bucak F, Özcabı B, Ercan Ö, Ceylaner S.
    J Clin Res Pediatr Endocrinol; 2013 Sep 04; 5(1):55-7. PubMed ID: 23367499
    [Abstract] [Full Text] [Related]

  • 8. Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene.
    Esden-Tempska Z, Lewczuk A, Tobias ES, Borozdin W, Kohlhase J, Sworczak K.
    J Pediatr Endocrinol Metab; 2012 Sep 04; 25(1-2):147-8. PubMed ID: 22570964
    [Abstract] [Full Text] [Related]

  • 9. A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita.
    Gerster K, Katschnig C, Wyss S, Kolly A, Sproll P, Biason-Lauber A, Konrad D.
    J Pediatr Endocrinol Metab; 2017 Nov 27; 30(12):1321-1325. PubMed ID: 29087957
    [Abstract] [Full Text] [Related]

  • 10. Prenatal diagnosis of congenital adrenal hypoplasia.
    Peter M, Partsch CJ, Dörr HG, Sippell WG.
    Horm Res; 1996 Jul 27; 46(1):41-5. PubMed ID: 8854139
    [Abstract] [Full Text] [Related]

  • 11. A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Battistin C, Menezes Filho HC, Domenice S, Nishi MY, Della Manna T, Kuperman H, Steinmetz L, Dichtchekenian V, Setian N, Damiani D.
    Arq Bras Endocrinol Metabol; 2012 Nov 27; 56(8):496-500. PubMed ID: 23295288
    [Abstract] [Full Text] [Related]

  • 12. Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation.
    Darcan S, Goksen D, Ozen S, Ozkinay F, Durmaz B, Lalli E.
    Horm Res Paediatr; 2011 Feb 27; 75(2):153-6. PubMed ID: 20975255
    [Abstract] [Full Text] [Related]

  • 13. Importance of genetic diagnosis of DAX-1 deficiency: example from a large, multigenerational family.
    Ostermann S, Salvi R, Lang-Muritano M, Voirol MJ, Puttinger R, Gaillard RC, Schoenle E, Pralong FP.
    Horm Res; 2006 Feb 27; 65(4):163-8. PubMed ID: 16514244
    [Abstract] [Full Text] [Related]

  • 14. Obstetrical complications associated with abnormal maternal serum markers analytes.
    Gagnon A, Wilson RD, SOCIETY OF OBSTETRICIANS AND GYNAECOLOGISTS OF CANADA GENETICS COMMITTEE.
    J Obstet Gynaecol Can; 2008 Oct 27; 30(10):918-932. PubMed ID: 19038077
    [Abstract] [Full Text] [Related]

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  • 16. Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay.
    Malpuech G, Vanlieferinghen P, Dechelotte P, Gaulme J, Labbé A, Guiot F.
    Am J Med Genet; 1988 Jan 27; 29(1):125-30. PubMed ID: 2830787
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  • 18. [Clinical features of 9 patients with X-linked adrenal hypoplasia congenita caused by DAX1/NR0B1 gene mutations].
    Fu Y, Nie M, Xia WB, Lu L, Mao JF, Pan H, Wu XY, Zhao WG.
    Zhonghua Yi Xue Za Zhi; 2010 Aug 10; 90(30):2119-22. PubMed ID: 21029627
    [Abstract] [Full Text] [Related]

  • 19. Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing.
    Jean A, Mansukhani M, Oberfield SE, Fennoy I, Nakamoto J, Atwan M, Lerer I, Neriah ZB, Zangen DH, Chung WK.
    Prenat Diagn; 2008 Jan 10; 28(1):11-4. PubMed ID: 18058976
    [Abstract] [Full Text] [Related]

  • 20. Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers.
    Balikcioglu PG, Gómez R, Vargas A, Aradhya S, Messiaen LM, Lacassie Y.
    Am J Med Genet A; 2013 Aug 10; 161A(8):2105-7. PubMed ID: 23824603
    [No Abstract] [Full Text] [Related]

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