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Results: 1 to 20 of 266

1.

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.

Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V.

J Med Genet. 2003 Jan;40(1):34-6.

PMID:
12525539
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Med Genet A. 2003 Dec 1;123A(2):204-7. Review.

PMID:
14598350
[PubMed - indexed for MEDLINE]
3.

Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1.

Wirtz MK, Samples JR, Kramer PL, Rust K, Yount J, Acott TS, Koler RD, Cisler J, Jahed A, Gorlin RJ, Godfrey M.

Am J Med Genet. 1996 Oct 2;65(1):68-75.

PMID:
8914744
[PubMed - indexed for MEDLINE]
4.

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.

Faivre L, Mégarbané A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier B, Bacq D, Legeai-Mallet L, Bonaventure J, Munnich A, Cormier-Daire V.

Hum Genet. 2002 Apr;110(4):366-70. Epub 2002 Mar 13.

PMID:
11941487
[PubMed - indexed for MEDLINE]
5.

Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family.

Mégarbané A, Mustapha M, Bleik J, Waked N, Delague V, Loiselet J.

Clin Genet. 2000 Dec;58(6):473-8.

PMID:
11149617
[PubMed - indexed for MEDLINE]
6.

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Mégarbané A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V.

Am J Hum Genet. 2004 Nov;75(5):801-6. Epub 2004 Sep 13.

PMID:
15368195
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Genetic and molecular aspects of acromelic dysplasia.

Le Goff C, Cormier-Daire V.

Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23. Review.

PMID:
19396027
[PubMed - indexed for MEDLINE]
8.

Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

Cain SA, McGovern A, Baldwin AK, Baldock C, Kielty CM.

PLoS One. 2012;7(11):e48634. doi: 10.1371/journal.pone.0048634. Epub 2012 Nov 2.

PMID:
23133647
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Microenvironmental regulation by fibrillin-1.

Sengle G, Tsutsui K, Keene DR, Tufa SF, Carlson EJ, Charbonneau NL, Ono RN, Sasaki T, Wirtz MK, Samples JR, Fessler LI, Fessler JH, Sekiguchi K, Hayflick SJ, Sakai LY.

PLoS Genet. 2012 Jan;8(1):e1002425. doi: 10.1371/journal.pgen.1002425. Epub 2012 Jan 5.

PMID:
22242013
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The molecular genetics of Marfan syndrome and related microfibrillopathies.

Robinson PN, Godfrey M.

J Med Genet. 2000 Jan;37(1):9-25. Review.

PMID:
10633129
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.

Hayward C, Brock DJ.

Hum Mutat. 1997;10(6):415-23. Review.

PMID:
9401003
[PubMed - indexed for MEDLINE]
12.

Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.

Verloes A, Hermia JP, Galand A, Koulischer L, Dodinval P.

Am J Med Genet. 1992 Sep 1;44(1):48-51.

PMID:
1519650
[PubMed - indexed for MEDLINE]
13.

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al.

Nature. 1991 Jul 25;352(6333):337-9.

PMID:
1852208
[PubMed - indexed for MEDLINE]
14.

A homozygous mutation in LTBP2 causes isolated microspherophakia.

Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH.

Hum Genet. 2010 Oct;128(4):365-71. doi: 10.1007/s00439-010-0858-8. Epub 2010 Jul 9.

PMID:
20617341
[PubMed - indexed for MEDLINE]
15.

Weill Marchesani syndrome with chronic angle closure glaucoma in Ethiopia: a case report.

Tenkir A, Bekele S, Solomon B.

Ethiop Med J. 2009 Jan;47(1):81-3.

PMID:
19743786
[PubMed - indexed for MEDLINE]
16.

Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

Cecchi A, Ogawa N, Martinez HR, Carlson A, Fan Y, Penny DJ, Guo DC, Eisenberg S, Safi H, Estrera A, Lewis RA, Meyers D, Milewicz DM.

Am J Med Genet A. 2013 Sep;161A(9):2305-10. doi: 10.1002/ajmg.a.36044. Epub 2013 Jul 29.

PMID:
23897642
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.

Morales J, Al-Sharif L, Khalil DS, Shinwari JM, Bavi P, Al-Mahrouqi RA, Al-Rajhi A, Alkuraya FS, Meyer BF, Al Tassan N.

Am J Hum Genet. 2009 Nov;85(5):558-68. doi: 10.1016/j.ajhg.2009.09.011.

PMID:
19836009
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16.

PMID:
21683322
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

[Indirect genotype analysis as a diagnostic procedure in Marfan syndrome].

Laudahn BM, Gyürüs P, Orth U, Gal A, Nienaber CA.

Z Kardiol. 2000 Oct;89(10):939-48. German.

PMID:
11098545
[PubMed - indexed for MEDLINE]
20.

Weill-Marchesani Syndrome.

Tsilou E, MacDonald IM.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2007 Nov 01 [updated 2013 Feb 14].

PMID:
20301293
[PubMed]
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