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Items: 1 to 20 of 100

1.

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV.

Hum Genet. 2011 Oct;130(4):495-504. doi: 10.1007/s00439-011-0968-y. Epub 2011 Feb 22.

2.

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, Ponting CP, Martin A, Williams S, Lindley V, Gilmore J, Restori M, Robson AG, Neveu MM, Holder GE, Collin JR, Robinson DO, Farndon P, Johansen-Berg H, Gerrelli D, Ragge NK.

Am J Hum Genet. 2008 Feb;82(2):304-19. doi: 10.1016/j.ajhg.2007.09.023. Epub 2008 Jan 31.

3.

Mutations in PIK3R1 cause SHORT syndrome.

Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL; FORGE Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM.

Am J Hum Genet. 2013 Jul 11;93(1):158-66. doi: 10.1016/j.ajhg.2013.06.005. Epub 2013 Jun 27.

4.

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Thauvin-Robinet C, Auclair M, Duplomb L, Caron-Debarle M, Avila M, St-Onge J, Le Merrer M, Le Luyer B, Héron D, Mathieu-Dramard M, Bitoun P, Petit JM, Odent S, Amiel J, Picot D, Carmignac V, Thevenon J, Callier P, Laville M, Reznik Y, Fagour C, Nunes ML, Capeau J, Lascols O, Huet F, Faivre L, Vigouroux C, Rivière JB.

Am J Hum Genet. 2013 Jul 11;93(1):141-9. doi: 10.1016/j.ajhg.2013.05.019. Epub 2013 Jun 27.

5.

PIK3R1 mutations in SHORT syndrome.

Schroeder C, Riess A, Bonin M, Bauer P, Riess O, Döbler-Neumann M, Wieser S, Moog U, Tzschach A.

Clin Genet. 2014 Sep;86(3):292-4. doi: 10.1111/cge.12263. Epub 2013 Oct 17.

PMID:
23980586
6.

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

Bárcena C, Quesada V, De Sandre-Giovannoli A, Puente DA, Fernández-Toral J, Sigaudy S, Baban A, Lévy N, Velasco G, López-Otín C.

BMC Med Genet. 2014 May 2;15:51. doi: 10.1186/1471-2350-15-51.

7.

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

Petrovski S, Parrott RE, Roberts JL, Huang H, Yang J, Gorentla B, Mousallem T, Wang E, Armstrong M, McHale D, MacIver NJ, Goldstein DB, Zhong XP, Buckley RH.

J Clin Immunol. 2016 Jul;36(5):462-71. doi: 10.1007/s10875-016-0281-6. Epub 2016 Apr 13.

8.

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.

Martínez-Fernández ML, Bermejo-Sánchez E, Fernández B, MacDonald A, Fernández-Toral J, Martínez-Frías ML.

Am J Med Genet A. 2014 Feb;164A(2):338-45. doi: 10.1002/ajmg.a.36224. Epub 2013 Dec 5. Review.

PMID:
24311462
9.

Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.

Bravo García-Morato M, García-Miñaúr S, Molina Garicano J, Santos Simarro F, Del Pino Molina L, López-Granados E, Ferreira Cerdán A, Rodríguez Pena R.

Clin Immunol. 2017 Jun;179:77-80. doi: 10.1016/j.clim.2017.03.004. Epub 2017 Mar 14.

PMID:
28302518
10.

Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2.

Lumaka A, Van Hole C, Casteels I, Ortibus E, De Wolf V, Vermeesch JR, Lukusa T, Devriendt K.

Am J Med Genet A. 2012 Jun;158A(6):1381-7. doi: 10.1002/ajmg.a.35353. Epub 2012 May 11.

PMID:
22581619
11.

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV.

Clin Genet. 2014 Nov;86(5):475-81. doi: 10.1111/cge.12379. Epub 2014 Apr 12.

12.

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

Gestri G, Osborne RJ, Wyatt AW, Gerrelli D, Gribble S, Stewart H, Fryer A, Bunyan DJ, Prescott K, Collin JR, Fitzgerald T, Robinson D, Carter NP, Wilson SW, Ragge NK.

Hum Genet. 2009 Dec;126(6):791-803. doi: 10.1007/s00439-009-0730-x.

13.

Autosomal dominant PIK3R1 mutations cause SHORT syndrome.

Chung BK, Gibson WT.

Clin Genet. 2014 Mar;85(3):228-9. doi: 10.1111/cge.12262. Epub 2013 Sep 23.

PMID:
24033310
14.

Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis.

Takenouchi T, Nishina S, Kosaki R, Torii C, Furukawa R, Takahashi T, Kosaki K.

Eur J Med Genet. 2013 Jan;56(1):50-3. doi: 10.1016/j.ejmg.2012.10.007. Epub 2012 Oct 26.

PMID:
23103883
15.

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Vieira V, David G, Roche O, de la Houssaye G, Boutboul S, Arbogast L, Kobetz A, Orssaud C, Camand O, Schorderet DF, Munier F, Rossi A, Delezoide AL, Marsac C, Ricquier D, Dufier JL, Menasche M, Abitbol M.

Mol Vis. 2006 Dec 1;12:1448-60.

16.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A, David G, Schwartz C, Jaliffa C, Vieira V, de la Houssaye G, Bigot K, Catin F, Tattu L, Chopin C, Halimi P, Roche O, Van Regemorter N, Munier F, Schorderet D, Dufier JL, Marsac C, Ricquier D, Menasche M, Penfornis A, Abitbol M.

Mol Vis. 2007 Apr 2;13:511-23.

17.

Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.

Ullah E, Wu D, Madireddy L, Lao R, Ling-Fung Tang P, Wan E, Bardakjian T, Kopinsky S, Kwok PY, Schneider A, Baranzini S, Ansar M, Slavotinek A.

Ophthalmic Genet. 2017 Jul-Aug;38(4):371-375. doi: 10.1080/13816810.2016.1217550. Epub 2016 Sep 23.

PMID:
27661448
18.

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.

Prontera P, Micale L, Verrotti A, Napolioni V, Stangoni G, Merla G.

Hum Mutat. 2015 Nov;36(11):1043-7. doi: 10.1002/humu.22853. Epub 2015 Aug 24.

PMID:
26252249
19.

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

Zhang X, Li S, Xiao X, Jia X, Wang P, Shen H, Guo X, Zhang Q.

Mol Vis. 2009 Dec 27;15:2911-8.

20.

Short syndrome-an expanding phenotype.

Singh A, Arora R, Singh P, Kapoor S.

Indian Pediatr. 2013 Apr;50(4):414-6.

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