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Items: 1 to 20 of 79

1.

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

Wigby K, Twigg SRF, Broderick R, Davenport KP, Wilkie AOM, Bickler SW, Jones MC.

Am J Med Genet A. 2017 Jun;173(6):1586-1592. doi: 10.1002/ajmg.a.38232. Epub 2017 Apr 6.

2.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM.

Am J Hum Genet. 2016 Jun 2;98(6):1256-1265. doi: 10.1016/j.ajhg.2016.04.007. Epub 2016 May 26.

3.

Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum.

Lovgren ML, Zhou Y, Hrčková G, Dallos T, Colmenero I, Twigg SRF, Moss C.

Br J Dermatol. 2019 May 23. doi: 10.1111/bjd.18150. [Epub ahead of print]

PMID:
31120550
4.

A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.

Zenker M, Tinschert S, Wieland I, Schanze D, Happle R.

Acta Derm Venereol. 2018 Apr 27;98(5):534-535. doi: 10.2340/00015555-2883. No abstract available.

5.

Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome.

Temple IK, Eccles DM, Winter RM, Baraitser M, Carr SB, Shortland D, Jones MC, Curry C.

Clin Dysmorphol. 1995 Apr;4(2):116-29.

PMID:
7606318
6.

Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome.

Happle R, Tinschert S.

Br J Dermatol. 2016 Nov;175(5):1108. doi: 10.1111/bjd.14924. Epub 2016 Sep 12. No abstract available.

PMID:
27484736
7.

Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome: reply from the authors.

Khamaysi Z, Sprecher E, Bergman R.

Br J Dermatol. 2016 Nov;175(5):1109. doi: 10.1111/bjd.14979. Epub 2016 Sep 19. No abstract available.

PMID:
27534807
8.

Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway.

Grange DK, Clericuzio CL, Bayliss SJ, Berk DR, Heideman RL, Higginson JK, Julian S, Lind A.

Am J Med Genet A. 2008 Oct 15;146A(20):2589-97. doi: 10.1002/ajmg.a.32503.

PMID:
18798318
9.

Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

Izumi K, Lippa AM, Wilkens A, Feret HA, McDonald-McGinn DM, Zackai EH.

Am J Med Genet A. 2013 Dec;161A(12):3150-4. doi: 10.1002/ajmg.a.36159. Epub 2013 Oct 2.

PMID:
24115525
10.

Mild case of Curry-Jones syndrome.

Thomas ER, Wakeling EL, Goodman FR, Dickinson JC, Hall CM, Brady AF.

Clin Dysmorphol. 2006 Apr;15(2):115-7.

PMID:
16531740
11.

Craniofacial anomalies.

Nagy L, Demke JC.

Facial Plast Surg Clin North Am. 2014 Nov;22(4):523-48. doi: 10.1016/j.fsc.2014.08.002. Epub 2014 Nov 8. Review.

PMID:
25444726
12.

CHARGE syndrome gastrointestinal involvement: from mouth to anus.

Hudson A, Macdonald M, Friedman JN, Blake K.

Clin Genet. 2017 Jul;92(1):10-17. doi: 10.1111/cge.12892. Epub 2017 Feb 2. Review.

PMID:
28155231
13.

Facial clefts and associated limb anomalies: description of three cases and a review of the literature.

Obdeijn MC, Offringa PJ, Bos RR, Verhagen AA, Niessen FB, Roche NA.

Cleft Palate Craniofac J. 2010 Nov;47(6):661-7. doi: 10.1597/09-033. Epub 2010 Mar 31. Review.

PMID:
20500063
14.

Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.

Mantilla-Capacho JM, Arnaud L, Díaz-Rodriguez M, Barros-Núñez P.

Genet Couns. 2005;16(4):403-6.

PMID:
16440883
15.

Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies.

Castori M, Silvestri E, Pedace L, Marseglia G, Tempera A, Antigoni I, Torricelli F, Majore S, Grammatico P.

Am J Med Genet A. 2009 Oct;149A(10):2193-9. doi: 10.1002/ajmg.a.32763.

PMID:
19731360
16.

Outcomes after the Ladd procedure in patients with heterotaxy syndrome, congenital heart disease, and intestinal malrotation.

Yu DC, Thiagarajan RR, Laussen PC, Laussen JP, Jaksic T, Weldon CB.

J Pediatr Surg. 2009 Jun;44(6):1089-95; discussion 1095. doi: 10.1016/j.jpedsurg.2009.02.015.

PMID:
19524722
17.

Metopic craniosynostosis due to mutations in GLI3: A novel association.

McDonald-McGinn DM, Feret H, Nah HD, Bartlett SP, Whitaker LA, Zackai EH.

Am J Med Genet A. 2010 Jul;152A(7):1654-60. doi: 10.1002/ajmg.a.33495.

PMID:
20583172
18.

A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.

Lv D, Luo Y, Yang W, Cao L, Wen Y, Zhao X, Sun M, Lo WH, Zhang X.

J Hum Genet. 2009 Jul;54(7):422-5. doi: 10.1038/jhg.2009.48. Epub 2009 May 22.

PMID:
19461659
19.

Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

Bashir RA, Dixit A, Goedhart C, Parboosingh JS, Innes AM; Care for Rare Canada Consortium, Ferreira P, Hasan SU, Au PB.

Am J Med Genet A. 2017 Oct;173(10):2596-2604. doi: 10.1002/ajmg.a.38355. Epub 2017 Jul 11.

PMID:
28696035
20.

Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2?

Diep V, Seaver LH.

Am J Med Genet A. 2015 Nov;167A(11):2780-5. doi: 10.1002/ajmg.a.37258. Epub 2015 Jul 31.

PMID:
26227324

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