Format
Sort by
Items per page

Send to

Choose Destination

Links from Books

Items: 18

1.

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L.

Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002. Epub 2012 Oct 25.

2.

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destrée A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC.

Nat Genet. 2012 Nov;44(11):1249-54. doi: 10.1038/ng.2421. Epub 2012 Sep 30.

3.

A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation.

Tug E, Loeys B, De Paepe A, Aydin H, Gideroglu K.

Genet Couns. 2010;21(2):225-32.

PMID:
20681224
4.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.

Stheneur C, Collod-Béroud G, Faivre L, Gouya L, Sultan G, Le Parc JM, Moura B, Attias D, Muti C, Sznajder M, Claustres M, Junien C, Baumann C, Cormier-Daire V, Rio M, Lyonnet S, Plauchu H, Lacombe D, Chevallier B, Jondeau G, Boileau C.

Hum Mutat. 2008 Nov;29(11):E284-95. doi: 10.1002/humu.20871.

5.

Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.

van Steensel MA, van Geel M, Parren LJ, Schrander-Stumpel CT, Marcus-Soekarman D.

Exp Dermatol. 2008 Apr;17(4):362-5. Epub 2007 Nov 2.

PMID:
17979970
6.

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

Adès LC, Sullivan K, Biggin A, Haan EA, Brett M, Holman KJ, Dixon J, Robertson S, Holmes AD, Rogers J, Bennetts B.

Am J Med Genet A. 2006 May 15;140(10):1047-58.

PMID:
16596670
7.

Molecular pathology of Shprintzen-Goldberg syndrome.

Kosaki K, Takahashi D, Udaka T, Kosaki R, Matsumoto M, Ibe S, Isobe T, Tanaka Y, Takahashi T.

Am J Med Genet A. 2006 Jan 1;140(1):104-8; author reply 109-10. No abstract available.

PMID:
16333834
8.

Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

Robinson PN, Neumann LM, Demuth S, Enders H, Jung U, König R, Mitulla B, Müller D, Muschke P, Pfeiffer L, Prager B, Somer M, Tinschert S.

Am J Med Genet A. 2005 Jun 15;135(3):251-62.

PMID:
15884042
9.

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, Meyers J, Leitch CC, Katsanis N, Sharifi N, Xu FL, Myers LA, Spevak PJ, Cameron DE, De Backer J, Hellemans J, Chen Y, Davis EC, Webb CL, Kress W, Coucke P, Rifkin DB, De Paepe AM, Dietz HC.

Nat Genet. 2005 Mar;37(3):275-81. Epub 2005 Jan 30.

PMID:
15731757
10.

Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years.

Stoll C.

Clin Dysmorphol. 2002 Jan;11(1):1-7.

PMID:
11822698
11.
12.

Shprintzen-Goldberg syndrome: a clinical analysis.

Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL Jr, Judisch GF, Hanson JW.

Am J Med Genet. 1998 Mar 19;76(3):202-12. Review.

PMID:
9508238
13.

P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.

Watanabe Y, Yano S, Koga Y, Yukizane S, Nishiyori A, Yoshino M, Kato H, Ogata T, Adachi M.

Hum Mutat. 1997;10(4):326-7. No abstract available.

PMID:
9338588
14.

Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus.

Hassed S, Shewmake K, Teo C, Curtis M, Cunniff C.

Am J Med Genet. 1997 Jun 27;70(4):450-3. No abstract available.

PMID:
9182791
16.

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC.

Nat Genet. 1996 Feb;12(2):209-11.

PMID:
8563763
17.

Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull.

Saal HM, Bulas DI, Allen JF, Vezina LG, Walton D, Rosenbaum KN.

Am J Med Genet. 1995 Jul 17;57(4):573-8. Review.

PMID:
7573131
18.

Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome.

Adès LC, Morris LL, Power RG, Wilson M, Haan EA, Bateman JF, Milewicz DM, Sillence DO.

Am J Med Genet. 1995 Jul 17;57(4):565-72. Review.

PMID:
7573130

Supplemental Content

Support Center