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Results: 1 to 20 of 92

1.

Elbow deformities in a patient with mandibuloacral dysplasia type A.

Guglielmi V, D'Adamo M, D'Apice MR, Bellia A, Lauro D, Federici M, Lauro R, Novelli G, Sbraccia P.

Am J Med Genet A. 2010 Nov;152A(11):2711-3. doi: 10.1002/ajmg.a.33700. No abstract available.

PMID:
20949529
[PubMed - indexed for MEDLINE]
2.

Mandibuloacral dysplasia: a report of two Egyptian cases.

Afifi HH, El-Bassyouni HT.

Genet Couns. 2005;16(4):353-62.

PMID:
16440877
[PubMed - indexed for MEDLINE]
3.

A case of mandibuloacral dysplasia presenting with features of scleroderma.

Cefle A, Cefle K.

Int J Clin Pract. 2004 Jun;58(6):635-8.

PMID:
15311567
[PubMed - indexed for MEDLINE]
4.

Acro-osteolysis of the big toe in a patient with psoriatic arthritis.

Bocci EB, Biscontini D, Olivieri I, Gerli R.

J Rheumatol. 2009 Sep;36(9):2044. doi: 10.3899/jrheum.090259. No abstract available.

PMID:
19738210
[PubMed - indexed for MEDLINE]
5.

[An acro-osteolysis syndrome and its implications for dentistry].

Végh T.

Fogorv Sz. 1983 Aug;76(8):236-40. Hungarian. No abstract available.

PMID:
6578938
[PubMed - indexed for MEDLINE]
6.

Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers.

Al-Haggar M, Shams A, Madej-Pilarczyk A, Barakat T, Puzianowska-Kuznicka M.

J Clin Pathol. 2013 Nov;66(11):1000-4. doi: 10.1136/jclinpath-2013-201690. Epub 2013 Jun 17. No abstract available.

PMID:
23775434
[PubMed - indexed for MEDLINE]
7.

[Acro-osteolysis].

Lameiras FM.

Handchir Mikrochir Plast Chir. 1983 Jun;15(2):83-5. German.

PMID:
6884868
[PubMed - indexed for MEDLINE]
8.

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.

Agarwal AK, Fryns JP, Auchus RJ, Garg A.

Hum Mol Genet. 2003 Aug 15;12(16):1995-2001.

PMID:
12913070
[PubMed - indexed for MEDLINE]
Free Article
9.

Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency.

Agarwal AK, Zhou XJ, Hall RK, Nicholls K, Bankier A, Van Esch H, Fryns JP, Garg A.

J Investig Med. 2006 May;54(4):208-13.

PMID:
17152860
[PubMed - indexed for MEDLINE]
10.

Hajdu-Cheney syndrome: case report.

Prabhu NT, Munshi AK.

J Clin Pediatr Dent. 1996 Winter;20(2):169-72.

PMID:
8619980
[PubMed - indexed for MEDLINE]
11.

Mandibuloacral dysplasia type A in childhood.

Garavelli L, D'Apice MR, Rivieri F, Bertoli M, Wischmeijer A, Gelmini C, De Nigris V, Albertini E, Rosato S, Virdis R, Bacchini E, Dal Zotto R, Banchini G, Iughetti L, Bernasconi S, Superti-Furga A, Novelli G.

Am J Med Genet A. 2009 Oct;149A(10):2258-64. doi: 10.1002/ajmg.a.33005.

PMID:
19764019
[PubMed - indexed for MEDLINE]
12.

[Idiopathic multicentric osteolysis with craniodysplasis and mental retardation: a new syndrome? (author's transl)].

Mathias K, Ludwig U.

Rofo. 1977 Sep;127(3):255-61. German.

PMID:
143430
[PubMed - indexed for MEDLINE]
13.

[Long-term partial remission of Gorham syndrome].

Kolár J, Zídková H, Vohralík M, Stryhal F, Horácek F.

Rofo. 1981 Feb;134(2):214-5. German. No abstract available.

PMID:
6452371
[PubMed - indexed for MEDLINE]
14.

Acro-osteolysis and symphalangism mutations.

Debeer P, Fryns JP.

J Bone Miner Res. 2005 Jan;20(1):159; author reply 160. No abstract available.

PMID:
15619682
[PubMed - indexed for MEDLINE]
15.

Mandibuloacral dysplasia: a rare progeroid syndrome. Two brothers confirm autosomal recessive inheritance.

Pallotta R, Morgese G.

Clin Genet. 1984 Aug;26(2):133-8.

PMID:
6467666
[PubMed - indexed for MEDLINE]
16.

A comparative study of pycnodysostosis, cleidocranial dysostosis, osteopetrosis and acro-osteolysis.

Wolpowitz A, Matisonn A.

S Afr Med J. 1974 May 18;48(24):1011-8. No abstract available.

PMID:
4835770
[PubMed - indexed for MEDLINE]
17.

Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy?

Tenconi R, Miotti F, Miotti A, Audino G, Ferro R, Clementi M.

Am J Med Genet. 1986 Jun;24(2):357-64.

PMID:
3717214
[PubMed - indexed for MEDLINE]
18.

Acro-osteolysis and bone fragility.

Shaw DG.

Br J Radiol. 1969 Dec;42(504):934-6. No abstract available.

PMID:
5359461
[PubMed - indexed for MEDLINE]
19.

[Radiologic diagnosis of massive idiopathic osteolysis (Gorham-Stout syndrome)].

Gowin W, Rahmanzadeh R.

Rontgenpraxis. 1985 Apr;38(4):128-34. German. No abstract available.

PMID:
4002047
[PubMed - indexed for MEDLINE]
20.

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.

Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y.

Am J Med Genet A. 2007 Nov 1;143A(21):2598-603.

PMID:
17935239
[PubMed - indexed for MEDLINE]

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