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Items: 9

1.

Short stature and dysmorphology associated with defects in the SHOX gene.

Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E.

Hormones (Athens). 2006 Apr-Jun;5(2):107-18. Review.

2.

SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis.

Ogata T.

Growth Horm IGF Res. 1999 Jun;9 Suppl B:53-7; discussion 57-8. Review.

PMID:
10549307
3.

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis.

Lucchetti L, Prontera P, Mencarelli A, Sallicandro E, Mencarelli A, Cofini M, Leonardi A, Stangoni G, Penta L, Esposito S.

Front Endocrinol (Lausanne). 2018 Apr 10;9:163. doi: 10.3389/fendo.2018.00163. eCollection 2018.

4.

Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.

Tropeano M, Howley D, Gazzellone MJ, Wilson CE, Ahn JW, Stavropoulos DJ, Murphy CM, Eis PS, Hatchwell E, Dobson RJ, Robertson D, Holder M, Irving M, Josifova D, Nehammer A, Ryten M, Spain D, Pitts M, Bramham J, Asherson P, Curran S, Vassos E, Breen G, Flinter F, Ogilvie CM, Collier DA, Scherer SW, McAlonan GM, Murphy DG.

J Med Genet. 2016 Aug;53(8):536-47. doi: 10.1136/jmedgenet-2015-103621. Epub 2016 Apr 12.

PMID:
27073233
5.

Delay in an Eating Disorder Diagnosis: The Reason Was a "Shox".

Reed S, Curran KA, Middleman AB.

J Pediatr Adolesc Gynecol. 2018 Apr;31(2):138-139. doi: 10.1016/j.jpag.2017.11.001. Epub 2017 Nov 14.

PMID:
29154842
6.

Short stature homeobox-containing gene duplications in 3.7% of girls with tall stature and normal karyotypes.

Upners EN, Jensen RB, Rajpert-De Meyts E, Dunø M, Aksglaede L, Juul A.

Acta Paediatr. 2017 Oct;106(10):1651-1657. doi: 10.1111/apa.13969. Epub 2017 Jul 20.

PMID:
28667773
7.

Microdeletion and mutation analysis of the SHOX gene in patients with idiopathic short stature with FISH and sequencing

Bakır A, Yirmibeş Karaoğuz M, Perçin FE, Tuğ E, Cinaz P, Ergün MA.

Turk J Med Sci. 2018 Apr 30;48(2):386-390. doi: 10.3906/sag-1711-74.

PMID:
29714459
8.

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.

Montalbano A, Juergensen L, Fukami M, Thiel CT, Hauer NH, Roeth R, Weiss B, Naiki Y, Ogata T, Hassel D, Rappold GA.

Eur J Hum Genet. 2018 Apr 30. doi: 10.1038/s41431-018-0148-9. [Epub ahead of print]

PMID:
29706635
9.

The impact of genetic syndromes on children's growth.

Giordano BP.

J Pediatr Health Care. 1992 Sep-Oct;6(5 Pt 2):309-15.

PMID:
1453286

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