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Results: 1 to 20 of 98

Similar articles for PubMed (Select 24289245)

1.

Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.

Breitfeld J, Martens S, Klammt J, Schlicke M, Pfäffle R, Krause K, Weidle K, Schleinitz D, Stumvoll M, Führer D, Kovacs P, Tönjes A.

BMC Endocr Disord. 2013 Dec 1;13:56. doi: 10.1186/1472-6823-13-56.

2.

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.

Correa FA, Trarbach EB, Tusset C, Latronico AC, Montenegro LR, Carvalho LR, Franca MM, Otto AP, Costalonga EF, Brito VN, Abreu AP, Nishi MY, Jorge AA, Arnhold IJ, Sidis Y, Pitteloud N, Mendonca BB.

Endocr Connect. 2015 Jun;4(2):100-7. doi: 10.1530/EC-15-0015. Epub 2015 Mar 10.

3.

Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation.

Asakura Y, Muroya K, Hanakawa J, Sato T, Aida N, Narumi S, Hasegawa T, Adachi M.

Clin Pediatr Endocrinol. 2015 Jan;24(1):27-32. doi: 10.1297/cpe.24.27. Epub 2015 Feb 10.

4.

A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.

Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T.

Pituitary. 2014 Dec;17(6):569-74. doi: 10.1007/s11102-013-0546-5.

PMID:
24346842
5.

Genetic variants and effects on milk traits of the caprine paired-like homeodomain transcription factor 2 (PITX2) gene in dairy goats.

Zhao H, Wu X, Cai H, Pan C, Lei C, Chen H, Lan X.

Gene. 2013 Dec 15;532(2):203-10. doi: 10.1016/j.gene.2013.09.062. Epub 2013 Sep 25.

PMID:
24076438
6.

Polymorphism of BMP4 gene in Indian goat breeds differing in prolificacy.

Sharma R, Ahlawat S, Maitra A, Roy M, Mandakmale S, Tantia MS.

Gene. 2013 Dec 10;532(1):140-5. doi: 10.1016/j.gene.2013.08.086. Epub 2013 Sep 5.

PMID:
24013084
7.

Molecular and Clinical Findings in Patients with LHX4 and OTX2 Mutations.

Tajima T, Ishizu K, Nakamura A.

Clin Pediatr Endocrinol. 2013 Apr;22(2):15-23. doi: 10.1292/cpe.22.15. Epub 2013 Apr 26.

8.

A PROP1-binding factor, AES cloned by yeast two-hybrid assay represses PROP1-induced Pit-1 gene expression.

Sugiyama Y, Ikeshita N, Shibahara H, Yamamoto D, Kawagishi M, Iguchi G, Iida K, Takahashi Y, Kaji H, Chihara K, Okimura Y.

Mol Cell Endocrinol. 2013 Aug 25;376(1-2):93-8. doi: 10.1016/j.mce.2013.05.022. Epub 2013 Jun 1.

PMID:
23732115
9.

Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency.

Kandemir N, Vurallı D, Taşkıran E, Gönç N, Özön A, Alikaşifoğlu A, Yılmaz E.

Turk J Pediatr. 2012 Nov-Dec;54(6):570-5.

10.

Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency.

Fukami M, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I, Kinoshita E, Dateki S, Ogata T.

Endocr J. 2013;60(8):1013-20. Epub 2013 May 9.

11.

Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency.

Birla S, Jyotsana PV, Sharma A, Khadgawat R, Garg M, Jain V.

Indian J Endocrinol Metab. 2012 Dec;16(Suppl 2):S310-2. doi: 10.4103/2230-8210.104071.

12.

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.

Flemming GM, Klammt J, Ambler G, Bao Y, Blum WF, Cowell C, Donaghue K, Howard N, Kumar A, Sanchez J, Stobbe H, Pfäffle RW.

J Clin Endocrinol Metab. 2013 Mar;98(3):E567-75. doi: 10.1210/jc.2012-3224. Epub 2013 Feb 13.

13.

Developmental analysis and influence of genetic background on the Lhx3 W227ter mouse model of combined pituitary hormone deficiency disease.

Prince KL, Colvin SC, Park S, Lai X, Witzmann FA, Rhodes SJ.

Endocrinology. 2013 Feb;154(2):738-48. doi: 10.1210/en.2012-1790. Epub 2013 Jan 3.

14.

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.

Takagi M, Ishii T, Inokuchi M, Amano N, Narumi S, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T.

PLoS One. 2012;7(9):e46008. doi: 10.1371/journal.pone.0046008. Epub 2012 Sep 24.

15.

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.

França MM, Jorge AA, Carvalho LR, Costalonga EF, Otto AP, Correa FA, Mendonca BB, Arnhold IJ.

Clin Endocrinol (Oxf). 2013 Apr;78(4):551-7. doi: 10.1111/cen.12044.

PMID:
22967285
16.

Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency.

Gorbenko del Blanco D, de Graaff LC, Visser TJ, Hokken-Koelega AC.

Clin Endocrinol (Oxf). 2013 Mar;78(3):415-23. doi: 10.1111/cen.12000.

PMID:
22897141
17.

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
18.

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
19.

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.

20.

Genetic causes of combined pituitary hormone deficiencies in humans.

Castinetti F, Reynaud R, Saveanu A, Barlier A, Brue T.

Ann Endocrinol (Paris). 2012 Apr;73(2):53-5. doi: 10.1016/j.ando.2012.03.025. Epub 2012 Apr 21. Review.

PMID:
22521856
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