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Results: 1 to 20 of 99

1.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.

Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D.

Hum Genet. 2013 Aug;132(8):885-98. doi: 10.1007/s00439-013-1295-2. Epub 2013 Apr 9.

PMID:
23568615
[PubMed - indexed for MEDLINE]
2.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium, Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS.

Am J Hum Genet. 2012 May 4;90(5):925-33. doi: 10.1016/j.ajhg.2012.04.004. Epub 2012 Apr 26.

PMID:
22541558
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.

Nur BG, Bernier FP, Oztekin O, Kardelen F, Kalay S, Parboosingh JS, Mihci E.

Am J Med Genet A. 2013 Sep;161A(9):2311-5. doi: 10.1002/ajmg.a.36051. Epub 2013 Aug 2.

PMID:
23913624
[PubMed - indexed for MEDLINE]
4.

Nager syndrome: a case report.

Lin JL.

Pediatr Neonatol. 2012 Apr;53(2):147-50. doi: 10.1016/j.pedneo.2012.01.014. Epub 2012 Mar 3.

PMID:
22503264
[PubMed - indexed for MEDLINE]
5.

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

Petit F, Escande F, Jourdain AS, Porchet N, Amiel J, Doray B, Delrue MA, Flori E, Kim CA, Marlin S, Robertson SP, Manouvrier-Hanu S, Holder-Espinasse M.

Clin Genet. 2014 Sep;86(3):246-51. doi: 10.1111/cge.12259. Epub 2013 Sep 12.

PMID:
24003905
[PubMed - in process]
6.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, König R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, Schweiger B, Steehouwer M, Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Lüdecke HJ, Wieczorek D.

Orphanet J Rare Dis. 2013 Jul 24;8:110. doi: 10.1186/1750-1172-8-110.

PMID:
23879989
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D; FORGE Canada Consortium, Majewski J, Bulman DE, Wieczorek D, Boycott KM.

Am J Hum Genet. 2012 Feb 10;90(2):369-77. doi: 10.1016/j.ajhg.2011.12.023. Epub 2012 Feb 2.

PMID:
22305528
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Nager syndrome (preaxial acrofacial dysostosis): a case report.

Kavadia S, Kaklamanos EG, Antoniades K, Lafazanis V, Tramma D.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004 Jun;97(6):732-8.

PMID:
15184856
[PubMed - indexed for MEDLINE]
9.

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML.

Am J Med Genet A. 2013 Jan;161A(1):108-13. doi: 10.1002/ajmg.a.35696. Epub 2012 Dec 14.

PMID:
23239648
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?

McPherson E, Zaleski C, Ye Z, Lin S.

Am J Med Genet A. 2014 Jul;164(7):1841-5. doi: 10.1002/ajmg.a.36555. Epub 2014 Apr 8.

PMID:
24715698
[PubMed - in process]
11.

Anaesthetic implications of Nager syndrome.

Groeper K, Johnson JO, Braddock SR, Tobias JD.

Paediatr Anaesth. 2002 May;12(4):365-8.

PMID:
11982847
[PubMed - indexed for MEDLINE]
12.

A case report: nager acrofacial dysostosis.

Abdollahi Fakhim S, Shahidi N, Mousaviagdas M.

Iran J Otorhinolaryngol. 2012 Winter;24(66):45-50.

PMID:
24303385
[PubMed]
Free PMC Article
13.

Autosomal recessive inheritance of Nager acrofacial dysostosis.

Chemke J, Mogilner BM, Ben-Itzhak I, Zurkowski L, Ophir D.

J Med Genet. 1988 Apr;25(4):230-2.

PMID:
3367347
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Nager acrofacial dysostosis: male-to-male transmission in 2 families.

Aylsworth AS, Lin AE, Friedman PA.

Am J Med Genet. 1991 Oct 1;41(1):83-8.

PMID:
1951468
[PubMed - indexed for MEDLINE]
15.

Otologic and audiologic features of Nager acrofacial dysostosis.

Herrmann BW, Karzon R, Molter DW.

Int J Pediatr Otorhinolaryngol. 2005 Aug;69(8):1053-9. Epub 2005 Mar 19.

PMID:
16005346
[PubMed - indexed for MEDLINE]
16.

Nager acrofacial dysostosis: management of a difficult airway.

Friedman RA, Wood E, Pransky SM, Seid AB, Kearns DB.

Int J Pediatr Otorhinolaryngol. 1996 Mar;35(1):69-72. Review.

PMID:
8882111
[PubMed - indexed for MEDLINE]
17.

Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case.

Pfeiffer RA, Stoess H.

Am J Med Genet. 1983 Jun;15(2):255-60.

PMID:
6881198
[PubMed - indexed for MEDLINE]
18.

Prenatal ultrasound diagnosis of Nager syndrome.

Paladini D, Tartaglione A, Lamberti A, Lapadula C, Martinelli P.

Ultrasound Obstet Gynecol. 2003 Feb;21(2):195-7.

PMID:
12601847
[PubMed - indexed for MEDLINE]
Free Article
19.

Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome.

Kennedy SJ, Teebi AS.

Am J Med Genet A. 2004 Aug 15;129A(1):73-6.

PMID:
15266620
[PubMed - indexed for MEDLINE]
20.

Human facial dysostoses.

Wieczorek D.

Clin Genet. 2013 Jun;83(6):499-510. doi: 10.1111/cge.12123. Epub 2013 Apr 8. Review.

PMID:
23565775
[PubMed - indexed for MEDLINE]

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