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Items: 1 to 20 of 210

1.

Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.

Dhamija R, Kirmani S, Wang X, Ferber MJ, Wieben ED, Lazaridis KN, Babovic-Vuksanovic D.

Am J Med Genet A. 2014 Sep;164A(9):2356-9. doi: 10.1002/ajmg.a.36621. Epub 2014 May 28.

PMID:
24888332
2.

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B, Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G, Abramowicz M, Smits G, Vilain C.

J Med Genet. 2013 Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603. Epub 2013 Jun 28.

3.

Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.

Oliver JD, Menapace DC, Cofer SA.

Int J Pediatr Otorhinolaryngol. 2017 Jul;98:4-8. doi: 10.1016/j.ijporl.2017.04.035. Epub 2017 Apr 24. Review.

PMID:
28583501
4.

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome.

Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanović A, Richieri-Costa A, Ribeiro-Bicudo LA, Kruszka P, Roessler E, Muenke M.

Hum Mol Genet. 2016 May 15;25(10):1912-1922. Epub 2016 Feb 29.

5.

Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting.

Takenouchi T, Okuno H, Kosaki R, Ariyasu D, Torii C, Momoshima S, Harada N, Yoshihashi H, Takahashi T, Awazu M, Kosaki K.

Am J Med Genet A. 2012 Oct;158A(10):2537-41. doi: 10.1002/ajmg.a.35465. Epub 2012 Aug 10.

PMID:
22887648
6.

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

Ben-Salem S, Sobreira N, Akawi NA, Al-Shamsi AM, John A, Pramathan T, Valle D, Ali BR, Al-Gazali L.

Am J Med Genet A. 2016 Jan;170A(1):156-61. doi: 10.1002/ajmg.a.37405. Epub 2015 Sep 23.

7.

A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis.

Barbaro V, Nardiello P, Castaldo G, Willoughby CE, Ferrari S, Ponzin D, Amato F, Bonifazi E, Parekh M, Calistri A, Parolin C, Di Iorio E.

Am J Med Genet A. 2012 Aug;158A(8):1957-61. doi: 10.1002/ajmg.a.35414. Epub 2012 Jun 27.

PMID:
22740388
8.

Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes.

Zechi-Ceide RM, Ribeiro LA, Raskin S, Bertolacini CD, Guion-Almeida ML, Richieri-Costa A.

Am J Med Genet A. 2009 Jun;149A(6):1277-9. doi: 10.1002/ajmg.a.32844.

PMID:
19449411
9.

A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.

Sorasio L, Biamino E, Garelli E, Ferrero GB, Silengo MC.

Clin Exp Dermatol. 2009 Dec;34(8):e726-8. doi: 10.1111/j.1365-2230.2009.03451.x. Epub 2009 Jul 29.

PMID:
19663851
10.

Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate.

Xu H, Niu Y, Wang T, Liu S, Xu H, Wang S, Liu J, Ye Z.

Biomed Res Int. 2015;2015:649698. doi: 10.1155/2015/649698. Epub 2015 Jun 25.

11.

Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review.

Vilain C, Mortier G, Van Vliet G, Dubourg C, Heinrichs C, de Silva D, Verloes A, Baumann C.

Am J Med Genet A. 2009 Jul;149A(7):1476-81. doi: 10.1002/ajmg.a.32678. Review.

12.

Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome.

Niu DM, Huang JY, Li HY, Liu KM, Wang ST, Chen YJ, Udaka T, Izumi K, Kosaki K.

Prenat Diagn. 2006 Nov;26(11):1054-7.

PMID:
16958143
13.

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome.

Prontera P, Garelli E, Isidori I, Mencarelli A, Carando A, Silengo MC, Donti E.

Am J Med Genet A. 2011 Nov;155A(11):2746-9. doi: 10.1002/ajmg.a.34270. Epub 2011 Oct 11.

PMID:
21990121
14.

Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome.

Takagi M, Miyoshi T, Nagashima Y, Shibata N, Yagi H, Fukuzawa R, Hasegawa T.

Hum Genome Var. 2016 Oct 13;3:16034. eCollection 2016.

15.

The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.

Lansdon LA, Bernabe HV, Nidey N, Standley J, Schnieders MJ, Murray JC.

J Dent Res. 2017 Oct;96(11):1339-1345. doi: 10.1177/0022034517726496. Epub 2017 Aug 21.

PMID:
28825856
16.

Correlation of the SNPs of FGFR1, FGF10, FGF18 with nonsyndromic cleft lip with or without palate in Chinese population.

Wan WD, Yang SL, Liu JY, Cui YG, Zhou XP, Guo FF, Cheng HY, Cheng L, Xiao PF, Lu ZH.

Beijing Da Xue Xue Bao. 2009 Aug 18;41(4):409-13.

17.

Ectrodactyly, cleft lip and palate in two half sibs.

Lewis MB, Pashayan HM.

J Med Genet. 1981 Oct;18(5):394-6.

18.

Discordant semilobar holoprosencephaly in monozygotic twins with de novo inv dup(15) marker chromosome and de novo mutation on SHH gene.

Peng HH, Kuo PL, Chao AS, Wang TH, Chang YL, Soong YK, Chang SD.

Fetal Diagn Ther. 2007;22(5):389-93. Epub 2007 Jun 5.

PMID:
17556830
19.

Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature.

Keaton AA, Solomon BD, van Essen AJ, Pfleghaar KM, Slama MA, Martin JA, Muenke M.

Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):170-5. doi: 10.1002/ajmg.c.30251. Review.

20.

Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up.

König R, Beeg T, Tariverdian G, Scheffer H, Bitter K.

Clin Dysmorphol. 2003 Oct;12(4):221-5.

PMID:
14564207

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