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    Results: 1 to 20 of 40

    1.

    Solution structure of the LIM-homeodomain transcription factor complex Lhx3/Ldb1 and the effects of a pituitary mutation on key Lhx3 interactions.

    Bhati M, Lee C, Gadd MS, Jeffries CM, Kwan A, Whitten AE, Trewhella J, Mackay JP, Matthews JM.

    PLoS One. 2012;7(7):e40719. doi: 10.1371/journal.pone.0040719. Epub 2012 Jul 25.

    PMID:
    22848397
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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    2.

    Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report.

    Lamine F, Kanoun F, Chihaoui M, Saveanu A, Menif E, Barlier A, Enjalbert A, Brue T, Slimane H.

    Pituitary. 2012 Dec;15 Suppl 1:S81-6. doi: 10.1007/s11102-012-0411-y.

    PMID:
    22797803
    [PubMed - indexed for MEDLINE]

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    3.

    Brain development is a multi-level regulated process--the case of the OTX2 gene.

    Gat-Yablonski G.

    Pediatr Endocrinol Rev. 2011 Sep;9(1):422-30. Review.

    PMID:
    22783640
    [PubMed - indexed for MEDLINE]

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    4.

    Functional SNPs within the intron 1 of the PROP1 gene contribute to combined growth hormone deficiency (CPHD).

    Godi M, Mellone S, Tiradani L, Marabese R, Bardelli C, Salerno M, Prodam F, Bellone S, Petri A, Momigliano-Richiardi P, Bona G, Giordano M.

    J Clin Endocrinol Metab. 2012 Sep;97(9):E1791-7. doi: 10.1210/jc.2012-1527. Epub 2012 Jun 28.

    PMID:
    22745233
    [PubMed - indexed for MEDLINE]

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    5.

    A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.

    Gorbenko Del Blanco D, Romero CJ, Diaczok D, de Graaff LC, Radovick S, Hokken-Koelega AC.

    Eur J Endocrinol. 2012 Sep;167(3):441-52. doi: 10.1530/EJE-12-0333. Epub 2012 Jun 19.

    PMID:
    22715480
    [PubMed - indexed for MEDLINE]

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    6.

    Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.

    Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N.

    J Clin Endocrinol Metab. 2012 Apr;97(4):E694-9. doi: 10.1210/jc.2011-2938. Epub 2012 Feb 8.

    PMID:
    22319038
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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    7.

    A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency.

    Bechtold-Dalla Pozza S, Hiedl S, Roeb J, Lohse P, Malik RE, Park S, Durán-Prado M, Rhodes SJ.

    Horm Res Paediatr. 2012;77(1):41-51. doi: 10.1159/000335929. Epub 2012 Jan 26.

    PMID:
    22286346
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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    8.

    Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.

    Sobrier ML, Brachet C, Vié-Luton MP, Perez C, Copin B, Legendre M, Heinrichs C, Amselem S.

    J Clin Endocrinol Metab. 2012 Mar;97(3):E503-9. doi: 10.1210/jc.2011-2095. Epub 2012 Jan 11.

    PMID:
    22238406
    [PubMed - indexed for MEDLINE]
    Free Article

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    9.

    Panhypopituitarism presenting as life-threatening heart failure caused by an inherited microdeletion in 1q25 including LHX4.

    Filges I, Bischof-Renner A, Röthlisberger B, Potthoff C, Glanzmann R, Günthard J, Schneider J, Huber AR, Zumsteg U, Miny P, Szinnai G.

    Pediatrics. 2012 Feb;129(2):e529-34. doi: 10.1542/peds.2010-3849. Epub 2012 Jan 9.

    PMID:
    22232309
    [PubMed - indexed for MEDLINE]
    Free Article

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    10.

    A distal modular enhancer complex acts to control pituitary- and nervous system-specific expression of the LHX3 regulatory gene.

    Mullen RD, Park S, Rhodes SJ.

    Mol Endocrinol. 2012 Feb;26(2):308-19. doi: 10.1210/me.2011-1252. Epub 2011 Dec 22.

