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Items: 1 to 20 of 115

1.

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.

Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA.

Am J Med Genet A. 2014 Apr;164A(4):1062-8. doi: 10.1002/ajmg.a.36390. Epub 2014 Jan 23.

PMID:
24458983
2.

CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE.

Tüysüz B, Cinar B, Laçiner S, Onay H, Mittaz-Crettol L.

Genet Couns. 2015;26(2):187-94.

PMID:
26349188
3.

Circulating matrix γ-carboxyglutamate protein (MGP) species are refractory to vitamin K treatment in a new case of Keutel syndrome.

Cranenburg EC, VAN Spaendonck-Zwarts KY, Bonafe L, Mittaz Crettol L, Rödiger LA, Dikkers FG, VAN Essen AJ, Superti-Furga A, Alexandrakis E, Vermeer C, Schurgers LJ, Laverman GD.

J Thromb Haemost. 2011 Jun;9(6):1225-35. doi: 10.1111/j.1538-7836.2011.04263.x.

4.

A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome.

Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA.

Am J Med Genet A. 2005 May 15;135(1):36-40. Review.

PMID:
15810001
5.

Long term follow-up of four patients with Keutel syndrome.

Khosroshahi HE, Sahin SC, Akyuz Y, Ede H.

Am J Med Genet A. 2014 Nov;164A(11):2849-56. doi: 10.1002/ajmg.a.36699. Epub 2014 Aug 13.

6.

Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome.

Munroe PB, Olgunturk RO, Fryns JP, Van Maldergem L, Ziereisen F, Yuksel B, Gardiner RM, Chung E.

Nat Genet. 1999 Jan;21(1):142-4.

PMID:
9916809
7.

Characterization of vitamin K-dependent carboxylase mutations that cause bleeding and nonbleeding disorders.

Tie JK, Carneiro JD, Jin DY, Martinhago CD, Vermeer C, Stafford DW.

Blood. 2016 Apr 14;127(15):1847-55. doi: 10.1182/blood-2015-10-677633. Epub 2016 Jan 12.

8.

Tracheobronchial calcification associated with Keutel syndrome.

Ozdemir N, Ersu R, Akalin F, Karadag B, Kut A, Karakoç F, Elçioglu N, Dagli E.

Turk J Pediatr. 2006 Oct-Dec;48(4):357-61.

PMID:
17290573
9.

Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome.

Miller SF.

Pediatr Radiol. 2003 Mar;33(3):186-9. Epub 2002 Dec 19. Review.

PMID:
12612818
10.

A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype.

Demirel G, Oguz SS, Celik IH, Erdeve O, Uras N, Dilmen U.

Genet Couns. 2012;23(1):25-30.

PMID:
22611639
11.

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.

Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N.

Genet Med. 2013 Aug;15(8):650-7. doi: 10.1038/gim.2013.13. Epub 2013 Mar 7.

PMID:
23470839
12.

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.

Nino M, Matos-Miranda C, Maeda M, Chen L, Allanson J, Armour C, Greene C, Kamaluddeen M, Rita D, Medne L, Zackai E, Mansour S, Superti-Furga A, Lewanda A, Bober M, Rosenbaum K, Braverman N.

Am J Med Genet A. 2008 Apr 15;146A(8):997-1008. doi: 10.1002/ajmg.a.32159.

PMID:
18348268
13.
14.

X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple.

Casarin A, Rusalen F, Doimo M, Trevisson E, Carraro S, Clementi M, Tenconi R, Baraldi E, Salviati L.

Am J Med Genet A. 2009 Nov;149A(11):2464-8. doi: 10.1002/ajmg.a.33039.

PMID:
19839041
15.

A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient.

Perrone E, Chen K, Ramos M, Milanezi MF, Nakano V, Falconi A, Silva J, Campos J, Silva CMC, Filho JBO, Perez ABA.

Mol Syndromol. 2018 May;9(3):159-163. doi: 10.1159/000488573. Epub 2018 Apr 25.

16.

X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G.

Am J Med Genet A. 2003 Mar 1;117A(2):164-8.

PMID:
12567415
17.

Matrix Gla protein deficiency impairs nasal septum growth, causing midface hypoplasia.

Marulanda J, Eimar H, McKee MD, Berkvens M, Nelea V, Roman H, Borrás T, Tamimi F, Ferron M, Murshed M.

J Biol Chem. 2017 Jul 7;292(27):11400-11412. doi: 10.1074/jbc.M116.769802. Epub 2017 May 9.

18.

[A case of Keutel syndrome in child (review the literature)].

Xu L, Xia Z, Liu X, Huang S.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2012 Sep;26(18):793-4. Review. Chinese.

PMID:
23259292
19.

Keutel syndrome in a patient presenting with hearing loss.

Acar GO, Yilmaz M, Sekercioğlu N, Yüksel A.

B-ENT. 2010;6(3):201-4.

PMID:
21090163
20.

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.

Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G.

Am J Hum Genet. 1998 Mar;62(3):562-72.

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