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Results: 1 to 20 of 30

1.

Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia.

Kitoh H, Mishima K, Matsushita M, Nishida Y, Ishiguro N.

Bone Joint J. 2014 Sep;96-B(9):1269-73. doi: 10.1302/0301-620X.96B9.33840.

PMID:
25183602
[PubMed - indexed for MEDLINE]
2.

Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.

Vincenzi M, Camilot M, Ferrarini E, Teofoli F, Venturi G, Gaudino R, Cavarzere P, De Marco G, Agretti P, Dimida A, Tonacchera M, Boner A, Antoniazzi F.

BMC Endocr Disord. 2014 Aug 22;14:69. doi: 10.1186/1472-6823-14-69.

PMID:
25146893
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Achondroplasia and brain stem dysfunction.

Menezes AH.

Dev Med Child Neurol. 2014 Nov;56(11):1036. doi: 10.1111/dmcn.12510. Epub 2014 Jul 16. No abstract available.

PMID:
25040780
[PubMed - indexed for MEDLINE]
4.

A ten-year observation of somatic development of a first group of Polish children with Silver-Russell syndrome.

Sienko M, Petriczko E, Zajaczek S, Zygmunt-Gorska A, Starzyk J, Korpysz A, Petriczko J, Walczak A, Walczak M.

Neuro Endocrinol Lett. 2014;35(4):306-13.

PMID:
25038594
[PubMed - indexed for MEDLINE]
5.

Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series.

Mukherjee D, Pressman BD, Krakow D, Rimoin DL, Danielpour M.

J Neurosurg Pediatr. 2014 Sep;14(3):238-44. doi: 10.3171/2014.5.PEDS12614. Epub 2014 Jun 27.

PMID:
24971605
[PubMed - indexed for MEDLINE]
6.

Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.

Jafarifar F, Dietrich RC, Hiznay JM, Padgett RA.

RNA. 2014 Jul;20(7):1078-89. doi: 10.1261/rna.045187.114. Epub 2014 May 27.

PMID:
24865609
[PubMed - indexed for MEDLINE]
7.

Diffusion tensor imaging of the brainstem in children with achondroplasia.

Bosemani T, Orman G, Carson KA, Meoded A, Huisman TA, Poretti A.

Dev Med Child Neurol. 2014 Nov;56(11):1085-92. doi: 10.1111/dmcn.12492. Epub 2014 May 14.

PMID:
24825324
[PubMed - indexed for MEDLINE]
8.

IGF-1 and growth response to adult height in a randomized GH treatment trial in short non-GH-deficient children.

Kriström B, Lundberg E, Jonsson B, Albertsson-Wikland K; study group.

J Clin Endocrinol Metab. 2014 Aug;99(8):2917-24. doi: 10.1210/jc.2014-1101. Epub 2014 May 13.

PMID:
24823461
[PubMed - indexed for MEDLINE]
9.

Simultaneous bilateral lengthening of femora and tibiae in achondroplastic patients.

Kocaoğlu M, Bilen FE, Dikmen G, Balci HI, Eralp L.

Acta Orthop Traumatol Turc. 2014;48(2):157-63. doi: 10.3944/AOTT.2014.3274.

PMID:
24747623
[PubMed - indexed for MEDLINE]
Free Article
10.

High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes.

Roulot D, Malan V, Ziol M, Linglart A, Bourcier V, Beaugrand M, Benzacken B.

J Clin Endocrinol Metab. 2014 Aug;99(8):E1592-6. doi: 10.1210/jc.2014-1037. Epub 2014 Apr 14.

PMID:
24731013
[PubMed - indexed for MEDLINE]
11.

Cockayne syndrome: varied requirement of transcription-coupled nucleotide excision repair for the removal of three structurally different adducts from transcribed DNA.

Kitsera N, Gasteiger K, Lühnsdorf B, Allgayer J, Epe B, Carell T, Khobta A.

PLoS One. 2014 Apr 8;9(4):e94405. doi: 10.1371/journal.pone.0094405. eCollection 2014.

PMID:
24713864
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Hip pathology in Majewski osteodysplastic primordial dwarfism type II.

Karatas AF, Bober MB, Rogers K, Duker AL, Ditro CP, Mackenzie WG.

J Pediatr Orthop. 2014 Sep;34(6):585-90. doi: 10.1097/BPO.0000000000000183.

PMID:
24705347
[PubMed - indexed for MEDLINE]
13.

Validation of the Flemish version of the Quality of Life in Short Stature Youth (QoLISSY) questionnaire.

Rohenkohl AC, De Schepper J, Vanderfaeillie J, Fricke K, Hendrickx S, Lagrou K, Bullinger M, Quitmann J; QoLISSY Study Group.

Acta Clin Belg. 2014 Jun;69(3):177-82. doi: 10.1179/2295333714Y.0000000024. Epub 2014 Apr 2.

PMID:
24694268
[PubMed - indexed for MEDLINE]
14.

Mortality in babies with achondroplasia: revisited.

Simmons K, Hashmi SS, Scheuerle A, Canfield M, Hecht JT.

Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):247-9. doi: 10.1002/bdra.23210. Epub 2014 Feb 12.

PMID:
24677650
[PubMed - indexed for MEDLINE]
15.

FGFR3 induces degradation of BMP type I receptor to regulate skeletal development.

Qi H, Jin M, Duan Y, Du X, Zhang Y, Ren F, Wang Y, Tian Q, Wang X, Wang Q, Zhu Y, Xie Y, Liu C, Cao X, Mishina Y, Chen D, Deng CX, Chang Z, Chen L.

Biochim Biophys Acta. 2014 Jul;1843(7):1237-47. doi: 10.1016/j.bbamcr.2014.03.011. Epub 2014 Mar 20.

PMID:
24657641
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The etiology of short stature affects the clinical outcome of lower limb lengthening using external fixation. A systematic review of 18 trials involving 547 patients.

Kim SJ, Pierce W, Sabharwal S.

Acta Orthop. 2014 Apr;85(2):181-6. doi: 10.3109/17453674.2014.899856. Review.

PMID:
24650027
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Syndromic disorders with short stature.

Şıklar Z, Berberoğlu M.

J Clin Res Pediatr Endocrinol. 2014;6(1):1-8. doi: 10.4274/Jcrpe.1149. Review.

PMID:
24637303
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Novel mutations in the GH gene (GH1) uncover putative splicing regulatory elements.

Babu D, Mellone S, Fusco I, Petri A, Walker GE, Bellone S, Prodam F, Momigliano-Richiardi P, Bona G, Giordano M.

Endocrinology. 2014 May;155(5):1786-92. doi: 10.1210/en.2013-2146. Epub 2014 Mar 17.

PMID:
24635352
[PubMed - indexed for MEDLINE]
19.

Screening for congenital hypothyroidism: a worldwide view of strategies.

Ford G, LaFranchi SH.

Best Pract Res Clin Endocrinol Metab. 2014 Mar;28(2):175-87. doi: 10.1016/j.beem.2013.05.008. Epub 2013 Jun 18. Review.

PMID:
24629860
[PubMed - indexed for MEDLINE]
20.

Towards the pre-clinical diagnosis of hypothyroidism caused by iodotyrosine deiodinase (DEHAL1) defects.

Iglesias A, García-Nimo L, Cocho de Juan JA, Moreno JC.

Best Pract Res Clin Endocrinol Metab. 2014 Mar;28(2):151-9. doi: 10.1016/j.beem.2013.10.009. Epub 2013 Oct 29. Review.

PMID:
24629858
[PubMed - indexed for MEDLINE]

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