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Items: 1 to 20 of 64

1.

Of mice, men, and King Tut: autosomal recessive Klippel-Feil syndrome is caused by mutations in MEOX1.

Rosti RO.

Clin Genet. 2013 Jul;84(1):19. doi: 10.1111/cge.12159. Epub 2013 Apr 26. No abstract available.

PMID:
23557384
2.

Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly.

Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS.

Am J Hum Genet. 2013 Jan 10;92(1):157-61. doi: 10.1016/j.ajhg.2012.11.016. Epub 2013 Jan 3.

3.

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype.

Bayrakli F, Guclu B, Yakicier C, Balaban H, Kartal U, Erguner B, Sagiroglu MS, Yuksel S, Ozturk AR, Kazanci B, Ozum U, Kars HZ.

BMC Genet. 2013 Sep 28;14:95. doi: 10.1186/1471-2156-14-95.

4.

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR; Baylor-Hopkins Center for Mendelian Genomics.

Am J Med Genet A. 2015 Nov;167A(11):2795-9. doi: 10.1002/ajmg.a.37263. Epub 2015 Aug 4.

5.

Mutations in PAX1 may be associated with Klippel-Feil syndrome.

McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M.

Eur J Hum Genet. 2003 Jun;11(6):468-74.

6.

Autosomal recessive Klippel-Feil syndrome.

Da Silva EO.

J Med Genet. 1982 Apr;19(2):130-4. No abstract available.

7.

Cervico-oculo-acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?

Corsello G, Carcione A, Castro L, Giuffrè L.

Klin Padiatr. 1990 May-Jun;202(3):176-9.

PMID:
2355722
8.
9.

Absent ulna in the Klippel-Feil syndrome: an unusual associated malformation.

Chemke J, Nisani R, Fischel RE.

Clin Genet. 1980 Feb;17(2):167-70.

PMID:
7363502
10.

Monozygotic twins discordant for Klippel-Feil syndrome.

Toyoshima M, Maegaki Y, Yuasa I, Ohno K.

Pediatr Neurol. 2006 Jan;34(1):76-8.

PMID:
16376286
11.

Congenital brevicollis--(Klippel-Feil syndrome).

Gellis SS, Feingold M.

Am J Dis Child. 1971 Jun;121(6):501-2. No abstract available.

PMID:
5581018
12.

Is there a relation between Klippel-Feil sequence and Kallmann syndrome?

Zlotogora J.

Am J Med Genet. 1995 Feb 13;55(4):507-8. Review. No abstract available.

PMID:
7762597
13.

[A family with Klippel-Feil syndrome and other malformations of the vertebral column].

Pfändler U, Gloor RD.

J Genet Hum. 1966 Jun;15(1):103-20. French. No abstract available.

PMID:
5963510
14.
15.

Klippel-Feil syndrome and Dandy-Walker malformation.

Karaman A, Kahveci H.

Genet Couns. 2011;22(4):411-5.

PMID:
22303802
16.

[Shereshevskiĭ-Turner syndrome in a patient with Klippel-Feil syndrome].

Suchkova EN, Panova TN, Egorova SP, Poliakova GA.

Klin Med (Mosk). 1987 Nov;65(11):127-8. Russian. No abstract available.

PMID:
3431074
17.

The Klippel-Feil anomalad as part of the fetal alcohol syndrome.

Lowry RB.

Teratology. 1977 Aug;16(1):53-6.

PMID:
561452
18.

Pseudodiploidies in Klippel-Feil syndrome.

Goh KO.

J Am Med Womens Assoc (1972). 1979 Aug;34(8):309, 314-5. No abstract available.

PMID:
232112
19.

Can mutations in the ribosomal protein S26 (RPS26) gene lead to Klippel-Feil syndrome in Diamond-Blackfan anemia patients? An update from the Czech Diamond-Blackfan Anemia registry.

Cmejla R, Ludikova B, Sukova M, Blatny J, Pospisilova D.

Blood Cells Mol Dis. 2011 Apr 15;46(4):300-1. doi: 10.1016/j.bcmd.2011.02.003. No abstract available.

PMID:
21414820
20.

Agenesis of the right internal carotid artery and Klippel-Feil syndrome: case report.

Braga M, Pederzoli M, Beretta S, Ferrarini M, Canovaro P, Arpaia G, Crespi V.

Spine (Phila Pa 1976). 2009 Sep 15;34(20):E740-2. doi: 10.1097/BRS.0b013e3181b41181.

PMID:
19752694

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