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Results: 18

1.

Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot.

Bhardwaj M, Grange C.

Int J Obstet Anesth. 2013 Jul;22(3):251-4. doi: 10.1016/j.ijoa.2013.04.009. Epub 2013 May 22.

PMID:
23706836
[PubMed - indexed for MEDLINE]
2.

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

Twigg SR, Lloyd D, Jenkins D, Elçioglu NE, Cooper CD, Al-Sannaa N, Annagür A, Gillessen-Kaesbach G, Hüning I, Knight SJ, Goodship JA, Keavney BD, Beales PL, Gileadi O, McGowan SJ, Wilkie AO.

Am J Hum Genet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j.ajhg.2012.08.027. Epub 2012 Oct 11.

PMID:
23063620
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Carpenter syndrome: a case report.

Begum S, Khatun N, Rayhan SM, Rahman SA.

Mymensingh Med J. 2012 Jul;21(3):547-9.

PMID:
22828559
[PubMed - indexed for MEDLINE]
4.

Thyroid autoimmunity and polyglandular endocrine syndromes.

Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L.

Hormones (Athens). 2013 Jan-Mar;12(1):39-45. Review.

PMID:
23624130
[PubMed - indexed for MEDLINE]
Free Article
5.

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO.

Hum Mutat. 2011 Apr;32(4):E2069-78. doi: 10.1002/humu.21457. Epub 2011 Feb 8.

PMID:
21412941
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, Rieubland C, Gallati S, Rittinger O, Kroisel PM, Johnson D, Biesecker LG, Wilkie AO.

Eur J Hum Genet. 2011 Jul;19(7):757-62. doi: 10.1038/ejhg.2011.13. Epub 2011 Feb 16.

PMID:
21326280
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Hedgehog signaling update.

Cohen MM Jr.

Am J Med Genet A. 2010 Aug;152A(8):1875-914. doi: 10.1002/ajmg.a.32909. Review.

PMID:
20635334
[PubMed - indexed for MEDLINE]
8.

RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.

Alessandri JL, Dagoneau N, Laville JM, Baruteau J, Hébert JC, Cormier-Daire V.

Am J Med Genet A. 2010 Apr;152A(4):982-6. doi: 10.1002/ajmg.a.33327.

PMID:
20358613
[PubMed - indexed for MEDLINE]
9.

Sudden death in a child with Carpenter Syndrome. Case report and literature review.

Ramos JM, Davis GJ, Hunsaker JC 3rd, Balko MG.

Forensic Sci Med Pathol. 2009 Dec;5(4):313-7. doi: 10.1007/s12024-009-9128-2. Epub 2009 Nov 19. Review.

PMID:
19924577
[PubMed - indexed for MEDLINE]
10.

Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes.

Cohen MM Jr.

J Craniofac Surg. 2009 Mar;20 Suppl 1:646-51. doi: 10.1097/SCS.0b013e318193d48d. Erratum in: J Craniofac Surg. 2009 Sep;20(5):1629-30.

PMID:
19293680
[PubMed - indexed for MEDLINE]
11.

Carpenter syndrome.

Hidestrand P, Vasconez H, Cottrill C.

J Craniofac Surg. 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a.

PMID:
19165041
[PubMed - indexed for MEDLINE]
12.

Anesthetic implications of Carpenter syndrome (Acrocephalopolysyndactyly type II).

Batra YK, Rajeev S, Nishtala S, Grover G.

Paediatr Anaesth. 2008 Dec;18(12):1235-7. doi: 10.1111/j.1460-9592.2008.02736.x. No abstract available.

PMID:
19076584
[PubMed - indexed for MEDLINE]
13.

The Greig cephalopolysyndactyly syndrome.

Biesecker LG.

Orphanet J Rare Dis. 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. Review.

PMID:
18435847
[PubMed - indexed for MEDLINE]
Free PMC Article
14.
15.

Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings.

Perlyn CA, Marsh JL.

Plast Reconstr Surg. 2008 Mar;121(3):971-81. doi: 10.1097/01.prs.0000299284.92862.6c.

PMID:
18317146
[PubMed - indexed for MEDLINE]
16.

Genetic obesity syndromes.

Goldstone AP, Beales PL.

Front Horm Res. 2008;36:37-60. doi: 10.1159/0000115336. Review.

PMID:
18230893
[PubMed - indexed for MEDLINE]
17.

Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others.

Chen CP.

Taiwan J Obstet Gynecol. 2007 Jun;46(2):111-20. Review.

PMID:
17638618
[PubMed - indexed for MEDLINE]
18.

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

Jenkins D, Seelow D, Jehee FS, Perlyn CA, Alonso LG, Bueno DF, Donnai D, Josifova D, Mathijssen IM, Morton JE, Orstavik KH, Sweeney E, Wall SA, Marsh JL, Nurnberg P, Passos-Bueno MR, Wilkie AO.

Am J Hum Genet. 2007 Jun;80(6):1162-70. Epub 2007 Apr 18. Erratum in: Am J Hum Genet. 2007 Nov;81(5):1114. Josifiova, Dragana [corrected to Josifova, Dragana].

PMID:
17503333
[PubMed - indexed for MEDLINE]
Free PMC Article

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