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Items: 15

1.

Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).

Dill P, Schneider J, Weber P, Trachsel D, Tekin M, Jakobs C, Thöny B, Blau N.

Mol Genet Metab. 2011 Nov;104(3):362-8. doi: 10.1016/j.ymgme.2011.05.019. Epub 2011 Jun 2.

PMID:
21752681
2.

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.

Sensi A, Ceruti S, Trevisi P, Gualandi F, Busi M, Donati I, Neri M, Ferlini A, Martini A.

Am J Med Genet A. 2011 May;155A(5):1096-101. doi: 10.1002/ajmg.a.33962. Epub 2011 Apr 7.

PMID:
21480479
3.

Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome.

Riazuddin S, Ahmed ZM, Hegde RS, Khan SN, Nasir I, Shaukat U, Riazuddin S, Butman JA, Griffith AJ, Friedman TB, Choi BY.

BMC Med Genet. 2011 Feb 9;12:21. doi: 10.1186/1471-2350-12-21.

4.

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia.

Ramsebner R, Ludwig M, Parzefall T, Lucas T, Baumgartner WD, Bodamer O, Cengiz FB, Schoefer C, Tekin M, Frei K.

Laryngoscope. 2010 Feb;120(2):359-64. doi: 10.1002/lary.20689.

PMID:
19950373
5.

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).

Alsmadi O, Meyer BF, Alkuraya F, Wakil S, Alkayal F, Al-Saud H, Ramzan K, Al-Sayed M.

Eur J Hum Genet. 2009 Jan;17(1):14-21. doi: 10.1038/ejhg.2008.141. Epub 2008 Aug 13.

6.

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Tekin M, Oztürkmen Akay H, Fitoz S, Birnbaum S, Cengiz FB, Sennaroğlu L, Incesulu A, Yüksel Konuk EB, Hasanefendioğlu Bayrak A, Sentürk S, Cebeci I, Utine GE, Tunçbilek E, Nance WE, Duman D.

Clin Genet. 2008 Jun;73(6):554-65. doi: 10.1111/j.1399-0004.2008.01004.x. Epub 2008 Apr 22.

PMID:
18435799
7.

Pediatric pedestrian injuries: emergency care considerations.

Chakravarthy B, Vaca FE, Lotfipour S, Bradley D.

Pediatr Emerg Care. 2007 Oct;23(10):738-44. Review.

8.

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.

Gregory-Evans CY, Moosajee M, Hodges MD, Mackay DS, Game L, Vargesson N, Bloch-Zupan A, Rüschendorf F, Santos-Pinto L, Wackens G, Gregory-Evans K.

Hum Mol Genet. 2007 Oct 15;16(20):2482-93. Epub 2007 Jul 25.

PMID:
17656375
9.

Differential requirements for FGF3, FGF8 and FGF10 during inner ear development.

Zelarayan LC, Vendrell V, Alvarez Y, Domínguez-Frutos E, Theil T, Alonso MT, Maconochie M, Schimmang T.

Dev Biol. 2007 Aug 15;308(2):379-91. Epub 2007 Jun 2.

10.

Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia.

Tekin M, Hişmi BO, Fitoz S, Ozdağ H, Cengiz FB, Sirmaci A, Aslan I, Inceoğlu B, Yüksel-Konuk EB, Yilmaz ST, Yasun O, Akar N.

Am J Hum Genet. 2007 Feb;80(2):338-44. Epub 2006 Dec 27.

11.

Fgf signaling is required for zebrafish tooth development.

Jackman WR, Draper BW, Stock DW.

Dev Biol. 2004 Oct 1;274(1):139-57.

12.

Fgf3 and Fgf10 are required for mouse otic placode induction.

Wright TJ, Mansour SL.

Development. 2003 Aug;130(15):3379-90.

13.

Injury prevention for children with disabilities.

Gaebler-Spira D, Thornton LS.

Phys Med Rehabil Clin N Am. 2002 Nov;13(4):891-906. Review.

PMID:
12465566
14.

Associations of FGF-3 and FGF-10 with signaling networks regulating tooth morphogenesis.

Kettunen P, Laurikkala J, Itäranta P, Vainio S, Itoh N, Thesleff I.

Dev Dyn. 2000 Nov;219(3):322-32.

15.

Induction of inner ear fate by FGF3.

Vendrell V, Carnicero E, Giraldez F, Alonso MT, Schimmang T.

Development. 2000 May;127(10):2011-9.

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