    PMID:
    22194342
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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    11.

    Genetic disorders of the pituitary.

    Cohen LE.

    Curr Opin Endocrinol Diabetes Obes. 2012 Feb;19(1):33-9. doi: 10.1097/MED.0b013e32834ed639. Review.

    PMID:
    22157402
    [PubMed - indexed for MEDLINE]

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    12.

    Recombinant human growth hormone replacement in a Japanese man with a novel PROP1 gene mutation (R112X).

    Ogo A, Maruta T, Ide C, Sakai Y, Matoba Y, Hiramatsu S, Usui T, Naruse M, Shimatsu A.

    Fukuoka Igaku Zasshi. 2011 Sep;102(9):277-83.

    PMID:
    22111336
    [PubMed - indexed for MEDLINE]

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    13.

    Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects.

    Obermannova B, Pfaeffle R, Zygmunt-Gorska A, Starzyk J, Verkauskiene R, Smetanina N, Bezlepkina O, Peterkova V, Frisch H, Cinek O, Child CJ, Blum WF, Lebl J.

    Horm Res Paediatr. 2011;76(5):348-54. doi: 10.1159/000332693. Epub 2011 Oct 18.

    PMID:
    22024773
    [PubMed - indexed for MEDLINE]

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    14.

    Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.

    Turton JP, Strom M, Langham S, Dattani MT, Le Tissier P.

    Clin Endocrinol (Oxf). 2012 Mar;76(3):387-93. doi: 10.1111/j.1365-2265.2011.04236.x.

    PMID:
    22010633
    [PubMed - indexed for MEDLINE]

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    15.

    X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family.

    Wang CL, Liang L, Shen Z, Zou CC, Fu JF, Dong GP.

    Genomics. 2011 Dec;98(6):440-4. doi: 10.1016/j.ygeno.2011.09.002. Epub 2011 Oct 6.

    PMID:
    22001696
    [PubMed - indexed for MEDLINE]

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    16.

    Case seminar: a young female with acute hyponatremia and a sellar mass.

    Pekic S, Doknic M, Miljic D, Saveanu A, Reynaud R, Barlier A, Brue T, Popovic V.

    Endocrine. 2011 Dec;40(3):325-31. doi: 10.1007/s12020-011-9516-8. Epub 2011 Aug 24.

    PMID:
    21863341
    [PubMed - indexed for MEDLINE]

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    17.

    The role of homeodomain transcription factors in heritable pituitary disease.

    Prince KL, Walvoord EC, Rhodes SJ.

    Nat Rev Endocrinol. 2011 Jul 26;7(12):727-37. doi: 10.1038/nrendo.2011.119. Review.

    PMID:
    21788968
    [PubMed - indexed for MEDLINE]

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    18.

    Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency.

    Inoue H, Mukai T, Sakamoto Y, Kimura C, Kangawa N, Itakura M, Ogata T, Ito Y, Fujieda K; Japan Growth Genome Consortium.

    Clin Endocrinol (Oxf). 2012 Jan;76(1):78-87. doi: 10.1111/j.1365-2265.2011.04165.x.

    PMID:
    21722153
    [PubMed - indexed for MEDLINE]

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    19.

    Ectopic posterior pituitary and stalk abnormality predicts severity and coexisting hormone deficiencies in patients with congenital growth hormone deficiency.

    Jagtap VS, Acharya SV, Sarathi V, Lila AR, Budyal SR, Kasaliwal R, Sankhe SS, Bandgar TR, Menon PS, Shah NS.

    Pituitary. 2012 Jun;15(2):243-50. doi: 10.1007/s11102-011-0321-4.

    PMID:
    21667124
    [PubMed - indexed for MEDLINE]

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    20.

    A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood.

    Tenenbaum-Rakover Y, Sobrier ML, Amselem S.

    Clin Endocrinol (Oxf). 2011 Aug;75(2):214-9. doi: 10.1111/j.1365-2265.2011.04028.x.

    PMID:
    21521297
    [PubMed - indexed for MEDLINE]

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