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Results: 1 to 20 of 127

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Shprintzen-Goldberg syndrome: case report.

Topouzelis N, Markovitsi E, Antoniades K.

Cleft Palate Craniofac J. 2003 Jul;40(4):433-6.

PMID:
12846610
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Ectopia lentis phenotypes and the FBN1 gene.

Adès LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B.

Am J Med Genet A. 2004 Apr 30;126A(3):284-9. Review.

PMID:
15054843
[PubMed - indexed for MEDLINE]
9.

Marfanoid features and craniosynostosis: report of one case and review.

Lacombe D, Battin J.

Clin Dysmorphol. 1993 Jul;2(3):220-4. Review.

PMID:
8287183
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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

Stoll C.

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

PMID:
11822698
[PubMed - indexed for MEDLINE]
12.

Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome.

Watanabe K, Okada E, Kosaki K, Tsuji T, Ishii K, Nakamura M, Chiba K, Toyama Y, Matsumoto M.

J Pediatr Orthop. 2011 Mar;31(2):186-93. doi: 10.1097/BPO.0b013e3182093da5.

PMID:
21307714
[PubMed - indexed for MEDLINE]
13.

Radiographic findings in Shprintzen-Goldberg syndrome.

Nishimura G, Nagai T.

Pediatr Radiol. 1996 Nov;26(11):775-8.

PMID:
8929375
[PubMed - indexed for MEDLINE]
14.

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

Au PY, Racher HE, Graham JM Jr, Kramer N, Lowry RB, Parboosingh JS, Innes AM; FORGE Canada Consortium.

Am J Med Genet A. 2014 Mar;164A(3):676-84. doi: 10.1002/ajmg.a.36340. Epub 2013 Dec 19.

PMID:
24357594
[PubMed - in process]
15.

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
[PubMed - indexed for MEDLINE]
16.

Marfanoid habitus, dysmorphic features, and web neck.

Lee YC, Wilson CJ, Winship IM, Veale AG.

South Med J. 2000 Dec;93(12):1197-200.

PMID:
11142456
[PubMed - indexed for MEDLINE]
17.

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.

Graham JM Jr, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW.

Am J Med Genet. 1998 May 26;77(4):322-9.

PMID:
9600744
[PubMed - indexed for MEDLINE]
18.

Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs.

Mégarbané A, Hersh JH, Chouery E, Fabre M.

Am J Med Genet. 2002 May 15;109(4):323-7.

PMID:
11992488
[PubMed - indexed for MEDLINE]
19.

Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes.

Akutsu K, Morisaki H, Takeshita S, Sakamoto S, Tamori Y, Yoshimuta T, Yokoyama N, Nonogi H, Ogino H, Morisaki T.

Circ J. 2007 Aug;71(8):1305-9.

PMID:
17652900
[PubMed - indexed for MEDLINE]
Free Article
20.

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
[PubMed - indexed for MEDLINE]

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