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Results: 1 to 20 of 44

1.

Iodine and the "near" eradication of cretinism.

Syed S.

Pediatrics. 2015 Apr;135(4):594-6. doi: 10.1542/peds.2014-3718. Review. No abstract available.

PMID:
25825529
2.

DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM.

Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26.

PMID:
25817016
3.

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

Bunn KJ, Daniel P, Rösken HS, O'Neill AC, Cameron-Christie SR, Morgan T, Brunner HG, Lai A, Kunst HP, Markie DM, Robertson SP.

Am J Hum Genet. 2015 Apr 2;96(4):623-30. doi: 10.1016/j.ajhg.2015.02.010. Epub 2015 Mar 26.

PMID:
25817014
4.

Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism.

Romanet P, Osei L, Netchine I, Pertuit M, Enjalbert A, Reynaud R, Barlier A.

Pediatrics. 2015 Apr;135(4):e1079-83. doi: 10.1542/peds.2014-2806.

PMID:
25802348
5.

Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS.

Am J Hum Genet. 2015 Mar 5;96(3):412-24. doi: 10.1016/j.ajhg.2015.01.013. Epub 2015 Feb 26.

PMID:
25728776
6.
7.

Quality of life in transition phase in adolescents and young adults with severe and partial growth hormone deficiency.

Oswiecimska JM, Roczniak W, Romanowicz D, Szymlak A, Mikolajczak A, Malczyk Z, Stojewska M, Ziora KT.

Neuro Endocrinol Lett. 2014;35(8):676-83.

PMID:
25702295
8.

Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome.

Marsaud C, Rossignol S, Tounian P, Netchine I, Dubern B.

Arch Dis Child. 2015 Apr;100(4):353-8. doi: 10.1136/archdischild-2013-305864. Epub 2014 Nov 18.

PMID:
25700540
9.

Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism.

Wendt DJ, Dvorak-Ewell M, Bullens S, Lorget F, Bell SM, Peng J, Castillo S, Aoyagi-Scharber M, O'Neill CA, Krejci P, Wilcox WR, Rimoin DL, Bunting S.

J Pharmacol Exp Ther. 2015 Apr;353(1):132-49. doi: 10.1124/jpet.114.218560. Epub 2015 Feb 3.

PMID:
25650377
10.

Genome-wide methylation analysis in Silver-Russell syndrome patients.

Prickett AR, Ishida M, Böhm S, Frost JM, Puszyk W, Abu-Amero S, Stanier P, Schulz R, Moore GE, Oakey RJ.

Hum Genet. 2015 Mar;134(3):317-32. doi: 10.1007/s00439-014-1526-1. Epub 2015 Jan 7.

PMID:
25563730
11.

MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability.

Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A.

Am J Hum Genet. 2014 Dec 4;95(6):754-62. doi: 10.1016/j.ajhg.2014.11.002.

12.

Mutation screening of the sodium iodide symporter gene in a cohort of 105 China patients with congenital hypothyroidism.

Fu C, Chen S, Chen R, Fan X, Luo J, Li C, Qian J.

Arq Bras Endocrinol Metabol. 2014 Nov;58(8):828-32. Epub 2014 Nov 1.

13.

Increased serum and bone matrix levels of the secreted Wnt antagonist DKK-1 in patients with growth hormone deficiency in response to growth hormone treatment.

Ueland T, Olarescu NC, Jørgensen AP, Otterdal K, Aukrust P, Godang K, Lekva T, Bollerslev J.

J Clin Endocrinol Metab. 2015 Feb;100(2):736-43. doi: 10.1210/jc.2014-2912. Epub 2014 Dec 2.

PMID:
25459913
14.

Pregnancy outcomes and relationship to treatment adequacy in women treated early for congenital hypothyroidism: a longitudinal population-based study.

Léger J, dos Santos S, Larroque B, Ecosse E.

J Clin Endocrinol Metab. 2015 Mar;100(3):860-9. doi: 10.1210/jc.2014-3049. Epub 2014 Nov 25.

PMID:
25423569
15.

C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.

Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB.

J Clin Endocrinol Metab. 2015 Feb;100(2):E355-9. doi: 10.1210/jc.2014-2814. Epub 2014 Nov 11.

PMID:
25387261
16.

Congenital hypothyroidism: etiology and growth-development outcome.

Dalili S, Rezvani SM, Dalili H, Mohtasham Amiri Z, Mohammadi H, Abrisham Kesh S, Novin MH, Medghalchi A, Gholamnezhad H.

Acta Med Iran. 2014;52(10):752-6.

17.

The severity of congenital hypothyroidism of central origin should not be underestimated.

Zwaveling-Soonawala N, van Trotsenburg AS, Verkerk PH.

J Clin Endocrinol Metab. 2015 Feb;100(2):E297-300. doi: 10.1210/jc.2014-2871. Epub 2014 Oct 27.

PMID:
25347570
18.

The dwarf phenotype in GH240B mice, haploinsufficient for the autism candidate gene Neurobeachin, is caused by ectopic expression of recombinant human growth hormone.

Nuytens K, Tuand K, Fu Q, Stijnen P, Pruniau V, Meulemans S, Vankelecom H, Creemers JW.

PLoS One. 2014 Oct 15;9(10):e109598. doi: 10.1371/journal.pone.0109598. eCollection 2014.

19.

The different requirement of L-T4 therapy in congenital athyreosis compared with adult-acquired hypothyroidism suggests a persisting thyroid hormone resistance at the hypothalamic-pituitary level.

Bagattini B, Cosmo CD, Montanelli L, Piaggi P, Ciampi M, Agretti P, Marco GD, Vitti P, Tonacchera M.

Eur J Endocrinol. 2014 Nov;171(5):615-21. doi: 10.1530/EJE-14-0621.

PMID:
25305309
20.

Pericentrin: critical for spindle orientation.

Luo Y, Pelletier L.

Curr Biol. 2014 Oct 6;24(19):R962-4. doi: 10.1016/j.cub.2014.08.062.

PMID:
25291638
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