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Journal Abstract Search

207 related items for PubMed ID: 28586151

  • 1. A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency.
    Parsons SJH, Wright NB, Burkitt-Wright E, Skae MS, Murray PG.
    Am J Med Genet A; 2017 Aug; 173(8):2261-2267. PubMed ID: 28586151
    [Abstract] [Full Text] [Related]

  • 2. PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.
    Reynaud R, Jayakody SA, Monnier C, Saveanu A, Bouligand J, Guedj AM, Simonin G, Lecomte P, Barlier A, Rondard P, Martinez-Barbera JP, Guiochon-Mantel A, Brue T.
    J Clin Endocrinol Metab; 2012 Jun; 97(6):E1068-73. PubMed ID: 22466334
    [Abstract] [Full Text] [Related]

  • 3. Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.
    McCormack SE, Li D, Kim YJ, Lee JY, Kim SH, Rapaport R, Levine MA.
    J Clin Endocrinol Metab; 2017 Jul 01; 102(7):2501-2507. PubMed ID: 28453858
    [Abstract] [Full Text] [Related]

  • 4. 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 01; 129(2):e529-34. PubMed ID: 22232309
    [Abstract] [Full Text] [Related]

  • 5. Classical and non-classical causes of GH deficiency in the paediatric age.
    Di Iorgi N, Morana G, Allegri AE, Napoli F, Gastaldi R, Calcagno A, Patti G, Loche S, Maghnie M.
    Best Pract Res Clin Endocrinol Metab; 2016 Dec 01; 30(6):705-736. PubMed ID: 27974186
    [Abstract] [Full Text] [Related]

  • 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 01; 97(4):E694-9. PubMed ID: 22319038
    [Abstract] [Full Text] [Related]

  • 7. Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.
    Elizabeth MSM, Verkerk AJMH, Hokken-Koelega ACS, Verlouw JAM, Argente J, Pfaeffle R, Neggers SJCMM, Visser JA, de Graaff LCG.
    Pituitary; 2021 Apr 01; 24(2):229-241. PubMed ID: 33184694
    [Abstract] [Full Text] [Related]

  • 8. Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
    McCabe MJ, Gaston-Massuet C, Gregory LC, Alatzoglou KS, Tziaferi V, Sbai O, Rondard P, Masumoto KH, Nagano M, Shigeyoshi Y, Pfeifer M, Hulse T, Buchanan CR, Pitteloud N, Martinez-Barbera JP, Dattani MT.
    J Clin Endocrinol Metab; 2013 Mar 01; 98(3):E547-57. PubMed ID: 23386640
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 58(3):527-532. PubMed ID: 28332357
    [Abstract] [Full Text] [Related]

  • 10. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
    Karaca E, Buyukkaya R, Pehlivan D, Charng WL, Yaykasli KO, Bayram Y, Gambin T, Withers M, Atik MM, Arslanoglu I, Bolu S, Erdin S, Buyukkaya A, Yaykasli E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR.
    J Clin Endocrinol Metab; 2015 Jan 01; 100(1):E140-7. PubMed ID: 25322266
    [Abstract] [Full Text] [Related]

  • 11. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
    Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG.
    Am J Hum Genet; 2017 Dec 07; 101(6):985-994. PubMed ID: 29198724
    [Abstract] [Full Text] [Related]

  • 12. Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.
    França MM, Jorge AA, Carvalho LR, Costalonga EF, Vasques GA, Leite CC, Mendonca BB, Arnhold IJ.
    J Clin Endocrinol Metab; 2010 Nov 07; 95(11):E384-91. PubMed ID: 20685856
    [Abstract] [Full Text] [Related]

  • 13. PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency.
    Kardelen AD, Najafli A, Baş F, Karaman B, Toksoy G, Poyrazoğlu Ş, Avcı Ş, Altunoğlu U, Yavaş Abalı Z, Öztürk AP, Karakılıç Özturan E, Başaran S, Darendeliler F, Uyguner ZO.
    J Clin Res Pediatr Endocrinol; 2023 Nov 22; 15(4):338-347. PubMed ID: 37338295
    [Abstract] [Full Text] [Related]

  • 14. Role of GLI2 in hypopituitarism phenotype.
    Arnhold IJ, França MM, Carvalho LR, Mendonca BB, Jorge AA.
    J Mol Endocrinol; 2015 Jun 22; 54(3):R141-50. PubMed ID: 25878059
    [Abstract] [Full Text] [Related]

  • 15. 20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder.
    Williams PG, Wetherbee JJ, Rosenfeld JA, Hersh JH.
    Am J Med Genet A; 2011 Jan 22; 155A(1):186-91. PubMed ID: 21204230
    [Abstract] [Full Text] [Related]

  • 16. Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.
    Sloop KW, Walvoord EC, Showalter AD, Pescovitz OH, Rhodes SJ.
    J Clin Endocrinol Metab; 2000 Aug 22; 85(8):2701-8. PubMed ID: 10946868
    [Abstract] [Full Text] [Related]

  • 17. Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.
    Cox KH, Oliveira LMB, Plummer L, Corbin B, Gardella T, Balasubramanian R, Crowley WF.
    Hum Mol Genet; 2018 Jan 15; 27(2):338-350. PubMed ID: 29161432
    [Abstract] [Full Text] [Related]

  • 18. [Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].
    Halász Z.
    Orv Hetil; 2011 Feb 06; 152(6):221-32. PubMed ID: 21278027
    [Abstract] [Full Text] [Related]

  • 19. Heterozygous defects in PAX6 gene and congenital hypopituitarism.
    Takagi M, Nagasaki K, Fujiwara I, Ishii T, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T.
    Eur J Endocrinol; 2015 Jan 06; 172(1):37-45. PubMed ID: 25342853
    [Abstract] [Full Text] [Related]

  • 20. Unique near-complete deletion of GLI2 in a patient with combined pituitary hormone deficiency and post-axial polydactyly.
    Elizabeth MSM, Verkerk AJMH, Hokken-Koelega ACS, Verlouw JAM, Argente J, Pfaeffle R, Visser TJ, Peeters RP, De Graaff LCG.
    Growth Horm IGF Res; 2020 Feb 06; 50():35-41. PubMed ID: 31862539
    [Abstract] [Full Text] [Related]

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