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Results: 1 to 20 of 100

1.

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor MC, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell AL, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA.

Am J Hum Genet. 2012 Mar 9;90(3):494-501. doi: 10.1016/j.ajhg.2012.01.003. Epub 2012 Mar 1. Erratum in: Am J Hum Genet. 2014 Apr 3;94(4):643.

PMID:
22387013
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.

Mehawej C, Courcet JB, Baujat G, Mouy R, Gérard M, Landru I, Gosselin M, Koehrer P, Mousson C, Breton S, Quartier P, Le Merrer M, Faivre L, Cormier-Daire V.

Am J Med Genet A. 2013 Dec;161A(12):3023-9. doi: 10.1002/ajmg.a.36151. Epub 2013 Aug 16.

PMID:
23956186
[PubMed - indexed for MEDLINE]
3.

An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome.

Dworschak GC, Draaken M, Hilger A, Born M, Reutter H, Ludwig M.

Int J Mol Med. 2013 Jul;32(1):174-8. doi: 10.3892/ijmm.2013.1373. Epub 2013 May 10.

PMID:
23670161
[PubMed - indexed for MEDLINE]
4.

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.

Mumm S, Huskey M, Duan S, Wenkert D, Madson KL, Gottesman GS, Nenninger AR, Laxer RM, McAlister WH, Whyte MP.

Am J Med Genet A. 2014 Sep;164(9):2287-93. doi: 10.1002/ajmg.a.36641. Epub 2014 Jul 2.

PMID:
24989131
[PubMed - in process]
5.

Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome.

Zhao W, Petit E, Gafni RI, Collins MT, Robey PG, Seton M, Miller KK, Mannstadt M.

Osteoporos Int. 2013 Aug;24(8):2275-81. doi: 10.1007/s00198-013-2298-5. Epub 2013 Feb 7.

PMID:
23389697
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

Isidor B, Lindenbaum P, Pichon O, Bézieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C.

Nat Genet. 2011 Mar 6;43(4):306-8. doi: 10.1038/ng.778.

PMID:
21378989
[PubMed - indexed for MEDLINE]
7.

Multicentric carpal-tarsal osteolysis with nephropathy treated successfully with cyclosporine A: a case report and literature review.

Connor A, Highton J, Hung NA, Dunbar J, MacGinley R, Walker R.

Am J Kidney Dis. 2007 Oct;50(4):649-54. Review.

PMID:
17900466
[PubMed - indexed for MEDLINE]
8.

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV, Mansour S, Holder SE, Brain CE, Burton BK, Kim KH, Pauli RM, Aftimos S, Stewart H, Kim CA, Holder-Espinasse M, Robertson SP, Drake WM, Trembath RC.

Nat Genet. 2011 Mar 6;43(4):303-5. doi: 10.1038/ng.779.

PMID:
21378985
[PubMed - indexed for MEDLINE]
9.

Case report: Multicentric carpal/tarsal osteolysis: imaging review and 25-year follow-up.

Thomas CW, Bisset AJ, Sampson MA, Armstrong RD.

Clin Radiol. 2006 Oct;61(10):892-5. No abstract available.

PMID:
16978987
[PubMed - indexed for MEDLINE]
10.

Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis.

Faber MR, Verlaak R, Fiselier TJ, Hamel BC, Franssen MJ, Gerrits GP.

Eur J Pediatr. 2004 Oct;163(10):612-8.

PMID:
15290262
[PubMed - indexed for MEDLINE]
11.

Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.

Dixon ME, Armstrong P, Stevens DB, Bamshad M.

Genet Med. 2001 Sep-Oct;3(5):349-53.

PMID:
11545688
[PubMed - indexed for MEDLINE]
12.

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H; FORGE Canada Consortium, Michaud JL, Samuels ME.

Hum Mutat. 2011 Oct;32(10):1114-7. doi: 10.1002/humu.21546. Epub 2011 Sep 9.

PMID:
21681853
[PubMed - indexed for MEDLINE]
13.

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.

Mol Vis. 2013 Nov 7;19:2187-95. eCollection 2013.

PMID:
24227914
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects.

Tuysuz B, Mosig R, Altun G, Sancak S, Glucksman MJ, Martignetti JA.

Eur J Hum Genet. 2009 May;17(5):565-72. doi: 10.1038/ejhg.2008.204. Epub 2008 Nov 5.

PMID:
18985071
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The orthopedic and renal manifestations of idiopathic carpal tarsal osteolysis.

Carmichael KD, Launikitis RA, Kalia A.

J Pediatr Orthop B. 2007 Nov;16(6):451-4.

PMID:
17909346
[PubMed - indexed for MEDLINE]
16.

Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts.

Polvi A, Linnankivi T, Kivelä T, Herva R, Keating JP, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, Pihko H, Lehesjoki AE.

Am J Hum Genet. 2012 Mar 9;90(3):540-9. doi: 10.1016/j.ajhg.2012.02.002. Epub 2012 Mar 1.

PMID:
22387016
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation.

Debeer P, Huysmans C, Van de Ven WJ, Fryns JP, Devriendt K.

Am J Med Genet A. 2005 Apr 30;134(3):318-20.

PMID:
15736221
[PubMed - indexed for MEDLINE]
18.

Idiopathic carpotarsal osteolysis with Bartter's syndrome. A case report and review of the literature.

Szöke G, Vizkelety TL, Rényi-Vámos A, Elek E.

Clin Orthop Relat Res. 1995 Jan;(310):120-9. Review.

PMID:
7641427
[PubMed - indexed for MEDLINE]
19.

Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.

Min BJ, Kim N, Chung T, Kim OH, Nishimura G, Chung CY, Song HR, Kim HW, Lee HR, Kim J, Kang TH, Seo ME, Yang SD, Kim DH, Lee SB, Kim JI, Seo JS, Choi JY, Kang D, Kim D, Park WY, Cho TJ.

Am J Hum Genet. 2011 Dec 9;89(6):760-6. doi: 10.1016/j.ajhg.2011.10.015.

PMID:
22152677
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.

Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryke CR, Israel J, Rosengren SS, Webster MK, Donoghue DJ, Francomano CA.

Am J Hum Genet. 2000 Dec;67(6):1411-21. Epub 2000 Oct 27.

PMID:
11055896
[PubMed - indexed for MEDLINE]
Free PMC Article

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