PubMed

The ups and downs of mutation frequencies during aging can account for the apert syndrome paternal age effect.

Yoon SR, Qin J, Glaser RL, Wang Jabs E, Wexler NS, Sokol R, Arnheim N, Calabrese P.

PLoS Genet. 2009 Jul;5(7):e1000558. Epub 2009 Jul 10.PMID: 19593369 [PubMed - indexed for MEDLINE]Related articlesFree article

Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement.

Kohan E, Longaker MT, Nguyen J, Kawamoto H, Wexler A, Cahan L, Katchikian HV, Bradley JP.

J Craniofac Surg. 2009 May;20(3):811-5.PMID: 19390453 [PubMed - indexed for MEDLINE]Related articles

Le premier siècle: one hundred years of progress in the treatment of Apert syndrome.

Perlyn CA, Nichols C, Woo A, Becker D, Kane AA.

J Craniofac Surg. 2009 May;20(3):801-6.PMID: 19387362 [PubMed - indexed for MEDLINE]Related articles

Atypical Apert syndrome: sequential and segmental distraction osteogenesis of the skull, midface, and mandible.

Mitsukawa N, Satoh K, Hayashi T, Morishita T, Hosaka Y.

Scand J Plast Reconstr Surg Hand Surg. 2009;43(2):109-12.PMID: 19308862 [PubMed - indexed for MEDLINE]Related articles

Apert syndrome: report of a case with emphasis on craniofacial and genetic features.

Martelli H Jr, Paranaíba LM, de Miranda RT, Orsi J Jr, Coletta RD.

Pediatr Dent. 2008 Nov-Dec;30(6):464-8.PMID: 19186770 [PubMed - indexed for MEDLINE]Related articles

Inner ear anomalies and conductive hearing loss in children with Apert syndrome: an overlooked otologic aspect.

Zhou G, Schwartz LT, Gopen Q.

Otol Neurotol. 2009 Feb;30(2):184-9.PMID: 19169132 [PubMed - indexed for MEDLINE]Related articles

Utilization of postcranioplasty skull molding caps in the treatment of Apert syndrome.

McIntosh BC, Lee SS, Ball LL, Persing JA.

J Craniofac Surg. 2008 Nov;19(6):1566-70.PMID: 19098553 [PubMed - indexed for MEDLINE]Related articles

Apert syndrome: the current role of prenatal ultrasound and genetic analysis in diagnosis and counselling.

Athanasiadis AP, Zafrakas M, Polychronou P, Florentin-Arar L, Papasozomenou P, Norbury G, Bontis JN.

Fetal Diagn Ther. 2008;24(4):495-8. Epub 2008 Dec 11.PMID: 19077386 [PubMed - indexed for MEDLINE]Related articles

FGFR2 signaling and the pathogenesis of acne.

Melnik B, Schmitz G.

J Dtsch Dermatol Ges. 2008 Sep;6(9):721-8. Review. English, German. PMID: 19000061 [PubMed - indexed for MEDLINE]Related articles

Apert syndrome: review and report a case.

Carneiro GV, Farias JG, Santos FA, Lamberti PL.

Braz J Otorhinolaryngol. 2008 Jul-Aug;74(4):640. Review. No abstract available. PMID: 18853000 [PubMed - indexed for MEDLINE]Related articlesFree article

Raised intracranial pressure in Apert syndrome.

Marucci DD, Dunaway DJ, Jones BM, Hayward RD.

Plast Reconstr Surg. 2008 Oct;122(4):1162-8; discussion 1169-70.PMID: 18827651 [PubMed - indexed for MEDLINE]Related articles

Successful isotretinoin treatment of acne in a patient with Apert syndrome.

Dolenc-Voljc M, Finzgar-Perme M.

Acta Derm Venereol. 2008;88(5):534-5. No abstract available. PMID: 18779907 [PubMed - indexed for MEDLINE]Related articles

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

Bochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, Deininger PL, Wilkie AO.

Hum Mutat. 2009 Feb;30(2):204-11.PMID: 18726952 [PubMed - indexed for MEDLINE]Related articles

Blindness as a complication of monobloc frontofacial advancement with distraction.

Alonso N, Goldenberg D, Fonseca AS, Kanashiro E, Matsushita H, Freitas Rda S, Shin JH.

J Craniofac Surg. 2008 Jul;19(4):1170-3.PMID: 18650754 [PubMed - indexed for MEDLINE]Related articles

Axillary osmidrosis in Apert syndrome: management with an arthroscopic shaver technique.

Hess J, Lonergan I, Rozzelle AA, Arneja JS.

J Craniofac Surg. 2008 Jul;19(4):1126-30.PMID: 18650746 [PubMed - indexed for MEDLINE]Related articles

A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations.

Choi SK, Yoon SR, Calabrese P, Arnheim N.

Proc Natl Acad Sci U S A. 2008 Jul 22;105(29):10143-8. Epub 2008 Jul 16.PMID: 18632557 [PubMed - indexed for MEDLINE]Related articlesFree article

Physical and oral characteristics of Crouzon syndrome, Apert syndrome, and Pierre Robin sequence.

Horbelt CV.

Gen Dent. 2008 Mar-Apr;56(2):132-4. Review. No abstract available. PMID: 18348368 [PubMed - indexed for MEDLINE]Related articles

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.

Schluth-Bolard C, Till M, Labalme A, Rey C, Banquart E, Fautrelle A, Martin-Denavit T, Le Lorc'h M, Romana SP, Lazar V, Edery P, Sanlaville D.

Eur J Med Genet. 2008 Mar-Apr;51(2):156-64. Epub 2007 Dec 24.PMID: 18255367 [PubMed - indexed for MEDLINE]Related articles

A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.

Yin L, Du X, Li C, Xu X, Chen Z, Su N, Zhao L, Qi H, Li F, Xue J, Yang J, Jin M, Deng C, Chen L.

Bone. 2008 Apr;42(4):631-43. Epub 2008 Jan 31.PMID: 18242159 [PubMed - indexed for MEDLINE]Related articles

Monozygotic twins with Apert syndrome.

Breugem CC, Fitzpatrick DF, Verchere C.

Cleft Palate Craniofac J. 2008 Jan;45(1):101-4.PMID: 18215098 [PubMed - indexed for MEDLINE]Related articles