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Journal Abstract Search

186 related items for PubMed ID: 23029363

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  • 2. Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.
    Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, González Briceño L, Netchine I, Oliver-Petit I, Sobrier ML, Amselem S, Legendre M.
    J Clin Endocrinol Metab; 2017 Jan 01; 102(1):290-301. PubMed ID: 27820671
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  • 3. PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency.
    de Graaff LC, Argente J, Veenma DC, Drent ML, Uitterlinden AG, Hokken-Koelega AC.
    Horm Res Paediatr; 2010 Jan 01; 73(5):363-71. PubMed ID: 20389107
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  • 4. Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.
    Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, Mizota M, Yokoya S, Motomura K, Kinoshita E, Moriuchi H, Ogata T.
    J Clin Endocrinol Metab; 2010 Aug 01; 95(8):4043-7. PubMed ID: 20534763
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  • 5. Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.
    Baş F, Uyguner ZO, Darendeliler F, Aycan Z, Çetinkaya E, Berberoğlu M, Şiklar Z, Öcal G, Darcan Ş, Gökşen D, Topaloğlu AK, Yüksel B, Özbek MN, Ercan O, Evliyaoğlu O, Çetinkaya S, Şen Y, Atabek E, Toksoy G, Aydin BK, Bundak R.
    Endocrine; 2015 Jun 01; 49(2):479-91. PubMed ID: 25500790
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  • 8. Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.
    Gregory LC, Humayun KN, Turton JP, McCabe MJ, Rhodes SJ, Dattani MT.
    J Clin Endocrinol Metab; 2015 Jun 01; 100(6):2158-64. PubMed ID: 25871839
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  • 9. LHX3 and LHX4 transcription factors in pituitary development and disease.
    Colvin SC, Mullen RD, Pfaeffle RW, Rhodes SJ.
    Pediatr Endocrinol Rev; 2009 Jan 01; 6 Suppl 2():283-90. PubMed ID: 19337183
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  • 11. Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
    Kırkgöz T, Gürsoy S, Acar S, Nalbantoğlu Ö, Özkaya B, Anıl Korkmaz H, Hazan F, Özkan B.
    Arch Endocrinol Metab; 2023 Nov 10; 68():e220254. PubMed ID: 37948564
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  • 12. Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue.
    Rochette C, Jullien N, Saveanu A, Caldagues E, Bergada I, Braslavsky D, Pfeifer M, Reynaud R, Herman JP, Barlier A, Brue T, Enjalbert A, Castinetti F.
    PLoS One; 2015 Nov 10; 10(5):e0126648. PubMed ID: 25955177
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  • 17. Genetic analysis of adult Slovenian patients with combined pituitary hormone deficiency.
    Bajuk Studen K, Stefanija MA, Saveanu A, Barlier A, Brue T, Pfeifer M.
    Endocrine; 2019 Aug 10; 65(2):379-385. PubMed ID: 31093944
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  • 18. Pituitary Hypoplasia.
    Gangat M, Radovick S.
    Endocrinol Metab Clin North Am; 2017 Jun 10; 46(2):247-257. PubMed ID: 28476222
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  • 19. [Congenital hypopituitarism: when should transcription factor gene screenings be performed?].
    Reynaud R, Barlier A, Chadli-Chaieb M, Saveanu A, Simonin G, Enjalbert A, Brue T.
    Presse Med; 2004 Mar 27; 33(6):400-5. PubMed ID: 15105786
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  • 20. Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.
    Ziemnicka K, Budny B, Drobnik K, Baszko-Błaszyk D, Stajgis M, Katulska K, Waśko R, Wrotkowska E, Słomski R, Ruchała M.
    J Appl Genet; 2016 Aug 27; 57(3):373-81. PubMed ID: 26608600
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