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Items: 17

1.

Marshall-Smith syndrome and septo-optic dysplasia: an unreported association.

Travan L, Oretti C, Zennaro F, Demarini S.

Am J Med Genet A. 2008 Aug 15;146A(16):2138-40. doi: 10.1002/ajmg.a.32430.

PMID:
18627063
2.

Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.

Stevens CA, Dobyns WB.

Am J Med Genet A. 2004 Feb 15;125A(1):12-6. Review.

PMID:
14755460
3.

Marshall-Smith syndrome: further delineation.

Yoder CC, Wiswell T, Cornish JD, Cunningham BE, Crumbaker DH.

South Med J. 1988 Oct;81(10):1297-300. Review.

PMID:
3051433
4.

Septo-optic dysplasia with digital anomalies--a recurrent pattern syndrome.

Harrison IM, Brosnahan D, Phelan E, Fitzgerald RJ, Reardon W.

Am J Med Genet A. 2004 Nov 15;131(1):82-5. Review.

PMID:
15368481
5.

Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.

Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Ormond KE, Hoyme EH.

Am J Med Genet A. 2005 Aug 30;137(2):117-24. Review.

PMID:
16086394
6.

[Natural course of septo-optic dysplasia: retrospective analysis of 20 cases].

León-Gonzalez M, García-Peñas JJ, Puertas-Bordallo D, López-Pino MA, Argente-Oliver J, Cantarín-Extremera V.

Rev Neurol. 2012 Mar 16;54(6):321-31. Review. Spanish.

7.

Marshall-Smith syndrome: case report of a newborn male and review of the literature.

Summers DA, Cooper HA, Butler MG.

Clin Dysmorphol. 1999 Jul;8(3):207-10. Review.

8.

Fronto-facio-nasal dysplasia.

Suthers G, David D, Clark B.

Clin Dysmorphol. 1997 Jul;6(3):245-9. Review.

PMID:
9220195
10.

Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.

Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI.

Am J Med Genet A. 2004 Sep 15;130A(1):55-72. Review.

PMID:
15368497
11.

Poly-epiphyseal overgrowth: description of a previously unreported skeletal dysplasia.

Pazzaglia UE, Beluffi G, Marchi A, Bozzola M, Savasta S, Bonaspetti G.

Pediatr Radiol. 2007 Oct;37(10):1025-30. Epub 2007 Jul 26. Review.

PMID:
17653707
12.

Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.

Mégarbané A, Maroteaux P, Caillaud C, Le Merrer M.

Am J Med Genet A. 2004 Feb 15;125A(1):61-6. Review.

PMID:
14755468
13.

Central nervous system malformations, dense bones and facial dysmorphism: a new autosomal recessive syndrome.

al-Gazali LI, Bakalinova D, Bakir M.

Clin Dysmorphol. 1998 Apr;7(2):123-6. Review.

PMID:
9571283
14.

[Weaver syndrome(Weaver-Smith syndrome)].

Matsuo M.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):806-7. Review. Japanese. No abstract available.

PMID:
11529033
15.

Reappraisal of the optic nerve hypoplasia syndrome.

Borchert M.

J Neuroophthalmol. 2012 Mar;32(1):58-67. doi: 10.1097/WNO.0b013e31824442b8. Review.

PMID:
22330852
16.

[Cornelia de Lange syndrome: report of a case and the review of literature on 17 cases].

Hei MY, Chen J, Wu LQ, Yu B, Tan YJ, Zhao LL.

Zhonghua Er Ke Za Zhi. 2012 Aug;50(8):606-11. Review. Chinese.

PMID:
23158739
17.

Septo-optic dysplasia.

Webb EA, Dattani MT.

Eur J Hum Genet. 2010 Apr;18(4):393-7. doi: 10.1038/ejhg.2009.125. Epub 2009 Jul 22. Review.

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