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167 related items for PubMed ID: 32894409

  • 1. Genetic spectrum and predictors of mutations in four known genes in Asian Indian patients with growth hormone deficiency and orthotopic posterior pituitary: an emphasis on regional genetic diversity.
    Kale S, Gada JV, Jadhav S, Lila AR, Sarathi V, Budyal S, Patt H, Goroshi MR, Thadani PM, Arya S, Kamble AA, Patil VA, Acharya S, Sankhe S, Shivane V, Raghavan V, Bandgar TR, Shah NS.
    Pituitary; 2020 Dec; 23(6):701-715. PubMed ID: 32894409
    [Abstract] [Full Text] [Related]

  • 2. Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency.
    Birla S, Khadgawat R, Jyotsna VP, Jain V, Garg MK, Bhalla AS, Sharma A.
    Growth Horm IGF Res; 2016 Aug; 29():50-56. PubMed ID: 27114065
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  • 3. Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea.
    Choi JH, Jung CW, Kang E, Kim YM, Heo SH, Lee BH, Kim GH, Yoo HW.
    Yonsei Med J; 2017 May; 58(3):527-532. PubMed ID: 28332357
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  • 4. Pituitary stalk interruption syndrome: phenotype, predictors, and pathophysiology of perinatal events.
    Diwaker C, Thadani P, Memon SS, Sarathi V, Lila AR, Arya S, Krishnappa B, Karlekar M, Patil VA, Shah N, Bandgar T.
    Pituitary; 2022 Aug; 25(4):645-652. PubMed ID: 35749012
    [Abstract] [Full Text] [Related]

  • 5. Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement.
    Rohayem J, Drechsel H, Tittel B, Hahn G, Pfaeffle R, Huebner A.
    Horm Res Paediatr; 2016 Aug; 86(2):106-116. PubMed ID: 27487097
    [Abstract] [Full Text] [Related]

  • 6. Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency.
    Birla S, Khadgawat R, Jyotsna VP, Jain V, Garg MK, Bhalla AS, Sharma A.
    Horm Metab Res; 2016 Dec; 48(12):822-827. PubMed ID: 27756091
    [Abstract] [Full Text] [Related]

  • 7. Molecular genetic studies in isolated growth hormone deficiency (IGHD).
    Desai MP, Mithbawkar SM, Upadhye PS, Rao SC, Bhatia V, Vijaykumar M.
    Indian J Pediatr; 2013 Aug; 80(8):623-30. PubMed ID: 23436191
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  • 8. Pathogenic and likely pathogenic genetic alterations and polymorphisms in growth hormone gene (GH1) and growth hormone releasing hormone receptor gene (GHRHR) in a cohort of isolated growth hormone deficient (IGHD) children in Sri Lanka.
    Sundralingam T, Tennekoon KH, de Silva S, De Silva S, Hewage AS.
    Growth Horm IGF Res; 2017 Oct; 36():22-29. PubMed ID: 28910730
    [Abstract] [Full Text] [Related]

  • 9. Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.
    Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, Banerjee K, Sinha SK, Ten S, Mushtaq T, Brauner R, Cheetham TD, Hindmarsh PC, Mullis PE, Dattani MT.
    J Clin Endocrinol Metab; 2009 Sep; 94(9):3191-9. PubMed ID: 19567534
    [Abstract] [Full Text] [Related]

  • 10. DNA testing in patients with GH deficiency at the time of transition.
    Dattani MT.
    Growth Horm IGF Res; 2003 Aug; 13 Suppl A():S122-9. PubMed ID: 12914740
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  • 14. A novel gross indel in the growth hormone releasing hormone receptor gene of Indian IGHD patients.
    Kale S, Budyal S, Kasaliwal R, Shivane V, Raghavan V, Lila A, Bandgar T, Shah N.
    Growth Horm IGF Res; 2014 Dec; 24(6):227-32. PubMed ID: 25153028
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  • 15. Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).
    Turton JP, Mehta A, Raza J, Woods KS, Tiulpakov A, Cassar J, Chong K, Thomas PQ, Eunice M, Ammini AC, Bouloux PM, Starzyk J, Hindmarsh PC, Dattani MT.
    Clin Endocrinol (Oxf); 2005 Jul; 63(1):10-8. PubMed ID: 15963055
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  • 16. Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.
    Fritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M, Chraibi A, Amselem S, Kadiri A, Hilal L.
    Clin Endocrinol (Oxf); 2015 Jun; 82(6):876-84. PubMed ID: 25557026
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  • 17. Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
    de Graaff LC, Argente J, Veenma DC, Herrebout MA, Friesema EC, Uitterlinden AG, Drent ML, Campos-Barros A, Hokken-Koelega AC.
    Clin Endocrinol (Oxf); 2009 May; 70(5):742-50. PubMed ID: 18785993
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  • 19. POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature.
    Jadhav S, Diwaker C, Lila AR, Gada JV, Kale S, Sarathi V, Thadani PM, Arya S, Patil VA, Shah NS, Bandgar TR.
    Pituitary; 2021 Oct; 24(5):657-669. PubMed ID: 33742319
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